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
CLPSL1	340204	broad.mit.edu	37	6	35754898	35754898	+	Splice_Site	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:35754898G>A	ENST00000373861.5	+	2	316		c.e2+1		CLPSL1_ENST00000542261.1_Splice_Site			A2RUU4	CF127_HUMAN	colipase-like 1						digestion|lipid catabolic process	extracellular region	enzyme activator activity										TCAAACGCAGGTGGGTATCGC	0.657000													22	70					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265924	42265924	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:42265924C>T	ENST00000199764.6	+	4	969	c.751C>T	c.(751-753)Cca>Tca	p.P251S	AC011513.4_ENST00000601409.1_RNA	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	251	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CAATTACCGTCCAGGGGAAAA	0.517000													91	55					0	0	1	0	0
DDIT4	54541	broad.mit.edu	37	10	74034734	74034734	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:74034734C>T	ENST00000307365.3	+	3	688	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	163					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGTGGGCCAGCTGGCACTCGA	0.687000											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	37					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691489	117691489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:117691489C>T	ENST00000317775.6	-	17	3287	c.2602G>A	c.(2602-2604)Gac>Aac	p.D868N	NOS1_ENST00000338101.4_Missense_Mutation_p.D902N|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	868	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTCTGAGGTCGGGCCCATCG	0.562000													120	70					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34628871	34628871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:34628871G>A	ENST00000354181.3	-	2	503	c.11C>T	c.(10-12)cCa>cTa	p.P4L	SLC12A6_ENST00000560611.1_Missense_Mutation_p.P4L|SLC12A6_ENST00000558589.1_Intron|SLC12A6_ENST00000558667.1_Missense_Mutation_p.P4L|SLC12A6_ENST00000458406.2_Intron|SLC12A6_ENST00000397702.2_Intron|SLC12A6_ENST00000397707.2_Missense_Mutation_p.P4L			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	4					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GGTGGTTTCTGGAGGATGCAT	0.443000													33	48					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808178	20808178	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:20808178C>A	ENST00000601440.1	-	4	651	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GGTTTTTTCCCAGTATGTCCT	0.338000													6	20					0.0293803	0.0294191	1	1	0
COL1A1	1277	broad.mit.edu	37	17	48273994	48273994	+	Missense_Mutation	SNP	C	C	T	rs72645335		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:48273994C>T	ENST00000225964.5	-	12	960	c.842G>A	c.(841-843)gGt>gAt	p.G281D		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	281	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGCAGGACCAGCATCTCC	0.498000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						311	38					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790031	40790031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:40790031C>T	ENST00000373198.3	-	18	2944	c.2709G>A	c.(2707-2709)atG>atA	p.M903I	PTPRT_ENST00000356100.2_Missense_Mutation_p.M890I|PTPRT_ENST00000373201.1_Missense_Mutation_p.M871I|PTPRT_ENST00000373184.1_Missense_Mutation_p.M871I|PTPRT_ENST00000373190.1_Missense_Mutation_p.M880I|PTPRT_ENST00000373187.1_Missense_Mutation_p.M881I|PTPRT_ENST00000373193.3_Missense_Mutation_p.M884I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	881	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCTCTCTTCATCTGCGTGA	0.562000													60	147					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721094	222721094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:222721094C>T	ENST00000343410.6	-	1	351	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	98					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AATGTAATCTCCACACAGCTC	0.547000													155	57					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13427930	13427930	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:13427930G>A	ENST00000360228.5	-	11	1550	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	CACNA1A_ENST00000573710.2_Silent_p.F518F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	518					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACTCACAAAGGAAGTCGGAGA	0.502000													26	29					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69366610	69366610	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:69366610C>G	ENST00000562081.1	-	4	1619	c.1589G>C	c.(1588-1590)aGa>aCa	p.R530T	COG8_ENST00000306875.4_Intron			Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	0					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AATTTTCATTCTCTTACCTAA	0.363000													42	45					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716972	222716972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:222716972G>A	ENST00000343410.6	-	2	939	c.881C>T	c.(880-882)tCg>tTg	p.S294L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	294					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GTCCAGGCACGAATAATAAAT	0.468000													96	438					0	0	1	0	0
SLC35G6	643664	broad.mit.edu	37	17	7386012	7386012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:7386012G>A	ENST00000412468.2	+	2	824	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	ZBTB4_ENST00000311403.4_Intron	NM_001102614.1	NP_001096084.1	P0C7Q6	AMCL3_HUMAN	solute carrier family 35, member G6	237						integral to membrane											CTCTGTGCCAGGCCTCTTTGT	0.612000													88	5					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113819745	113819745	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:113819745C>T	ENST00000393200.2	+	4	321	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	IL36RN_ENST00000346807.3_Silent_p.L54L	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	54						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.L54M(1)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGATGCCAGCCTGTCCCCCGT	0.617000													56	76					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6161810	6161810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:6161810C>T	ENST00000261405.5	-	16	2339	c.2085G>A	c.(2083-2085)atG>atA	p.M695I		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	695	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCTCTCATCCATGTAGAGCC	0.597000													46	83					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109703275	109703275	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:109703275A>G	ENST00000338432.7	+	52	7314	c.7195A>G	c.(7195-7197)Atc>Gtc	p.I2399V	ACACB_ENST00000377848.3_Missense_Mutation_p.I2399V|ACACB_ENST00000543201.1_3'UTR|ACACB_ENST00000377854.5_Missense_Mutation_p.I2329V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2399					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)	GCGCTCCACCATCCGTGAGAA	0.632000													35	29					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31669375	31669375	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:31669375C>T	ENST00000395934.2	+	8	1021	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000350638.5_Silent_p.N338N|ELP4_ENST00000379163.5_Silent_p.N339N			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	338					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GAGAAACTAACCCATTGTATA	0.403000													20	30					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67589068	67589068	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:67589068G>A	ENST00000478722.1	+	17	2843	c.1722G>A	c.(1720-1722)acG>acA	p.T574T	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000543237.1_Silent_p.T587T|GPHN_ENST00000315266.5_Silent_p.T541T|GPHN_ENST00000305960.9_Silent_p.T510T	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	541	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GTTACCCCACGATCAACTTGG	0.393000			T	MLL	AL								34	62					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030448	6030448	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:6030448T>C	ENST00000546188.1	-	3	351	c.280A>G	c.(280-282)Aag>Gag	p.K94E	ANO2_ENST00000356134.5_Missense_Mutation_p.K94E|ANO2_ENST00000327087.8_Missense_Mutation_p.K94E			Q9NQ90	ANO2_HUMAN	anoctamin 2	98						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TAGTCGACCTTCCTCTGACTG	0.577000													45	80					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131189120	131189120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:131189120C>T	ENST00000541194.1	-	9	1890	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	PODXL_ENST00000322985.9_Missense_Mutation_p.D511N|PODXL_ENST00000537928.1_Missense_Mutation_p.D511N|PODXL_ENST00000378555.3_Missense_Mutation_p.D543N	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	543					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GTCAGGTTGTCCAGAGGGACG	0.592000													74	57					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818360	7818360	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:7818360G>T	ENST00000329434.2	-	1	160	c.130C>A	c.(130-132)Ctt>Att	p.L44I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATTCTGATAAGAATAATTATG	0.423000													47	34					1.51943e-15	1.53357e-15	1	1	0
BDKRB2	624	broad.mit.edu	37	14	96707829	96707829	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:96707829G>A	ENST00000542454.2	+	3	4171	c.1083G>A	c.(1081-1083)ggG>ggA	p.G361G	BDKRB2_ENST00000306005.3_Silent_p.G388G|BDKRB2_ENST00000539359.1_Silent_p.G361G|BDKRB2_ENST00000554311.1_Silent_p.G388G|RP11-404P21.8_ENST00000553811.1_Intron			P30411	BKRB2_HUMAN	bradykinin receptor B2	388					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ACTGGGCAGGGAGCAGACAGT	0.552000													25	60					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21581792	21581792	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:21581792A>G	ENST00000298925.5	+	18	2081	c.1928A>G	c.(1927-1929)aAc>aGc	p.N643S	NELL1_ENST00000325319.5_Missense_Mutation_p.N558S|NELL1_ENST00000357134.5_Missense_Mutation_p.N615S|NELL1_ENST00000529218.1_Intron|NELL1_ENST00000532434.1_Missense_Mutation_p.N568S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	615	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GCCTGCATCAACCTGGCAGGG	0.537000													62	192					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28497791	28497791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:28497791G>A	ENST00000569430.1	-	10	1373	c.554C>T	c.(553-555)tCc>tTc	p.S185F	CLN3_ENST00000568224.1_Missense_Mutation_p.S107F|CLN3_ENST00000333496.9_Missense_Mutation_p.S161F|CLN3_ENST00000354630.5_Missense_Mutation_p.S185F|CLN3_ENST00000359984.7_Missense_Mutation_p.S185F|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000395653.4_Missense_Mutation_p.S85F|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.S131F|CLN3_ENST00000565316.1_Missense_Mutation_p.S185F|CLN3_ENST00000355477.5_Intron|CLN3_ENST00000567963.1_Missense_Mutation_p.S185F|CLN3_ENST00000535392.1_Missense_Mutation_p.S107F|CLN3_ENST00000360019.2_Missense_Mutation_p.S185F			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	185					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						AGTCCCTGAGGACCACCAGGA	0.662000													10	16					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52946769	52946769	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:52946769G>A	ENST00000267119.5	-	1	162	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	31	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTGCCCGGAAGGAGGATGAGC	0.662000													197	150					0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77161015	77161015	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:77161015G>T	ENST00000372524.4	-	1	649	c.163C>A	c.(163-165)Cct>Act	p.P55T	ZNF503_ENST00000535216.1_Missense_Mutation_p.P55T	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TGCACAAAAGGCTTGGTGCTG	0.687000													3	10					0.00024832	0.000248976	1	1	0
TRIM69	140691	broad.mit.edu	37	15	45051047	45051047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:45051047C>T	ENST00000558173.1	+	2	4941	c.196C>T	c.(196-198)Ctc>Ttc	p.L66F	TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000559390.1_Missense_Mutation_p.L270F|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.L270F|TRIM69_ENST00000560442.1_Missense_Mutation_p.L66F|TRIM69_ENST00000338264.4_Missense_Mutation_p.L111F			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	270	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CTTCGACTTTCTCAAAGTGAG	0.473000													8	16					0	0	1	0	0
CCDC59	29080	broad.mit.edu	37	12	82752017	82752017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:82752017C>T	ENST00000256151.7	-	1	550	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	CCDC59_ENST00000548126.1_Intron	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CGAACGCTCCCCACGAAGGCT	0.498000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	83					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100849577	100849577	+	Silent	SNP	G	G	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:100849577G>T	ENST00000223127.3	-	19	2600	c.2202C>A	c.(2200-2202)tcC>tcA	p.S734S		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	734	Fe2OG dioxygenase.				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGTCGACAAAGGACACCATGA	0.652000													71	178					2.3666e-43	2.42736e-43	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63174447	63174447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:63174447C>T	ENST00000322893.7	-	11	3014	c.2746G>A	c.(2746-2748)Gaa>Aaa	p.E916K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	916	CAD (involved in subunit assembly) (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.E916K(3)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCTTTGAGTTCGTGTTTGACT	0.507000													75	181					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65035145	65035145	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:65035145G>A	ENST00000298705.1	+	7	609	c.513G>A	c.(511-513)aaG>aaA	p.K171K	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	171																	CACTGGAAAAGAAACCCAAAA	0.323000													16	48					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9869040	9869040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:9869040G>A	ENST00000397902.2	-	6	1126	c.713C>T	c.(712-714)tCc>tTc	p.S238F	ZNF846_ENST00000588267.1_Missense_Mutation_p.S109F|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Missense_Mutation_p.S109F	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGGTGTGAGGAATTACTGAA	0.373000													42	85					0	0	1	0	0
C18orf56	494514	broad.mit.edu	37	18	657986	657986	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:657986G>A	ENST00000323813.3	-	1	354	c.262C>T	c.(262-264)Cct>Tct	p.P88S	TYMS_ENST00000323224.7_Intron|C18orf56_ENST00000585033.1_Missense_Mutation_p.P88S|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323274.10_Intron	NM_001012716.2	NP_001012734.2	Q8TAI1	CR056_HUMAN	chromosome 18 open reading frame 56	88							protein binding										TGGCGGGAAGGAGGGAGGCGC	0.721000													12	4					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128351213	128351213	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:128351213C>T	ENST00000389524.4	+	18	2291	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	MYO7B_ENST00000428314.1_Silent_p.F746F|MYO7B_ENST00000409816.2_Silent_p.F746F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	746	IQ 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAAAATTTTCCTGAGGGTGA	0.607000													57	75					0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148950957	148950957	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:148950957C>T	ENST00000335870.2	+	5	1067	c.939C>T	c.(937-939)tcC>tcT	p.S313S		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGGACACTTCCCGCCCCTACG	0.572000													39	87					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884999	23884999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:23884999C>T	ENST00000355349.3	-	35	5158	c.4996G>A	c.(4996-4998)Gac>Aac	p.D1666N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1666					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTTCAGGTCGTCGTTGGCA	0.617000													90	43					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20178201	20178201	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:20178201G>A	ENST00000227256.3	-	4	707	c.708C>T	c.(706-708)tcC>tcT	p.S236S	DBX1_ENST00000524983.2_Intron	NM_001029865.2	NP_001025036.2	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	223					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GGCGGGGAGTGGAGTCGGGTG	0.647000													107	129					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686459	5686459	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5686459G>A	ENST00000305836.5	-	8	1364	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Silent_p.I354I|TRIM5_ENST00000396853.4_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	354	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCCCTGATGTGATACTTTGAG	0.453000													138	175					0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67038037	67038037	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:67038037C>T	ENST00000540947.2	+	9	1174	c.990C>T	c.(988-990)gaC>gaT	p.D330D	CES4A_ENST00000326686.5_Silent_p.D330D|CES4A_ENST00000535696.1_Silent_p.D236D|CES4A_ENST00000338718.4_Silent_p.D353D|CES4A_ENST00000540579.1_Silent_p.D232D|CES4A_ENST00000398354.1_Silent_p.D330D|CES4A_ENST00000541479.1_Silent_p.D353D	NM_173815.6	NP_776176.5	Q5XG92	EST4A_HUMAN	carboxylesterase 4A	330						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TCCCAGATGACCCTTTGGTGC	0.512000													88	109					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25611354	25611354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:25611354G>A	ENST00000330688.4	+	4	975	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	RARB_ENST00000458646.1_Missense_Mutation_p.R73Q|RARB_ENST00000404969.1_Missense_Mutation_p.R192Q|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Missense_Mutation_p.R73Q	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	192	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAGAAGATCCGAAAAGCTCAC	0.483000													80	47					0	0	1	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24473593	24473593	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:24473593G>A	ENST00000545240.1	+	4	456	c.456G>A	c.(454-456)cgG>cgA	p.R152R	DHRS4L2_ENST00000335125.6_3'UTR|DHRS4L2_ENST00000558753.1_3'UTR|DHRS4L2_ENST00000382755.4_Intron|DHRS4L2_ENST00000397071.1_Silent_p.R152R|DHRS4L2_ENST00000543805.1_Silent_p.R17R|DHRS4L2_ENST00000537912.1_3'UTR|DHRS4L2_ENST00000534993.1_Silent_p.R51R			D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	176							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		AAACCCTGCGGATAAGAAGGT	0.458000													11	24					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177154	223177154	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:223177154G>A	ENST00000284476.6	+	8	2579	c.2415G>A	c.(2413-2415)aaG>aaA	p.K805K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	805					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TAAATCCCAAGAGTAAAGGGA	0.478000													45	31					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169582216	169582216	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:169582216C>T	ENST00000263686.6	-	5	763	c.726G>A	c.(724-726)ctG>ctA	p.L242L	SELP_ENST00000367792.2_Silent_p.L242L|SELP_ENST00000367786.2_Silent_p.L242L|SELP_ENST00000367791.2_Silent_p.L242L|SELP_ENST00000367788.2_Silent_p.L242L|SELP_ENST00000367794.2_Silent_p.L242L|SELP_ENST00000367793.2_Silent_p.L242L|SELP_ENST00000458599.2_Silent_p.L242L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	242	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCAAGCATTCCAGCTTGCTGG	0.478000													39	141					0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140111659	140111659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:140111659C>T	ENST00000275874.5	+	4	526	c.328C>T	c.(328-330)Cct>Tct	p.P110S	RAB19_ENST00000356407.3_Intron|RAB19_ENST00000537763.1_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GACTCTCCTTCCTGTCCTTCT	0.527000													26	78					0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108985310	108985310	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:108985310C>T	ENST00000406360.1	+	2	1617	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	FOXO3_ENST00000343882.6_Missense_Mutation_p.S425F|FOXO3_ENST00000540898.1_Missense_Mutation_p.S205F	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	425					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGCCTGGGCTCCCCAACCAGC	0.597000													79	128					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62631108	62631108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:62631108C>T	ENST00000535781.1	+	8	1130	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	340					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GAGATGTGCCCCAAGGTGAGG	0.537000													24	44					0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34179674	34179674	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:34179674C>T	ENST00000266483.2	+	3	1565	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	416					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGAATTTCGTTACTTCAT	0.348000													46	161					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62626271	62626271	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:62626271G>A	ENST00000535781.1	+	5	552	c.441G>A	c.(439-441)agG>agA	p.R147R	ZNF512B_ENST00000450537.1_Intron|ZNF512B_ENST00000217130.3_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	147					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATTTCCAGAGGAAGTTGGCAG	0.522000													62	52					0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20869274	20869274	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:20869274G>A	ENST00000262715.5	-	9	1458	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F	TEP1_ENST00000556935.1_Missense_Mutation_p.S365F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	473	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCGACTTCGAGAAAAGAGCTG	0.517000													19	70					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60777108	60777108	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:60777108C>T	ENST00000313421.7	+	5	1032	c.846C>T	c.(844-846)ttC>ttT	p.F282F	CD6_ENST00000344028.5_Silent_p.F282F|CD6_ENST00000346437.4_Silent_p.F282F|CD6_ENST00000452451.2_Silent_p.F282F|CD6_ENST00000545105.1_Intron|CD6_ENST00000352009.5_Silent_p.F282F	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	282	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGGTACACTTCCGAGGGGTCT	0.642000													82	52					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488568	108488568	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:108488568G>A	ENST00000408999.3	+	20	4185	c.4108G>A	c.(4108-4110)Gat>Aat	p.D1370N	RGPD4_ENST00000354986.4_Missense_Mutation_p.D1370N	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1370	RanBD1 2.				intracellular transport		binding	p.D1370H(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATATGATAAAGATGTTGGTCA	0.358000													63	91					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35989768	35989768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:35989768C>T	ENST00000297866.5	+	12	2102	c.2036C>T	c.(2035-2037)cCc>cTc	p.P679L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	679										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTAAAGTCACCCTCACTCTCA	0.398000													15	1					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927249	53927249	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:53927249C>T	ENST00000371445.3	+	2	736	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DMRTB1_ENST00000463126.1_3'UTR	NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	227	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						ACCTGGACGCCCCTCCTGGCG	0.667000													49	69					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667274	33667274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:33667274C>T	ENST00000321505.4	+	16	4741	c.4561C>T	c.(4561-4563)Cct>Tct	p.P1521S	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P1527S					KIAA1549-like																		TGACAGAGTTCCTGAGCCCCG	0.537000													118	184					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17592171	17592171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:17592171G>A	ENST00000375460.3	+	4	404	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	122					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCTGGATTGCGACCTGAACTG	0.567000													80	96					0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043437	51043437	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:51043437C>T	ENST00000399908.2	+	3	1628	c.912C>T	c.(910-912)ctC>ctT	p.L304L	MAPK8IP2_ENST00000008876.5_Silent_p.L275L|MAPK8IP2_ENST00000399912.1_Silent_p.L304L|MAPK8IP2_ENST00000442429.2_Silent_p.L292L|MAPK8IP2_ENST00000329492.3_Silent_p.L569L|MAPK8IP2_ENST00000341339.4_Silent_p.L190L	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	570					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCTGACCTCACTTTCTCCA	0.652000													88	71					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20634840	20634840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:20634840C>T	ENST00000219151.4	-	14	1865	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	ACSM1_ENST00000307493.4_Missense_Mutation_p.E568K|ACSM1_ENST00000520010.1_Missense_Mutation_p.E568K			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	568					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTCCGAAGTTCCTTCCGTTCA	0.488000													40	53					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2312850	2312850	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:2312850G>A	ENST00000381458.5	+	10	1599	c.1536G>A	c.(1534-1536)acG>acA	p.T512T		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	512					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCAGGGATACGAAGACAGTGA	0.537000													42	24					0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139346556	139346556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:139346556C>T	ENST00000413939.2	-	3	411	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000406164.1_5'UTR|NMNAT3_ENST00000296202.7_Missense_Mutation_p.R4Q|NMNAT3_ENST00000514703.1_Missense_Mutation_p.R4Q|NMNAT3_ENST00000512391.1_Missense_Mutation_p.R4Q|NMNAT3_ENST00000511444.1_Intron|NMNAT3_ENST00000339837.5_Intron	NM_001200047.1	NP_001186976.1	Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	4					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CACAGGTATTCGGCTCTTCAT	0.522000													16	19					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17759783	17759783	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:17759783G>A	ENST00000428389.2	-	16	1797	c.1798C>T	c.(1798-1800)Cag>Tag	p.Q600*	UNC13A_ENST00000550896.1_Nonsense_Mutation_p.Q510*|UNC13A_ENST00000551649.1_Nonsense_Mutation_p.Q512*|UNC13A_ENST00000519716.2_Nonsense_Mutation_p.Q512*|UNC13A_ENST00000252773.7_Nonsense_Mutation_p.Q512*|UNC13A_ENST00000552293.1_Nonsense_Mutation_p.Q512*			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	512					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTCCTGGACTGGACCAGGGAC	0.632000													15	13					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38151308	38151308	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:38151308C>T	ENST00000264639.4	+	7	1257	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	PSMD3_ENST00000541736.1_Silent_p.F223F	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	361	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TGCCCTATTTCCTTCTGACTC	0.587000													149	14					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254887	51254887	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:51254887C>T	ENST00000404971.1	-	2	1864	c.525G>A	c.(523-525)agG>agA	p.R175R	NRXN1_ENST00000406316.2_Silent_p.R175R|NRXN1_ENST00000405581.1_Silent_p.R175R|NRXN1_ENST00000405472.3_Silent_p.R175R|NRXN1_ENST00000402717.3_Silent_p.R175R|NRXN1_ENST00000401669.2_Silent_p.R175R|NRXN1_ENST00000406859.3_Silent_p.R175R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	175	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTCCCGCTCCCTCACCGAGG	0.687000													6	12					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27158109	27158109	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:27158109C>T	ENST00000380036.4	+	2	775	c.333C>T	c.(331-333)atC>atT	p.I111I	TEK_ENST00000406359.4_Silent_p.I111I|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	111	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GAGAGGCAATCAGGATACGAA	0.473000													57	83					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196716410	196716410	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:196716410G>A	ENST00000367429.4	+	22	3903	c.3663G>A	c.(3661-3663)ggG>ggA	p.G1221G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1221	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTTGGGATGGGAAACTGGAGT	0.358000													34	165					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488418	108488418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:108488418G>A	ENST00000408999.3	+	20	4035	c.3958G>A	c.(3958-3960)Gaa>Aaa	p.E1320K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1320K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1320					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGGCACTGATGAAGAATCTGA	0.408000													54	75					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134489	128134489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:128134489C>T	ENST00000368250.1	-	5	1558	c.1060G>A	c.(1060-1062)Ggt>Agt	p.G354S	THEMIS_ENST00000537166.1_Missense_Mutation_p.G398S|THEMIS_ENST00000543064.1_Missense_Mutation_p.G433S|THEMIS_ENST00000368248.2_Missense_Mutation_p.G433S			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	433	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTACAAAACCTCCTTCCATG	0.443000													33	38					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162691	33162691	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:33162691G>A	ENST00000510327.1	-	0	346																											AGGAAGAAGAGATTTTAAACA	0.473000													3	8					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687003	68687003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:68687003G>A	ENST00000361320.4	+	2	907	c.329G>A	c.(328-330)aGa>aAa	p.R110K	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	110						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGAATACGCAGACTCAAAGAG	0.363000													63	82					0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156823982	156823982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:156823982C>T	ENST00000368195.3	-	2	595	c.199G>A	c.(199-201)Gac>Aac	p.D67N	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	67					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGCGGAAGTCCTCCCCGGTG	0.627000													95	55					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58512742	58512742	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:58512742C>T	ENST00000588627.1	-	0	615																											TTCTGTGGTTCGTCCTTCGTC	0.542000													23	0					0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218954061	218954061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:218954061G>A	ENST00000374155.3	+	11	2059	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	RUFY4_ENST00000344321.7_Missense_Mutation_p.R530Q|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	530							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATCTTTGGCCGATTTTCTCGG	0.602000													22	23					0	0	1	0	0
APOF	319	broad.mit.edu	37	12	56755236	56755236	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:56755236C>A	ENST00000398189.3	-	2	831	c.754G>T	c.(754-756)Ggg>Tgg	p.G252W	APOF_ENST00000541105.1_Missense_Mutation_p.G234W	NM_001638.2	NP_001629.1	Q13790	APOF_HUMAN	apolipoprotein F	252					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						TGCTGAACCCCAGACCTTAAT	0.512000													51	127					1.16596e-39	1.19428e-39	1	1	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77509909	77509909	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:77509909G>A	ENST00000477717.1	+	3	517	c.282G>A	c.(280-282)agG>agA	p.R94R		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	94					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TGCACTGCAGGGACTGTGCCC	0.602000													34	43					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715373	68715373	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:68715373A>G	ENST00000325631.5	+	2	235	c.161A>G	c.(160-162)cAg>cGg	p.Q54R	MARVELD2_ENST00000413223.2_Missense_Mutation_p.Q54R	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	54					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CTCCCATTACAGCCACCATTC	0.542000													96	76					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152777179	152777179	+	Splice_Site	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:152777179C>T	ENST00000367255.5	-	23	3170	c.2568_splice	c.e23-1	p.E857_splice	SYNE1_ENST00000367248.3_Splice_Site_p.E847_splice|SYNE1_ENST00000423061.1_Splice_Site_p.E864_splice|SYNE1_ENST00000367253.4_Splice_Site_p.E857_splice|SYNE1_ENST00000448038.1_Splice_Site_p.E864_splice|SYNE1_ENST00000413186.2_Splice_Site_p.E857_splice|SYNE1_ENST00000495090.2_Splice_Site_p.E424_splice|SYNE1_ENST00000341594.5_Splice_Site_p.E909_splice|SYNE1_ENST00000265368.4_Splice_Site_p.E857_splice	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	857					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)		GCTAACAGTTCCTATAACGAA	0.343000										HNSCC(10;0.0054)			24	24					0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140007854	140007854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:140007854C>T	ENST00000371579.2	-	5	584	c.580G>A	c.(580-582)Ggc>Agc	p.G194S		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	194						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TCGCCGAGGCCTGCCACAGCT	0.667000													39	39					0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55510993	55510993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:55510993C>T	ENST00000395472.2	+	2	1566	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	SOCS4_ENST00000555846.1_Missense_Mutation_p.P412S|SOCS4_ENST00000339298.2_Missense_Mutation_p.P412S	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	412	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CCTTCCAATTCCTTCTTCTAT	0.378000													23	61					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52387651	52387651	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:52387651C>T	ENST00000356297.4	-	7	675	c.575G>A	c.(574-576)gGg>gAg	p.G192E	PXDNL_ENST00000543296.1_Missense_Mutation_p.G192E	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	192	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAAAAGCTCCCCCAGCCACAT	0.522000													44	4					0	0	1	0	0
RSPH10B2	728194	broad.mit.edu	37	7	6797536	6797536	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:6797536C>T	ENST00000403107.1	+	2	615	c.228C>T	c.(226-228)tcC>tcT	p.S76S	RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000297186.3_Silent_p.S76S|RSPH10B2_ENST00000404077.1_Silent_p.S76S|RSPH10B2_ENST00000433859.2_Silent_p.S76S					radial spoke head 10 homolog B2 (Chlamydomonas)											breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						ACGAAGAGTCCATTCTGACCA	0.458000													143	286					0	0	1	0	0
BLOC1S5-TXNDC5	100526836	broad.mit.edu	37	6	7884654	7884654	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:7884654C>T	ENST00000539054.1	-	9	897	c.898G>A	c.(898-900)Gcg>Acg	p.A300T	BLOC1S5-TXNDC5_ENST00000604490.1_Missense_Mutation_p.A264T|TXNDC5_ENST00000379757.4_Missense_Mutation_p.A372T|TXNDC5_ENST00000473453.1_Missense_Mutation_p.A264T																							TTGACCCCCGCCAGACCAGGG	0.488000													63	145					0	0	1	0	0
EXOC3L2	90332	broad.mit.edu	37	19	45728119	45728119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:45728119G>A	ENST00000413988.1	-	6	497	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	EXOC3L2_ENST00000252482.3_Missense_Mutation_p.R153W	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	153										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GATGCTTCCCGGGCCGGCTCG	0.657000													21	5					0	0	1	0	0
VAPB	9217	broad.mit.edu	37	20	57016033	57016033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:57016033C>T	ENST00000475243.1	+	5	805	c.467C>T	c.(466-468)tCt>tTt	p.S156F	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	156					cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GTGTCTAAGTCTCTGAGTTCT	0.388000													25	37					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37081681	37081681	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:37081681C>T	ENST00000231790.2	+	14	1779	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L	MLH1_ENST00000458205.2_Silent_p.L280L|MLH1_ENST00000539477.1_Silent_p.L280L|MLH1_ENST00000536378.1_Silent_p.L280L|MLH1_ENST00000455445.2_Silent_p.L280L|MLH1_ENST00000435176.1_Silent_p.L423L	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	521	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTGCAGTTCTCCGGGAGATGT	0.458000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				79	51					0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77228347	77228347	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:77228347C>T	ENST00000248248.3	+	4	941	c.591C>T	c.(589-591)atC>atT	p.I197I	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Silent_p.I51I|MON1B_ENST00000439557.2_Silent_p.I88I	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	197							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ACGCACAGATCGTGAGCACAC	0.607000													80	87					0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99514379	99514379	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:99514379G>A	ENST00000378919.6	-	3	235	c.30C>T	c.(28-30)tcC>tcT	p.S10S	PGPEP1L_ENST00000535714.1_5'UTR|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	10					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GGCCCAGCTTGGAGAGCTCCT	0.612000													7	21					0	0	1	0	0
