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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CRB1	23418	broad.mit.edu	37	1	197313433	197313433	+	Silent	SNP	T	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:197313433T>C	uc001gtz.3	+	2	884	c.675T>C	c.(673-675)atT>atC	p.I225I	CRB1_uc010poz.2_Silent_p.I156I|CRB1_uc001gty.2_Silent_p.I225I|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.I225I|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	225	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATTGGAAATTGACGAATGTT	0.408000														131			41		0	0	0.003610	0	0
CHERP	10523	broad.mit.edu	37	19	16638908	16638908	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:16638908G>A	uc002nei.1	-	8	1362	c.1288C>T	c.(1288-1290)Cct>Tct	p.P430S	MED26_uc002nee.2_Intron|CHERP_uc010xpg.1_5'Flank	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	430	Pro-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TGGCCCCAAGGAGCCACGGGG	0.662000														59			13		0	0	0.001368	0	0
MYH11	4629	broad.mit.edu	37	16	15831463	15831463	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:15831463C>T	uc002ddx.3	-	25	3264	c.3157G>A	c.(3157-3159)Gaa>Aaa	p.E1053K	MYH11_uc002ddv.3_Missense_Mutation_p.E1053K|MYH11_uc002ddw.3_Missense_Mutation_p.E1046K|MYH11_uc002ddy.3_Missense_Mutation_p.E1046K|MYH11_uc010bvg.3_Missense_Mutation_p.E878K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1046					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTCTTCTCTTCCTTCTTTAGC	0.587000			T	CBFB	AML									34			18		0	0	0.006122	0	0
PRMT5	10419	broad.mit.edu	37	14	23393227	23393227	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:23393227G>A	uc001whm.1	-	11	1456	c.1365C>T	c.(1363-1365)caC>caT	p.H455H	PRMT5_uc001whl.1_Silent_p.H438H|PRMT5_uc010tnf.1_Silent_p.H349H|PRMT5_uc010tnh.1_Silent_p.H411H|PRMT5_uc010tng.1_Silent_p.H394H|PRMT5_uc001whn.1_Silent_p.H284H	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	455					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CTTTTAGGAAGTGCTGGGCTC	0.547000														168			34		0	0	0.003214	0	0
RAB42	115273	broad.mit.edu	37	1	28920589	28920589	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:28920589C>T	uc001bqv.3	+	1	634	c.617C>T	c.(616-618)tCc>tTc	p.S206F	RAB42_uc001bqu.3_Missense_Mutation_p.S93F|RAB42_uc021okd.1_Missense_Mutation_p.S93F	NM_001193532	NP_001180461	Q8N4Z0	RAB42_HUMAN	Homo sapiens RAB42, member RAS oncogene family (RAB42), transcript variant 1, mRNA.	93					small GTPase mediated signal transduction	membrane	GTP binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCCCAGGTCCCCCAGCAGG	0.607000														32			5		0	0	0.001168	0	0
IL17A	3605	broad.mit.edu	37	6	52052559	52052559	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:52052559G>A	uc003pak.1	+	1	231	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	62					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ATCCCAAAAGGTCCTCAGATT	0.443000														75			22		0	0	0.002299	0	0
F8	2157	broad.mit.edu	37	X	154157053	154157053	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:154157053C>T	uc004fmt.3	-	13	5183	c.5012G>A	c.(5011-5013)cGt>cAt	p.R1671H		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1671					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAGAGTAGTACGAGTTATTTC	0.408000														7			48		0	0	0.003610	0	0
OR52K1	390036	broad.mit.edu	37	11	4510460	4510460	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:4510460C>T	uc001lza.2	+	0	352	c.330C>T	c.(328-330)tcC>tcT	p.S110S		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F109L(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACTCCTTCTCCATCATGGAGT	0.527000														18			21		0	0	0.001523	0	0
UTP20	27340	broad.mit.edu	37	12	101767224	101767224	+	Silent	SNP	C	T	T	rs112278934	byFrequency	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:101767224C>T	uc001tia.1	+	52	7080	c.6924C>T	c.(6922-6924)gcC>gcT	p.A2308A		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2308					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AAATGATCGCCTATCTCTTTG	0.463000														30			25		0	0	0.001512	0	0