TIA1	7072	broad.mit.edu	37	2	70457969	70457969	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:70457969G>A	ENST00000433529.2	-	3	351	c.141C>T	c.(139-141)ccC>ccT	p.P47P	TIA1_ENST00000416149.2_Silent_p.P47P|TIA1_ENST00000415783.2_Silent_p.P47P|TIA1_ENST00000282574.4_Silent_p.P47P|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000445587.1_Silent_p.P47P	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	47	RRM 1.				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CAAAACAATAGGGATCATTTC	0.363000													49	62					0	0	1	0	0
TMEM183A	92703	broad.mit.edu	37	1	202984110	202984110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:202984110C>T	ENST00000367242.3	+	4	541	c.461C>T	c.(460-462)tCc>tTc	p.S154F	TMEM183A_ENST00000468449.1_3'UTR	NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			GTGAATTTTTCCCTGATTTGT	0.488000													23	95					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465764	41465764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr21:41465764G>A	ENST00000400454.1	-	21	4211	c.3734C>T	c.(3733-3735)tCc>tTc	p.S1245F		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1245	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.S1245F(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AATTCTGTAGGAAAACGAGTC	0.483000													31	44					0	0	1	0	0
NUDT13	25961	broad.mit.edu	37	10	74886445	74886445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:74886445G>A	ENST00000357321.4	+	8	836	c.718G>A	c.(718-720)Gag>Aag	p.E240K	NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000537969.1_Missense_Mutation_p.E43K|NUDT13_ENST00000544879.1_Missense_Mutation_p.E114K|NUDT13_ENST00000372997.3_Silent_p.K202K|NUDT13_ENST00000349051.5_Intron	NM_015901.4	NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	240	Nudix hydrolase.						hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					AAGTGTGGAAGAGACCATCCG	0.512000													37	85					0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28497790	28497790	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:28497790G>A	ENST00000569430.1	-	10	1374	c.555C>T	c.(553-555)tcC>tcT	p.S185S	CLN3_ENST00000568224.1_Silent_p.S107S|CLN3_ENST00000333496.9_Silent_p.S161S|CLN3_ENST00000354630.5_Silent_p.S185S|CLN3_ENST00000359984.7_Silent_p.S185S|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000395653.4_Silent_p.S85S|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000357857.9_Silent_p.S131S|CLN3_ENST00000565316.1_Silent_p.S185S|CLN3_ENST00000355477.5_Intron|CLN3_ENST00000567963.1_Silent_p.S185S|CLN3_ENST00000535392.1_Silent_p.S107S|CLN3_ENST00000360019.2_Silent_p.S185S			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	185					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CAGTCCCTGAGGACCACCAGG	0.657000													10	16					0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830786	830786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:830786C>T	ENST00000293892.3	-	3	214	c.215G>A	c.(214-216)cGt>cAt	p.R72H	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGGTAGGTGACGGTGTGCACG	0.592000													199	236					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38284240	38284240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38284240C>T	ENST00000311806.3	+	12	1453	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	OXSR1_ENST00000446845.1_Nonsense_Mutation_p.R361*	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	361					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTAGTCTCCCCGAGTGAAAGA	0.338000													50	53					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232393	117232393	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:117232393C>T	ENST00000003084.6	+	14	2304	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	CFTR_ENST00000454343.1_Silent_p.I663I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	724					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)	TGAATGGCATCGAAGAGGATT	0.438000									Cystic Fibrosis				38	24					0	0	1	0	0
ZRSR2	8233	broad.mit.edu	37	X	15827342	15827342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:15827342G>A	ENST00000307771.7	+	7	482	c.458G>A	c.(457-459)tGg>tAg	p.W153*		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	153					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GGTACCACATGGCAAAACCCA	0.383000			"""F, S, Mis"""		"""MDS, CLL"""								73	6					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56472573	56472573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:56472573C>T	ENST00000370754.5	-	39	6753	c.6754G>A	c.(6754-6756)Gga>Aga	p.G2252R	DST_ENST00000370769.4_Missense_Mutation_p.G2074R|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.G2074R|DST_ENST00000312431.6_Missense_Mutation_p.G2074R|DST_ENST00000446842.2_Missense_Mutation_p.G1748R			Q03001	DYST_HUMAN	dystonin	2074					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAGGTTCTCCACAGTGACAT	0.338000													18	23					0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	875301	875301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:875301G>A	ENST00000312090.6	-	10	1864	c.1714C>T	c.(1714-1716)Cct>Tct	p.P572S	MED16_ENST00000606828.1_5'UTR|MED16_ENST00000395808.3_Missense_Mutation_p.P572S|MED16_ENST00000269814.4_Missense_Mutation_p.P572S|MED16_ENST00000589119.1_Missense_Mutation_p.P572S|MED16_ENST00000325464.1_Missense_Mutation_p.P572S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	572					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;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)		CTCTTGTCAGGCGTGTTGAGA	0.627000													95	79					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16535300	16535300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:16535300G>A	ENST00000334133.4	-	2	349	c.77C>T	c.(76-78)cCt>cTt	p.P26L		NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	26						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTCCACCTGAGGCCTCTTCAA	0.483000													147	323					0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32096301	32096301	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:32096301G>A	ENST00000373703.4	-	5	790	c.768C>T	c.(766-768)gcC>gcT	p.A256A	HCRTR1_ENST00000373705.1_Intron	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	256	EF-hand 5.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TCTCCCGGAAGGCCTCTGTCA	0.577000													34	45					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167246922	167246922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:167246922G>A	ENST00000308378.3	-	10	1573	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	WDR49_ENST00000453925.2_Missense_Mutation_p.S487L|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.S248L	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	423								p.S423W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATAATAATCGATCCAACTCC	0.363000													23	26					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68518116	68518116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:68518116G>A	ENST00000443940.2	-	2	99	c.13C>T	c.(13-15)Cct>Tct	p.P5S	MTL5_ENST00000544963.1_Missense_Mutation_p.P5S|MTL5_ENST00000255087.5_Missense_Mutation_p.P5S			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	5					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCGGCAGAGGGCCCTCCTCC	0.726000													24	1					0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543039	182543039	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:182543039C>T	ENST00000295108.3	-	2	1006	c.549G>A	c.(547-549)ctG>ctA	p.L183L	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	183					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AGCCCGCAACCAGGTTGGTGG	0.607000													44	64					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193082039	193082039	+	Missense_Mutation	SNP	G	G	A	rs148527761	by1000genomes	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:193082039G>A	ENST00000342358.4	-	2	211	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	32					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGGCTTTCCGTACATTGTGG	0.463000													103	243					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62121500	62121500	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:62121500C>T	ENST00000433197.2	-	22	2877	c.2782G>A	c.(2782-2784)Gac>Aac	p.D928N		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	928	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CACACGAAGTCGTCGGGGAGG	0.597000													71	6					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526034	7526034	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:7526034G>A	ENST00000313599.3	-	14	3669	c.3612C>T	c.(3610-3612)ttC>ttT	p.F1204F	CD163L1_ENST00000416109.2_Silent_p.F1214F|CD163L1_ENST00000396630.1_Silent_p.F1204F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1204	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCACCCACATGAAACCAGAGC	0.537000													123	93					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072531	75072531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:75072531C>T	ENST00000326665.5	-	10	1461	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.E218K	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	415	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						GTGCTCTTTTCTTTCCTAGAT	0.403000													27	34					0	0	1	0	0
UFC1	51506	broad.mit.edu	37	1	161128000	161128000	+	Splice_Site	SNP	G	G	T	rs144419091		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:161128000G>T	ENST00000368003.5	+	5	668	c.423_splice	c.e5+1	p.G141_splice	RP11-297K8.2_ENST00000420498.1_RNA|UFC1_ENST00000473766.1_3'UTR	NM_016406.3	NP_057490.2	Q9Y3C8	UFC1_HUMAN	ubiquitin-fold modifier conjugating enzyme 1	141					protein ufmylation		protein binding|UFM1 conjugating enzyme activity			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGGCTCTGGGGGTAAGTTTT	0.453000													50	214					2.5401e-28	2.59131e-28	1	1	0
MICAL2	9645	broad.mit.edu	37	11	12183807	12183807	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:12183807C>T	ENST00000256194.4	+	3	393	c.105C>T	c.(103-105)ctC>ctT	p.L35L	MICAL2_ENST00000527546.1_Silent_p.L35L|MICAL2_ENST00000537344.1_Silent_p.L35L|MICAL2_ENST00000342902.5_Silent_p.L35L|MICAL2_ENST00000379612.3_Silent_p.L35L	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	35						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAACATTCTCACACGACACC	0.527000													57	55					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903241	76903241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:76903241C>T	ENST00000409709.3	+	31	4342	c.4070C>T	c.(4069-4071)cCc>cTc	p.P1357L	MYO7A_ENST00000458637.2_Missense_Mutation_p.P1357L|MYO7A_ENST00000409619.2_Missense_Mutation_p.P1346L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1357	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGCACAGCCCCTCCGAGGAC	0.622000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	76	216					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223275	35223275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:35223275G>A	ENST00000338513.1	+	2	517	c.344G>A	c.(343-345)cGc>cAc	p.R115H		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	115					cell communication|epidermis development	connexon complex|integral to membrane		p.R115L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				AACAGTGGGCGCCTCTACCTG	0.602000													82	83					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129636685	129636685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:129636685C>T	ENST00000421865.2	+	25	3669	c.3620C>T	c.(3619-3621)aCc>aTc	p.T1207I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1207	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACACGACCACCAAGGGCATT	0.468000													50	86					0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24122860	24122860	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:24122860C>T	ENST00000215743.3	+	4	626	c.574C>T	c.(574-576)Cac>Tac	p.H192Y	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	192					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				AGGGGATGTCCACTTCGACTA	0.567000													67	49					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52306883	52306883	+	Splice_Site	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:52306883G>A	ENST00000550683.1	+	2	205	c.103_splice	c.e2-1	p.G35_splice	ACVRL1_ENST00000388922.4_Splice_Site_p.G21_splice|ACVRL1_ENST00000419526.2_Intron	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	21					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGTCTTCCAGGAGACCCTGTG	0.647000													8	20					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107575	55107575	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:55107575G>A	ENST00000474759.1	+	36	3139	c.3091G>A	c.(3091-3093)Gaa>Aaa	p.E1031K	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E937K|CACNA2D3_ENST00000478261.1_Intron|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E1031K|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E1031K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1031						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGCACCCATTGAAATCAGGTA	0.502000													62	45					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627450	187627450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:187627450C>T	ENST00000304698.5	+	8	2584	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	794						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTAATACATCCCCCACTAAA	0.478000													8	15					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	68987482	68987482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:68987482G>A	ENST00000543950.1	+	3	559	c.205G>A	c.(205-207)Ggc>Agc	p.G69S	CORO2B_ENST00000566799.1_Missense_Mutation_p.G74S|CORO2B_ENST00000540068.1_Missense_Mutation_p.G69S|CORO2B_ENST00000261861.5_Missense_Mutation_p.G69S	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	74					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCTGCAGACAGGCAGGATTGA	0.527000													71	53					0	0	1	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163545	32163545	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:32163545C>T	ENST00000564145.1	-	0	65																											CCAAACTCATCGTGCACAATT	0.582000													31	81					0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97063601	97063601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:97063601G>A	ENST00000326771.2	+	7	1188	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	FHL5_ENST00000541107.1_Missense_Mutation_p.E270K	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	270	LIM zinc-binding 4.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCAGAACAAGGAAATCTTCTG	0.478000													22	44					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104561948	104561948	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:104561948C>T	ENST00000551177.1	+	4	476	c.384C>T	c.(382-384)ttC>ttT	p.F128F	ASPG_ENST00000546892.2_Silent_p.F128F|ASPG_ENST00000455920.2_Silent_p.F128F	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	128	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGCTGTCCTTCATGCTGGAGA	0.627000													58	43					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150093982	150093982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:150093982G>A	ENST00000329630.5	+	3	520	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G138N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCTCTGCGGCAAGTGCGGC	0.672000													27	22					0	0	1	0	0
PIGK	10026	broad.mit.edu	37	1	77620261	77620261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:77620261G>A	ENST00000370812.3	-	9	882	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	PIGK_ENST00000370813.5_Missense_Mutation_p.R211C|PIGK_ENST00000445065.1_Missense_Mutation_p.R193C|PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000359130.1_Missense_Mutation_p.R287C	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	287					attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AGATCAGTGCGATGTCCAGGA	0.348000													30	22					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094564	46094564	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:46094564G>A	ENST00000323040.4	-	2	1505	c.561C>T	c.(559-561)ttC>ttT	p.F187F	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	187						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGAAGCCCACGAACACCCGAT	0.632000													49	95					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43243030	43243030	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:43243030C>T	ENST00000327495.5	-	2	460	c.276G>A	c.(274-276)ggG>ggA	p.G92G	PSG3_ENST00000595140.1_Silent_p.G92G|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	92	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGTATGCAGGCCCATATATAA	0.448000													172	559					0	0	1	0	0
AMMECR1	9949	broad.mit.edu	37	X	109560938	109560938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:109560938G>A	ENST00000262844.5	-	1	529	c.362C>T	c.(361-363)tCc>tTc	p.S121F	AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_Missense_Mutation_p.S121F|AMMECR1_ENST00000496695.1_5'UTR	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	121	AMMECR1.|Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CATCTTCCGGGAGCCCGGCGA	0.637000													17	0					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	428049	428049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:428049C>T	ENST00000316418.5	+	9	946	c.902C>T	c.(901-903)gCg>gTg	p.A301V	AHRR_ENST00000505113.1_Missense_Mutation_p.A283V|AHRR_ENST00000512529.1_Missense_Mutation_p.A129V|AHRR_ENST00000506456.1_Missense_Mutation_p.A139V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.A297V(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCCTCCGCAGCGGAGATGAAA	0.617000													14	41					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207790106	207790106	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:207790106G>A	ENST00000367049.4	+	41	6848	c.6848G>A	c.(6847-6849)tGg>tAg	p.W2283*	CR1_ENST00000400960.2_Nonsense_Mutation_p.W1833*|CR1_ENST00000367053.1_Nonsense_Mutation_p.W1833*|CR1_ENST00000367052.1_Nonsense_Mutation_p.W1833*|CR1_ENST00000367051.1_Nonsense_Mutation_p.W1833*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1833					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATGGGGTTTGGAGCAGCCCT	0.527000													317	140					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70236594	70236594	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:70236594C>T	ENST00000342771.4	+	11	2115	c.1794C>T	c.(1792-1794)ggC>ggT	p.G598G	AUTS2_ENST00000406775.2_Silent_p.G598G	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	598										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)		CACCCACTGGCCCTTTTGGTT	0.537000													115	99					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231113608	231113608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:231113608G>A	ENST00000392045.3	+	9	1015	c.901G>A	c.(901-903)Gat>Aat	p.D301N	SP140_ENST00000417495.3_Missense_Mutation_p.D248N|SP140_ENST00000343805.6_Missense_Mutation_p.D275N|SP140_ENST00000350136.5_Missense_Mutation_p.D231N|SP140_ENST00000486687.2_Missense_Mutation_p.D225N|SP140_ENST00000420434.3_Missense_Mutation_p.D301N	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	301					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGACCTTTGATCTAAAAAC	0.433000													22	27					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156508826	156508826	+	Splice_Site	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:156508826C>T	ENST00000361170.2	-	26	3067		c.e26-1		IQGAP3_ENST00000498755.1_5'UTR	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3						small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCTTTGACCTGTGGTTTAA	0.537000													13	68					0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150404944	150404944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:150404944G>A	ENST00000388825.4	+	2	223	c.131G>A	c.(130-132)gGa>gAa	p.G44E	GPX3_ENST00000521722.1_3'UTR|GPX3_ENST00000517973.1_Intron	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	44					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	TACGAGTACGGAGCCCTCACC	0.532000													61	75					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90128336	90128336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:90128336G>A	ENST00000407825.1	-	7	894	c.257C>T	c.(256-258)tCc>tTc	p.S86F	PRDM7_ENST00000449207.2_Missense_Mutation_p.S292F|PRDM7_ENST00000325921.6_Missense_Mutation_p.S86F			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	292	KRAB-related.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TACTAGCCAGGAATATCCACT	0.507000													91	125					0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116083796	116083796	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:116083796G>A	ENST00000374193.4	-	8	879	c.633C>T	c.(631-633)acC>acT	p.T211T	WDR31_ENST00000374195.3_Silent_p.T86T|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Silent_p.T210T	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	211										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CCCACCTGAGGGTTTTATCTT	0.473000													20	33					0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130058	35130058	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:35130058C>T	ENST00000436258.1	-	0	3311																											TGTCCGAGCCCTTTAAATTTA	0.259000													23	61					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898548	28898548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:28898548C>T	ENST00000395503.4	+	7	767	c.583C>T	c.(583-585)Cct>Tct	p.P195S	ATP2A1_ENST00000536376.1_Missense_Mutation_p.P70S|ATP2A1_ENST00000357084.3_Missense_Mutation_p.P195S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	195					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGAGCCCGTTCCTGACCCCCG	0.572000													71	94					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181712	140181712	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140181712C>T	ENST00000522353.2	+	1	930	c.930C>T	c.(928-930)ttC>ttT	p.F310F	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.F310F	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATAGATTTCGAGGAAAGTA	0.398000													58	93					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1030958	1030958	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:1030958G>A	ENST00000421673.2	-	6	723	c.673C>T	c.(673-675)Cag>Tag	p.Q225*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	225	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGGCCTGCCGGACGTGG	0.657000													7	17					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713473	222713473	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:222713473C>T	ENST00000343410.6	-	4	1387	c.1329G>A	c.(1327-1329)ggG>ggA	p.G443G		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	443					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGCCCACGTCCCCACAGAATA	0.542000													56	210					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128179	20128179	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:20128179C>T	ENST00000334554.7	+	6	841	c.700C>T	c.(700-702)Cga>Tga	p.R234*	ZDHHC8_ENST00000405930.3_Nonsense_Mutation_p.R234*|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Nonsense_Mutation_p.R142*	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	234						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCCTTTCACCCGAGGCTGCTG	0.701000													22	30					0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107391195	107391195	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:107391195G>A	ENST00000429433.2	-	5	1849	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F	BEND3_ENST00000369042.1_Silent_p.F400F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	400	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTTCGTCCAGGAACTCAGTGA	0.607000													82	81					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837994	40837994	+	Silent	SNP	A	A	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:40837994A>T	ENST00000264638.4	+	6	952	c.735A>T	c.(733-735)ccA>ccT	p.P245P	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	245	Laminin G-like 1.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTATCCAGCCAAGACCAGGTC	0.597000													189	21					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087538	92087538	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:92087538G>A	ENST00000298047.6	+	1	2277	c.2260G>A	c.(2260-2262)Gac>Aac	p.D754N	FAT3_ENST00000525166.1_Missense_Mutation_p.D604N|FAT3_ENST00000409404.2_Missense_Mutation_p.D754N|FAT3_ENST00000541502.1_Missense_Mutation_p.D754N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	754	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATGATGCCGACTCTGGCTT	0.398000										TCGA Ovarian(4;0.039)			114	7					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41033206	41033206	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:41033206G>A	ENST00000399564.4	-	23	2748	c.2298C>T	c.(2296-2298)gtC>gtT	p.V766V	MROH2B_ENST00000506092.2_Silent_p.V321V	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.V766V(1)									CAGCATCTTGGACAGCAATGC	0.453000													13	59					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558576	140558576	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140558576G>A	ENST00000239444.2	+	1	1206	c.961G>A	c.(961-963)Gag>Aag	p.E321K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		321	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCAATATCGAGGCGAGAGA	0.398000													80	599					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359880	16359880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:16359880C>T	ENST00000354981.2	-	19	2924	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	KIF16B_ENST00000378003.2_Missense_Mutation_p.E149K|KIF16B_ENST00000355755.3_Missense_Mutation_p.E923K|KIF16B_ENST00000408042.1_Missense_Mutation_p.E923K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	923	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCTGCTTTTCTTCCAACAGA	0.413000													28	73					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25449539	25449539	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:25449539G>A	ENST00000424208.1	+	0	2339				SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA	NR_003305.1																						GTCCTGAAGAGAGGTGATGAC	0.512000													88	183					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771406	143771406	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:143771406C>T	ENST00000408898.2	+	1	132	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCTCTTCTCCCTGTTCTACAT	0.522000													56	117					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38524693	38524693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38524693C>T	ENST00000352511.3	+	11	1881	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	470	Protein kinase.				activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCTCGCTTGTCCGCGGGCTGT	0.597000													229	124					0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995630	57995630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:57995630G>A	ENST00000316770.2	-	1	760	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AAGGCCCGGCGGCGGCCCTCG	0.632000													53	38					0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34136412	34136412	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:34136412C>T	ENST00000348547.2	+	6	689	c.612C>T	c.(610-612)ttC>ttT	p.F204F	ERGIC3_ENST00000447986.1_Silent_p.F204F|ERGIC3_ENST00000279052.6_Silent_p.F204F|ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000357394.4_Silent_p.F204F	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	204					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGTATGGCTTCTTGGAAGTCA	0.562000													16	40					0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148514433	148514433	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:148514433G>A	ENST00000320356.2	-	11	1412	c.1291C>T	c.(1291-1293)Cct>Tct	p.P431S	EZH2_ENST00000478654.1_Missense_Mutation_p.P417S|EZH2_ENST00000476773.1_Missense_Mutation_p.P417S|EZH2_ENST00000350995.2_Missense_Mutation_p.P387S|EZH2_ENST00000460911.1_Missense_Mutation_p.P426S|EZH2_ENST00000541220.1_Missense_Mutation_p.P417S|EZH2_ENST00000483967.1_Missense_Mutation_p.P417S	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	426					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTCTCAGGAGGTTCAATATTT	0.388000			Mis		DLBCL								28	41					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50873054	50873054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:50873054G>A	ENST00000395562.2	+	16	2432	c.1963G>A	c.(1963-1965)Gaa>Aaa	p.E655K	CHAT_ENST00000455728.2_Intron|CHAT_ENST00000351556.3_Missense_Mutation_p.E619K|CHAT_ENST00000395559.2_Missense_Mutation_p.E619K|CHAT_ENST00000337653.2_Missense_Mutation_p.E737K|CHAT_ENST00000339797.1_Missense_Mutation_p.E619K	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	737					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGCAACAAAGGAAAAAGCCAC	0.537000													45	65					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040619	147040619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:147040619C>T	ENST00000265272.5	-	3	986	c.519G>A	c.(517-519)atG>atA	p.M173I	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.M173I|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.M131I	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	173						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTTGGATCATATTGCTCA	0.522000													116	162					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576896	28576896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:28576896C>T	ENST00000434452.1	-	15	2508	c.2354G>A	c.(2353-2355)gGa>gAa	p.G785E	DSC3_ENST00000360428.4_Missense_Mutation_p.G785E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	785					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGTCTGGTTTCCTCCTTTCAT	0.502000													18	56					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48239109	48239109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:48239109G>A	ENST00000309562.2	+	1	766	c.748G>A	c.(748-750)Gga>Aga	p.G250R		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTGTTTTTTGGACCTGCTAT	0.478000													49	59					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65245733	65245733	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:65245733C>T	ENST00000234256.3	+	7	1527	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	SLC1A4_ENST00000531327.1_Silent_p.V130V	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	428					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTGGAGGGGTCCTCACCATTG	0.567000													56	64					0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793621	53793621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:53793621C>T	ENST00000426466.1	-	1	1254	c.7G>A	c.(7-9)Ggt>Agt	p.G3S		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	3					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		GCTTCATAACCCGTCATGGAT	0.423000													39	30					0	0	1	0	0
WISP3	8838	broad.mit.edu	37	6	112390552	112390552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:112390552G>A	ENST00000361714.1	+	5	893	c.848G>A	c.(847-849)gGa>gAa	p.G283E	WISP3_ENST00000368663.3_Missense_Mutation_p.G242E|WISP3_ENST00000604763.1_Missense_Mutation_p.G265E|WISP3_ENST00000409166.1_Missense_Mutation_p.G41E|WISP3_ENST00000368666.2_Missense_Mutation_p.G265E|WISP3_ENST00000230529.5_Missense_Mutation_p.G265E			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	265	CTCK.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		ATTCCCAAAGGAAAAACATGC	0.308000													10	17					0	0	1	0	0
S100Z	170591	broad.mit.edu	37	5	76171199	76171199	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:76171199C>T	ENST00000317593.4	+	3	247	c.15C>T	c.(13-15)ctC>ctT	p.L5L	S100Z_ENST00000513010.1_Silent_p.L5L	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	5							calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		CCACCCAGCTCGAGATGGCCA	0.522000													39	15					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66100731	66100731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:66100731G>A	ENST00000311320.4	-	9	1999	c.1873C>T	c.(1873-1875)Cag>Tag	p.Q625*	RIN1_ENST00000424433.2_Nonsense_Mutation_p.Q520*|RIN1_ENST00000530056.1_Nonsense_Mutation_p.Q459*|RIN1_ENST00000524804.1_5'UTR	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	625	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCTGTTACCTGGAAGCAGTGG	0.652000													100	57					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831858	49831858	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:49831858C>T	ENST00000527477.1	+	0	2083																											AAGCCCTCTTCCTTGTGCCTT	0.368000													40	51					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1158055	1158055	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:1158055C>T	ENST00000356191.2	+	14	1026	c.1026C>T	c.(1024-1026)caC>caT	p.H342H						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		TGCAGTACCACGAGTGCCGCT	0.667000													15	72					0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4407076	4407076	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:4407076G>A	ENST00000254436.7	-	7	979	c.867C>T	c.(865-867)atC>atT	p.I289I	TRIM21_ENST00000543625.1_Silent_p.I289I	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	289	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GATCCAGAGTGATGTGGACTG	0.527000													23	27					0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8243772	8243772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:8243772C>T	ENST00000328248.2	+	1	591	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F	ODF4_ENST00000584943.1_Intron	NM_153007.4	NP_694552.2	Q2M2E3	ODFP4_HUMAN	outer dense fiber of sperm tails 4	135					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GTCCATGGGGCTCCTGCACTT	0.572000													45	6					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864608	13864608	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:13864608C>T	ENST00000265104.4	-	28	4598	c.4494G>A	c.(4492-4494)agG>agA	p.R1498R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1498	Stem (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)					GGGTGGTTATCCTTTCCCAGT	0.458000									Kartagener syndrome				46	32					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255021	51255021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:51255021C>T	ENST00000404971.1	-	2	1730	c.391G>A	c.(391-393)Gac>Aac	p.D131N	NRXN1_ENST00000406316.2_Missense_Mutation_p.D131N|NRXN1_ENST00000405581.1_Missense_Mutation_p.D131N|NRXN1_ENST00000405472.3_Missense_Mutation_p.D131N|NRXN1_ENST00000402717.3_Missense_Mutation_p.D131N|NRXN1_ENST00000401669.2_Missense_Mutation_p.D131N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D131N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	131	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCACCTGGTCGATGAAGAGC	0.682000													36	44					0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726609	238726609	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:238726609C>T	ENST00000316997.4	+	3	1182	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Silent_p.N350N	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	349							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TTGTTGAGAACAAAATATTAC	0.313000													14	12					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020887	51020887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:51020887G>A	ENST00000599957.1	-	3	2280	c.2083C>T	c.(2083-2085)Cac>Tac	p.H695Y	LRRC4B_ENST00000389201.3_Missense_Mutation_p.H695Y			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	695						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGAGGTTCGTGGATGGAGTTG	0.697000													20	58					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380508	3380508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:3380508G>A	ENST00000354599.6	-	4	1618	c.1514C>T	c.(1513-1515)cCc>cTc	p.P505L	ZNF195_ENST00000429541.2_Missense_Mutation_p.P509L|ZNF195_ENST00000343338.7_Missense_Mutation_p.P509L|ZNF195_ENST00000005082.9_Missense_Mutation_p.P554L|ZNF195_ENST00000399602.4_Missense_Mutation_p.P577L|ZNF195_ENST00000526601.1_Missense_Mutation_p.P558L|ZNF195_ENST00000528796.1_Intron	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATTTGTAGGGTTTCTCTCC	0.398000													33	131					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119029561	119029561	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:119029561C>T	ENST00000307417.3	+	12	1723	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	ABCG4_ENST00000531739.1_Silent_p.F453F|ABCG4_ENST00000449422.2_Silent_p.F453F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	453	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGCGGTCTTCATGAGGGAGC	0.622000													293	32					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27448185	27448185	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:27448185G>A	ENST00000527372.1	-	6	1596	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P	MYO18A_ENST00000531253.1_Silent_p.P472P|MYO18A_ENST00000533112.1_Silent_p.P472P|MYO18A_ENST00000354329.4_Silent_p.P472P	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	472	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CATAGATGTGGGGTGCCATGT	0.567000													25	3					0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785440	12785440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:12785440C>T	ENST00000332530.3	+	3	546	c.320C>T	c.(319-321)tCg>tTg	p.S107L	AADACL3_ENST00000359318.5_Missense_Mutation_p.S177L	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	177							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAAACCCCTTCGTTTCAACAG	0.493000													114	174					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132445401	132445401	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:132445401G>A	ENST00000370828.3	-	4	1286	c.762C>T	c.(760-762)tgC>tgT	p.C254C	GPC4_ENST00000535467.1_Silent_p.C184C	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	254					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)					GGCAGTGGGAGCAGTAGATCA	0.478000													4	134					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35846258	35846258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:35846258C>T	ENST00000377988.2	+	8	1665	c.377C>T	c.(376-378)tCc>tTc	p.S126F	TMEM8B_ENST00000377996.1_Missense_Mutation_p.S126F|TMEM8B_ENST00000439587.2_Missense_Mutation_p.S126F|TMEM8B_ENST00000473947.1_3'UTR|TMEM8B_ENST00000377991.4_Missense_Mutation_p.S126F	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	126					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CCTTCAGAGTCCCTGGCCGGC	0.632000													88	77					0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25201921	25201921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:25201921G>A	ENST00000360031.2	+	11	1176	c.994G>A	c.(994-996)Gag>Aag	p.E332K	ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Missense_Mutation_p.E316K|ENTPD6_ENST00000376652.4_Missense_Mutation_p.E333K	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	333						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TTTCAAAGGAGAGTGGGAACA	0.517000													52	55					0	0	1	0	0
TRAV27	28655	broad.mit.edu	37	14	22616359	22616359	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:22616359G>A	ENST00000390457.2	+	0	197																											CATCCAAGAGGGAGAAAATCT	0.507000													18	56					0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6520166	6520166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:6520166G>A	ENST00000377828.1	+	13	2693	c.2525G>A	c.(2524-2526)cGa>cAa	p.R842Q	ESPN_ENST00000416731.1_Missense_Mutation_p.R276Q|ESPN_ENST00000461727.1_Missense_Mutation_p.R276Q	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	842					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGCAGCGACAGGTCATC	0.657000													32	15					0	0	1	0	0
STRAP	11171	broad.mit.edu	37	12	16050871	16050871	+	Missense_Mutation	SNP	C	C	T	rs145164927		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:16050871C>T	ENST00000419869.2	+	7	1007	c.694C>T	c.(694-696)Cat>Tat	p.H232Y	STRAP_ENST00000025399.6_Missense_Mutation_p.H245Y|STRAP_ENST00000538352.1_Missense_Mutation_p.H138Y	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	232					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TGCATCTCTTCATCCTGAGAA	0.333000													37	88					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34526952	34526952	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:34526952C>T	ENST00000374012.3	+	16	2763	c.2634C>T	c.(2632-2634)tcC>tcT	p.S878S	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	878					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCGATGATTCCCTTTCCCCGC	0.627000													36	116					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34853016	34853016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:34853016C>T	ENST00000420428.2	-	7	1307	c.912G>A	c.(910-912)atG>atA	p.M304I	CELF4_ENST00000601019.1_Missense_Mutation_p.M302I|CELF4_ENST00000588597.1_Missense_Mutation_p.M293I|CELF4_ENST00000591282.1_Missense_Mutation_p.M304I|CELF4_ENST00000361795.5_Missense_Mutation_p.M302I|CELF4_ENST00000591287.1_Missense_Mutation_p.M303I|CELF4_ENST00000412753.1_Missense_Mutation_p.M303I|CELF4_ENST00000334919.5_Missense_Mutation_p.M294I|CELF4_ENST00000603232.1_Missense_Mutation_p.M303I	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	304	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CCAGGCCATTCATGTTGAGGG	0.677000													87	49					0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090447	238090447	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:238090447C>T	ENST00000450451.1	+	0	1953					NR_027247.2																						TGCTGCTGATCGAGGCCTGCC	0.577000													24	179					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70098620	70098620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:70098620C>T	ENST00000370598.1	+	32	5227	c.4406C>T	c.(4405-4407)cCa>cTa	p.P1469L	BAI3_ENST00000238918.8_Missense_Mutation_p.P675L|BAI3_ENST00000546190.1_Missense_Mutation_p.P433L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1469					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1469L(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AACAAGAATCCATGGGACACT	0.468000													12	14					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096275	41096275	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:41096275G>C	ENST00000291842.5	+	16	1764	c.1715G>C	c.(1714-1716)aGc>aCc	p.S572T	SHKBP1_ENST00000600733.1_Missense_Mutation_p.S547T	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	572						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCAACGGCAGCTTGGCCATG	0.706000													3	55					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66631255	66631255	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:66631255C>T	ENST00000393960.1	-	12	1639	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	PC_ENST00000393955.2_Missense_Mutation_p.R453Q|PC_ENST00000355677.3_Missense_Mutation_p.R453Q|PC_ENST00000524491.1_Missense_Mutation_p.R413Q|PC_ENST00000393958.2_Missense_Mutation_p.R453Q	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	453	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTTCACACCTCGGACGCGGAA	0.662000													69	135					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49714445	49714445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:49714445G>A	ENST00000252826.5	+	24	3685	c.3559G>A	c.(3559-3561)Ggg>Agg	p.G1187R	TRPM4_ENST00000355712.5_Missense_Mutation_p.G833R|TRPM4_ENST00000427978.2_Missense_Mutation_p.G1042R	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1187					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCGCGTCCTGGGGTGGGTGGC	0.687000													20	12					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904317	55904317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:55904317C>T	ENST00000301529.1	-	1	877	c.878G>A	c.(877-879)aGg>aAg	p.R293K		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATCATTATTCCTCAGGCTGTA	0.358000													32	78					0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153749199	153749199	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:153749199C>T	ENST00000271857.2	+	2	2017	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Silent_p.T338T			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	338					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTCTGGCACCACGGGTGAGG	0.597000													77	41					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192208	66192208	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:66192208C>T	ENST00000311034.2	+	7	2023	c.1847C>T	c.(1846-1848)cCa>cTa	p.P616L		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	616					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GAGGCCTCTCCAGTCAAGCAG	0.587000													155	93					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973																											CTAGGTAAAGTGGGGAAGCAG	0.483000													5	173					0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66842427	66842427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:66842427G>A	ENST00000379463.2	-	18	1501	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	NAE1_ENST00000290810.3_Missense_Mutation_p.P443S|NAE1_ENST00000359087.4_Missense_Mutation_p.P446S|NAE1_ENST00000394074.2_Missense_Mutation_p.P354S	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	443					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTCTTACCTGGATATCTACCC	0.308000													54	85					0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4431025	4431025	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:4431025C>T	ENST00000304735.3	+	2	302	c.147C>T	c.(145-147)gaC>gaT	p.D49D	CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7_ENST00000574025.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	49	LRRNT.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						TGCCCCGAGACGTGCCACCCG	0.697000													8	9					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42524105	42524105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr13:42524105G>A	ENST00000379310.3	-	2	276	c.208C>T	c.(208-210)Cct>Tct	p.P70S	VWA8_ENST00000281496.6_Missense_Mutation_p.P70S	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GGATTCTTAGGAATTTTCAAC	0.264000													34	0					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335364	141335364	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:141335364A>C	ENST00000231484.3	-	1	3263	c.2053T>G	c.(2053-2055)Tta>Gta	p.L685V		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	685	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTCTGTAAGGGGGGGCTT	0.587000													10	15					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20739455	20739455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:20739455G>A	ENST00000404938.2	+	18	2814	c.2162G>A	c.(2161-2163)gGa>gAa	p.G721E	ABCB5_ENST00000258738.6_Missense_Mutation_p.G276E	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	276	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGATGTTTGGAAATAATGAT	0.294000													27	21					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6325200	6325200	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:6325200C>T	ENST00000335585.5	-	9	1196	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	PPP2R2C_ENST00000515571.1_Silent_p.R374R|PPP2R2C_ENST00000507294.1_Silent_p.R384R|PPP2R2C_ENST00000382599.4_Silent_p.R391R|PPP2R2C_ENST00000506140.1_Silent_p.R384R	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	391					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CGCACACGCGCCGTGGCTTGA	0.627000													38	21					0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	140058811	140058811	+	Silent	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:140058811A>G	ENST00000394235.2	-	3	547	c.45T>C	c.(43-45)ctT>ctC	p.L15L	ELF2_ENST00000379550.1_Silent_p.L15L|ELF2_ENST00000265495.4_Silent_p.L15L	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	15					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CATTGCTGGAAAGCTCCAAAA	0.333000													71	90					0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55943871	55943871	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:55943871G>A	ENST00000577830.1	-	10	1541	c.1128C>T	c.(1126-1128)ccC>ccT	p.P376P	CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000407144.2_Silent_p.P376P|CUEDC1_ENST00000577840.1_Silent_p.P239P|CUEDC1_ENST00000360238.2_Silent_p.P376P	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	376										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CCTCCACCTTGGGTGCCTCCT	0.632000													69	6					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314339	58314339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:58314339C>T	ENST00000219301.4	-	7	1371	c.977G>A	c.(976-978)gGa>gAa	p.G326E	CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Missense_Mutation_p.G227E|CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000567164.1_Missense_Mutation_p.G326E	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	326					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAGCTGTTTCCTAGTCGTGA	0.448000													41	54					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061767	9061767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:9061767G>A	ENST00000397910.4	-	3	25882	c.25679C>T	c.(25678-25680)tCt>tTt	p.S8560F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8562	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						GGAAGAGACAGAGCTGGCTTC	0.502000													23	16					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7383011	7383011	+	Silent	SNP	G	G	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:7383011G>C	ENST00000355637.4	+	1	261	c.9G>C	c.(7-9)gcG>gcC	p.A3A	RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.A3A|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000436368.2_Silent_p.A3A|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000422070.4_Intron	NM_145893.2	NP_665900.1	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	0					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCATGCTGGCGTCTCAAGGAG	0.478000													82	99					0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332626	16332626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:16332626G>A	ENST00000329454.2	+	2	363	c.295G>A	c.(295-297)Ggt>Agt	p.G99S		NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	99										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCCCATGGGTGGGGGATG	0.647000													59	71					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236908040	236908040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:236908040G>A	ENST00000366578.4	+	12	1536	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H	ACTN2_ENST00000542672.1_Missense_Mutation_p.R457H|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	457					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CACCAGGACCGCGTGGAGCAG	0.642000													18	307					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860230	26860230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:26860230G>A	ENST00000398145.2	-	11	1982	c.1366C>T	c.(1366-1368)Ccc>Tcc	p.P456S	HPS4_ENST00000336873.5_Missense_Mutation_p.P456S|HPS4_ENST00000398141.1_Missense_Mutation_p.P469S|HPS4_ENST00000402105.3_Missense_Mutation_p.P451S	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	456					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCTGCTCTGGGAATGGGGGCT	0.607000									Hermansky-Pudlak syndrome				161	129					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240236	3240236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:3240236G>A	ENST00000217939.6	-	5	3644	c.3490C>T	c.(3490-3492)Cac>Tac	p.H1164Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1164						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGTGCCGGTGGCGGAATTTG	0.498000													94	11					0	0	1	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478214	106478214	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:106478214G>A	ENST00000390596.2	-	0	307																											CGACTCTTGAGGGAGGGGTTG	0.577000													164	725					0	0	1	0	0
SDHD	6392	broad.mit.edu	37	11	111965693	111965693	+	Nonstop_Mutation	SNP	G	G	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:111965693G>T	ENST00000375549.3	+	4	614	c.479G>T	c.(478-480)tGa>tTa	p.*160L	SDHD_ENST00000528182.1_3'UTR|SDHD_ENST00000528048.1_3'UTR|SDHD_ENST00000526592.1_3'UTR|SDHD_ENST00000532699.1_Intron|SDHD_ENST00000525291.1_Nonstop_Mutation_p.*121L|SDHD_ENST00000528021.1_Intron	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	0					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	TGGAAGCTCTGACCTTTTTGA	0.423000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				34	24					1.21353e-23	1.23468e-23	1	1	0
TMED7	51014	broad.mit.edu	37	5	114961317	114961317	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:114961317T>C	ENST00000456936.3	-	1	553	c.173A>G	c.(172-174)aAg>aGg	p.K58R	TMED7_ENST00000503010.1_Intron|TMED7-TICAM2_ENST00000333314.3_Missense_Mutation_p.K58R|TMED7-TICAM2_ENST00000282382.4_Missense_Mutation_p.K58R|TICAM2_ENST00000408996.4_Missense_Mutation_p.K58R	NM_181836.5	NP_861974.1			transmembrane emp24 protein transport domain containing 7											breast(1)|endometrium(2)|liver(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05)		CAGGGTGCACTTGGTGCCCTG	0.617000													18	42					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919298	51919298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:51919298C>T	ENST00000353836.5	-	5	1099	c.878G>A	c.(877-879)aGa>aAa	p.R293K	CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.R210K|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.R235K|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.R293K|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.R235K|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.R293K|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.R245K	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	293	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGAGAGGACTCTGTTCTGCAG	0.652000													18	21					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17395016	17395016	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:17395016A>G	ENST00000380647.3	+	15	2648	c.2564A>G	c.(2563-2565)aAt>aGt	p.N855S	CNTLN_ENST00000425824.1_Missense_Mutation_p.N855S|CNTLN_ENST00000262360.5_Missense_Mutation_p.N855S			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	855						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTTATGAGCAATGTGTTTGAG	0.453000													37	58					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011959	141011959	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:141011959T>A	ENST00000508812.1	+	5	3235	c.1328T>A	c.(1327-1329)tTg>tAg	p.L443*	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Nonsense_Mutation_p.L435*|ACPL2_ENST00000502783.1_Nonsense_Mutation_p.L414*|ACPL2_ENST00000286353.4_Nonsense_Mutation_p.L452*|ACPL2_ENST00000393007.1_Nonsense_Mutation_p.L436*|ACPL2_ENST00000393010.2_Nonsense_Mutation_p.L452*			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	452						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CTTGAAAACTTGGTCCGCTTT	0.483000													99	50					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28599287	28599287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:28599287C>T	ENST00000253063.3	+	5	1054	c.733C>T	c.(733-735)Ccg>Tcg	p.P245S		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	245					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCAGGGACCCGTTGAACAA	0.612000													19	20					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623791	100623791	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:100623791C>A	ENST00000317233.4	-	5	541	c.306G>T	c.(304-306)caG>caT	p.Q102H	AFF3_ENST00000409236.1_Missense_Mutation_p.Q102H|AFF3_ENST00000409579.1_Missense_Mutation_p.Q127H|AFF3_ENST00000356421.2_Missense_Mutation_p.Q127H	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	102					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCACAGGAGTCTGAGGAACCC	0.443000													35	33					4.32679e-17	4.37871e-17	1	1	0
CCDC102B	79839	broad.mit.edu	37	18	66721281	66721281	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:66721281G>A	ENST00000360242.5	+	8	1566	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L	CCDC102B_ENST00000319445.6_Silent_p.L483L	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	483										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ATGATTCCCTGAATCAGATCC	0.368000													33	15					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141803141	141803141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:141803141G>A	ENST00000475668.2	+	70	8140	c.8086G>A	c.(8086-8088)Gaa>Aaa	p.E2696K	MGAM_ENST00000549489.2_Missense_Mutation_p.E1800K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1800					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)	GGGCTACATTGAAATCTGGGG	0.428000													11	41					0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35349802	35349802	+	Splice_Site	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:35349802C>T	ENST00000374748.1	-	5	630	c.317_splice	c.e5+1	p.R106_splice	CUL2_ENST00000374742.1_Splice_Site_p.R106_splice|CUL2_ENST00000537177.1_Splice_Site_p.R125_splice|CUL2_ENST00000374749.3_Splice_Site_p.R106_splice|CUL2_ENST00000374751.3_Splice_Site_p.R106_splice|CUL2_ENST00000602371.1_Splice_Site_p.R49_splice|CUL2_ENST00000374746.1_Splice_Site_p.R106_splice			Q13617	CUL2_HUMAN	cullin 2	106					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GCACACTCACCTATATAAGCA	0.378000													40	50					0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187465	62187465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:62187465G>A	ENST00000370098.3	+	2	541	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	C20orf195_ENST00000370097.1_Missense_Mutation_p.R150Q	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	150										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCAGACCCACGGCCCTTCCTG	0.682000													21	38					0	0	1	0	0
RPL18A	6142	broad.mit.edu	37	19	17972140	17972140	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:17972140C>T	ENST00000600147.1	+	2	93	c.57C>T	c.(55-57)acC>acT	p.T19T	RPL18A_ENST00000222247.5_Silent_p.T19T|RPL18A_ENST00000599870.1_5'UTR|RPL18A_ENST00000599898.1_Intron			Q02543	RL18A_HUMAN	ribosomal protein L18a	19					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GCCTGCCCACCCCCAAATGCC	0.557000													28	23					0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74013522	74013522	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:74013522G>A	ENST00000331597.4	-	3	504	c.459C>T	c.(457-459)ggC>ggT	p.G153G	P4HA3_ENST00000427714.2_Silent_p.G153G	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	153						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTCGGGCCAGGCCTTTCACAT	0.562000													212	17					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562002	145562002	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:145562002C>A	ENST00000355594.4	+	10	1777	c.1690C>A	c.(1690-1692)Cag>Aag	p.Q564K		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	564										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTTCCTTCCCAGGAGTCCAG	0.592000													38	137					2.24722e-20	2.28332e-20	1	1	0
CHD4	1108	broad.mit.edu	37	12	6701683	6701683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:6701683G>A	ENST00000309577.6	-	19	2987	c.2824C>T	c.(2824-2826)Cag>Tag	p.Q942*	CHD4_ENST00000544484.1_Nonsense_Mutation_p.Q939*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.Q935*|CHD4_ENST00000357008.2_Nonsense_Mutation_p.Q942*			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	942					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTTTTTATCTGGTCCTCCTTG	0.448000													35	116					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640409	106640409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:106640409G>A	ENST00000515279.1	+	3	839	c.619G>A	c.(619-621)Gga>Aga	p.G207R	GSTCD_ENST00000360505.5_Missense_Mutation_p.G207R|GSTCD_ENST00000507281.1_Missense_Mutation_p.G120R|GSTCD_ENST00000394730.3_Missense_Mutation_p.G120R|GSTCD_ENST00000394728.3_Missense_Mutation_p.G207R|GSTCD_ENST00000515255.1_Intron			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	207	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GAAGGCTGATGGAGTTGGGCC	0.458000													45	65					0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110763752	110763752	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:110763752C>T	ENST00000317735.4	+	6	882	c.848C>T	c.(847-849)gCa>gTa	p.A283V		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	283					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CCACTGTTTGCAAAATCTTCT	0.398000													44	60					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196765044	196765044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:196765044C>T	ENST00000312428.6	-	28	4610	c.4510G>A	c.(4510-4512)Gcc>Acc	p.A1504T		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1504	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GACTTCACGGCTCTCATTCCA	0.423000													72	101					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591542	46591542	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:46591542G>A	ENST00000398637.5	-	16	2017	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	SLC38A1_ENST00000546893.1_Silent_p.I441I|SLC38A1_ENST00000549049.1_Silent_p.I441I|SLC38A1_ENST00000439706.1_Silent_p.I441I|SLC38A1_ENST00000552197.1_Silent_p.I441I	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	441					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCTGGTCTGTGATTTTTAAAT	0.318000													21	79					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658879	49658879	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:49658879G>A	ENST00000249601.4	-	9	1589	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	ARHGAP22_ENST00000435790.2_Silent_p.S437S|ARHGAP22_ENST00000417247.2_Silent_p.S341S|ARHGAP22_ENST00000477708.2_Silent_p.S264S|ARHGAP22_ENST00000374172.1_Silent_p.S322S|ARHGAP22_ENST00000374170.1_Silent_p.S272S|ARHGAP22_ENST00000417912.2_Silent_p.S447S	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	431	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGCCGGAAGGAGGACTTCC	0.697000													11	8					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231220	42231220	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:42231220G>T	ENST00000221992.6	+	9	2207	c.2093G>T	c.(2092-2094)gGg>gTg	p.G698V	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.G697V|CEACAM5_ENST00000405816.1_Missense_Mutation_p.G698V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	698						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GTGCTGGTTGGGGTTGCTCTG	0.493000													201	446					2.02302e-115	2.08058e-115	1	1	0
GIMAP1	170575	broad.mit.edu	37	7	150417940	150417940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:150417940G>A	ENST00000307194.5	+	3	988	c.848G>A	c.(847-849)gGg>gAg	p.G283E		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCTGCTGGGGGGCGCGCTC	0.692000													11	27					0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114440554	114440554	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:114440554T>C	ENST00000369569.1	-	7	1490	c.1210A>G	c.(1210-1212)Act>Gct	p.T404A	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.T404A|AP4B1_ENST00000369567.1_Missense_Mutation_p.T236A|AP4B1_ENST00000462591.1_5'UTR	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	404					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCGGAAAGTCTGCACCACC	0.493000													37	71					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63276002	63276002	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:63276002G>A	ENST00000415491.2	+	0	544				LGALS12_ENST00000340246.5_Intron|LGALS12_ENST00000255684.5_Intron|LGALS12_ENST00000394618.3_Intron|LGALS12_ENST00000425950.2_De_novo_Start_OutOfFrame	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12						apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AACCTGCATGGATGAGTTTCT	0.473000													18	28					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95790940	95790940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:95790940G>A	ENST00000260766.3	+	2	771	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	PLCE1_ENST00000371380.2_Missense_Mutation_p.R46Q	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	46					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACTGTCAGACGAAGTGGGGAG	0.433000													23	31					0	0	1	0	0
UGT1A4	54657	broad.mit.edu	37	2	234628299	234628299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:234628299G>A	ENST00000373409.3	+	1	876	c.833G>A	c.(832-834)gGc>gAc	p.G278D	UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		TTCATTGGGGGCATCAACTGT	0.483000													129	228					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117779389	117779389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:117779389G>A	ENST00000528626.1	-	8	1188	c.1115C>T	c.(1114-1116)aCc>aTc	p.T372I	TMPRSS13_ENST00000445164.2_Missense_Mutation_p.T407I|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.T407I|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.T407I|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.T407I	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	402	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CTCCTCATCGGTGTAATTGCT	0.612000													13	0					0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2234765	2234765	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:2234765C>T	ENST00000378536.4	+	3	1209	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	SKI_ENST00000478223.2_3'UTR	NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	379					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCTCTGCTTTCCGACCCTGGT	0.592000													165	212					0	0	1	0	0
KLK11	11012	broad.mit.edu	37	19	51527622	51527622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:51527622G>A	ENST00000391804.3	-	4	262	c.217C>T	c.(217-219)Ccc>Tcc	p.P73S	KLK11_ENST00000600362.1_Intron|KLK11_ENST00000594458.1_Intron|KLK11_ENST00000453757.3_Intron|KLK11_ENST00000319720.7_Intron|KLK11_ENST00000594768.1_Intron			Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	98	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		ACATGGGTGGGAGAGGTGAGT	0.582000													41	74					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237895406	237895406	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:237895406C>T	ENST00000366574.2	+	78	11313	c.10996C>T	c.(10996-10998)Cag>Tag	p.Q3666*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.Q3664*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.Q3650*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3666					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCTCTACATCAGCTGATCCT	0.413000													27	170					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179320271	179320271	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:179320271G>A	ENST00000356834.3	-	5	811	c.774C>T	c.(772-774)ttC>ttT	p.F258F	TBC1D9B_ENST00000355235.3_Silent_p.F258F	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	258						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCCTCCAGGAAGCCCTCGC	0.622000													41	35					0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124837619	124837619	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:124837619C>T	ENST00000423114.2	-	8	992	c.993G>A	c.(991-993)gcG>gcA	p.A331A	SLC12A8_ENST00000393469.4_Silent_p.A302A|SLC12A8_ENST00000430155.2_Silent_p.A103A|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000469902.1_Silent_p.A302A|SLC12A8_ENST00000314584.7_Silent_p.A55A			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	302					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TCACCTTTTCCGCTATCAGGA	0.532000													21	19					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099233	46099233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:46099233G>A	ENST00000295452.4	-	2	405	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	80					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATATCTGGACGAAGTTTATTG	0.348000													21	23					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57206413	57206413	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:57206413C>T	ENST00000343433.6	-	13	1740	c.1660G>A	c.(1660-1662)Gat>Aat	p.D554N	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	554										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTAAATCTATCCTTTTCTTTC	0.353000													6	9					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071618	73071618	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:73071618G>A	ENST00000429829.1	-	0	970					NR_001564.2																						TAGCACAAACGACTAGCCCTA	0.468000													57	6					0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88390263	88390263	+	Splice_Site	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:88390263C>T	ENST00000298699.2	-	6	549	c.367_splice	c.e6-1	p.G123_splice	C12orf50_ENST00000550553.1_Splice_Site_p.G123_splice	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	123										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGTAGTATTCCCCTAATCAAC	0.313000													34	17					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375428	175375428	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:175375428G>A	ENST00000367674.1	-	3	1131	c.423C>T	c.(421-423)atC>atT	p.I141I	TNR_ENST00000263525.2_Silent_p.I141I	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	141					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I141I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGCATCTCGATCCGGCTCA	0.597000													77	237					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99306666	99306666	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:99306666G>A	ENST00000336374.2	-	11	1247	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	415					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ACCTTTCAGGGAGGAACTTCT	0.507000													9	59					0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130735079	130735079	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:130735079G>A	ENST00000264992.3	-	5	2059	c.1618C>T	c.(1618-1620)Cac>Tac	p.H540Y	ASTE1_ENST00000514044.1_Missense_Mutation_p.H540Y|ATP2C1_ENST00000393221.4_Silent_p.V970V|ATP2C1_ENST00000507488.2_Silent_p.V920V|ATP2C1_ENST00000328560.8_3'UTR|ATP2C1_ENST00000533801.2_Silent_p.V941V|ATP2C1_ENST00000513801.1_Silent_p.V920V|ATP2C1_ENST00000422190.2_Silent_p.V936V|ATP2C1_ENST00000359644.3_Silent_p.V946V|ATP2C1_ENST00000504381.1_Silent_p.V891V	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	540					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CAGAAGATGTGAGCTGTGTCT	0.537000													142	12					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98846550	98846550	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:98846550G>A	ENST00000477737.1	+	16	2392	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	730										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCAACCCCAGAAAAGTGTGC	0.368000													21	32					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691727	49691727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:49691727C>T	ENST00000296452.4	+	5	4852	c.4738C>T	c.(4738-4740)Ccg>Tcg	p.P1580S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1580					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCACCTCCCCGCTCTGCTC	0.622000													41	112					0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132405686	132405686	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:132405686G>A	ENST00000321867.4	+	27	3354	c.3003G>A	c.(3001-3003)gaG>gaA	p.E1001E	ULK1_ENST00000540647.1_Silent_p.E246E	NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1001					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGCACCGTGAGGGCTGCGTCC	0.662000													27	57					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285313	223285313	+	Missense_Mutation	SNP	G	G	A	rs139394912		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:223285313G>A	ENST00000540964.1	-	4	1522	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L	TLR5_ENST00000342210.6_Missense_Mutation_p.S354L			O60602	TLR5_HUMAN	toll-like receptor 5	354					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)		ATAGAAATTCGAACTGTAAAG	0.348000													136	49					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32204495	32204495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:32204495G>A	ENST00000373658.3	-	16	2880	c.2539C>T	c.(2539-2541)Cgc>Tgc	p.R847C	BAI2_ENST00000440175.2_Missense_Mutation_p.R489C|BAI2_ENST00000373655.2_Missense_Mutation_p.R847C|BAI2_ENST00000257070.4_Missense_Mutation_p.R847C|BAI2_ENST00000398538.1_Missense_Mutation_p.R835C|BAI2_ENST00000527361.1_Missense_Mutation_p.R847C|BAI2_ENST00000398556.3_Missense_Mutation_p.R795C|BAI2_ENST00000398542.1_Missense_Mutation_p.R780C|BAI2_ENST00000398547.1_Missense_Mutation_p.R780C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	847					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTAGGGGGGCGCACAGTCACT	0.627000													5	235					0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3281236	3281236	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:3281236G>A	ENST00000541430.2	+	6	679	c.643G>A	c.(643-645)Gac>Aac	p.D215N	CELF5_ENST00000292672.2_Missense_Mutation_p.D215N	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	215					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CGCCGACACGGACAAGGAGCG	0.677000													139	94					0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158140087	158140087	+	Silent	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:158140087T>C	ENST00000313708.6	-	13	1542	c.1260A>G	c.(1258-1260)caA>caG	p.Q420Q	EBF1_ENST00000517373.1_Silent_p.Q412Q|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.Q389Q	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	420					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCGGGAGTTGGTTGTGGT	0.552000			T	HMGA2	lipoma								42	71					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36596731	36596731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:36596731C>T	ENST00000299440.5	+	2	1989	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	626					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTCCGTTTTTCATTCACAATC	0.458000									Familial Hemophagocytic Lymphohistiocytosis				57	60					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972505	92972505	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:92972505C>T	ENST00000523629.1	-	12	2234	c.1780G>A	c.(1780-1782)Gga>Aga	p.G594R	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.G605R|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.G557R|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.G567R|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.G557R|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.G567R|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.G557R|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.G594R	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)	594					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GAAGGGGTTCCCGGGGTGGTT	0.592000													18	4					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21136605	21136605	+	Missense_Mutation	SNP	C	C	T	rs139455188	by1000genomes	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:21136605C>T	ENST00000261383.3	-	9	1294	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	DNAH3_ENST00000415178.1_Missense_Mutation_p.R432Q|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	432	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R432Q(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCAATGTTTCGACTTGAGTC	0.473000													62	68					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1592059	1592059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:1592059C>T	ENST00000279477.7	-	2	441	c.377G>A	c.(376-378)gGg>gAg	p.G126E	SIRPB1_ENST00000568365.1_Missense_Mutation_p.G126E|SIRPB1_ENST00000381605.4_Intron|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	126	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GTCGGGGCTCCCTTTCCGGAA	0.537000													105	56					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124311333	124311333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:124311333C>T	ENST00000409039.3	+	24	3950	c.3925C>T	c.(3925-3927)Cct>Tct	p.P1309S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1309	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGAAAGCTACCTCGGCCAGT	0.453000													51	119					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1418756	1418756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:1418756G>A	ENST00000446702.2	+	17	2790	c.2163G>A	c.(2161-2163)tgG>tgA	p.W721*	CNTN6_ENST00000539053.1_Nonsense_Mutation_p.W649*|CNTN6_ENST00000350110.2_Nonsense_Mutation_p.W721*			Q9UQ52	CNTN6_HUMAN	contactin 6	721	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.W721*(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TCATTACGTGGGAGGTAATTT	0.388000													32	101					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420957	55420957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:55420957G>A	ENST00000242994.3	+	2	1112	c.734G>A	c.(733-735)aGt>aAt	p.S245N		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	245					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCTGACTGCAGTACACCCCCT	0.507000													38	23					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11510622	11510622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:11510622G>A	ENST00000380456.3	-	16	1718	c.1655C>T	c.(1654-1656)tCc>tTc	p.S552F	RGL3_ENST00000393423.3_Missense_Mutation_p.S558F	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	552	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TGACCCTGGGGACACACTGGG	0.637000													59	147					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74828890	74828890	+	Silent	SNP	G	G	A	rs150730275		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:74828890G>A	ENST00000358399.3	+	5	654	c.561G>A	c.(559-561)tcG>tcA	p.S187S	GDA_ENST00000238018.4_Silent_p.S187S|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Silent_p.S113S|GDA_ENST00000376989.3_Silent_p.S162S|GDA_ENST00000376986.1_Silent_p.S145S	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	187					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTGAGGAATCGATCAAGGAAA	0.408000													40	27					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31019011	31019011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:31019011C>T	ENST00000215838.3	+	8	1657	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V	TCN2_ENST00000405742.3_Missense_Mutation_p.A384V|TCN2_ENST00000407817.3_Missense_Mutation_p.A361V			P20062	TCO2_HUMAN	transcobalamin II	388					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	p.A388V(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGGGAAAGCGGCCGGAGAA	0.562000													61	127					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762534	131762534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:131762534C>T	ENST00000370836.2	-	4	1950	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	HS6ST2_ENST00000406696.3_Missense_Mutation_p.R238Q|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R552Q|HS6ST2_ENST00000370837.1_Missense_Mutation_p.R366Q|HS6ST2_ENST00000370833.2_Missense_Mutation_p.R406Q	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	512						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CTGACGCTTTCGCCTGGCCTC	0.488000													46	2					0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130670704	130670704	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:130670704G>A	ENST00000335791.5	-	6	1151	c.876C>T	c.(874-876)atC>atT	p.I292I	ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_Silent_p.I208I	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	292					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGGCGAACACGATGGGCCTCT	0.637000													42	69					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980907	121980907	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:121980907C>T	ENST00000498619.1	+	4	1463	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	CASR_ENST00000490131.1_Missense_Mutation_p.S342F|CASR_ENST00000296154.5_Missense_Mutation_p.S342F	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	342					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCCAGGAAGTCTGTCCACAAT	0.512000													57	6					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15124564	15124564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:15124564G>A	ENST00000292574.3	+	2	733	c.651G>A	c.(649-651)atG>atA	p.M217I		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	217					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGAGAGATATGGAAAAATCAG	0.498000													24	19					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51219675	51219675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:51219675C>T	ENST00000293441.1	-	2	334	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	SHANK1_ENST00000359082.3_Missense_Mutation_p.A106T|SHANK1_ENST00000391814.1_Missense_Mutation_p.A106T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	106					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCGCTCAGGGCACAGAGCACC	0.637000													30	95					0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20409705	20409705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr13:20409705G>A	ENST00000337963.4	-	7	1427	c.1163C>T	c.(1162-1164)cCt>cTt	p.P388L		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	388						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTCTTACTAGGCATGTACTC	0.373000													150	11					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133225929	133225929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:133225929G>A	ENST00000320574.5	-	31	4011	c.3968C>T	c.(3967-3969)gCc>gTc	p.A1323V	POLE_ENST00000535270.1_Missense_Mutation_p.A1296V	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1323					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GATGCTGCGGGCAGTTCTTCG	0.647000								DNA polymerases (catalytic subunits)					36	67					0	0	1	0	0