TAZ	6901	broad.mit.edu	37	X	153649022	153649022	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:153649022C>T	uc010nuy.3	+	8	737	c.737C>T	c.(736-738)cCc>cTc	p.P246L	TAZ_uc004fkx.3_Missense_Mutation_p.P242L|TAZ_uc004fky.3_Missense_Mutation_p.P228L|TAZ_uc004fkz.3_Non-coding_Transcript|TAZ_uc004fla.3_Missense_Mutation_p.P212L|TAZ_uc004flb.3_Missense_Mutation_p.P198L|TAZ_uc004flc.4_Missense_Mutation_p.P212L	NM_181312	NP_851829	Q16635	TAZ_HUMAN	Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	242					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATCGGGAAGCCCTTCAGTGCC	0.647000														9			23		0	0	0.001061	0	0
ZNF266	10781	broad.mit.edu	37	19	9524549	9524550	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9524549_9524550GG>AA	uc010dwq.3	-	8	2259_2260	c.1051_1052CC>TT	c.(1051-1053)ccc>TTc	p.P351F	ZNF266_uc002mll.3_Missense_Mutation_p.P351F|ZNF266_uc002mlm.3_Missense_Mutation_p.P351F|ZNF266_uc002mln.3_Missense_Mutation_p.P351F|ZNF266_uc002mlo.3_Missense_Mutation_p.P351F	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						ACATTTATAGGGTTTTATTCCA	0.411000														32			59		0	0	0.004672	0	0
MCPH1	79648	broad.mit.edu	37	8	6302683	6302683	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:6302683C>T	uc003wqi.3	+	7	1516	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	MCPH1_uc003wqh.3_Silent_p.T480T|MCPH1_uc011kwl.2_Silent_p.T432T	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	480						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CAGCAAAAACCATCTCCAGTC	0.443000														38			37		0	0	0.004878	0	0
COL12A1	1303	broad.mit.edu	37	6	75887636	75887636	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:75887636C>T	uc021zbv.1	-	10	2215	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.R727Q|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.R385Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	727	Fibronectin type-III 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTTAGGTTTCGAGGTGCTCC	0.294000														32			38		0	0	0.001485	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37419246	37419246	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:37419246G>C	uc021ppc.1	+	2	381	c.282G>C	c.(280-282)gaG>gaC	p.E94D	ANKRD30A_uc001iza.1_Missense_Mutation_p.E94D	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	150						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						TTTATAGTGAGATTTTGTCAG	0.403000														26			8		0	0	0.003080	0	0
AVEN	57099	broad.mit.edu	37	15	34168175	34168175	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:34168175C>T	uc001zhj.3	-	2	523	c.467G>A	c.(466-468)cGg>cAg	p.R156Q		NM_020371	NP_065104	Q9NQS1	AVEN_HUMAN	Homo sapiens apoptosis, caspase activation inhibitor (AVEN), mRNA.	156					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		CTCAGCAAACCGGAACTGTGA	0.408000														22			14		0	0	0.006122	0	0
MLL2	8085	broad.mit.edu	37	19	36223707	36223707	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:36223707C>T	uc021usv.1	+	27	6257	c.6257C>T	c.(6256-6258)tCg>tTg	p.S2086L	MLL2_uc021usu.1_Missense_Mutation_p.S900L	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	681					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ACGCCTCCTTCGGGGCCAGGA	0.672000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				13			4		0	0	0.000602	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883787	19883787	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:19883787G>A	uc010vav.2	-	1	690	c.459C>T	c.(457-459)ttC>ttT	p.F153F	GPRC5B_uc021tef.1_Silent_p.F119F|GPRC5B_uc002dgt.3_Silent_p.F127F	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	127										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGCCCCAGAGGAAGCGGCGGA	0.667000														20			11		0	0	0.001855	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16056311	16056311	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:16056311A>G	uc010obo.2	+	13	2322	c.2095A>G	c.(2095-2097)Aag>Gag	p.K699E		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	699					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GGCTTCTTTGAAGTCAGCCAT	0.547000														62			11		0	0	0.001368	0	0