PIH1D3	139212	broad.mit.edu	37	X	106482179	106482179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:106482179C>T	ENST00000535523.1	+	7	794	c.457C>T	c.(457-459)Cct>Tct	p.P153S	PIH1D3_ENST00000372453.3_Missense_Mutation_p.P153S|PIH1D3_ENST00000336387.4_Missense_Mutation_p.P153S	NM_001169154.1	NP_001162625.1			PIH1 domain containing 3																		AAATACAAACCCTTCTGATAT	0.294000													15	2					0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64970529	64970529	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:64970529C>T	ENST00000326648.3	+	5	3745	c.3617C>T	c.(3616-3618)cCc>cTc	p.P1206L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1206						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCAAGGAGCCCCGGCCAAGT	0.582000													70	106					0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49043552	49043552	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:49043552G>A	ENST00000343546.4	+	8	1771	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	P4HTM_ENST00000383729.4_Missense_Mutation_p.G407E	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	407						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGTGACAAGGGAAACCTGCGT	0.607000													122	101					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564027	46564027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:46564027G>A	ENST00000458649.2	-	7	1958	c.1540C>T	c.(1540-1542)Cag>Tag	p.Q514*	AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q514*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q424*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q514*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q514*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q424*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q514*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	514					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCCAGCTCCTGAAGCCGGTCA	0.552000													71	55					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75514826	75514826	+	Silent	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:75514826A>G	ENST00000355774.2	-	2	1748	c.1533T>C	c.(1531-1533)ccT>ccC	p.P511P	MLH3_ENST00000556740.1_Silent_p.P511P|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Silent_p.P511P|MLH3_ENST00000556257.1_Silent_p.P511P	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	511					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTGTCTGAAAAGGGCTTAAAA	0.378000								Mismatch excision repair (MMR)					3	106					0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66807384	66807384	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:66807384G>A	ENST00000393946.2	+	7	1493	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Missense_Mutation_p.G111R|SYT12_ENST00000527043.1_Missense_Mutation_p.G111R			Q8IV01	SYT12_HUMAN	synaptotagmin XII	111						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CAGTGAACTGGGGCCTCTGGA	0.647000													58	114					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516170	78516170	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:78516170C>T	ENST00000397909.2	+	16	4373	c.4200C>T	c.(4198-4200)ctC>ctT	p.L1400L	NAV3_ENST00000228327.6_Silent_p.L1400L|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Silent_p.L1400L			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1400	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAGCCTGCTCATGAGAACGG	0.552000										HNSCC(70;0.22)			62	161					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5064884	5064884	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:5064884C>T	ENST00000251170.7	+	16	2184	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	668	Ser-rich.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCCTGGAATCCTGCACCAGCG	0.637000													50	54					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38964173	38964173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:38964173C>T	ENST00000355481.4	+	28	4053	c.3922C>T	c.(3922-3924)Ccg>Tcg	p.P1308S	RYR1_ENST00000359596.3_Missense_Mutation_p.P1308S|RYR1_ENST00000360985.3_Missense_Mutation_p.P1308S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1308	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGGGCCACCCCGCTGGCACC	0.701000													17	9					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129867989	129867989	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:129867989G>A	ENST00000254667.3	+	13	1320	c.1041G>A	c.(1039-1041)gtG>gtA	p.V347V	PTPRE_ENST00000306042.5_Silent_p.V289V|PTPRE_ENST00000419012.2_Silent_p.V347V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	347	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CCTTCATTGTGATCGATGCCA	0.552000											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	101	146					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34678000	34678000	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:34678000G>A	ENST00000488417.1	+	6	1834	c.1714G>A	c.(1714-1716)Gga>Aga	p.G572R	C1orf94_ENST00000373374.3_Missense_Mutation_p.G382R	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	382							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTTTCCCCAAGGATATGGGTG	0.562000													31	43					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77623970	77623970	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:77623970C>T	ENST00000316249.3	+	1	303	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	101					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CGCTGGCCTTCCGCGACGAGC	0.751000													4	8					0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91017317	91017317	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:91017317C>T	ENST00000268182.5	+	22	2651	c.2527C>T	c.(2527-2529)Cag>Tag	p.Q843*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q271*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	843	IQ 4.				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)			TATCAAAATCCAGGCTTTTAT	0.423000													9	41					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196977706	196977706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:196977706G>A	ENST00000367414.5	+	10	1731	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	CFHR5_ENST00000256785.4_Missense_Mutation_p.D535N	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	535	Sushi 9.				complement activation, alternative pathway	extracellular region		p.D535N(1)		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						AAAAACAGGGGATGCTGTTGA	0.363000													21	122					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	336800	336800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:336800G>A	ENST00000343164.4	-	8	918	c.866C>T	c.(865-867)tCc>tTc	p.S289F	SLC6A13_ENST00000445055.2_Missense_Mutation_p.S197F	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	289					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GATGGCGAAGGAGAAGAATAT	0.567000													51	35					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690452	99690452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:99690452C>T	ENST00000524871.1	+	4	523	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CNTN5_ENST00000527185.1_Missense_Mutation_p.S78F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S78F|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.S78F	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	78					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.S78F(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTATTATTCCCCCATCAAT	0.438000													9	5					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6701684	6701684	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:6701684G>A	ENST00000309577.6	-	19	2986	c.2823C>T	c.(2821-2823)gaC>gaT	p.D941D	CHD4_ENST00000544484.1_Silent_p.D938D|CHD4_ENST00000544040.1_Silent_p.D934D|CHD4_ENST00000357008.2_Silent_p.D941D			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	941					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTTTTATCTGGTCCTCCTTGG	0.443000													34	117					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998881	120998881	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:120998881C>T	ENST00000392793.1	+	9	2466	c.2195C>T	c.(2194-2196)cCc>cTc	p.P732L	TECTA_ENST00000264037.2_Missense_Mutation_p.P732L			O75443	TECTA_HUMAN	tectorin alpha	732	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TACGCCTTCCCCTCCGAGTTC	0.612000													129	20					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17152971	17152971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:17152971G>A	ENST00000377833.4	-	9	1027	c.962C>T	c.(961-963)cCc>cTc	p.P321L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	321	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACTCAACGGGTGGAGCCAC	0.507000													39	62					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93522380	93522380	+	Silent	SNP	T	T	C	rs112279925		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:93522380T>C	ENST00000394196.4	+	22	3811	c.2743T>C	c.(2743-2745)Tta>Cta	p.L915L	CHD2_ENST00000557381.1_Silent_p.L915L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	915	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TATTTACCGCTTAGTTACAAA	0.463000													197	131					0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674527	4674527	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:4674527C>T	ENST00000396952.5	+	2	1421	c.771C>T	c.(769-771)ttC>ttT	p.F257F	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTACCTTTCATTGGATTGT	0.507000													94	125					0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41248704	41248704	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:41248704G>A	ENST00000591620.1	-	3	620	c.594C>T	c.(592-594)atC>atT	p.I198I	TREM1_ENST00000334475.6_Intron|TREM1_ENST00000244709.4_Silent_p.I198I|TREM1_ENST00000589614.1_Silent_p.I198I	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	198					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	TATACCTGATGATATCTGTCA	0.512000													90	6					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72984850	72984850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:72984850G>A	ENST00000268489.5	-	3	3406	c.2734C>T	c.(2734-2736)Ccc>Tcc	p.P912S	ZFHX3_ENST00000397992.5_5'UTR	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	912					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATGTCTAGGGGGATCTCACCG	0.647000													66	83					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529841	140529841	+	Translation_Start_Site	SNP	G	G	A	rs147980996	by1000genomes	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140529841G>A	ENST00000543635.1	+	0	159				PCDHB6_ENST00000231136.1_Start_Codon_SNP_p.M1I			Q9Y5E3	PCDB6_HUMAN							calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATAGACATGATGCAAACTA	0.398000													30	44					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037015	75037015	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:75037015C>T	ENST00000326665.5	-	14	4597	c.4379G>A	c.(4378-4380)gGg>gAg	p.G1460E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1460	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						ATCGCCACTCCCAGTGGCTGC	0.607000													95	103					0	0	1	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95111385	95111385	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:95111385C>T	ENST00000469935.1	+	0	1205					NR_015340.1																						TGGAGGCTTCCCTGGGCAGCC	0.502000													45	29					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42276872	42276872	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:42276872C>T	ENST00000361204.4	+	10	2080	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	638					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTGGCTGCTCAAGAAAGTCT	0.662000													31	52					0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92247472	92247472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:92247472G>A	ENST00000265734.4	-	7	1159	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	CDK6_ENST00000424848.2_Missense_Mutation_p.P250S	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	250	Protein kinase.				cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCCTGCCTGGGAAGGGCAACA	0.438000			T	MLLT10	ALL								17	52					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237240134	237240134	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:237240134G>A	ENST00000409907.3	-	18	2515	c.2241C>T	c.(2239-2241)gtC>gtT	p.V747V	IQCA1_ENST00000431676.2_Silent_p.V706V|IQCA1_ENST00000309507.5_Silent_p.V744V			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	747							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TAACCACTTCGACTATATGTC	0.493000													51	71					0	0	1	0	0
EFHD1	80303	broad.mit.edu	37	2	233527636	233527636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:233527636G>A	ENST00000264059.3	+	2	904	c.427G>A	c.(427-429)Gat>Aat	p.D143N	EFHD1_ENST00000410095.1_Missense_Mutation_p.D31N|EFHD1_ENST00000409613.1_Missense_Mutation_p.D47N|EFHD1_ENST00000409708.1_Missense_Mutation_p.D31N	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	143	EF-hand 2.						calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		TGAGGACTTCGATGGCAAGCT	0.622000													22	31					0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43011673	43011673	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:43011673C>T	ENST00000587309.1	-	6	836	c.813G>A	c.(811-813)ctG>ctA	p.L271L	KIF18B_ENST00000590129.1_Silent_p.L280L|KIF18B_ENST00000438933.2_Silent_p.L271L|KIF18B_ENST00000339151.4_Silent_p.L271L|KIF18B_ENST00000593135.1_Silent_p.L271L	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CCCCCTCCCGCAGCCGCTCCC	0.617000													18	23					0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27183362	27183362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:27183362C>T	ENST00000254928.5	+	2	461	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S	ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	122					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CCTGGGAGCCCCGAATGCAGG	0.522000													182	11					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3067469	3067469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:3067469C>T	ENST00000356443.4	-	38	5182	c.4849G>A	c.(4849-4851)Gac>Aac	p.D1617N	MYOM1_ENST00000261606.7_Missense_Mutation_p.D1521N|MYOM1_ENST00000400569.3_Missense_Mutation_p.D1617N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1617	Ig-like C2-type 5.			D -> G (in Ref. 2; BAC86128).		striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGCAGTGGTCGTCTGAGGCC	0.582000													37	77					0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179147	3179147	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:3179147C>T	ENST00000246115.3	+	1	412	c.357C>T	c.(355-357)ttC>ttT	p.F119F	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	119					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.F119F(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCCAGTGGTTCCTACGGGAGG	0.697000													49	104					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737408	4737408	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:4737408G>A	ENST00000545990.2	-	5	1184	c.660C>T	c.(658-660)atC>atT	p.I220I	AKAP3_ENST00000228850.1_Silent_p.I220I	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	220					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TGCTCTCCTTGATCTTCAAAG	0.458000													49	110					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56047331	56047331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:56047331G>A	ENST00000244728.5	-	2	483	c.86C>T	c.(85-87)tCa>tTa	p.S29L	COL21A1_ENST00000370819.1_Missense_Mutation_p.S29L|COL21A1_ENST00000535941.1_Missense_Mutation_p.S29L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	29					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTCTTACTTGATCTTACTTC	0.348000													6	13					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452365	10452365	+	Missense_Mutation	SNP	C	C	T	rs41293357		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:10452365C>T	ENST00000397077.1	-	5	909	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ATP2B2_ENST00000383800.4_Missense_Mutation_p.E112K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E112K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E112K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E112K			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	112					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCGGCAATCTCCAGGATGATG	0.572000													334	179					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531194	42531194	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:42531194C>G	ENST00000282030.5	+	4	2185	c.1889C>G	c.(1888-1890)gCg>gGg	p.A630G		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	630						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CGCAATTTAGCGAAGTTGGCC	0.512000									Schinzel-Giedion syndrome				61	49					0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100817857	100817857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:100817857C>T	ENST00000300303.2	-	2	470	c.232G>A	c.(232-234)Gac>Aac	p.D78N	NAT16_ENST00000443096.1_Missense_Mutation_p.D78N|NAT16_ENST00000455377.1_Missense_Mutation_p.D78N	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	78	N-acetyltransferase.						N-acetyltransferase activity										GGAAGGTAGTCCAGGCCGCCG	0.697000													39	111					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107692560	107692560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:107692560G>A	ENST00000388781.3	-	26	3981	c.3898C>T	c.(3898-3900)Ctt>Ttt	p.L1300F	LAMB4_ENST00000205386.4_Missense_Mutation_p.L1300F|LAMB4_ENST00000388780.3_Missense_Mutation_p.L1300F	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1300	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTGCATTAAGGACACTGGAT	0.388000													80	225					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794744	55794744	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:55794744C>T	ENST00000379665.2	+	1	531	c.432C>T	c.(430-432)atC>atT	p.I144I		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCTTGTAATCAGCTCCTGGC	0.428000													129	87					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562694	29562694	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:29562694G>A	ENST00000358273.4	+	28	4157	c.3774G>A	c.(3772-3774)tgG>tgA	p.W1258*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W1258*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1258	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.W1258*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACTGCTCTGGAACATGTTTT	0.408000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			245	34					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163824	159163824	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:159163824G>A	ENST00000368125.4	+	5	842	c.685G>A	c.(685-687)Gtt>Att	p.V229I	CADM3_ENST00000368124.4_Missense_Mutation_p.V263I	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	229					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACGCATTGAAGTTTTATGTAT	0.493000													100	56					0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128178	20128178	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:20128178C>T	ENST00000334554.7	+	6	840	c.699C>T	c.(697-699)acC>acT	p.T233T	ZDHHC8_ENST00000405930.3_Silent_p.T233T|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Silent_p.T141T	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	233						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					ACCCTTTCACCCGAGGCTGCT	0.701000													22	30					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1418755	1418755	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:1418755G>C	ENST00000446702.2	+	17	2789	c.2162G>C	c.(2161-2163)tGg>tCg	p.W721S	CNTN6_ENST00000539053.1_Missense_Mutation_p.W649S|CNTN6_ENST00000350110.2_Missense_Mutation_p.W721S			Q9UQ52	CNTN6_HUMAN	contactin 6	721	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCATTACGTGGGAGGTAATT	0.388000													32	104					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141656	133141656	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:133141656C>T	ENST00000388996.4	-	15	2892	c.2472G>A	c.(2470-2472)tcG>tcA	p.S824S	KCNQ3_ENST00000521134.1_Silent_p.S704S|KCNQ3_ENST00000519445.1_Silent_p.S812S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	824					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCATCCAGCTCGACCCCCCAT	0.622000													43	8					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073355	40073355	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:40073355C>T	ENST00000336649.4	+	33	4882	c.4882C>T	c.(4882-4884)Ctg>Ttg	p.L1628L	CACNA1I_ENST00000407673.1_Silent_p.L1587L|CACNA1I_ENST00000404898.1_Silent_p.L1587L|CACNA1I_ENST00000402142.3_Silent_p.L1622L|CACNA1I_ENST00000401624.1_Silent_p.L1622L|CACNA1I_ENST00000400164.3_Silent_p.L1587L			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1622					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTGGGCAACCTGGGCCTCCT	0.677000													8	29					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131008070	131008070	+	Silent	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:131008070T>C	ENST00000307968.7	-	13	1982	c.1983A>G	c.(1981-1983)gtA>gtG	p.V661V	FNIP1_ENST00000307954.8_Silent_p.V644V|FNIP1_ENST00000510461.1_Silent_p.V689V|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CACATTTGTCTACTGGAACAG	0.413000													128	294					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150482583	150482583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:150482583C>T	ENST00000369047.4	+	5	435	c.310C>T	c.(310-312)Ccc>Tcc	p.P104S	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.P104S|ECM1_ENST00000369049.4_Missense_Mutation_p.P131S	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	104					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCAGTGGGTCCCCCTCTCCC	0.582000													387	155					0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117660703	117660703	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:117660703A>T	ENST00000256649.4	-	2	1701	c.1175T>A	c.(1174-1176)aTt>aAt	p.I392N	TRIM45_ENST00000369461.3_Missense_Mutation_p.I335N|TRIM45_ENST00000369464.3_Intron	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	392						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TTTGGTATTAATCGTACCATA	0.468000													60	68					0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89390208	89390208	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:89390208C>T	ENST00000336596.2	+	4	1182	c.957C>T	c.(955-957)tcC>tcT	p.S319S	EPHA3_ENST00000494014.1_Silent_p.S319S|EPHA3_ENST00000452448.2_Silent_p.S319S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	319	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCCTCCATCCATGGCTTGTA	0.438000										TSP Lung(6;0.00050)			153	111					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1048932	1048932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:1048932C>T	ENST00000263094.6	+	17	2539	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	ABCA7_ENST00000433129.1_Missense_Mutation_p.R770W|ABCA7_ENST00000435683.2_Missense_Mutation_p.R632W	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	770					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)		TTTTCCTTTTCGGAGGAGCTA	0.612000													21	17					0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124189437	124189437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:124189437C>T	ENST00000368990.3	+	12	1329	c.1198C>T	c.(1198-1200)Ccg>Tcg	p.P400S	PLEKHA1_ENST00000368988.1_3'UTR|PLEKHA1_ENST00000368989.2_3'UTR|PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.P400S	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	400					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCGAGCCTTCCGGTCAGTGA	0.507000													36	38					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840940	36840940	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:36840940C>T	ENST00000557188.1	+	0	571																											GGGCGGAGTTCGTACGCATGA	0.458000													43	34					0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590856	172590856	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:172590856C>T	ENST00000231668.9	+	7	852	c.748C>T	c.(748-750)Ctt>Ttt	p.L250F	BNIP1_ENST00000351486.5_Missense_Mutation_p.L207F|BNIP1_ENST00000352523.6_Missense_Mutation_p.L216F|BNIP1_ENST00000393770.4_Missense_Mutation_p.L173F	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	207					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTCATCTTCCTTGCGCTAGC	0.488000													40	108					0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50100934	50100934	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:50100934T>C	ENST00000298292.8	-	1	1014	c.934A>G	c.(934-936)Agg>Ggg	p.R312G	DNAAF2_ENST00000406043.3_Missense_Mutation_p.R312G	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	312					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TCAGGTTTCCTCGAGTCGAGG	0.647000													20	40					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131859707	131859707	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:131859707G>A	ENST00000286355.5	-	11	4557	c.2465C>T	c.(2464-2466)tCc>tTc	p.S822F	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	822					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACAGCTGAGGAATTGAAAGT	0.383000										HNSCC(32;0.087)			28	3					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317890	9317890	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:9317890G>A	ENST00000261336.2	-	19	2360	c.2332C>T	c.(2332-2334)Ctg>Ttg	p.L778L	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.L647L	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTTCGGACAGGCAGAAGGCC	0.562000													67	157					0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24003489	24003489	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:24003489C>T	ENST00000312521.4	+	5	858	c.539C>T	c.(538-540)cCt>cTt	p.P180L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	180					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GGTCGTATTCCTAAGCGTGAA	0.338000													35	25					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122831408	122831408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:122831408G>A	ENST00000264811.5	-	5	1892	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	TRPC3_ENST00000379645.3_Missense_Mutation_p.L565F|TRPC3_ENST00000513531.1_Missense_Mutation_p.L437F	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	480					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTTGCCTGAAGGAAAGCTAGG	0.468000													37	57					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61571002	61571002	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:61571002G>A	ENST00000398571.2	-	16	2524	c.2448C>T	c.(2446-2448)ctC>ctT	p.L816L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	816					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GATGTTGTTGGAGGTGAGATG	0.363000													41	51					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65321219	65321219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:65321219G>A	ENST00000301873.5	-	3	1085	c.817C>T	c.(817-819)Cag>Tag	p.Q273*	LTBP3_ENST00000322147.4_Nonsense_Mutation_p.Q273*|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	273						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						AGGGGCTTCTGGGTGGGCGGC	0.667000													9	21					0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4794101	4794101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:4794101C>T	ENST00000328914.4	+	3	758	c.758C>T	c.(757-759)tCc>tTc	p.S253F	FOXK1_ENST00000446823.1_Missense_Mutation_p.S90F	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	253					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GTCCCCAACTCCTGCCCAGCC	0.622000													43	109					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27422981	27422981	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:27422981G>A	ENST00000326799.3	-	8	1081	c.933C>T	c.(931-933)aaC>aaT	p.N311N	YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000375972.3_Silent_p.N221N|YME1L1_ENST00000376016.3_Silent_p.N254N	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	311					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATAAAAATGGGTTTTTTAGAA	0.328000													10	17					0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166472	71166472	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:71166472G>A	ENST00000357585.2	+	2	1383	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G	SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	338					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CAGATGATGGGGAGCGGAGTG	0.527000													81	5					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537612	54537612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:54537612C>T	ENST00000474759.1	+	5	523	c.475C>T	c.(475-477)Cat>Tat	p.H159Y	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.H65Y|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.H159Y|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.H159Y	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	159						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.H159D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCCAAATGACCATTTTAATAA	0.403000													51	32					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193752	7193752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:7193752G>A	ENST00000007699.5	-	5	625	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	188	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GCAACTGAGGGAGGCCGGGGG	0.657000													94	9					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029377	83029377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:83029377C>T	ENST00000307792.3	-	11	1800	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D385N	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	445	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TATTGGCCATCCTCAGCTTCC	0.343000													52	151					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18675859	18675859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:18675859G>A	ENST00000380548.4	+	10	1429	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.G364R|ADAMTSL1_ENST00000380566.4_Intron|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.G364R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	364						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TAACAGTGACGGATACAAGCA	0.363000													41	68					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729139	18729139	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:18729139T>C	ENST00000440756.2	-	3	1337	c.1235A>G	c.(1234-1236)gAa>gGa	p.E412G	PSD3_ENST00000523619.1_Missense_Mutation_p.E347G|PSD3_ENST00000327040.8_Missense_Mutation_p.E412G			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	412					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGCTCACCTTTCCCTGTCTCT	0.443000													96	62					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17515900	17515900	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:17515900C>T	ENST00000005226.7	-	27	2678	c.2679G>A	c.(2677-2679)agG>agA	p.R893R	USH1C_ENST00000527020.1_3'UTR|USH1C_ENST00000318024.4_3'UTR|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_3'UTR	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTTGGTTTCCCCTTTTGGACT	0.562000													21	23					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207557952	207557952	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:207557952C>T	ENST00000452335.2	-	9	1043	c.927G>A	c.(925-927)caG>caA	p.Q309Q		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	309						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCAGCAGCTGCTGCCTTCTCG	0.552000													13	19					0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23842934	23842934	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:23842934G>A	ENST00000361729.2	-	6	1364	c.938C>T	c.(937-939)cCt>cTt	p.P313L	E2F2_ENST00000487237.1_5'UTR	NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	313					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTCCTCGGAAGGACTGTCCGG	0.622000													20	29					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220290683	220290683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:220290683G>A	ENST00000373960.3	+	9	1470	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	AC053503.6_ENST00000431827.1_RNA	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	462	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTCAGTGAGGCCACACAGCA	0.612000													75	79					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416285	153416285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:153416285G>A	ENST00000369951.4	+	2	330	c.270G>A	c.(268-270)tgG>tgA	p.W90*	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	90					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCTGAACTGGATCCTGGTGA	0.572000													59	3					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187362	140187362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140187362G>A	ENST00000530339.1	+	1	590	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R197Q|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R197Q|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTATATTACGGAAATCTTTA	0.463000													42	38					0	0	1	0	0