LDB2	9079	broad.mit.edu	37	4	16760851	16760851	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:16760851G>A	uc003goz.3	-	1	481	c.165C>T	c.(163-165)gcC>gcT	p.A55A	LDB2_uc003gpa.3_Silent_p.A55A|LDB2_uc011bxh.2_Silent_p.A55A|LDB2_uc003gpb.3_Silent_p.A55A|LDB2_uc010iee.3_Silent_p.A55A	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	55							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AAAATTCAGTGGCAAAGGCGT	0.373000														26			22		0	0	0.002780	0	0
MYH1	4619	broad.mit.edu	37	17	10406157	10406157	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:10406157G>A	uc002gmo.3	-	23	3103	c.3009C>T	c.(3007-3009)ctC>ctT	p.L1003L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1003						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGGCCTCCTGGAGAGCCTTCT	0.498000														154			29		0	0	0.002836	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478943	14478943	+	RNA	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr18:14478943C>T	uc010xai.2	-	2		c.621G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		GCTGTAAATTCGTTACATTTA	0.363000														17			8		0	0	0.003080	0	0
NR2E1	7101	broad.mit.edu	37	6	108502054	108502054	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:108502054C>T	uc003psg.3	+	6	1538	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	261	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGAACAAGATCATATCTGAAA	0.373000														24			43		0	0	0.002222	0	0
SWAP70	23075	broad.mit.edu	37	11	9771499	9771499	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:9771499G>A	uc001mhw.3	+	11	1839	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E	SWAP70_uc001mhx.3_Silent_p.E522E	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA.	580						cytoplasm|lamellipodium|nucleus|plasma membrane	DNA binding|calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACTGGAAAGAGAAAAAGACCA	0.463000														38			45		0	0	0.002852	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300682	103300682	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:103300682C>T	uc002tca.3	+	4	1454	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	438						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R438L(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGGAGGACTTCGAGGTGCCAT	0.438000														51			53		0	0	0.003610	0	0
CDH15	1013	broad.mit.edu	37	16	89245928	89245928	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:89245928C>T	uc002fmt.3	+	1	224	c.147C>T	c.(145-147)atC>atT	p.I49I	CDH15_uc010cij.1_Silent_p.I49I	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	49					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.I52fs*38(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTGGGTCATCCCCCCGATCA	0.682000														48			31		0	0	0.003755	0	0
KPNA6	23633	broad.mit.edu	37	1	32636331	32636331	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:32636331C>T	uc010ogy.2	+	13	1489	c.1462C>T	c.(1462-1464)Cag>Tag	p.Q488*	KPNA6_uc001bug.3_Nonsense_Mutation_p.Q483*|KPNA6_uc001buh.3_Nonsense_Mutation_p.Q258*|KPNA6_uc010ogx.2_Nonsense_Mutation_p.Q480*	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	483					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGAGTTTCTCCAGAGCCACGA	0.468000														70			10		0	0	0.000673	0	0
IGSF22	283284	broad.mit.edu	37	11	18735421	18735421	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:18735421G>A	uc009yht.2	-	13	2263	c.2073C>T	c.(2071-2073)gcC>gcT	p.A691A	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	691	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GGTGCAGAGTGGCCGTGGCTG	0.637000														20			12		0	0	0.000978	0	0
UCP1	7350	broad.mit.edu	37	4	141484552	141484552	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:141484552C>T	uc011chj.2	-	2	522	c.446G>A	c.(445-447)gGa>gAa	p.G149E	UCP1_uc011chk.2_Missense_Mutation_p.G148E	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	149					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	p.G149*(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AGGTTTGATTCCGTGGAGATG	0.468000														63			18		0	0	0.001216	0	0
PITPNM2	57605	broad.mit.edu	37	12	123489905	123489905	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:123489905G>A	uc001uej.1	-	5	1033	c.834C>T	c.(832-834)gaC>gaT	p.D278D	PITPNM2_uc001uek.1_Silent_p.D278D|PITPNM2_uc009zxu.1_Silent_p.D278D	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	278					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	p.S277S(1)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAGAGGTCTGGTCCGAGACGG	0.617000														30			50		0	0	0.003610	0	0
SCN9A	6335	broad.mit.edu	37	2	167055770	167055770	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:167055770C>T	uc010fpl.3	-	26	5687	c.5346G>A	c.(5344-5346)gcG>gcA	p.A1782A	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1793						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAACTGGGTCGCATCGGGAT	0.448000														59			45		0	0	0.003214	0	0
DPP8	54878	broad.mit.edu	37	15	65756209	65756209	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:65756209A>C	uc002aov.3	-	14	3487	c.1909T>G	c.(1909-1911)Tct>Gct	p.S637A	DPP8_uc002aow.3_Missense_Mutation_p.S637A|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Missense_Mutation_p.S621A|DPP8_uc002aox.3_Missense_Mutation_p.S621A|DPP8_uc002aoy.3_Missense_Mutation_p.S637A|DPP8_uc002aoz.3_Missense_Mutation_p.S621A|DPP8_uc010bhj.3_Missense_Mutation_p.S637A|DPP8_uc010bhi.3_5'UTR|DPP8_uc010bhk.1_Missense_Mutation_p.S206A	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	637					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTTCAAAAGAGAAAATTTCT	0.398000														25			23		0	0	0.003330	0	0
USP21	27005	broad.mit.edu	37	1	161134339	161134339	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:161134339C>T	uc010pkc.2	+	10	1698	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	USP21_uc010pkd.2_Missense_Mutation_p.R441W|USP21_uc021pbv.1_5'Flank|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	441					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGACCGATGTCGGCAGAAAAC	0.408000														13			26		0	0	0.001061	0	0
C5orf46	389336	broad.mit.edu	37	5	147286010	147286010	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:147286010G>A	uc010jgp.3	-	0	92	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	C5orf46_uc003lou.3_Silent_p.L19L|C5orf46_uc003lov.4_Silent_p.L19L	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN	Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.	19						extracellular region				NS(1)|lung(1)|prostate(1)	3						TAGCAGGTCAGGAATAAGACA	0.453000														17			10		0	0	0.001368	0	0
DENND4B	9909	broad.mit.edu	37	1	153907303	153907303	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:153907303C>T	uc001fdd.1	-	17	3107	c.2706G>A	c.(2704-2706)caG>caA	p.Q902Q		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	902	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgctgctgttgctgct	0.642000														75			7		0	0	0.001984	0	0
BAZ2B	29994	broad.mit.edu	37	2	160241774	160241774	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:160241774A>G	uc002uao.3	-	22	3983	c.3578T>C	c.(3577-3579)cTt>cCt	p.L1193P	BAZ2B_uc002uap.3_Missense_Mutation_p.L1157P	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						ACTTTCAGTAAGCTCAGTTTG	0.443000														57			32		0	0	0.002096	0	0