SELT	51714	broad.mit.edu	37	3	150321206	150321206	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:150321206C>T	ENST00000471696.1	+	1	132	c.57C>T	c.(55-57)gcC>gcT	p.A19A	SELT_ENST00000485923.1_5'UTR|SELT_ENST00000480740.1_Intron|SELT_ENST00000477889.1_5'UTR	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		19					cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAGCGAGGCCTCGGCCAATC	0.607000													41	14					0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162313646	162313646	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:162313646C>T	ENST00000361897.5	+	6	877	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	NOS1AP_ENST00000530878.1_Missense_Mutation_p.R154W	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	159	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)			GAGAATCGTTCGGACGGTGGG	0.557000													79	258					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190408	72190408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:72190408G>A	ENST00000555818.1	+	16	4664	c.4316G>A	c.(4315-4317)aGt>aAt	p.S1439N	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S893N|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1418N|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1418N	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1439	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTTTTCACCAGTGCCCGGAGT	0.537000													104	65					0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944619	4944619	+	Splice_Site	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:4944619C>T	ENST00000345988.2	-	12	1332	c.1242_splice	c.e12-1	p.G415_splice	PPL_ENST00000590782.2_Splice_Site_p.G413_splice	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	415					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAGATCAGGCCCTGGCGGGGG	0.677000													29	29					0	0	1	0	0
SAP30BP	29115	broad.mit.edu	37	17	73700872	73700872	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:73700872A>G	ENST00000584667.1	+	9	895	c.638A>G	c.(637-639)aAg>aGg	p.K213R	SAP30BP_ENST00000355423.3_Missense_Mutation_p.K197R	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	213					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAATTGGAAAAGGCCAAAAAG	0.512000													3	96					0	0	1	0	0
C1orf27	54953	broad.mit.edu	37	1	186352158	186352158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:186352158C>T	ENST00000367470.3	+	3	340	c.104C>T	c.(103-105)tCg>tTg	p.S35L	C1orf27_ENST00000432021.3_Missense_Mutation_p.S35L|C1orf27_ENST00000287859.6_Missense_Mutation_p.S35L|C1orf27_ENST00000419367.3_Missense_Mutation_p.S35L	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	35						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TTGAAGTGTTCGTCACAAAAG	0.368000													22	4					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75303273	75303273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:75303273G>A	ENST00000427177.1	+	2	196	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000431235.2_5'UTR	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	24					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGACTCCAGTGGCCCAGGTAG	0.642000													127	9					0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135984192	135984192	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:135984192G>A	ENST00000393160.3	-	5	834	c.481C>T	c.(481-483)Ccg>Tcg	p.P161S	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Missense_Mutation_p.P187S|RALGDS_ENST00000393157.3_Missense_Mutation_p.P215S|RALGDS_ENST00000372050.3_Missense_Mutation_p.P216S|RALGDS_ENST00000372047.3_Missense_Mutation_p.P204S|RALGDS_ENST00000542690.1_Missense_Mutation_p.P287S	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	216	N-terminal Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGAAAGTCCGGAGGTTGACAG	0.637000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								33	49					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91162512	91162512	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:91162512C>T	ENST00000546318.1	+	2	1674	c.387C>T	c.(385-387)gcC>gcT	p.A129A	IFIT1_ENST00000371804.3_Silent_p.A160A|LIPA_ENST00000371837.1_Intron	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	160					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						ATGAACGGGCCAAGGCCTGCT	0.483000													46	59					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72832404	72832404	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:72832404C>A	ENST00000268489.5	-	9	4849	c.4177G>T	c.(4177-4179)Gtg>Ttg	p.V1393L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.V479L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1393					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGATCTGACACCGGCAGCTGA	0.493000													38	56					1.57945e-13	1.58993e-13	1	1	0
OR52E4	390081	broad.mit.edu	37	11	5906360	5906360	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5906360C>A	ENST00000316987.2	+	1	860	c.838C>A	c.(838-840)Ctg>Atg	p.L280M		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGGCTAACCTGTATGTGGT	0.398000													30	97					2.85442e-18	2.89639e-18	1	1	0
PPP2R2C	5522	broad.mit.edu	37	4	6349649	6349649	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:6349649G>A	ENST00000335585.5	-	6	737	c.714C>T	c.(712-714)ttC>ttT	p.F238F	PPP2R2C_ENST00000515571.1_Silent_p.F221F|PPP2R2C_ENST00000507294.1_Silent_p.F231F|PPP2R2C_ENST00000382599.4_Silent_p.F238F|PPP2R2C_ENST00000506140.1_Silent_p.F231F	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	238					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.F238F(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGCTGTAGACGAAGAGGTTGC	0.612000													27	48					0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572526	127572526	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:127572526C>T	ENST00000373580.3	+	8	1794	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	OLFML2A_ENST00000288815.5_Silent_p.V384V	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	598	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AAGGCCAGGTCGCCTACGCTT	0.637000													54	56					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17085024	17085024	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:17085024G>A	ENST00000455405.2	-	0	164																											GCGCAGCTTGGAACGACGCTG	0.602000													30	191					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234366	45234366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:45234366G>A	ENST00000066544.3	-	7	848	c.755C>T	c.(754-756)tCc>tTc	p.S252F	CDC27_ENST00000446365.2_Missense_Mutation_p.S191F|CDC27_ENST00000531206.1_Missense_Mutation_p.S252F|CDC27_ENST00000527547.1_Missense_Mutation_p.S252F	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	252					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGATAATATGGAAGTTCCTGT	0.383000													8	82					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152771804	152771804	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:152771804C>T	ENST00000367255.5	-	27	3952	c.3351G>A	c.(3349-3351)agG>agA	p.R1117R	SYNE1_ENST00000367248.3_Silent_p.R1107R|SYNE1_ENST00000423061.1_Silent_p.R1124R|SYNE1_ENST00000367253.4_Silent_p.R1117R|SYNE1_ENST00000448038.1_Silent_p.R1124R|SYNE1_ENST00000413186.2_Silent_p.R1117R|SYNE1_ENST00000341594.5_Silent_p.R1183R|SYNE1_ENST00000265368.4_Silent_p.R1117R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1117					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)		CCATGAGCTTCCTGTAGGTGC	0.517000										HNSCC(10;0.0054)			122	173					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96134489	96134489	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:96134489G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GTGACATCCTGAAGTATGATC	0.428000			T	TRA@	T-ALL								114	82					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049337	175049337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:175049337G>A	ENST00000239462.4	+	4	936	c.823G>A	c.(823-825)Gag>Aag	p.E275K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	275	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAAGAACACGGAGGATTCTCT	0.612000													39	136					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70307183	70307183	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:70307183T>G	ENST00000517649.1	-	5	877	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.Q196P|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.Q196P	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	196					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGAAAAACACTGTACCGTGTC	0.418000													21	57					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567862	223567862	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:223567862C>G	ENST00000366875.3	+	1	1148	c.1045C>G	c.(1045-1047)Caa>Gaa	p.Q349E		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	349										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GTGGAAGGAGCAACCAGAGGA	0.697000													3	21					0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46629531	46629531	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:46629531G>C	ENST00000303383.3	-	10	1663	c.1397C>G	c.(1396-1398)aCg>aGg	p.T466R		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	466										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GACTCCGGTCGTCTCACACTG	0.463000													4	83					0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155555	155555	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:155555C>T	ENST00000510175.1	+	0	990							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ATAAGAGAATCCATACTGGAG	0.373000													17	20					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42557083	42557083	+	Silent	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:42557083A>G	ENST00000318522.5	+	23	2944	c.2682A>G	c.(2680-2682)caA>caG	p.Q894Q	EML4_ENST00000401738.3_Silent_p.Q905Q|EML4_ENST00000453191.2_Silent_p.Q158Q|EML4_ENST00000402711.2_Silent_p.Q836Q	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	894					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTGTCATCCAATCTAATACTC	0.468000			T	ALK	NSCLC								57	63					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127765843	127765843	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:127765843A>G	ENST00000336505.5	-	10	926	c.868T>C	c.(868-870)Ttc>Ctc	p.F290L	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.F313L	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	290					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AGTTCACTGAACTTAACCTGC	0.383000													43	38					0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60312778	60312778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:60312778G>A	ENST00000371208.3	+	10	1107	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.E242K	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	284	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	p.E284K(1)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GCAGCTAATCGAATTCCAGCA	0.348000													26	31					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93955113	93955113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:93955113C>A	ENST00000369303.4	-	16	2969	c.2785G>T	c.(2785-2787)Gga>Tga	p.G929*		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	929	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGCCATTCTCCAACTGAACAA	0.378000													35	46					2.19962e-31	2.24699e-31	1	1	0
NME8	51314	broad.mit.edu	37	7	37889885	37889885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:37889885G>A	ENST00000199447.4	+	3	389	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	NME8_ENST00000440017.1_Missense_Mutation_p.R6Q|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	6	Thioredoxin.				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGCAAAAAACGAGAAGTCCAG	0.338000													131	82					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11778030	11778030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:11778030G>A	ENST00000356957.3	-	12	2413	c.2306C>T	c.(2305-2307)cCc>cTc	p.P769L	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.P742L			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	769	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTGTTGCAGGGAAAAAACAA	0.408000													6	33					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049857	69049857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:69049857G>A	ENST00000295381.3	+	10	2002	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E	ARHGAP25_ENST00000409220.1_Missense_Mutation_p.G522E|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.G529E|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.G489E|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.G222E|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.G521E	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	528					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GACTCCAAGGGAGATACTCTT	0.532000													83	88					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107636	6107636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:6107636C>T	ENST00000409021.3	-	3	637	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R63Q|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R63Q|JAKMIP1_ENST00000457227.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	63	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R63Q(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGTGTGCCGTCGCTGCTCCTG	0.672000													39	38					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187663	57187663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:57187663G>A	ENST00000331162.4	-	5	1729	c.1459C>T	c.(1459-1461)Cat>Tat	p.H487Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAATTCTCTTA	0.398000													18	64					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155578089	155578089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:155578089G>A	ENST00000461783.3	+	29	6213	c.4940G>A	c.(4939-4941)gGa>gAa	p.G1647E	TIAM2_ENST00000456144.1_Missense_Mutation_p.G1676E|TIAM2_ENST00000456877.2_Missense_Mutation_p.G959E|TIAM2_ENST00000360366.4_Missense_Mutation_p.G1671E|TIAM2_ENST00000367174.2_Missense_Mutation_p.G1023E|TIAM2_ENST00000529824.2_Missense_Mutation_p.G1676E|TIAM2_ENST00000275246.7_Missense_Mutation_p.G572E|TIAM2_ENST00000528391.2_Missense_Mutation_p.G991E|TIAM2_ENST00000318981.5_Missense_Mutation_p.G1647E			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1647					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGGACAGAGGAACTTTGCTC	0.532000													18	29					0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6449868	6449868	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:6449868C>T	ENST00000297056.6	-	14	1882	c.1713G>A	c.(1711-1713)ccG>ccA	p.P571P	DAGLB_ENST00000436575.1_Silent_p.P530P|DAGLB_ENST00000428902.2_3'UTR|DAGLB_ENST00000425398.2_Silent_p.P442P	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	571					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AGCTGTAGGCCGGGGACCAGC	0.647000													16	21					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9009404	9009404	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:9009404G>A	ENST00000377443.2	+	2	166	c.162G>A	c.(160-162)agG>agA	p.R54R	CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Silent_p.R54R|CA6_ENST00000319474.2_Silent_p.R54R	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	54					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTACAGAGGACGAAGGTGC	0.582000													18	34					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998033	27998033	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:27998033G>A	ENST00000441525.1	-	1	1533	c.1419C>T	c.(1417-1419)atC>atT	p.I473I		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	473										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCATGAACTGGATGATCTGGG	0.502000													15	1					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43532712	43532712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:43532712C>T	ENST00000395891.1	+	19	3975	c.3370C>T	c.(3370-3372)Cgc>Tgc	p.R1124C	HECW1_ENST00000453890.1_Missense_Mutation_p.R1090C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1124					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R1103C(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCATTTCTTCGCCAGCCAAA	0.458000													20	63					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14023144	14023144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:14023144C>T	ENST00000318003.7	+	3	446	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P69S	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	69					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGTCCCTTGCCGATGGAGGC	0.607000													7	16					0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114476807	114476807	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:114476807C>T	ENST00000394779.3	-	13	2268	c.2024G>A	c.(2023-2025)gGg>gAg	p.G675E	C9orf84_ENST00000374287.3_Missense_Mutation_p.G714E|C9orf84_ENST00000318737.4_Missense_Mutation_p.G714E|C9orf84_ENST00000394777.4_Missense_Mutation_p.G640E	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	714										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGCTTTTTCCCCCTAATAAA	0.368000													24	39					0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10187786	10187786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:10187786C>T	ENST00000535335.1	+	3	487	c.271C>T	c.(271-273)Cct>Tct	p.P91S	KLF11_ENST00000540845.1_Missense_Mutation_p.P91S|KLF11_ENST00000305883.1_Missense_Mutation_p.P108S	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	108					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTGCATAACTCCTCCTCAGAG	0.413000													34	43					0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233637	63233637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:63233637C>T	ENST00000540857.1	-	5	794	c.662G>A	c.(661-663)gGg>gAg	p.G221E	HRASLS5_ENST00000301790.4_Missense_Mutation_p.G231E|HRASLS5_ENST00000539221.1_Missense_Mutation_p.G231E	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	231										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTCACAGTTCCCTTCAATCAG	0.512000													132	70					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149759245	149759245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:149759245G>A	ENST00000451292.1	+	17	2917	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K	TCOF1_ENST00000439160.2_Missense_Mutation_p.E937K|TCOF1_ENST00000323668.7_Missense_Mutation_p.E860K|TCOF1_ENST00000445265.2_Missense_Mutation_p.E860K|TCOF1_ENST00000377797.3_Missense_Mutation_p.E937K|TCOF1_ENST00000513346.1_Missense_Mutation_p.E937K|TCOF1_ENST00000394269.3_Missense_Mutation_p.E937K|TCOF1_ENST00000504761.2_Missense_Mutation_p.E937K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	937					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCAGCAGCGAGGAATCAGA	0.632000													25	30					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15694243	15694243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:15694243G>A	ENST00000281513.5	-	4	254	c.229C>T	c.(229-231)Cct>Tct	p.P77S	NBAS_ENST00000441750.1_Missense_Mutation_p.P77S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	77										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGTCCATCAGGGAGCAAAAAA	0.368000													14	16					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915335	39915335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:39915335G>A	ENST00000425673.1	+	17	3800	c.3475G>A	c.(3475-3477)Gat>Aat	p.D1159N	PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D1129N|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D1188N			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1188	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAGCCTTACAGATACACAGGT	0.567000													97	241					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283043	5283043	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:5283043C>T	ENST00000546004.1	-	3	1044	c.798G>A	c.(796-798)cgG>cgA	p.R266R	PROKR2_ENST00000217270.3_Silent_p.R266R			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	266						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGCAGCGCAGCCGCTTGCGAA	0.607000										HNSCC(71;0.22)			53	38					0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49371371	49371371	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:49371371C>T	ENST00000225298.7	+	12	1668	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	537					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GATACTTTGCCTTGGGGAATG	0.353000													32	6					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314617	176314617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:176314617G>A	ENST00000292432.5	-	11	1526	c.1435C>T	c.(1435-1437)Cac>Tac	p.H479Y		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	479	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCGCCGGTGGGCAGCCAGA	0.657000													61	54					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25365254	25365254	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:25365254A>T	ENST00000330560.3	+	15	3549	c.3072A>T	c.(3070-3072)taA>taT	p.*1024Y	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Nonstop_Mutation_p.*1009Y	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	0					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAAAGCAGTAATTGACATTTC	0.433000													27	62					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751467	140751467	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140751467G>A	ENST00000576222.1	+	1	1637	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_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)			GGGAGCTGTCGTCCTACGTGT	0.657000													73	89					0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65035159	65035159	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:65035159A>C	ENST00000298705.1	+	7	623	c.527A>C	c.(526-528)tAt>tCt	p.Y176S	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	CN050_HUMAN	protein phosphatase 1, regulatory subunit 36	176																	CCCAAAAGCTATATGGTGTAA	0.313000													13	47					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140450052	140450052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:140450052G>A	ENST00000277540.2	-	9	1155	c.998C>T	c.(997-999)tCg>tTg	p.S333L	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		ATACACCAGCGAGTCGGGCAA	0.597000													47	55					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566851	4566851	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:4566851G>C	ENST00000360213.1	+	1	431	c.431G>C	c.(430-432)gGt>gCt	p.G144A		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGGTGGGTCGTTTGGGG	0.522000													76	78					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21250658	21250658	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:21250658G>A	ENST00000417816.2	-	4	653	c.300C>T	c.(298-300)atC>atT	p.I100I	NEBL_ENST00000377159.4_Silent_p.I66I	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	763					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCGTGACGATGCTGAAGC	0.458000													55	82					0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130197476	130197476	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:130197476C>T	ENST00000342483.5	+	3	619	c.213C>T	c.(211-213)tcC>tcT	p.S71S	ZNF79_ENST00000543471.1_Silent_p.S47S	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CAGGAAAGTCCAGGAGCCTTG	0.473000													23	38					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891044	44891044	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:44891044G>A	ENST00000330997.4	-	4	1427	c.1363C>T	c.(1363-1365)Cca>Tca	p.P455S	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.P455S|ZNF285_ENST00000591679.1_Missense_Mutation_p.P462S	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CATTTGTATGGTTTCTCCCCT	0.443000													78	45					0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703837	187703837	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:187703837G>A	ENST00000295131.2	-	4	382	c.343C>T	c.(343-345)Cga>Tga	p.R115*		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	115					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)			GTTTGAACTCGATGTATCCCC	0.393000													50	76					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50217213	50217213	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:50217213G>A	ENST00000216267.8	-	1	1239	c.753C>T	c.(751-753)atC>atT	p.I251I	BRD1_ENST00000457780.2_Silent_p.I251I|BRD1_ENST00000404760.1_Silent_p.I251I|BRD1_ENST00000404034.1_Silent_p.I251I	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	251					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGCCCTCGGGGATGTAGGGCA	0.642000													32	21					0	0	1	0	0
GDE1	51573	broad.mit.edu	37	16	19522235	19522235	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:19522235G>A	ENST00000353258.3	-	3	649	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	157	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GCTTCCCTTAGGGTAGGGATC	0.383000													55	88					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22780122	22780122	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:22780122C>T	ENST00000600260.1	+	0	200					NR_033899.1																						CCCTGGTGTTCCTACAGGAGT	0.468000													74	39					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19984422	19984422	+	Silent	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:19984422A>G	ENST00000379687.3	-	2	420	c.387T>C	c.(385-387)tcT>tcC	p.S129S	CXorf23_ENST00000356980.3_Silent_p.S129S|CXorf23_ENST00000379682.4_Silent_p.S129S	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	129						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTGGGGATAAGAATTCCTTT	0.468000													83	7					0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96073567	96073567	+	Silent	SNP	T	T	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:96073567T>G	ENST00000395813.1	+	11	900	c.714T>G	c.(712-714)gcT>gcG	p.A238A	CAST_ENST00000510756.1_Silent_p.A216A|CAST_ENST00000395812.2_Silent_p.A197A|CAST_ENST00000511049.1_Silent_p.A141A|CAST_ENST00000341926.3_Silent_p.A155A|CAST_ENST00000508830.1_Silent_p.A238A|CAST_ENST00000509903.1_Silent_p.A133A|CAST_ENST00000504465.1_Silent_p.A83A|CAST_ENST00000511782.1_Silent_p.A141A|CAST_ENST00000508608.1_Silent_p.A201A|CAST_ENST00000359176.4_Silent_p.A219A|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000309190.5_Silent_p.A133A|CAST_ENST00000338252.3_Silent_p.A155A|CAST_ENST00000325674.7_Silent_p.A216A			P20810	ICAL_HUMAN	calpastatin	155							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GCATGGATGCTGCTTTGGATG	0.328000													39	141					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720352	140720352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140720352C>T	ENST00000394576.2	+	1	1814	c.1814C>T	c.(1813-1815)tCt>tTt	p.S605F	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGGCTGTCTTACCACCTG	0.697000													96	116					0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:23235899C>T	ENST00000285848.5	+	1	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_ENST00000604262.1_5'UTR	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000													136	87					0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39517561	39517561	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:39517561G>A	ENST00000292853.4	-	5	776	c.657C>T	c.(655-657)ttC>ttT	p.F219F	FBXO27_ENST00000600828.1_Silent_p.F218F|FBXO27_ENST00000509137.2_Silent_p.F219F	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	219	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCACAGCAGAGAATTTATCTA	0.557000													118	286					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373410	5373410	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5373410G>A	ENST00000380219.1	+	1	673	c.673G>A	c.(673-675)Ggc>Agc	p.G225S	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	225					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)		GACTGTCATGGGCATTGGTTC	0.428000													88	75					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215547	140215547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140215547G>A	ENST00000525929.1	+	1	1579	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E527K|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAGCTGGAGCT	0.682000													139	191					0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152212270	152212270	+	Splice_Site	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:152212270G>A	ENST00000455694.2	+	5	654	c.651_splice	c.e5-1	p.G218_splice	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Splice_Site_p.G75_splice	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	218	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TCTTCCTTAGGGTGATTCTGG	0.438000													17	24					0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25187900	25187900	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:25187900C>T	ENST00000360031.2	+	3	422	c.240C>T	c.(238-240)gcC>gcT	p.A80A	ENTPD6_ENST00000433259.2_Silent_p.A81A|ENTPD6_ENST00000354989.5_Silent_p.A64A|ENTPD6_ENST00000376652.4_Silent_p.A81A	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	81						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCCGGGGGCCCGGTGGGGTC	0.652000													69	54					0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058535	5058535	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:5058535C>T	ENST00000251170.7	+	14	1866	c.1686C>T	c.(1684-1686)gcC>gcT	p.A562A		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	562	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCTGGGCGCCCGGGAACCGG	0.662000													32	25					0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254981	30254981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:30254981G>A	ENST00000361644.2	+	5	1677	c.940G>A	c.(940-942)Gag>Aag	p.E314K	MAGEB3_ENST00000378986.1_Missense_Mutation_p.E314K	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	314										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TTTGAGAGATGAGGAAGAAAG	0.507000													28	1					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692112	20692112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:20692112G>A	ENST00000315519.2	+	1	322	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CATCCTTCTGGGAAACTTTGC	0.468000													20	37					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482006	37482006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:37482006G>A	ENST00000374660.1	+	32	2815	c.2716G>A	c.(2716-2718)Gat>Aat	p.D906N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D787N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D787N|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	962						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCCTGATAATGATGGTTTTCT	0.289000													34	52					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915624	72915624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:72915624C>T	ENST00000319642.1	-	2	1489	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	436	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GATCTTCTTTCGGGGCCCCAG	0.682000													79	8					0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25278737	25278737	+	Silent	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:25278737T>C	ENST00000264864.6	+	10	1563	c.1374T>C	c.(1372-1374)ggT>ggC	p.G458G	PI4K2B_ENST00000512921.1_Silent_p.G362G	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	458						cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GAAGTCAGGGTCGGATTGTCC	0.453000													47	49					0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657369	40657369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:40657369G>A	ENST00000406785.1	-	2	241	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	SLC8A1_ENST00000332839.4_Missense_Mutation_p.H18Y|SLC8A1_ENST00000403092.1_Missense_Mutation_p.H18Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.H18Y|SLC8A1_ENST00000542756.1_Missense_Mutation_p.H18Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.H18Y|SLC8A1_ENST00000408028.2_Missense_Mutation_p.H18Y|SLC8A1_ENST00000406391.2_Missense_Mutation_p.H18Y|SLC8A1_ENST00000542024.1_Missense_Mutation_p.H18Y|SLC8A1_ENST00000402441.1_Missense_Mutation_p.H18Y			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	18					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACTAACAGATGAAATCCCATT	0.418000													19	40					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38763757	38763757	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38763757C>T	ENST00000449082.2	-	19	3498	c.3499G>A	c.(3499-3501)Gga>Aga	p.G1167R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1167					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCAGAGATCCACTGCTGAGC	0.547000													39	102					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51769063	51769063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:51769063C>T	ENST00000374056.4	+	7	1507	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L	AGAP6_ENST00000412531.3_Missense_Mutation_p.P393L			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	393					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AACCCGCCCCCCTCTCCTCAT	0.522000													48	85					0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715369	165715369	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:165715369G>A	ENST00000543069.1	-	2	711	c.130C>T	c.(130-132)Cca>Tca	p.P44S	C6orf118_ENST00000230301.8_Missense_Mutation_p.P148S			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	148										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCCTCCACTGGAAGGAAATCC	0.632000													70	64					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716833	142716833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:142716833G>A	ENST00000381779.4	-	2	2317	c.2092C>T	c.(2092-2094)Cac>Tac	p.H698Y	SLITRK4_ENST00000356928.1_Missense_Mutation_p.H698Y|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H698Y	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	698						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAAGTGTGGCTCTTGCTC	0.428000													53	4					0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72690730	72690730	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:72690730G>A	ENST00000341689.3	+	1	117	c.63G>A	c.(61-63)ggG>ggA	p.G21G	TMEM202_ENST00000567679.1_Silent_p.G21G	NM_001080462.1	NP_001073931.1	A6NGA9	TM202_HUMAN	transmembrane protein 202	21						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAATAAAGGGGAACCGGAAAT	0.443000													9	27					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113210126	113210126	+	Silent	SNP	T	T	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:113210126T>A	ENST00000393020.1	+	10	1161	c.756T>A	c.(754-756)ctT>ctA	p.L252L	TTC12_ENST00000529221.1_Silent_p.L252L|TTC12_ENST00000483239.2_Silent_p.L258L|TTC12_ENST00000314756.3_Silent_p.L252L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	252							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGGAGACCCTTTCCAAGCCTG	0.483000													164	17					0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59348978	59348978	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:59348978C>T	ENST00000263847.1	-	10	2207	c.1728G>A	c.(1726-1728)aaG>aaA	p.K576K		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	576					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGTAACTTTCTTCCAAGTGT	0.393000													49	121					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88085182	88085182	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:88085182G>A	ENST00000273963.5	-	9	1928	c.1587C>T	c.(1585-1587)ccC>ccT	p.P529P	KLHL8_ENST00000545252.1_Silent_p.P178P|KLHL8_ENST00000425278.2_Silent_p.P346P|KLHL8_ENST00000498875.2_Silent_p.P453P|KLHL8_ENST00000512111.1_Silent_p.P529P	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	529										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGTTGCTTCGGGGGTCATACC	0.413000													29	60					0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960900	33960900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:33960900C>T	ENST00000361328.3	+	8	3109	c.2956C>T	c.(2956-2958)Ccg>Tcg	p.P986S		NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	986					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGAGAGAAGCCGTATAAGTG	0.473000													30	46					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44130794	44130794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:44130794C>T	ENST00000395673.3	+	3	742	c.686C>T	c.(685-687)cCc>cTc	p.P229L	EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000533608.1_Missense_Mutation_p.P196L|EXT2_ENST00000358681.4_Missense_Mutation_p.P196L|EXT2_ENST00000343631.3_Missense_Mutation_p.P196L	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	196					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCTGGAGGTCCCCCAGATTAT	0.433000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				92	108					0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72541018	72541018	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:72541018G>A	ENST00000330793.1	-	2	490	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	44	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.R44C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TTCTCATAGCGACACTGCACA	0.532000													104	5					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395638	76395638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr13:76395638C>T	ENST00000357063.3	+	15	3949	c.2689C>T	c.