GRM7	2917	broad.mit.edu	37	3	7494494	7494494	+	Splice_Site	SNP	G	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:7494494G>T	uc003bqm.2	+	6	1649	c.1375_splice	c.e6+1	p.G459_splice	GRM7_uc011ata.1_Splice_Site|GRM7_uc011atb.1_Splice_Site|GRM7_uc010hcf.2_Splice_Site|GRM7_uc011atc.1_Splice_Site|GRM7_uc010hcg.2_Splice_Site_p.G459_splice|GRM7_uc003bql.2_Splice_Site_p.G459_splice|GRM7_uc003bqn.1_Splice_Site_p.G42_splice|GRM7_uc010hch.1_Splice_Site	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	459					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TAATTTCAATGGTGAGTCTCC	0.383000														2			21		7.45023e-12	1.41727e-11	0.001523	1	0
GSS	2937	broad.mit.edu	37	20	33539633	33539633	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:33539633A>G	uc002xbg.3	-	1	103	c.23T>C	c.(22-24)cTc>cCc	p.L8P	GSS_uc010zuo.2_Missense_Mutation_p.L8P|GSS_uc010zup.2_5'UTR|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	8					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	ATCCTGCAAGAGGCTCCCCCA	0.597000														27			17		0	0	0.004990	0	0
ACOX3	8310	broad.mit.edu	37	4	8383290	8383290	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:8383290C>T	uc010idk.3	-	13	1727	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	ACOX3_uc003glc.4_Missense_Mutation_p.E528K|ACOX3_uc003gld.4_Missense_Mutation_p.E528K	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	528					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGATAAGTCTCTCGGAGCAGG	0.403000														26			40		0	0	0.001706	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137423	40137423	+	Silent	SNP	C	T	T	rs142752772	byFrequency	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:40137423C>T	uc021qgf.1	-	0	420	c.420G>A	c.(418-420)ccG>ccA	p.P140P	LRRC4C_uc001mxc.1_Silent_p.P136P|LRRC4C_uc001mxd.1_Silent_p.P136P|LRRC4C_uc001mxa.1_Silent_p.P140P|LRRC4C_uc001mxb.1_Silent_p.P136P	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	140					regulation of axonogenesis	integral to membrane	protein binding	p.P140P(2)		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)				AAGCTCCATTCGGGATGGTAG	0.423000														40			13		0	0	0.001368	0	0
UGT2B10	7365	broad.mit.edu	37	4	69696575	69696575	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:69696575G>A	uc003hee.3	+	5	1590	c.1565G>A	c.(1564-1566)gGa>gAa	p.G522E	UGT2B10_uc011cam.2_Missense_Mutation_p.G438E	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	522					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCTAGAAAAGGAAAGAAGGGA	0.383000														28			45		0	0	0.003214	0	0
NUP98	4928	broad.mit.edu	37	11	3797137	3797138	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:3797137_3797138GG>AA	uc001lyh.3	-	4	890_891	c.469_470CC>TT	c.(469-471)cct>TTt	p.P157F	NUP98_uc001lyi.3_Missense_Mutation_p.P157F|NUP98_uc001lyj.2_Missense_Mutation_p.P157F|NUP98_uc001lyk.2_Missense_Mutation_p.P157F|NUP98_uc010qxv.2_Missense_Mutation_p.P120F	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	157	Gly/Thr-rich.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTCCCAGTAGGAGCAGCTGTA	0.396000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									59			79		0	0	0.004672	0	0
GPR20	2843	broad.mit.edu	37	8	142367699	142367699	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:142367699G>A	uc022bby.1	-	0	325	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	GPR20_uc003ywf.3_Missense_Mutation_p.R109C	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	109						integral to plasma membrane	G-protein coupled receptor activity	p.T108T(1)|p.R109H(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ACAGCGAAGCGCGTGGGCAGG	0.617000														41			25		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179444752	179444752	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179444752C>T	uc021vsy.1	-	266	59783	c.59558G>A	c.(59557-59559)gGa>gAa	p.G19853E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G13548E|TTN_uc021vta.1_Missense_Mutation_p.G13481E|TTN_uc021vtb.1_Missense_Mutation_p.G13356E|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20780	Ig-like 110.						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)			GTAGGATTTTCCCTCCTCCAA	0.443000														83			45		0	0	0.002852	0	0