(2689-2691)Ccc>Tcc	p.P897S	LMO7_ENST00000341547.4_Missense_Mutation_p.P563S|LMO7_ENST00000526202.1_Missense_Mutation_p.P462S|LMO7_ENST00000321797.8_Missense_Mutation_p.P612S|LMO7_ENST00000465261.2_Missense_Mutation_p.P612S|LMO7_ENST00000377534.3_Missense_Mutation_p.P897S			Q8WWI1	LMO7_HUMAN	LIM domain 7	897						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTTCTCTCCCCAGAAGTTA	0.488000													200	4					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021667	16021667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:16021667C>T	ENST00000350896.3	-	5	921	c.724G>A	c.(724-726)Gga>Aga	p.G242R	MSR1_ENST00000262101.5_Missense_Mutation_p.G242R|MSR1_ENST00000445506.2_Missense_Mutation_p.G260R|MSR1_ENST00000355282.2_Missense_Mutation_p.G242R|MSR1_ENST00000381998.4_Missense_Mutation_p.G242R|MSR1_ENST00000536385.1_Missense_Mutation_p.G16R	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	242					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCACTTCTCCTTTTATTTCC	0.333000													20	40					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525609	150525609	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:150525609A>C	ENST00000271643.4	+	5	550	c.314A>C	c.(313-315)cAg>cCg	p.Q105P	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.Q105P|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.Q105P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.Q105P	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	105					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCAGACCCCAGACTTCTCCA	0.667000													128	61					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40818272	40818272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:40818272C>T	ENST00000295974.8	-	18	2743	c.2114G>A	c.(2113-2115)cGa>cAa	p.R705Q	APBB2_ENST00000513140.1_Missense_Mutation_p.R683Q|APBB2_ENST00000543538.1_Missense_Mutation_p.R157Q|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000508593.1_Missense_Mutation_p.R706Q|APBB2_ENST00000506352.1_Missense_Mutation_p.R684Q|APBB2_ENST00000502841.1_Missense_Mutation_p.R157Q|APBB2_ENST00000504305.1_Missense_Mutation_p.R157Q	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	705	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTTCTGATATCGTAACTGAAA	0.383000													35	55					0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360962	107360962	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:107360962G>A	ENST00000374779.2	-	1	826	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ACCACAGTCAGACGAGCTGAG	0.423000													58	62					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881659	26881659	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:26881659G>A	ENST00000231021.4	-	12	2128	c.1956C>T	c.(1954-1956)gtC>gtT	p.V652V		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	652					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						TGTTGTCCCGGACATCGTCTT	0.413000													64	53					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885815	45885815	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:45885815C>T	ENST00000418234.2	-	12	2496	c.2418G>A	c.(2416-2418)caG>caA	p.Q806Q	PPP1R13L_ENST00000360957.5_Silent_p.Q806Q	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	806	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGTAGCCCTCCTGGCCGTGCA	0.697000													74	183					0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29125756	29125756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:29125756G>A	ENST00000261590.8	+	15	2616	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	803					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTCTCAGGAAGAAACTGAATC	0.378000													29	85					0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860134	96860134	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:96860134G>A	ENST00000375360.3	+	7	1464	c.1124G>A	c.(1123-1125)aGg>aAg	p.R375K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R427K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	375							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTTTGGAAAAGGCGGAATGTT	0.512000													48	61					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106322074	106322074	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:106322074C>T	ENST00000390559.2	-	0	249																											ACCACGTGTTCGTCTGTGCCC	0.627000													86	187					0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66322680	66322680	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:66322680G>A	ENST00000513398.1	+	0	733				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						ACTGCGAAAGGTAGAGGCCCC	0.617000													45	30					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791975	209791975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:209791975C>T	ENST00000391911.1	-	18	3120	c.2731G>A	c.(2731-2733)Gag>Aag	p.E911K	LAMB3_ENST00000367030.3_Missense_Mutation_p.E911K|LAMB3_ENST00000356082.4_Missense_Mutation_p.E911K	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	911	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCGCTGACCTCCTGGATAGTG	0.582000													28	131					0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122444	153122444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:153122444G>A	ENST00000368748.4	-	2	181	c.143C>T	c.(142-144)cCt>cTt	p.P48L		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	48					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATGGTGGAGGTGGGCAATG	0.572000													154	79					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83994304	83994304	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:83994304G>A	ENST00000343939.2	+	5	967	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	OSGIN1_ENST00000565123.1_Missense_Mutation_p.R112Q|OSGIN1_ENST00000393306.1_Missense_Mutation_p.R112Q|OSGIN1_ENST00000361711.3_Missense_Mutation_p.R112Q			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	195					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TGGAAGCACCGGAAGGAGCAC	0.657000													30	54					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729750	88729750	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:88729750C>T	ENST00000340700.5	-	2	634	c.183G>A	c.(181-183)ggG>ggA	p.G61G	KCNK10_ENST00000319231.5_Silent_p.G66G|KCNK10_ENST00000312350.5_Silent_p.G66G	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	61					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTGCAAGCCCCCTTGGGAGG	0.612000													86	189					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8947376	8947376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:8947376C>T	ENST00000326053.5	-	5	944	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	C11orf16_ENST00000525780.1_Missense_Mutation_p.G280S	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	280										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CAGAGGCAGCCCTGGCACAGT	0.602000													151	149					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136444	40136444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:40136444C>T	ENST00000278198.2	-	2	3362	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	LRRC4C_ENST00000528697.1_Missense_Mutation_p.D467N|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D467N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D467N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	467					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGTGCCTCATCCTGAGACGGT	0.512000													59	67					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137257515	137257515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:137257515G>A	ENST00000453654.1	-	18	1470	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	DGKI_ENST00000288490.5_Missense_Mutation_p.P611S|DGKI_ENST00000424189.2_Missense_Mutation_p.P611S|DGKI_ENST00000446122.1_Missense_Mutation_p.P611S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	611					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCCTACCTGGGTATATTTAAA	0.363000													59	43					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553002	6553002	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:6553002C>T	ENST00000263125.5	-	3	372	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.S91S	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	91	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TCTCAGCCAGCGAGTAGAGCT	0.468000													56	101					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79429998	79429998	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:79429998C>T	ENST00000264895.6	+	63	10058	c.9618C>T	c.(9616-9618)ttC>ttT	p.F3206F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3201					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCCTCATTTCCCCAGATACG	0.567000													10	21					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699610	17699610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:17699610C>T	ENST00000399080.2	-	1	96	c.73G>A	c.(73-75)Gac>Aac	p.D25N		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	25										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAATCCGGGTCCTCAGGAGGC	0.602000													57	93					0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172930373	172930373	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:172930373G>A	ENST00000315796.4	+	4	777	c.390G>A	c.(388-390)cgG>cgA	p.R130R	METAP1D_ENST00000488581.1_Intron	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	130					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TTGTTCATCGGGAAATCATCA	0.373000													37	69					0	0	1	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177149	70177149	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:70177149C>A	ENST00000377420.1	-	1	1666	c.835G>T	c.(835-837)Gcc>Tcc	p.A279S		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	279					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						GGTGCCCCGGCATAGACGGGG	0.682000													26	82					2.40579e-17	2.43791e-17	1	1	0
USP6NL	9712	broad.mit.edu	37	10	11504532	11504532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:11504532G>A	ENST00000379237.1	-	15	2789	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	USP6NL_ENST00000277575.5_Missense_Mutation_p.P816S	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	799						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TATCCAGATGGACTGGCATCT	0.537000													60	86					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230857	147230857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:147230857C>T	ENST00000271348.2	-	2	651	c.490G>A	c.(490-492)Gag>Aag	p.E164K	GJA5_ENST00000369237.1_Missense_Mutation_p.E164K	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	164					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.E164Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AAGCCCACCTCCATGGTGGTG	0.577000													163	101					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47930265	47930265	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:47930265G>A	ENST00000289672.2	-	16	2600	c.2550C>T	c.(2548-2550)tcC>tcT	p.S850S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	850	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGCCTCAAAGGAAACAGTGG	0.582000													24	79					0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155125	100155125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:100155125G>A	ENST00000263174.4	+	7	1684	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N	PALMD_ENST00000605497.1_Missense_Mutation_p.D437N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	437					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GACAGGATATGATGGGATCAT	0.473000													25	30					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396750	139396750	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:139396750G>A	ENST00000277541.6	-	28	5433	c.5358C>T	c.(5356-5358)ccC>ccT	p.P1786P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1786					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCGCCGAGGGGCTCCCGCC	0.697000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			11	21					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89922068	89922068	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:89922068A>G	ENST00000378247.3	+	6	995	c.952A>G	c.(952-954)Atc>Gtc	p.I318V	SPIRE2_ENST00000393062.2_Missense_Mutation_p.I318V	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	318					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCTGGACTTTATCCGCTCACG	0.677000													33	42					0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159344183	159344183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:159344183G>A	ENST00000306675.3	+	1	394	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	91					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	GGCCATGGCCGACCTGCTGTT	0.607000													93	129					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64769497	64769497	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:64769497C>T	ENST00000536360.1	-	2	817	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	2					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CACAAAATTTCCATAATTTAG	0.358000													56	28					0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41267290	41267290	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:41267290A>G	ENST00000349496.5	+	6	1154	c.874A>G	c.(874-876)Aaa>Gaa	p.K292E	CTNNB1_ENST00000453024.1_Missense_Mutation_p.K285E|CTNNB1_ENST00000396185.3_Missense_Mutation_p.K292E|CTNNB1_ENST00000396183.3_Missense_Mutation_p.K292E|CTNNB1_ENST00000405570.1_Missense_Mutation_p.K292E	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	292					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AACAAATGTTAAATTCTTGGC	0.388000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				20	39					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457557	110457557	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:110457557G>A	ENST00000378402.5	+	38	5563	c.5459G>A	c.(5458-5460)gGc>gAc	p.G1820D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1820	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAAGTAAAGGCTTGGCTCTG	0.483000										HNSCC(38;0.096)			78	6					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198717	55198717	+	Silent	SNP	T	T	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:55198717T>G	ENST00000340465.2	+	3	377	c.291T>G	c.(289-291)ctT>ctG	p.L97L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	97						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAAACTGCTTGGAAAAAAAT	0.299000													47	56					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33255107	33255107	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:33255107A>G	ENST00000314144.5	-	14	1668	c.1553T>C	c.(1552-1554)gTt>gCt	p.V518A	CCT6B_ENST00000421975.3_Missense_Mutation_p.V481A|CCT6B_ENST00000436961.3_Missense_Mutation_p.V473A	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	518					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AATTTCATCAACCAGGAGAAT	0.388000													108	12					0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305120	27305120	+	Silent	SNP	G	G	C	rs150542277	byFrequency	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:27305120G>C	ENST00000380320.4	+	4	1180	c.681G>C	c.(679-681)gcG>gcC	p.A227A		NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	227					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCTGACGCGGCTGCCCGCC	0.682000													20	37					0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344834	56344834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:56344834G>A	ENST00000526812.2	-	1	429	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCTACATAGCGATCCAATGCC	0.453000													50	125					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37678613	37678613	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:37678613G>A	ENST00000248901.6	+	1	190	c.3G>A	c.(1-3)atG>atA	p.M1I	CYTH4_ENST00000405206.3_Start_Codon_SNP_p.M1I|CYTH4_ENST00000402997.1_Start_Codon_SNP_p.M1I|CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	1					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCGTCGGAATGGACctgtgcc	0.612000													15	27					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183887840	183887840	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:183887840C>T	ENST00000313143.3	+	14	1793	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.A498A	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	515					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCAGTGGCGCCTCTGACCAGG	0.657000													64	150					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63672440	63672440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:63672440C>T	ENST00000402010.2	+	16	2438	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	MARK2_ENST00000513765.2_Missense_Mutation_p.P587L|MARK2_ENST00000315032.8_Missense_Mutation_p.P620L|MARK2_ENST00000361128.5_Missense_Mutation_p.P566L|MARK2_ENST00000509502.2_Missense_Mutation_p.P586L|MARK2_ENST00000377810.3_Missense_Mutation_p.P532L|MARK2_ENST00000377809.4_Missense_Mutation_p.P620L|MARK2_ENST00000425897.2_Missense_Mutation_p.P540L|MARK2_ENST00000502399.3_Missense_Mutation_p.P619L|MARK2_ENST00000508192.1_Missense_Mutation_p.P565L|MARK2_ENST00000413835.2_Missense_Mutation_p.P566L|MARK2_ENST00000350490.7_Missense_Mutation_p.P565L|MARK2_ENST00000408948.3_Missense_Mutation_p.P532L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	620					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAGCCTCTCCCTCTGGCCAC	0.637000													99	201					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79430112	79430112	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:79430112C>T	ENST00000264895.6	+	63	10172	c.9732C>T	c.(9730-9732)ccC>ccT	p.P3244P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3239					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCGGTCTCCCTTTGAAACCA	0.582000													37	48					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75070851	75070851	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:75070851G>T	ENST00000257665.5	-	2	649	c.650C>A	c.(649-651)tCc>tAc	p.S217Y	POM121C_ENST00000453279.2_5'UTR			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	217	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCCCGGACAGGAATACTGGGT	0.522000													36	12					1.58521e-26	1.61499e-26	1	1	0
WDR31	114987	broad.mit.edu	37	9	116083797	116083797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:116083797G>A	ENST00000374193.4	-	8	878	c.632C>T	c.(631-633)aCc>aTc	p.T211I	WDR31_ENST00000374195.3_Missense_Mutation_p.T86I|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Missense_Mutation_p.T210I	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	211										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CCACCTGAGGGTTTTATCTTC	0.478000													19	33					0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622297	64622297	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:64622297G>A	ENST00000320631.3	-	5	1367	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	EHD1_ENST00000359393.2_Silent_p.F371F|EHD1_ENST00000488711.1_5'UTR	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	371					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TCAGCGCCTGGAACTTGCTGA	0.637000													411	239					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273385	162273385	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:162273385G>A	ENST00000389554.3	+	1	781	c.464G>A	c.(463-465)gGa>gAa	p.G155E		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	155						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ATCACCAACGGAGCCTACAAC	0.677000													81	82					0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113603	59113603	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:59113603C>T	ENST00000395153.3	+	4	2298	c.2151C>T	c.(2149-2151)ttC>ttT	p.F717F	DACT1_ENST00000335867.4_Silent_p.F754F|DACT1_ENST00000541264.2_Silent_p.F473F|DACT1_ENST00000395151.3_Silent_p.F473F|DACT1_ENST00000556859.1_Silent_p.F473F	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	754					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCAACTGCTTCGGGGACAGCG	0.597000													111	259					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223537	35223537	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:35223537C>T	ENST00000338513.1	+	2	779	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	202					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGCTCAACCTCGTGGAGCTCA	0.547000													47	65					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52567257	52567257	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:52567257C>T	ENST00000356297.4	-	2	328	c.228G>A	c.(226-228)ttG>ttA	p.L76L	PXDNL_ENST00000543296.1_Silent_p.L76L	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	76					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACAGTGTGTTCAAATTCTTGA	0.368000													26	1					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646628	57646628	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:57646628C>T	ENST00000269834.1	-	5	1462	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCTCTCTTCCCAGTGTGAA	0.383000													112	99					0	0	1	0	0
TSR3	115939	broad.mit.edu	37	16	1400944	1400944	+	Silent	SNP	G	G	A	rs143210621		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:1400944G>A	ENST00000007390.2	-	3	496	c.390C>T	c.(388-390)gaC>gaT	p.D130D		NM_001001410.2	NP_001001410.1			TSR3, 20S rRNA accumulation, homolog (S. cerevisiae)																		ACGGTGTCTCGTCCAGCCTGG	0.632000													53	83					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122075522	122075522	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:122075522A>T	ENST00000265922.3	-	2	573	c.112T>A	c.(112-114)Ttt>Att	p.F38I	DBC1_ENST00000373964.2_Missense_Mutation_p.F38I	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		38					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGCCAATCAAATTCCTTGGAG	0.488000													67	79					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133225928	133225928	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:133225928G>A	ENST00000320574.5	-	31	4012	c.3969C>T	c.(3967-3969)gcC>gcT	p.A1323A	POLE_ENST00000535270.1_Silent_p.A1296A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1323					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|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	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGATGCTGCGGGCAGTTCTTC	0.652000								DNA polymerases (catalytic subunits)					37	67					0	0	1	0	0
TRIM6	117854	broad.mit.edu	37	11	5632103	5632103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5632103C>T	ENST00000380097.3	+	8	1324	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	TRIM6_ENST00000445329.1_Missense_Mutation_p.P158L|TRIM6-TRIM34_ENST00000354852.5_Intron|TRIM6_ENST00000507320.1_Missense_Mutation_p.P158L|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000506134.1_Missense_Mutation_p.P158L|TRIM6_ENST00000515022.1_Missense_Mutation_p.P158L|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_Missense_Mutation_p.P307L|TRIM6_ENST00000278302.5_Missense_Mutation_p.P333L|TRIM6_ENST00000481603.1_3'UTR	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			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)		GTATCTGGACCTTCCTGTCTG	0.483000													66	90					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187355	27187355	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:27187355A>G	ENST00000222728.3	-	1	38	c.14T>C	c.(13-15)tTt>tCt	p.F5S	HOXA-AS3_ENST00000518947.2_RNA|HOXA6_ENST00000521478.1_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	5						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GGGATTCACAAAATAGGAACT	0.527000											OREG0003757	type=REGULATORY REGION|Gene=HOXA6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	66					0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39413917	39413917	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:39413917C>T	ENST00000361441.3	+	3	601	c.321C>T	c.(319-321)ttC>ttT	p.F107F	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	107					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					TGGCCGAGTTCCTGGCCAGGC	0.577000													236	150					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27558560	27558560	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:27558560G>A	ENST00000359541.2	-	10	1910	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L	GTF3C2_ENST00000264720.3_Missense_Mutation_p.P494L|AC109828.1_ENST00000416453.2_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	494						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCAACCGGGGCAGGAGAGG	0.552000													3	4					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73219993	73219993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:73219993G>A	ENST00000541685.1	-	3	292	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	DPF3_ENST00000556509.1_Missense_Mutation_p.R94W|DPF3_ENST00000546183.1_Missense_Mutation_p.R104W	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	94					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCCAGCAGCCGCAGTTTTGGA	0.597000													3	44					0	0	1	0	0
MREG	55686	broad.mit.edu	37	2	216809589	216809589	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:216809589G>A	ENST00000263268.6	-	5	937	c.642C>T	c.(640-642)ccC>ccT	p.P214P		NM_018000.2	NP_060470.2	Q8N565	MREG_HUMAN	melanoregulin	214						apical plasma membrane		p.P214P(1)		large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		CTCTCCTTTAGGGACTTGGAA	0.488000													18	33					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110654046	110654046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:110654046C>T	ENST00000338081.3	-	1	328	c.157G>A	c.(157-159)Gag>Aag	p.E53K	DCX_ENST00000488120.1_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000371993.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	53					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCTGTTTCCTCACACATGCCC	0.423000													109	11					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330378	128330378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:128330378G>A	ENST00000368227.3	-	14	2596	c.2230C>T	c.(2230-2232)Ccc>Tcc	p.P744S	PTPRK_ENST00000368213.5_Missense_Mutation_p.P744S|PTPRK_ENST00000532331.1_Missense_Mutation_p.P744S|PTPRK_ENST00000368207.3_Missense_Mutation_p.P744S|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.P743S|PTPRK_ENST00000368210.3_Missense_Mutation_p.P744S|PTPRK_ENST00000368226.4_Missense_Mutation_p.P744S			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	743					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGCTTGGCGGGATCTGGGATC	0.363000													19	23					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109554018	109554018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:109554018C>T	ENST00000357672.3	-	4	941	c.566G>A	c.(565-567)gGa>gAa	p.G189E	WDR47_ENST00000361054.3_Missense_Mutation_p.G189E|WDR47_ENST00000369962.3_Missense_Mutation_p.G217E|WDR47_ENST00000369965.4_Missense_Mutation_p.G217E|WDR47_ENST00000400794.3_Missense_Mutation_p.G224E			O94967	WDR47_HUMAN	WD repeat domain 47	217										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AATTTCTTCTCCAGTTGCTTT	0.388000													87	126					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187195349	187195349	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:187195349A>T	ENST00000403665.2	+	5	757	c.405A>T	c.(403-405)gaA>gaT	p.E135D	F11_ENST00000264692.4_Intron|F11_ENST00000492972.2_Missense_Mutation_p.E135D	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	135	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GTGCTCAAGAATGCCAAGAAA	0.478000													64	72					0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96694102	96694102	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:96694102T>C	ENST00000261211.3	-	6	1183	c.580A>G	c.(580-582)Aaa>Gaa	p.K194E	CDK17_ENST00000543119.2_Missense_Mutation_p.K194E|CDK17_ENST00000542666.1_Missense_Mutation_p.K141E|CDK17_ENST00000553042.1_5'UTR	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	194	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TTTTCCAATTTGATGTAGGTT	0.294000													37	19					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116397781	116397781	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:116397781G>A	ENST00000397752.3	+	8	2255	c.2055G>A	c.(2053-2055)ggG>ggA	p.G685G	MET_ENST00000436117.2_Silent_p.G685G|MET_ENST00000318493.6_Silent_p.G685G	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	685	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAAACAGTGGGAATTCTAGAC	0.353000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				30	78					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190819	50190819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:50190819C>T	ENST00000335999.6	-	8	1025	c.824G>A	c.(823-825)gGt>gAt	p.G275D		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	271	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCTGCTAGGACCCCAGGGCCG	0.692000													6	6					0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242587	53242587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:53242587G>A	ENST00000304620.4	-	1	191	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	43	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCCCCAAAGGAATTAAGGCT	0.672000													28	25					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156948003	156948003	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:156948003G>A	ENST00000368194.3	-	6	1542	c.503C>T	c.(502-504)cCt>cTt	p.P168L	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.P168L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	168					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)					TACCTGCAGAGGTTTGGGTCC	0.547000													84	40					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55716775	55716775	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:55716775G>C	ENST00000376350.3	-	4	560	c.538C>G	c.(538-540)Ccc>Gcc	p.P180A	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	180	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AAACACCCGGGTTCAAGTCCA	0.547000													175	116					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228430910	228430910	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:228430910C>G	ENST00000570156.2	+	11	3306	c.3232C>G	c.(3232-3234)Cag>Gag	p.Q1078E	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q986E|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q986E	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1078	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCAAGGACCAGGTGGCACA	0.587000													108	12					0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799460	5799460	+	Silent	SNP	A	A	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5799460A>T	ENST00000317093.2	-	1	437	c.405T>A	c.(403-405)atT>atA	p.I135I	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAGGGTAGCAAATGGCTACAT	0.507000													79	81					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679989	3679989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:3679989C>T	ENST00000344754.4	-	7	1645	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.G549E	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	549	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AAGCAGGGCTCCATTCAGGTA	0.682000													10	17					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191841735	191841735	+	Silent	SNP	C	C	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:191841735C>A	ENST00000361099.3	-	22	2277	c.1890G>T	c.(1888-1890)gcG>gcT	p.A630A	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Silent_p.A630A|STAT1_ENST00000392323.2_Silent_p.A632A|STAT1_ENST00000409465.1_Silent_p.A630A	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	630	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.A630A(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AGGGTTCAACCGCATGGAAGT	0.408000													3	68					1	1	1	1	0
TEP1	7011	broad.mit.edu	37	14	20849134	20849134	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:20849134T>C	ENST00000262715.5	-	33	4758	c.4718A>G	c.(4717-4719)gAa>gGa	p.E1573G	TEP1_ENST00000556935.1_Missense_Mutation_p.E1465G|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1573					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGACCCAATTCCAAGTGTGC	0.532000													46	135					0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185175759	185175759	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:185175759C>T	ENST00000367500.4	+	13	2001	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	SWT1_ENST00000367501.3_Silent_p.I612I	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	612										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTCTTTAGATCCTGTACCTGA	0.294000													17	59					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182392041	182392041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:182392041C>T	ENST00000397033.2	+	22	2787	c.2357C>T	c.(2356-2358)tCa>tTa	p.S786L		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	786					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)	AACCCAACTTCATTTGTGTAT	0.294000													23	33					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68518115	68518115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:68518115G>A	ENST00000443940.2	-	2	100	c.14C>T	c.(13-15)cCt>cTt	p.P5L	MTL5_ENST00000544963.1_Missense_Mutation_p.P5L|MTL5_ENST00000255087.5_Missense_Mutation_p.P5L			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	5					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCCCGGCAGAGGGCCCTCCTC	0.731000													23	1					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44902725	44902725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:44902725C>T	ENST00000429094.2	-	20	2947	c.2443G>A	c.(2443-2445)Gaa>Aaa	p.E815K	NELL2_ENST00000452445.2_Missense_Mutation_p.E815K|NELL2_ENST00000333837.4_Missense_Mutation_p.E838K|NELL2_ENST00000395487.2_Missense_Mutation_p.E814K|NELL2_ENST00000551601.1_Missense_Mutation_p.E767K|NELL2_ENST00000549027.1_Missense_Mutation_p.E814K|NELL2_ENST00000437801.2_Missense_Mutation_p.E865K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	815					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTTCACAGTTCCTGAAGGCAC	0.333000													45	28					0	0	1	0	0
IGHV1-3	28473	broad.mit.edu	37	14	106471512	106471512	+	RNA	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:106471512C>T	ENST00000390595.2	-	0	126																											TTCTTCACCTCAGCCCCAGAC	0.582000													20	102					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9861155	9861155	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:9861155G>A	ENST00000256190.8	-	26	3482	c.3345C>T	c.(3343-3345)ttC>ttT	p.F1115F	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1115	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GATAGTCTCTGAAACAAGCTT	0.463000													129	150					0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	700084	700084	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:700084G>A	ENST00000549091.1	+	3	288	c.196G>A	c.(196-198)Ggg>Agg	p.G66R	WDR90_ENST00000293879.4_Missense_Mutation_p.G66R	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	66										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGTCTCTGGGGCTGACGGG	0.612000													234	314					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060671	16060671	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:16060671C>T	ENST00000322107.1	+	1	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GTCTTCACCCCCTTCCTTAGC	0.453000													53	193					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53605501	53605501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:53605501G>A	ENST00000425354.2	-	10	1811	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.P442S|RARG_ENST00000543726.1_Missense_Mutation_p.P420S|RARG_ENST00000338561.5_Missense_Mutation_p.P431S|RARG_ENST00000327550.3_Missense_Mutation_p.P370S	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	442					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGCCCCCAGGAACCTCATCC	0.632000													25	13					0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145719546	145719546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:145719546G>A	ENST00000230732.4	+	2	645	c.556G>A	c.(556-558)Gag>Aag	p.E186K	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	186	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGACCCGCGCGAGCTGGAAGC	0.682000													42	36					0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122217508	122217508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:122217508G>A	ENST00000267205.2	-	5	1160	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	TMEM120B_ENST00000449592.2_3'UTR|TMEM120B_ENST00000538055.1_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	178					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		ACATTCTCCCGAAACTTGGCG	0.642000													154	107					0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607537	31607537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:31607537C>T	ENST00000170150.3	+	11	1256	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F		NM_025227.1	NP_079503.1	Q8N4F0	BPIL1_HUMAN	BPI fold containing family B, member 2	354						extracellular region	lipid binding										GCTTTCCAGTCCCTCTTCTCC	0.627000													15	65					0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65214128	65214128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:65214128G>A	ENST00000380230.3	+	4	305	c.276G>A	c.(274-276)atG>atA	p.M92I	ANKDD1A_ENST00000496660.1_Start_Codon_SNP_p.M1I|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.M92I|ANKDD1A_ENST00000319580.8_Missense_Mutation_p.E15K|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.M92I|ANKDD1A_ENST00000395723.1_Start_Codon_SNP_p.M1I|AC069368.3_ENST00000437723.1_Missense_Mutation_p.M164I	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	92					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AGTTTGGGATGAATGCGCTTC	0.542000													36	54					0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634404	206634404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:206634404C>T	ENST00000414007.1	+	19	2435	c.2435C>T	c.(2434-2436)tCg>tTg	p.S812L				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	952					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACAATGAACTCGGCCCTGAAT	0.537000													28	117					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44147820	44147820	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:44147820C>T	ENST00000542245.1	+	14	1598	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	CAPN11_ENST00000398776.1_Silent_p.I520I			Q9UMQ6	CAN11_HUMAN	calpain 11	520	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGGAATATATCATTATTCCCT	0.542000													30	69					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888345	38888345	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38888345A>T	ENST00000450244.1	-	26	5414	c.5216T>A	c.(5215-5217)aTt>aAt	p.I1739N	SCN11A_ENST00000302328.3_Missense_Mutation_p.I1739N|SCN11A_ENST00000456224.3_Missense_Mutation_p.I1701N			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1739					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CTTTTGAATAATAGCAGCACC	0.453000													131	90					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70236595	70236595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:70236595C>T	ENST00000342771.4	+	11	2116	c.1795C>T	c.(1795-1797)Cct>Tct	p.P599S	AUTS2_ENST00000406775.2_Missense_Mutation_p.P599S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	599										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)		ACCCACTGGCCCTTTTGGTTC	0.532000													115	98					0	0	1	0	0
TMEM14A	28978	broad.mit.edu	37	6	52546633	52546633	+	Silent	SNP	T	T	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:52546633T>A	ENST00000211314.4	+	3	246	c.93T>A	c.(91-93)gcT>gcA	p.A31A		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	31						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					CTTTGATTGCTGGTCTTTTTG	0.408000													44	53					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103297818	103297818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:103297818G>A	ENST00000520539.1	-	39	6013	c.5407C>T	c.(5407-5409)Cct>Tct	p.P1803S	UBR5_ENST00000521922.1_Missense_Mutation_p.P1797S|UBR5_ENST00000220959.4_Missense_Mutation_p.P1803S	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1803					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTATACTTAGGAATAAGGCCC	0.423000													111	12					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131521956	131521956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:131521956G>A	ENST00000423981.1	+	2	2421	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	AMER3_ENST00000321420.4_Missense_Mutation_p.E771K	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGCCTCTGTGGAGGACCAGCC	0.677000													15	19					0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033760	82033760	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:82033760G>A	ENST00000328945.5	-	3	265	c.138C>T	c.(136-138)acC>acT	p.T46T	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	46					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTTCTGGAATGGTTTGAGCAG	0.458000													77	117					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													3	124					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588671	247588671	+	Silent	SNP	C	C	T	rs34698071	byFrequency	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:247588671C>T	ENST00000366497.2	+	4	2706	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	NLRP3_ENST00000391828.3_Silent_p.F642F|NLRP3_ENST00000348069.2_Silent_p.F642F|NLRP3_ENST00000391827.2_Silent_p.F642F|NLRP3_ENST00000336119.3_Silent_p.F642F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.F642F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	642					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAGGACTTCGTGCAAAGGG	0.468000													23	177					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39606961	39606961	+	Silent	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:39606961A>G	ENST00000265708.4	-	18	1987	c.1884T>C	c.(1882-1884)aaT>aaC	p.N628N	ADAM2_ENST00000379853.2_Silent_p.N472N|ADAM2_ENST00000347580.4_Silent_p.N609N|ADAM2_ENST00000521880.1_Silent_p.N565N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	628	EGF-like.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCTTTTTGTTATTGCATACCT	0.343000													57	129					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49445230	49445230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:49445230G>A	ENST00000301067.7	-	10	2235	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCTCAGGCCGGGGTGACAGG	0.697000													33	92					0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926270	112926270	+	Missense_Mutation	SNP	C	C	T	rs121918457		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:112926270C>T	ENST00000351677.2	+	12	1601	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	472	Substrate binding (By similarity).|Tyrosine-protein phosphatase.		G -> A (in LEOPARD1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.T468M(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CGGACAGGGACGTTCATTGTG	0.443000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				125	92					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102649474	102649474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:102649474C>T	ENST00000279441.4	-	4	539	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	168					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GTAAAAGTCTCCATGTTCTGA	0.373000													57	5					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31128392	31128392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:31128392G>A	ENST00000597505.1	-	11	1702	c.1703C>T	c.(1702-1704)tCg>tTg	p.S568L	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	228					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTCTTCAGCGAAAGTGGATT	0.428000											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	66					0	0	1	0	0
SRXN1	140809	broad.mit.edu	37	20	629487	629487	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:629487G>A	ENST00000381962.3	-	2	469	c.285C>T	c.(283-285)tcC>tcT	p.S95S	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	95					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						AGCCCCCAAAGGAGTAGAAGT	0.607000													33	71					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594854	55594854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:55594854C>T	ENST00000378397.1	+	1	160	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R54G(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GGTCAGCTCTCGGCTCCACAC	0.473000										HNSCC(27;0.073)			157	290					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29848109	29848109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:29848109G>A	ENST00000399218.4	-	6	2408	c.2353C>T	c.(2353-2355)Ccg>Tcg	p.P785S	GAREM_ENST00000269209.6_Missense_Mutation_p.P786S	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		AGATGGAGCGGAGATGAGAAA	0.552000													32	20					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071212	70071212	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:70071212C>T	ENST00000370598.1	+	29	4868	c.4047C>T	c.(4045-4047)ttC>ttT	p.F1349F	BAI3_ENST00000238918.8_Silent_p.F555F|BAI3_ENST00000546190.1_Silent_p.F313F	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1349					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACCCTGAATTCAATATGAATC	0.413000													29	32					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34238207	34238207	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:34238207C>T	ENST00000373381.4	-	13	1985	c.1809G>A	c.(1807-1809)aaG>aaA	p.K603K	CSMD2_ENST00000338325.1_Silent_p.K211K	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	563	CUB 4.					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)				ATTGGTTATTCTTTTGGCATG	0.587000													55	99					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41388426	41388426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:41388426G>A	ENST00000361937.3	-	2	507	c.83C>T	c.(82-84)gCc>gTc	p.A28V	INO80_ENST00000401393.3_Missense_Mutation_p.A28V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	28	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAACCGGAGGGCCCTCTCCAA	0.458000													19	28					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857975	9857975	+	Silent	SNP	G	G	A	rs150487431		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:9857975G>A	ENST00000396573.2	-	14	3735	c.3426C>T	c.(3424-3426)ccC>ccT	p.P1142P	GRIN2A_ENST00000404927.2_Silent_p.P1142P|GRIN2A_ENST00000535259.1_Silent_p.P985P|GRIN2A_ENST00000396575.2_Silent_p.P1142P|GRIN2A_ENST00000562109.1_Silent_p.P1142P|GRIN2A_ENST00000330684.3_Silent_p.P1142P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1142					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACGTTCTCGGGCAGGGTCA	0.522000													80	75					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100371397	100371397	+	RNA	SNP	C	C	T	rs144009891	by1000genomes	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:100371397C>T	ENST00000542585.1	+	0	5836				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCACCTGCTCCGTCCACAACA	0.597000													11	37					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55532201	55532201	+	Splice_Site	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:55532201G>A	ENST00000219070.4	+	11	2119	c.1609_splice	c.e11-1	p.G537_splice	MMP2_ENST00000437642.2_Splice_Site_p.G487_splice|MMP2_ENST00000570308.1_Splice_Site_p.G461_splice|MMP2_ENST00000543485.1_Splice_Site_p.G461_splice	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	537	Hemopexin-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TCCACCCCAGGGAATGAATAC	0.612000													41	93					0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191843720	191843720	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:191843720T>G	ENST00000361099.3	-	21	2122	c.1735A>C	c.(1735-1737)Atg>Ctg	p.M579L	STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.M579L|STAT1_ENST00000392323.2_Missense_Mutation_p.M581L|STAT1_ENST00000409465.1_Missense_Mutation_p.M579L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	579	SH2.				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATGAAGCCCATGATGCACCTG	0.517000													20	20					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111321968	111321968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:111321968G>A	ENST00000308208.5	+	8	1230	c.988G>A	c.(988-990)Gag>Aag	p.E330K	CCDC63_ENST00000545036.1_Missense_Mutation_p.E290K|CCDC63_ENST00000552694.1_Missense_Mutation_p.E251K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	330										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTGGCCAAGGAGGAGAAGAA	0.532000													87	49					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80039493	80039493	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:80039493G>A	ENST00000306749.2	-	37	6608	c.6390C>T	c.(6388-6390)gcC>gcT	p.A2130A	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2130	Acyl carrier.				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGTGTGCCACGGCCTCCACCA	0.637000													57	8					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699191	43699191	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:43699191C>T	ENST00000405312.3	-	4	1181	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG4_ENST00000244295.9_Intron|PSG4_ENST00000433626.2_Missense_Mutation_p.R222Q	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	315	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.488000													105	168					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88085181	88085181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:88085181G>A	ENST00000273963.5	-	9	1929	c.1588C>T	c.(1588-1590)Cga>Tga	p.R530*	KLHL8_ENST00000545252.1_Nonsense_Mutation_p.R179*|KLHL8_ENST00000425278.2_Nonsense_Mutation_p.R347*|KLHL8_ENST00000498875.2_Nonsense_Mutation_p.R454*|KLHL8_ENST00000512111.1_Nonsense_Mutation_p.R530*	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	530										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTGTTGCTTCGGGGGTCATAC	0.413000													29	62					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31358302	31358302	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:31358302A>G	ENST00000542188.1	-	6	1131	c.818T>C	c.(817-819)aTc>aCc	p.I273T	TRPM1_ENST00000256552.6_Missense_Mutation_p.I256T|TRPM1_ENST00000397795.2_Missense_Mutation_p.I234T	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	234					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGCAGGGAGATGTGCTTTTC	0.547000													83	129					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931888	115931888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:115931888G>A	ENST00000238256.3	-	26	3218	c.3101C>T	c.(3100-3102)tCc>tTc	p.S1034F		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	1034					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AACTCTGTGGGATGGGATGCA	0.547000													36	47					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38752339	38752339	+	Missense_Mutation	SNP	C	C	A	rs149155352		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38752339C>A	ENST00000449082.2	-	23	4138	c.4139G>T	c.(4138-4140)cGg>cTg	p.R1380L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1380					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACTCACCTCCCGGGAATCAAC	0.512000													24	36					2.12542e-12	2.13668e-12	1	1	0
CHSY1	22856	broad.mit.edu	37	15	101718317	101718317	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:101718317T>C	ENST00000254190.3	-	3	2160	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	562					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GACGTTCTGATTGGGGATAAG	0.418000													58	42					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3843000	3843000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:3843000C>T	ENST00000428216.2	+	5	693	c.565C>T	c.(565-567)Cct>Tct	p.P189S	MAVS_ENST00000416600.2_Missense_Mutation_p.P48S|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	189					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGCCCTCAGCCCTCTGACCTC	0.587000													49	86					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830272	147830272	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:147830272G>A	ENST00000513335.1	-	6	583	c.384C>T	c.(382-384)tcC>tcT	p.S128S	TTC29_ENST00000398886.4_Silent_p.S128S|TTC29_ENST00000325106.4_Silent_p.S102S			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	102							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCAGAAGAGGGACCTGACTC	0.562000													36	58					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117779388	117779388	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:117779388G>A	ENST00000528626.1	-	8	1189	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	TMPRSS13_ENST00000445164.2_Silent_p.T407T|TMPRSS13_ENST00000430170.2_Silent_p.T407T|TMPRSS13_ENST00000526090.1_Silent_p.T407T|TMPRSS13_ENST00000524993.1_Silent_p.T407T	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	402	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCTCCTCATCGGTGTAATTGC	0.617000													13	0					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75519788	75519788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:75519788C>T	ENST00000339365.2	+	6	656	c.494C>T	c.(493-495)tCg>tTg	p.S165L	SEC24C_ENST00000546025.1_Missense_Mutation_p.S23L|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.S165L|SEC24C_ENST00000411652.2_Missense_Mutation_p.S23L	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	165					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCACCAACATCGCTGGCTTCA	0.542000													80	97					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99697843	99697843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:99697843G>A	ENST00000357195.3	-	3	488	c.479C>T	c.(478-480)tCc>tTc	p.S160F	BCL11B_ENST00000345514.2_Intron|BCL11B_ENST00000443726.2_Intron	NM_138576.2	NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	160						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GTGAGGGTGGGAGGAGGCAGC	0.672000			T	TLX3	T-ALL								12	18					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466439	131466439	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:131466439T>G	ENST00000261654.5	+	5	880	c.321T>G	c.(319-321)ttT>ttG	p.F107L	GPR133_ENST00000535015.1_Missense_Mutation_p.F139L	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	107					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGGTCACGTTTTCTTTTTTCT	0.463000													100	46					0	0	1	0	0
NDFIP1	80762	broad.mit.edu	37	5	141511870	141511870	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:141511870C>T	ENST00000253814.4	+	3	715	c.245C>T	c.(244-246)aCc>aTc	p.T82I	NDFIP1_ENST00000509436.1_Intron	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1	82					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGAGGACCAAGGCTGAA	0.438000													78	77					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040302	107040302	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:107040302C>T	ENST00000409886.3	-	20	4208	c.4121G>A	c.(4120-4122)tGg>tAg	p.W1374*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.W1374*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1374	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTTTCTTTCCATTGACCAAC	0.358000													73	131					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46482954	46482954	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:46482954C>T	ENST00000231751.4	-	14	1971	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	LTF_ENST00000493056.1_5'UTR|LTF_ENST00000426532.2_Missense_Mutation_p.G515E|LTF_ENST00000417439.1_Missense_Mutation_p.G557E	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	559	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGCAACGTCTCCAGCATTCTC	0.393000													58	105					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21760756	21760756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:21760756C>T	ENST00000382254.1	-	13	2630	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.R515Q|CDH12_ENST00000522262.1_Missense_Mutation_p.R475Q|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	515	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGAAAGATCTCGGTCTGCAGC	0.408000										HNSCC(59;0.17)			128	82					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142227206	142227206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:142227206G>A	ENST00000519067.1	-	5	1862	c.1559C>T	c.(1558-1560)aCt>aTt	p.T520I	SLC45A4_ENST00000024061.3_Missense_Mutation_p.T520I|SLC45A4_ENST00000517878.1_Missense_Mutation_p.T571I|SLC45A4_ENST00000433583.2_Missense_Mutation_p.T513I			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	571					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AATAGCACCAGTGGCGGCATA	0.562000													84	10					0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365764	13365764	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:13365764G>A	ENST00000379287.3	-	2	1048	c.384C>T	c.(382-384)ttC>ttT	p.F128F	GFOD1_ENST00000379284.1_Silent_p.F25F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	128						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCATGCGCACGAAAGCCGGCA	0.647000													160	92					0	0	1	0	0
OVOL2	58495	broad.mit.edu	37	20	18022303	18022303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:18022303C>T	ENST00000278780.6	-	3	628	c.386G>A	c.(385-387)cGt>cAt	p.R129H	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	129					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCGCTGCAGACGGAAGCCCTT	0.612000													63	57					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848673	42848673	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:42848673C>T	ENST00000334370.4	+	11	2504	c.1869C>T	c.(1867-1869)gcC>gcT	p.A623A	MEGF8_ENST00000251268.6_Silent_p.A623A	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	626						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCCCACAGCCCCTCCACGGG	0.716000													10	23					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756888	56756888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:56756888C>T	ENST00000326855.2	+	1	542	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGTTCACTGTCCTTCTGCAAG	0.418000													203	154					0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12294300	12294300	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:12294300G>A	ENST00000379375.5	+	3	627	c.360G>A	c.(358-360)tgG>tgA	p.W120*		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	120	Endothelin-like.				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AGAAGTGCTGGAATTTTTGCC	0.453000													109	9					0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880055	37880055	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:37880055C>T	ENST00000436120.2	+	5	1211	c.1104C>T	c.(1102-1104)agC>agT	p.S368S	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGCCTTTAGCCGTTATGCCT	0.438000													27	70					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196762408	196762408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:196762408C>T	ENST00000312428.6	-	29	4730	c.4630G>A	c.(4630-4632)Gat>Aat	p.D1544N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1544					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTGGTAAATCATGGGATAAA	0.289000													25	30					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694842	219694842	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:219694842C>T	ENST00000439262.2	-	4	512	c.417G>A	c.(415-417)caG>caA	p.Q139Q	PRKAG3_ENST00000392098.3_Silent_p.Q164Q|PRKAG3_ENST00000529249.1_Silent_p.Q164Q|PRKAG3_ENST00000545803.1_5'UTR	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	164					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			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)		GAAATGGGGCCTGCGGGGACA	0.627000													45	60					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18631225	18631225	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:18631225A>T	ENST00000406451.3	+	5	643	c.493A>T	c.(493-495)Aaa>Taa	p.K165*	HDAC9_ENST00000456174.2_Nonsense_Mutation_p.K137*|HDAC9_ENST00000441542.2_Nonsense_Mutation_p.K168*|HDAC9_ENST00000417496.2_Nonsense_Mutation_p.K207*|HDAC9_ENST00000428307.2_Nonsense_Mutation_p.K165*|HDAC9_ENST00000401921.1_Nonsense_Mutation_p.K168*|HDAC9_ENST00000524023.1_Nonsense_Mutation_p.K134*|HDAC9_ENST00000432645.2_Nonsense_Mutation_p.K165*|HDAC9_ENST00000406072.1_Nonsense_Mutation_p.K196*|HDAC9_ENST00000405010.3_Nonsense_Mutation_p.K165*	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	165					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AACTAATGGAAAAAATCATTC	0.438000													19	31					0	0	1	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36603473	36603473	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:36603473A>C	ENST00000373166.3	-	4	437	c.347T>G	c.(346-348)gTg>gGg	p.V116G	TRAPPC3_ENST00000462715.1_5'UTR|TRAPPC3_ENST00000373162.1_Missense_Mutation_p.V70G|TRAPPC3_ENST00000373163.1_Missense_Mutation_p.V70G	NM_001270896.1|NM_014408.3	NP_001257825.1|NP_055223.1	O43617	TPPC3_HUMAN	trafficking protein particle complex 3	116						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				AGGAAGTTCCACAAAGTCCAC	0.448000													49	80					0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195389	19195389	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:19195389G>C	ENST00000562034.1	+	3	4486	c.688G>C	c.(688-690)Ggg>Cgg	p.G230R	SYT17_ENST00000568115.1_Missense_Mutation_p.G230R|SYT17_ENST00000562711.2_Missense_Mutation_p.G287R|SYT17_ENST00000355377.2_Missense_Mutation_p.G291R			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	291	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTGTGTCATTGGGAAAGTTTC	0.562000													130	154					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189338	98189338	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:98189338G>A	ENST00000332650.5	+	1	1015	c.918G>A	c.(916-918)atG>atA	p.M306I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAATTCTGATGAAGAAATAAT	0.313000													4	9					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112333500	112333500	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:112333500T>C	ENST00000361804.4	+	3	253	c.127T>C	c.(127-129)Tat>Cat	p.Y43H	SMC3_ENST00000462899.1_3'UTR	NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	43					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TAACTTTTTTTATGGTAGGTG	0.269000													21	23					0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96140241	96140241	+	Silent	SNP	C	C	T	rs147827953	byFrequency	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:96140241C>T	ENST00000453304.1	-	9	1872	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	UNC5C_ENST00000506749.1_Silent_p.S527S	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	508					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTCCAACAACGACTGGGTCA	0.527000													61	50					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6611628	6611628	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:6611628T>C	ENST00000285599.3	+	13	2146	c.2110T>C	c.(2110-2112)Tac>Cac	p.Y704H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Y653H|MAN2B2_ENST00000504960.1_3'UTR	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	704					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGAGCAGGAGTACCAAGCCGG	0.597000													29	35					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45614655	45614655	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:45614655C>T	ENST00000297323.7	+	1	535	c.513C>T	c.(511-513)ttC>ttT	p.F171F	ADCY1_ENST00000432715.1_5'UTR	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	171					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGGTCACCTTCGTGTCCTATG	0.697000													14	35					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49409374	49409374	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:49409374G>A	ENST00000374201.3	-	15	2153	c.1851C>T	c.(1849-1851)gtC>gtT	p.V617V	FRMPD2_ENST00000305531.3_Silent_p.V592V|FRMPD2_ENST00000407470.4_Silent_p.V585V	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	617	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGAATCTGTGACAAATGTGT	0.458000													67	100					0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808276	1808276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:1808276C>T	ENST00000518288.1	+	5	642	c.479C>T	c.(478-480)cCc>cTc	p.P160L	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.P136L|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.P160L|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.P136L|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.P160L|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.P160L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	160					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TATGCGGTGCCCTCCAACCTG	0.672000													44	138					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037720	75037720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:75037720C>T	ENST00000326665.5	-	14	3892	c.3674G>A	c.(3673-3675)gGa>gAa	p.G1225E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1225	Glu-rich.							p.G1225E(1)		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						CTGCACCTTTCCTGCTGGCTC	0.627000													42	41					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111386434	111386434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:111386434C>T	ENST00000428084.1	-	44	4905	c.4633G>A	c.(4633-4635)Gat>Aat	p.D1545N	DOCK4_ENST00000437633.1_Missense_Mutation_p.D1536N|DOCK4_ENST00000494651.2_Missense_Mutation_p.D419N			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1536	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)				TTCTCCCCATCTTCAGGGTGA	0.428000													16	15					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034854	58034854	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:58034854G>A	ENST00000395079.2	-	1	878	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	159					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)				GAGCCTGGCAGAATGGCAGAG	0.493000													32	18					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37362678	37362678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:37362678G>A	ENST00000233057.4	-	10	1056	c.734C>T	c.(733-735)cCc>cTc	p.P245L	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.P245L|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.P245L	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	245					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GTCAAATCTGGGTGCCAAAGA	0.318000													66	69					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408077	47408077	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:47408077G>A	ENST00000398879.1	-	17	2532	c.2166C>T	c.(2164-2166)gcC>gcT	p.A722A	TNS3_ENST00000355730.3_Silent_p.A482A|TNS3_ENST00000311160.9_Silent_p.A722A			Q68CZ2	TENS3_HUMAN	tensin 3	722						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGCTACCGAGGGCGTTCATGT	0.652000													170	113					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967181	93967181	+	Splice_Site	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:93967181C>T	ENST00000369303.4	-	12	2355	c.2172_splice	c.e12+1	p.R724_splice		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	724	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGTACTTACCCTGAGAAATGC	0.323000													14	13					0	0	1	0	0
SELT	51714	broad.mit.edu	37	3	150321205	150321205	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:150321205C>T	ENST00000471696.1	+	1	131	c.56C>T	c.(55-57)gCc>gTc	p.A19V	SELT_ENST00000485923.1_5'UTR|SELT_ENST00000480740.1_Intron|SELT_ENST00000477889.1_5'UTR	NM_016275.3	NP_057359.2	P62341	SELT_HUMAN		19					cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGGAGCGAGGCCTCGGCCAAT	0.607000													40	14					0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91196032	91196032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:91196032C>T	ENST00000341233.4	-	7	1373	c.983G>A	c.(982-984)gGa>gAa	p.G328E	SLC16A12_ENST00000371790.4_Missense_Mutation_p.G358E	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	328						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CCCATCCATTCCCACGGCAAA	0.458000													41	48					0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10183811	10183811	+	Nonsense_Mutation	SNP	G	G	T	rs5030829		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:10183811G>T	ENST00000256474.2	+	1	1120	c.280G>T	c.(280-282)Gag>Tag	p.E94*	VHL_ENST00000345392.2_Nonsense_Mutation_p.E94*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	94			Missing (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.E94fs*39(1)|p.E94*(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.P95fs*38(1)|p.E94fs*37(1)|p.V84_E94>E(1)|p.E94fs*66(1)|p.D92fs*65(1)|p.N90fs*38(1)|p.F91_E94del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTTCGACGGCGAGCCGCAGCC	0.701000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				41	32					1.67211e-32	1.71042e-32	1	1	0
IGLV4-60	28785	broad.mit.edu	37	22	22516827	22516827	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:22516827G>A	ENST00000390284.2	+	0	115																											GGGATCCTCGGTCAAGCTCAC	0.557000													55	134					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702993	27702993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:27702993C>T	ENST00000438700.3	-	1	304	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	63					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCATCCTGCTCCGACGCCAGG	0.692000													64	91					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101804367	101804367	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:101804367T>A	ENST00000375001.3	+	24	2975	c.2552T>A	c.(2551-2553)tTt>tAt	p.F851Y		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	851	Triple-helical region 4 (COL4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTACCTGGCTTTCCAGGACTA	0.418000													48	58					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581854	99581854	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:99581854T>A	ENST00000481138.1	-	6	1112	c.451A>T	c.(451-453)Atg>Ttg	p.M151L	ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_Missense_Mutation_p.M19L	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGTGGGGCCATCAGGCTGAGC	0.438000													50	64					0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10183810	10183810	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:10183810C>T	ENST00000256474.2	+	1	1119	c.279C>T	c.(277-279)ggC>ggT	p.G93G	VHL_ENST00000345392.2_Silent_p.G93G	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	93			G -> C (in pheochromocytoma and VHLD; type II; dbSNP:rs5030808).|G -> D (in VHLD).|G -> S (in pheochromocytoma and VHLD; type II; dbSNP:rs5030808).|Missing (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.E94fs*39(1)|p.F91fs*64(1)|p.R60fs*35(1)|p.E94fs*37(1)|p.V84_E94>E(1)|p.D92fs*65(1)|p.N90fs*38(1)|p.F91_E94del(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACTTCGACGGCGAGCCGCAGC	0.706000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				41	31					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143953	55143953	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:55143953C>T	ENST00000396331.1	+	7	1057	c.700C>T	c.(700-702)Cct>Tct	p.P234S	LILRB1_ENST00000396317.1_Missense_Mutation_p.P234S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P234S|LILRB1_ENST00000427581.2_Missense_Mutation_p.P270S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P234S|LILRB1_ENST00000448689.1_Missense_Mutation_p.P234S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P234S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P234S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P234S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P234S|LILRB1_ENST00000396321.2_Missense_Mutation_p.P234S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	234	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P234S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCAGCCAGGTCCTATCGTGGC	0.537000										HNSCC(37;0.09)			82	76					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38781039	38781039	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38781039C>T	ENST00000449082.2	-	14	2246	c.2247G>A	c.(2245-2247)aaG>aaA	p.K749K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	749					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACAGGCTTCCCTTCTTGGCCA	0.502000													32	75					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922136	190922136	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:190922136G>A	ENST00000260950.4	-	3	1108	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	326					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGGTGTACCAGATGAGTATGA	0.383000													27	55					0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45047410	45047410	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:45047410C>T	ENST00000559390.1	+	3	1247	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000329464.4_Missense_Mutation_p.P107S|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000338264.4_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	107	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TAAGAAGTTACCCTTACTCAA	0.433000													34	39					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841837	70841837	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:70841837G>A	ENST00000393567.2	-	86	15162	c.15012C>T	c.(15010-15012)atC>atT	p.I5004I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5004										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCGATGATAGGATCAGGATGC	0.577000													58	92					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868031	23868031	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:23868031C>T	ENST00000405093.3	-	15	1867	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K	MYH6_ENST00000356287.3_Silent_p.K599K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	599	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGAGAGGATCCTTGTTTTTTT	0.552000													48	127					0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167508241	167508241	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:167508241C>T	ENST00000295777.5	+	3	763	c.332C>T	c.(331-333)tCc>tTc	p.S111F	SERPINI1_ENST00000446050.2_Missense_Mutation_p.S111F	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	111					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.S111F(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ATTGCCAATTCCTTGTTTGTG	0.328000													30	92					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234497	8234497	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:8234497G>A	ENST00000520004.1	-	3	1686	c.1422C>T	c.(1420-1422)gtC>gtT	p.V474V	SGK223_ENST00000330777.4_Silent_p.V474V			Q86YV5	SG223_HUMAN		474							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGGCCGCCATGACTGTGATGG	0.642000													67	43					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133747	22133747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:22133747G>A	ENST00000408935.1	+	1	451	c.451G>A	c.(451-453)Ggg>Agg	p.G151R		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCTCTGGTTGGGGGGTACTGT	0.483000													71	164					0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	874684	874684	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:874684C>T	ENST00000342066.3	+	7	633	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	184						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGAGCTGGGGCCCAGCATGGC	0.692000													12	7					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749117	8749117	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:8749117A>C	ENST00000276282.6	-	1	2038	c.1452T>G	c.(1450-1452)taT>taG	p.Y484*		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	484	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGATCACCTCATAACTTTCAT	0.607000													39	102					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570375	136570375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:136570375G>A	ENST00000264162.2	-	7	1869	c.1859C>T	c.(1858-1860)tCt>tTt	p.S620F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	620	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAGCGCTCAGAGGCTCTCAG	0.592000													45	58					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21148696	21148696	+	Silent	SNP	A	A	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:21148696A>C	ENST00000377122.4	-	8	1140	c.744T>G	c.(742-744)ccT>ccG	p.P248P	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	248					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CACTTTCAAGAGGATTGTAAT	0.284000													27	35					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953581	140953581	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:140953581C>T	ENST00000277549.5	+	31	4681	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	CACNA1B_ENST00000371357.1_Silent_p.I1509I|CACNA1B_ENST00000371363.1_Silent_p.I1508I|CACNA1B_ENST00000371355.4_Silent_p.I1509I|CACNA1B_ENST00000371372.1_Silent_p.I1508I|CACNA1B_ENST00000277551.2_Silent_p.I1508I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1508					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCCTGAACATCGTGTTCACAT	0.517000													27	36					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1117449	1117449	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:1117449A>G	ENST00000361757.3	-	15	1814	c.1577T>C	c.(1576-1578)cTg>cCg	p.L526P	SBNO2_ENST00000438103.2_Missense_Mutation_p.L469P|SBNO2_ENST00000587024.1_Missense_Mutation_p.L516P	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	526					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGACTCCAGGCCGATCCA	0.657000													9	13					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237395476	237395476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:237395476C>T	ENST00000409907.3	-	5	990	c.716G>A	c.(715-717)gGt>gAt	p.G239D	IQCA1_ENST00000431676.2_Missense_Mutation_p.G239D|IQCA1_ENST00000309507.5_Missense_Mutation_p.G235D			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	239							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ACTTACCATACCCAGGAAGAT	0.348000													3	9					0	0	1	0	0