OR56B4	196335	broad.mit.edu	37	11	6129257	6129257	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:6129257C>T	uc010qzx.2	+	0	249	c.249C>T	c.(247-249)atC>atT	p.I83I		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACCACCATCATGCCCAAGA	0.493000														36			33		0	0	0.002445	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123409	140123409	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:140123409C>T	uc003etn.3	+	3	628	c.438C>T	c.(436-438)gtC>gtT	p.V146V	CLSTN2_uc003etm.2_Silent_p.V146V	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	146	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGGCCGTGGTCCATATACAGG	0.537000										HNSCC(16;0.037)				5			51		0	0	0.003610	0	0
KIAA0930	23313	broad.mit.edu	37	22	45593791	45593792	+	Silent	DNP	GG	AA	AA			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr22:45593791_45593792GG>AA	uc003bfv.1	-	7	1266_1267	c.1080_1081CC>TT	c.(1078-1083)tccctg>tcTTtg	p.360_361SL>SL	KIAA0930_uc003bfx.1_Silent_p.351_352SL>SL|KIAA0930_uc010gzw.1_Silent_p.203_204SL>SL|KIAA0930_uc003bfw.1_Silent_p.356_357SL>SL|KIAA0930_uc010gzx.2_Silent_p.333_334SL>SL	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	351							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GTGCCCGACAGGGACCGAGACC	0.609000														81			23		0	0	0.004672	0	0
OR5D14	219436	broad.mit.edu	37	11	55563503	55563503	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:55563503C>T	uc010rim.2	+	0	472	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P158H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CATGTTTGGCCCCTTGGTACT	0.493000														102			48		0	0	0.003610	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768105	31768106	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:31768105_31768106GG>AA	uc002nsy.4	-	1	2658_2659	c.2593_2594CC>TT	c.(2593-2595)cct>TTt	p.P865F		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	865					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GATGCTGGAAGGAGTGGAGGAT	0.545000														65			18		0	0	0.004672	0	0
SSX3	10214	broad.mit.edu	37	X	48214129	48214129	+	Missense_Mutation	SNP	T	C	C	rs113403735		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:48214129T>C	uc004djd.1	-	2	216	c.122A>G	c.(121-123)aAa>aGa	p.K41R	SSX3_uc004dje.3_Missense_Mutation_p.K41R|SSX3_uc010nic.3_Missense_Mutation_p.K41R	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	41	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						CTCCGAGACTTTCATCTTTTC	0.398000														9			57		0	0	0.003610	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42158988	42158988	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:42158988A>G	uc002xkn.1	+	2	259	c.128A>G	c.(127-129)aAt>aGt	p.N43S	L3MBTL1_uc010zwh.2_Missense_Mutation_p.N352S|L3MBTL1_uc002xkm.3_Missense_Mutation_p.N284S|L3MBTL1_uc010ggl.3_Missense_Mutation_p.N284S|L3MBTL1_uc002xkl.3_Missense_Mutation_p.N284S|L3MBTL1_uc002xko.3_5'Flank	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	284					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						TTCTGGGTCAATGCCAACTCC	0.557000														81			66		0	0	0.003610	0	0
GPSM3	63940	broad.mit.edu	37	6	32159178	32159178	+	Nonsense_Mutation	SNP	C	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:32159178C>A	uc003oay.4	-	3	850	c.448G>T	c.(448-450)Gag>Tag	p.E150*	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Nonsense_Mutation_p.E150*	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	150	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						GACCTTTGCTCCTCCATTCGA	0.647000														126			111		9.67539e-52	1.85969e-51	0.003610	1	0
TRPC6	7225	broad.mit.edu	37	11	101375213	101375213	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:101375213C>T	uc001pgk.4	-	1	912	c.487G>A	c.(487-489)Gat>Aat	p.D163N	TRPC6_uc009ywy.3_Missense_Mutation_p.D163N|TRPC6_uc009ywz.1_Missense_Mutation_p.D163N	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	163					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGCAAAGCATCCCCAACTCGA	0.463000														33			26		0	0	0.003330	0	0