MIR1185-2	100302209	broad.mit.edu	37	14	101510585	101510585	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:101510585G>A	ENST00000408687.1	+	0	51					NR_031571.1																						GATTAATGGCGAATATACAGG	0.507000													28	90					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38934361	38934361	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:38934361C>G	ENST00000355481.4	+	5	480	c.349C>G	c.(349-351)Ctg>Gtg	p.L117V	RYR1_ENST00000359596.3_Missense_Mutation_p.L117V|RYR1_ENST00000360985.3_Missense_Mutation_p.L117V	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	117	MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCCTAGTATCTGAGCTGCCT	0.642000													86	194					0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349572	103349572	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:103349572C>A	ENST00000357421.4	-	2	549	c.369G>T	c.(367-369)atG>atT	p.M123I		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	123					transport	integral to membrane|mitochondrial inner membrane											CCACGCCAGACATGAGCCCGG	0.592000													111	10					1.14936e-50	1.18047e-50	1	1	0
MALT1	10892	broad.mit.edu	37	18	56363682	56363682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:56363682C>T	ENST00000348428.3	+	3	719	c.461C>T	c.(460-462)cCt>cTt	p.P154L	MALT1_ENST00000345724.3_Missense_Mutation_p.P154L|RP11-126O1.4_ENST00000588835.1_RNA	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	154	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						ACTGGACATCCTTTTGTTCAA	0.323000			T	BIRC3	MALT								46	36					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401385	34401385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:34401385C>T	ENST00000373381.4	-	4	864	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	190	CUB 2.					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)				AGGGGGAAGTCCCACGTGGCG	0.637000													24	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604798	179604798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:179604798G>A	ENST00000589042.1	-	48	13386	c.13162C>T	c.(13162-13164)Cca>Tca	p.P4388S	TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.P4025S|TTN_ENST00000359218.5_Missense_Mutation_p.P4150S|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P4071S|TTN_ENST00000342175.6_Missense_Mutation_p.P4217S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4071	Ig-like 24.						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)			TGCTCTTCTGGAATACCAGAA	0.473000													14	26					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113849954	113849954	+	Splice_Site	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:113849954G>A	ENST00000504030.2	+	3	664		c.e3-1		HTR3A_ENST00000375498.2_Splice_Site|HTR3A_ENST00000535865.1_Splice_Site|HTR3A_ENST00000506841.2_Splice_Site|HTR3A_ENST00000299961.5_Splice_Site|HTR3A_ENST00000355556.2_Splice_Site			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic						digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCCTTTCCCAGGATGAGAAGA	0.597000													75	11					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142315	55142315	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:55142315G>A	ENST00000370862.3	+	5	1236	c.900G>A	c.(898-900)agG>agA	p.R300R		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	300					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAGCCAGAAGGAAAACAGCCC	0.488000													23	50					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101484342	101484342	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:101484342C>T	ENST00000341893.3	+	11	3297	c.2545C>T	c.(2545-2547)Cag>Tag	p.Q849*	CEP97_ENST00000327230.4_Nonsense_Mutation_p.Q875*|CEP97_ENST00000494050.1_Nonsense_Mutation_p.Q790*			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	849						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TCAGGGGCAGCAGCCAGAATG	0.398000													47	168					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869600	151869600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:151869600C>T	ENST00000329342.5	+	3	515	c.290C>T	c.(289-291)aCc>aTc	p.T97I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	97							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCAAGCACCTTCCCTGAC	0.567000													92	6					0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272265	158272265	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:158272265C>T	ENST00000264192.3	-	8	1125	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	CYTIP_ENST00000540637.1_Missense_Mutation_p.G229E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	335					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCGGACACTTCCCTTTCTGCT	0.502000													44	47					0	0	1	0	0
DEFB116	245930	broad.mit.edu	37	20	29896336	29896336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:29896336G>A	ENST00000400549.1	-	1	52	c.53C>T	c.(52-54)gCt>gTt	p.A18V		NM_001037731.1	NP_001032820.1	Q30KQ4	DB116_HUMAN	defensin, beta 116	18					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGTCTTTTGAGCCAGGATCAT	0.483000													55	123					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858706	38858706	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:38858706G>A	ENST00000409235.3	+	26	3064	c.2949G>A	c.(2947-2949)tgG>tgA	p.W983*	CATSPERG_ENST00000410018.1_Nonsense_Mutation_p.W943*|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	983					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GCCTTATCTGGACCACGAGGA	0.612000													102	278					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31565048	31565048	+	Splice_Site	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:31565048C>T	ENST00000379416.3	-	32	3568		c.e32+1			NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase						purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAACTTCTTACCTTATGATCT	0.418000													42	46					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168097225	168097225	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:168097225C>T	ENST00000409195.1	+	7	1110	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	XIRP2_ENST00000409605.1_Missense_Mutation_p.H119Y|XIRP2_ENST00000295237.9_Missense_Mutation_p.H341Y|XIRP2_ENST00000420519.1_Missense_Mutation_p.H374Y|XIRP2_ENST00000409273.1_Missense_Mutation_p.H119Y|XIRP2_ENST00000409043.1_Missense_Mutation_p.H341Y|XIRP2_ENST00000409728.1_Missense_Mutation_p.H374Y|XIRP2_ENST00000409756.2_Missense_Mutation_p.H341Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	166					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCTCAGTTTCATCAATATGT	0.333000													42	40					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915863	26915863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:26915863C>T	ENST00000231021.4	-	3	570	c.398G>A	c.(397-399)aGa>aAa	p.R133K		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	133	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R133I(1)		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						CCCAGTTTTTCTGTCTATAGC	0.368000													87	169					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40796416	40796416	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:40796416C>T	ENST00000381782.2	+	9	1700	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	NSUN7_ENST00000316607.5_Missense_Mutation_p.S402F	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AAAGATCACTCTCAAGGAGGC	0.328000													26	25					0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99695821	99695821	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:99695821G>A	ENST00000303887.5	-	7	1458	c.813C>T	c.(811-813)gtC>gtT	p.V271V	MCM7_ENST00000343023.6_Silent_p.V271V|MCM7_ENST00000354230.3_Silent_p.V95V	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	271					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CAGTGACGCTGACGTGGTCTC	0.522000													31	63					0	0	1	0	0
CMTM2	146225	broad.mit.edu	37	16	66621933	66621933	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:66621933G>A	ENST00000268595.2	+	4	809	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	CMTM2_ENST00000379486.2_Missense_Mutation_p.E167K	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	220					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TCCAGGAAAGGAAAAAGGACC	0.527000													35	49					0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs143925165	by1000genomes	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403000													5	194					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981622	40981622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:40981622G>A	ENST00000313164.9	+	18	2838	c.2479G>A	c.(2479-2481)Ggg>Agg	p.G827R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	827	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAGATGCAGAGGGCAGAGCAT	0.577000													32	27					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99306665	99306665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:99306665G>A	ENST00000336374.2	-	11	1248	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	416					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TACCTTTCAGGGAGGAACTTC	0.507000													8	58					0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28599288	28599288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:28599288C>T	ENST00000253063.3	+	5	1055	c.734C>T	c.(733-735)cCg>cTg	p.P245L		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	245					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGGACCCGTTGAACAAC	0.612000													18	20					0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23945391	23945391	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:23945391G>A	ENST00000379211.3	+	6	1008	c.459G>A	c.(457-459)agG>agA	p.R153R		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	153										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TGGGGGAAAGGAAATTTCACC	0.348000													53	5					0	0	1	0	0
THY1	7070	broad.mit.edu	37	11	119290135	119290135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:119290135C>T	ENST00000284240.5	-	4	1508	c.469G>A	c.(469-471)Gat>Aat	p.D157N	USP2-AS1_ENST00000498979.2_RNA|USP2-AS1_ENST00000578923.1_RNA|USP2-AS1_ENST00000500970.1_RNA|THY1_ENST00000527590.1_5'UTR|THY1_ENST00000528522.1_Missense_Mutation_p.D157N|USP2-AS1_ENST00000530002.1_RNA|THY1_ENST00000580275.1_Missense_Mutation_p.D140N	NM_006288.3	NP_006279.2	P04216	THY1_HUMAN	Thy-1 cell surface antigen	157					angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GACATGAAATCCGTGGCCTGG	0.597000													55	4					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703277	4703277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:4703277C>T	ENST00000396950.3	-	2	904	c.665G>A	c.(664-666)cGa>cAa	p.R222Q		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGAACCGTTCGTATTATCAG	0.488000													77	100					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837757	93837757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:93837757G>A	ENST00000315765.9	+	16	2754	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	916	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAATGAAAAGGGAAGAAGAAG	0.348000													24	6					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841572	100841572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:100841572G>A	ENST00000369208.3	-	11	2143	c.1361C>T	c.(1360-1362)tCg>tTg	p.S454L	SIM1_ENST00000262901.4_Missense_Mutation_p.S454L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	454	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CACCAGCCTCGAGTGGTCAAG	0.632000													59	71					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122831409	122831409	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:122831409G>A	ENST00000264811.5	-	5	1891	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	TRPC3_ENST00000379645.3_Silent_p.F564F|TRPC3_ENST00000513531.1_Silent_p.F436F	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	479					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTGCCTGAAGGAAAGCTAGGA	0.463000													37	57					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172357745	172357745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:172357745G>A	ENST00000358155.4	+	20	2494	c.2318G>A	c.(2317-2319)aGg>aAg	p.R773K	DNM3_ENST00000355305.5_Missense_Mutation_p.R779K|DNM3_ENST00000367731.1_Missense_Mutation_p.R769K	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	779					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACCCAAAGGAGGCCAACACTA	0.547000													26	90					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767784	148767784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:148767784G>A	ENST00000316286.9	-	3	2094	c.1822C>T	c.(1822-1824)Cat>Tat	p.H608Y	ZNF786_ENST00000451334.3_Missense_Mutation_p.H657Y|ZNF786_ENST00000491431.1_Missense_Mutation_p.H694Y			Q8N393	ZN786_HUMAN	zinc finger protein 786	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGCCCTGATGGCTGAGCAGC	0.572000													73	166					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38777028	38777028	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:38777028G>A	ENST00000308973.4	-	4	789	c.184C>T	c.(184-186)Caa>Taa	p.Q62*	TLR10_ENST00000508334.1_Nonsense_Mutation_p.Q62*|TLR10_ENST00000361424.2_Nonsense_Mutation_p.Q62*|TLR10_ENST00000506111.1_Nonsense_Mutation_p.Q62*	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	62					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTCTGGAGTTGAAAAAGGAGG	0.418000													19	30					0	0	1	0	0
TOR3A	64222	broad.mit.edu	37	1	179057065	179057065	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:179057065T>G	ENST00000367627.3	+	4	1411	c.659T>G	c.(658-660)aTc>aGc	p.I220S	TOR3A_ENST00000495145.1_3'UTR|TOR3A_ENST00000352445.6_Missense_Mutation_p.I220S	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	220					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						ATGAGCCAGATCCGGGAGACG	0.612000													76	48					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425773	57425773	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:57425773C>T	ENST00000543257.1	-	3	579	c.13G>A	c.(13-15)Gat>Aat	p.D5N	C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000371237.4_Missense_Mutation_p.D57N	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	57					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AGGGTAACATCCACACTCCGC	0.483000													31	44					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97081905	97081905	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:97081905G>A	ENST00000335456.7	-	7	1450	c.1430C>T	c.(1429-1431)aCc>aTc	p.T477I	NUTM2F_ENST00000253262.4_Missense_Mutation_p.T492I|NUTM2F_ENST00000341207.4_Missense_Mutation_p.T477I					NUT family member 2F																		CTGGGCAAGGGTGAGTCCTTC	0.612000													94	126					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649585	47649585	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:47649585C>T	ENST00000398742.2	+	5	1135	c.1086C>T	c.(1084-1086)acC>acT	p.T362T	GPR111_ENST00000507065.1_Silent_p.T362T|GPR111_ENST00000296862.1_Silent_p.T430T			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	430					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AATTGTTTACCTCTTTCTCAA	0.438000													57	71					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354349	77354349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:77354349C>T	ENST00000451710.3	-	34	5753	c.5516G>A	c.(5515-5517)aGa>aAa	p.R1839K	TRPM6_ENST00000360774.1_Missense_Mutation_p.R1835K|TRPM6_ENST00000376871.3_Missense_Mutation_p.R672K|TRPM6_ENST00000376872.3_Missense_Mutation_p.R790K|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1830K|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1839K|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1830K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1835	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R1835I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGAGCAGCTCTTTGTTGTTG	0.378000													32	41					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970842	151970842	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:151970842G>A	ENST00000355193.2	-	7	1178	c.960C>T	c.(958-960)ttC>ttT	p.F320F	KMT2C_ENST00000262189.6_Silent_p.F320F					lysine (K)-specific methyltransferase 2C																		AGATGTGACTGAAATCCTGAA	0.413000													7	281					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10542696	10542696	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:10542696G>A	ENST00000583535.1	-	24	3108	c.3021C>T	c.(3019-3021)gcC>gcT	p.A1007A	MYH3_ENST00000226209.7_Silent_p.A1007A	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1007					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGTCATCCAAGGCCTGCTGGT	0.433000													44	4					0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116955301	116955301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:116955301C>T	ENST00000265441.3	-	3	711	c.412G>A	c.(412-414)Gat>Aat	p.D138N	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	138					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTCTTTGGATCACAGGAACAG	0.478000													40	97					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47033990	47033990	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:47033990G>A	ENST00000295454.3	+	2	432	c.140G>A	c.(139-141)gGa>gAa	p.G47E	GABRB1_ENST00000509366.1_3'UTR|GABRB1_ENST00000538619.1_5'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	47					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTGCTCAAAGGATATGACATT	0.443000													114	148					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131305829	131305829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:131305829C>T	ENST00000379264.2	-	15	1607	c.1499G>A	c.(1498-1500)tGg>tAg	p.W500*	ACSL6_ENST00000544770.1_Nonsense_Mutation_p.W384*|ACSL6_ENST00000296869.4_Nonsense_Mutation_p.W500*|ACSL6_ENST00000357096.1_Nonsense_Mutation_p.W400*|ACSL6_ENST00000543479.1_Nonsense_Mutation_p.W475*|ACSL6_ENST00000431707.1_Nonsense_Mutation_p.W455*|ACSL6_ENST00000379244.1_Nonsense_Mutation_p.W475*|ACSL6_ENST00000379272.2_Nonsense_Mutation_p.W490*|ACSL6_ENST00000379249.3_Nonsense_Mutation_p.W475*|ACSL6_ENST00000379246.1_Nonsense_Mutation_p.W486*|ACSL6_ENST00000379255.1_Nonsense_Mutation_p.W400*|ACSL6_ENST00000379240.1_Nonsense_Mutation_p.W475*	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	475					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTGAGGTCCAGTCGCCAGG	0.493000													181	131					0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102825329	102825329	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:102825329C>T	ENST00000260302.3	-	3	397	c.369G>A	c.(367-369)gtG>gtA	p.V123V	MMP13_ENST00000340273.4_Silent_p.V123V	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	123					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGGTGTAATTCACAATTCTAT	0.333000													41	4					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	403449	403449	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:403449C>T	ENST00000256509.2	+	13	2016	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	CHL1_ENST00000397491.2_Silent_p.F442F	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	442	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACAGTGCTTTCTTACATTGCG	0.408000													109	77					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113527198	113527198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:113527198G>A	ENST00000505019.1	-	9	2893	c.2768C>T	c.(2767-2769)cCt>cTt	p.P923L	C4orf21_ENST00000309071.5_Missense_Mutation_p.P923L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	923										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TATTTGTTTAGGAATAACAGC	0.313000													17	35					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569069	61569069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:61569069C>T	ENST00000457692.1	+	7	964	c.631C>T	c.(631-633)Cca>Tca	p.P211S	SERPINB2_ENST00000299502.4_Missense_Mutation_p.P211S|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	211					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTGGAAAACTCCATTTGAGAA	0.398000													21	79					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155170795	155170795	+	Splice_Site	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:155170795C>T	ENST00000368378.3	-	13	1461	c.1440_splice	c.e13-1	p.D481_splice	RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_Splice_Site_p.D10_splice|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000457183.2_Splice_Site_p.D361_splice|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Splice_Site_p.D331_splice|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000487250.1_5'UTR	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	481					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		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)			AGGCAGTTGTCCTAAAGTTCA	0.557000													351	136					0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858229	42858229	+	Missense_Mutation	SNP	G	G	A	rs150766064		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:42858229G>A	ENST00000455697.1	-	7	1892	c.1607C>T	c.(1606-1608)tCg>tTg	p.S536L	PRICKLE1_ENST00000345127.3_Missense_Mutation_p.S536L|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.S536L|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.S536L|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.S536L	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	536					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.S536L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGAATCCATCGAATCCCGAAC	0.413000													245	151					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114001	147114001	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:147114001G>A	ENST00000383075.3	-	3	838	c.326C>T	c.(325-327)gCg>gTg	p.A109V	ZIC4_ENST00000473123.1_Missense_Mutation_p.A109V|ZIC4_ENST00000425731.3_Missense_Mutation_p.A147V|ZIC4_ENST00000484399.1_Missense_Mutation_p.A109V|ZIC4_ENST00000525172.2_Missense_Mutation_p.A159V|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	109						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						ACCGTGGGGCGCAGCGAGGTT	0.706000													3	57					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17235161	17235161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:17235161C>T	ENST00000261381.6	-	7	1520	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	479					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGCCGATCTCCCAGGCGCCA	0.597000													40	53					0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163216050	163216050	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:163216050C>T	ENST00000437150.2	+	7	776	c.615C>T	c.(613-615)ttC>ttT	p.F205F	GCA_ENST00000429691.2_Intron|GCA_ENST00000233612.4_Silent_p.F186F	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	205					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						CTGCGAATTTCATATATGACG	0.294000													13	8					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45493754	45493754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:45493754G>A	ENST00000541297.2	+	10	1657	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	CLPTM1_ENST00000337392.5_Missense_Mutation_p.D412N|CLPTM1_ENST00000546079.1_Missense_Mutation_p.D310N			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	412					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTACATCCTGGACAACGAGAC	0.582000													82	154					0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601706	75601706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:75601706C>T	ENST00000549446.1	-	2	738	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	KCNC2_ENST00000540018.1_Missense_Mutation_p.E20K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E20K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E20K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E20K|KCNC2_ENST00000550433.1_Missense_Mutation_p.E20K|KCNC2_ENST00000341669.3_Missense_Mutation_p.E20K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E20K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	20					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGGTAGGTTTCGTGCCGGGTG	0.627000													56	125					0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43664264	43664264	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:43664264C>T	ENST00000319357.5	+	7	1247	c.1068C>T	c.(1066-1068)acC>acT	p.T356T		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	356					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTCGGATACCGACAAATCAG	0.398000													40	75					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978272	10978272	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:10978272G>A	ENST00000240619.2	-	1	685	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	199					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GTCTCCAAAGGGAAATGATTA	0.338000													50	45					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186313130	186313130	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:186313130G>A	ENST00000367478.3	-	26	3806	c.3510C>T	c.(3508-3510)gtC>gtT	p.V1170V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1170					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGAGGCAACGACCTTGTCAC	0.388000			T	NTRK1	papillary thyroid								24	73					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17232251	17232251	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:17232251G>A	ENST00000261381.6	-	8	1809	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	575					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTCATTGGGGGAGCAGCCGC	0.572000													27	69					0	0	1	0	0
SNTN	132203	broad.mit.edu	37	3	63645456	63645456	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:63645456C>T	ENST00000496807.1	+	3	191	c.189C>T	c.(187-189)ttC>ttT	p.F63F	SNTN_ENST00000343837.3_Silent_p.F67F			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	67						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						CTCTGATTTTCAGAAATTCTT	0.388000													45	140					0	0	1	0	0
KCTD17	79734	broad.mit.edu	37	22	37452391	37452391	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:37452391C>T	ENST00000403888.3	+	3	352	c.351C>T	c.(349-351)atC>atT	p.I117I	KCTD17_ENST00000402077.3_Silent_p.I117I			Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	117						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						TCTACAACATCGGCCCGCTGA	0.612000													40	70					0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869780	151869780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:151869780C>T	ENST00000329342.5	+	3	695	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	157	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCGATTCCTTGCAGCTG	0.557000													85	7					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046165	201046165	+	Silent	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:201046165G>A	ENST00000362061.3	-	12	1936	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	CACNA1S_ENST00000367338.3_Silent_p.I570I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	570					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGAAGATGACGATGAAGAGGA	0.562000													71	251					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109863822	109863822	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:109863822C>T	ENST00000310903.5	+	18	1855	c.1749C>T	c.(1747-1749)atC>atT	p.I583I	MYO1H_ENST00000431443.2_Silent_p.I593I			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCTCCTACATCCGTTGCATCA	0.512000													14	32					0	0	1	0	0
LOC101928517	101928517	broad.mit.edu	37	19	51671056	51671056	+	RNA	SNP	G	G	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:51671056G>A	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							CAGGAGGAGGGACAACGGTTC	0.517000													18	22					0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85656133	85656133	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:85656133A>T	ENST00000341460.5	-	2	1097	c.1048T>A	c.(1048-1050)Tta>Ata	p.L350I		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	350					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			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)		TTTTTCGATAATGAAGAGTTT	0.373000													6	10					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129636686	129636686	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:129636686C>T	ENST00000421865.2	+	25	3670	c.3621C>T	c.(3619-3621)acC>acT	p.T1207T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1207	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACACGACCACCAAGGGCATTG	0.468000													50	88					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884873	13884873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:13884873C>T	ENST00000327606.3	-	2	825	c.645G>A	c.(643-645)atG>atA	p.M215I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	215					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGGCCCCTTTCATGTTGGCTC	0.557000													51	25					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57185991	57185991	+	Silent	SNP	C	C	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:57185991C>T	ENST00000343433.6	-	18	2066	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	662										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGACAATAATCTCTTTGTCGT	0.308000													18	22					0	0	1	0	0
TSEN15	116461	broad.mit.edu	37	1	184041309	184041310	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:184041309_184041310delGG	ENST00000361641.1	+	4	451_452	c.372_373delGG	c.(370-375)aacafs	p.KA124fs	TSEN15_ENST00000423085.2_Intron|TSEN15_ENST00000533373.1_Frame_Shift_Del_p.KA124fs	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	124					mRNA processing|tRNA processing	nucleolus	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						AGATCTTGAAGGCATCTCGAAA	0.381													39	117	---	---	---	---					
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttg>t	p.LL208del		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	208	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													9	90	---	---	---	---					
RP11-553L6.2	0	broad.mit.edu	37	3	113951739	113951739	+	RNA	DEL	C	C	-	rs75864387		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:113951739delC	ENST00000493033.1	+	0	160				RP11-553L6.2_ENST00000481773.1_RNA																							CTGCCCCCTGCCCCCCCCCCA	0.652													5	1	---	---	---	---					
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:180666228delA	ENST00000357559.4	+	5	748	c.364delA	c.(364-366)aafs	p.K123fs	FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	123					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333													7	118	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508369	71508370	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:71508369_71508370insA	ENST00000370455.3	+	6	753_754	c.505_506insA	c.(505-507)aaafs	p.K169fs	SMAP1_ENST00000316999.5_Frame_Shift_Ins_p.K142fs|SMAP1_ENST00000370452.3_Frame_Shift_Ins_p.K142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						gaaagaaaaggaaaaaaaaaag	0.287													2	4	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157099427	157099429	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:157099427_157099429delCAG	ENST00000346085.5	+	1	365_367	c.364_366delCAG	c.(364-366)del	p.Q131del	ARID1B_ENST00000367148.1_In_Frame_Del_p.Q131del|ARID1B_ENST00000350026.5_In_Frame_Del_p.Q131del|ARID1B_ENST00000275248.4_In_Frame_Del_p.Q73del	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	131	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		gcagcagcaacagcagcagcagc	0.650													3	3	---	---	---	---					
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:18505466delT	ENST00000536719.1	-	8	928	c.794delA	c.(793-795)agfs	p.K265fs	TSG101_ENST00000357193.3_Frame_Shift_Del_p.K160fs|TSG101_ENST00000251968.3_Frame_Shift_Del_p.K265fs			Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438													9	882	---	---	---	---					
PTPN11	5781	broad.mit.edu	37	12	112920001	112920002	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:112920001_112920002insT	ENST00000351677.2	+	10	1414_1415	c.1216_1217insT	c.(1216-1218)tggfs	p.W406fs	PTPN11_ENST00000392597.1_Frame_Shift_Ins_p.W406fs	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	406	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACTTTCAAAGGTTGGACAAGTA	0.411			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				50	153	---	---	---	---					
GSX1	219409	broad.mit.edu	37	13	28367927	28367929	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr13:28367927_28367929delGGC	ENST00000302945.2	+	2	685_687	c.637_639delGGC	c.(637-639)del	p.G218del		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	218	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAACCATCgtggcggcggcggcg	0.631													7	224	---	---	---	---					
NOVA1	4857	broad.mit.edu	37	14	26917883	26917883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:26917883delC	ENST00000539517.2	-	5	1123	c.806delG	c.(805-807)gafs	p.G269fs	NOVA1_ENST00000465357.2_Frame_Shift_Del_p.G245fs|NOVA1_ENST00000267422.7_Frame_Shift_Del_p.G147fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	272					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.G269V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATAAGGAGATCCGGTTGGATT	0.483													78	155	---	---	---	---					
APBA2	321	broad.mit.edu	37	15	29346361	29346363	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:29346361_29346363delGAG	ENST00000558402.1	+	5	873_875	c.274_276delGAG	c.(274-276)del	p.E95del	APBA2_ENST00000558330.1_In_Frame_Del_p.E95del|APBA2_ENST00000411764.1_In_Frame_Del_p.E95del|APBA2_ENST00000561069.1_In_Frame_Del_p.E95del|APBA2_ENST00000558259.1_In_Frame_Del_p.E95del			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	95	Poly-Glu.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGCCTCCCTGAGGAGGAGGAGG	0.601													7	436	---	---	---	---					
SPG11	80208	broad.mit.edu	37	15	44876328	44876328	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:44876328delG	ENST00000261866.7	-	30	5566	c.5550delC	c.(5548-5550)aafs	p.N1850fs	SPG11_ENST00000535302.2_Frame_Shift_Del_p.N1850fs|SPG11_ENST00000427534.2_Frame_Shift_Del_p.N1850fs|SPG11_ENST00000558319.1_Frame_Shift_Del_p.N1850fs	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1850					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ATTTTGATGTGTTCAGAGCAG	0.413													41	70	---	---	---	---					
MAPK8IP3	23162	broad.mit.edu	37	16	1816383	1816383	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:1816383delC	ENST00000250894.4	+	22	2946	c.2789delC	c.(2788-2790)acfs	p.T930fs	MAPK8IP3_ENST00000356010.5_Frame_Shift_Del_p.T924fs	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	930					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAGCCCCGACCCCGTCCTCT	0.697													35	38	---	---	---	---					
LRRC37A4P	55073	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:43591984_43591985insG	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTGGGTCATGCGGAGCGAGTTT	0.411													5	10	---	---	---	---					
HPN-AS1	100128675	broad.mit.edu	37	19	35596767	35596769	+	RNA	DEL	CAT	CAT	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:35596767_35596769delCAT	ENST00000392227.2	-	0	76					NR_024562.1																						gccctaccaccatcatcatcatt	0.512													2	4	---	---	---	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:38948159_38948160delTG	ENST00000355481.4	+	17	1945_1946	c.1814_1815delTG	c.(1813-1815)cfs	p.L605fs	RYR1_ENST00000359596.3_Frame_Shift_Del_p.L605fs|RYR1_ENST00000360985.3_Frame_Shift_Del_p.L605fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													7	719	---	---	---	---					
ZNF347	84671	broad.mit.edu	37	19	53645627	53645627	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:53645627delA	ENST00000452676.2	-	5	883	c.457delT	c.(457-459)acfs	p.Y153fs	ZNF347_ENST00000334197.7_Frame_Shift_Del_p.Y152fs|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.Y153fs	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACTCCTTTGTAATTTCCTTCA	0.403													178	118	---	---	---	---					
MYT1	4661	broad.mit.edu	37	20	62839333	62839335	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:62839333_62839335delGAG	ENST00000536311.1	+	7	1148_1150	c.784_786delGAG	c.(784-786)del	p.E273del	MYT1_ENST00000328439.1_In_Frame_Del_p.E273del|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	273	Glu-rich.				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)					agaggaggacgaggaggaggagg	0.596													7	39	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													8	444	---	---	---	---					
MKL1	57591	broad.mit.edu	37	22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:40816887_40816889delTGC	ENST00000396617.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cac>ca	p.QH281del	MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del|MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.660			T	RBM15	acute megakaryocytic leukemia								7	176	---	---	---	---