THEMIS	387357	broad.mit.edu	37	6	128176299	128176299	+	Silent	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:128176299A>G	uc011ebt.2	-	1	275	c.126T>C	c.(124-126)tgT>tgC	p.C42C	THEMIS_uc010kfa.3_5'UTR|THEMIS_uc021zfa.1_Silent_p.C42C|THEMIS_uc010kfb.3_Silent_p.C7C	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	42	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus		p.C42F(1)		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						CTGTTGAAAAACAGCATTCAT	0.318000														5			14		0	0	0.002450	0	0
OR2T6	254879	broad.mit.edu	37	1	248550993	248550993	+	Silent	SNP	C	T	T	rs61736237	byFrequency	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:248550993C>T	uc001iei.1	+	0	84	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F27L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATTCTTTTTCGGTGTCATTT	0.438000														47			16		0	0	0.004007	0	0
CSPG5	10675	broad.mit.edu	37	3	47618694	47618694	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:47618694G>A	uc003crp.4	-	1	998	c.822C>T	c.(820-822)gaC>gaT	p.D274D	CSPG5_uc003crn.3_Silent_p.D136D|CSPG5_uc003cro.4_Silent_p.D274D|CSPG5_uc021wxh.1_Silent_p.D274D|CSPG5_uc021wxi.1_Silent_p.D136D|CSPG5_uc011bbb.2_Silent_p.D136D	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	274	Interaction with TNC and TNR (By similarity).				cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		cttcatccAAGTCATCATAAA	0.493000														1			11		0	0	0.000978	0	0
COL5A3	50509	broad.mit.edu	37	19	10079154	10079154	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:10079154C>T	uc002mmq.1	-	58	4307	c.4221G>A	c.(4219-4221)ttG>ttA	p.L1407L		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1407	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGAGACCGATCAATCCAATGT	0.582000														43			99		0	0	0.003610	0	0
ACBD6	84320	broad.mit.edu	37	1	180461443	180461443	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:180461443G>A	uc001gog.3	-	2	966	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	Homo sapiens acyl-CoA binding domain containing 6 (ACBD6), mRNA.	115	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						TAACTACTGCGATATATTCCT	0.358000														12			29		0	0	0.002836	0	0
C15orf2	23742	broad.mit.edu	37	15	24923342	24923342	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:24923342C>T	uc001ywo.3	+	0	2802	c.2328C>T	c.(2326-2328)gcC>gcT	p.A776A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	776					cell differentiation|multicellular organismal development|spermatogenesis			p.A776A(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AATTTGGGGCCCCTGATGGGC	0.552000														104			67		0	0	0.003610	0	0
SVEP1	79987	broad.mit.edu	37	9	113192706	113192706	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:113192706C>T	uc010mtz.3	-	32	5715	c.5378G>A	c.(5377-5379)gGa>gAa	p.G1793E	SVEP1_uc010mty.3_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1793	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCCGGATTTCCTGGAGCCTT	0.423000														2			20		0	0	0.001882	0	0
RGNEF	64283	broad.mit.edu	37	5	73144873	73144873	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:73144873C>T	uc010izf.3	+	12	1884	c.1708C>T	c.(1708-1710)Cgt>Tgt	p.R570C	RGNEF_uc011csq.2_Missense_Mutation_p.R570C|RGNEF_uc003kcy.1_Missense_Mutation_p.R570C|RGNEF_uc021yam.1_Missense_Mutation_p.R570C|RGNEF_uc011csr.2_Missense_Mutation_p.R257C	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	570					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		AGGAAAAACTCGTTTGGTGCG	0.343000														1			4		0	0	0.000602	0	0
ZNF646	9726	broad.mit.edu	37	16	31090737	31090737	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:31090737C>T	uc002eap.3	+	1	3381	c.3092C>T	c.(3091-3093)cCc>cTc	p.P1031L	ZNF646_uc021tgu.1_Missense_Mutation_p.P1031L	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1031					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GCAGGCACCCCCTTGGGAGAC	0.587000														96			50		0	0	0.003610	0	0
MED17	9440	broad.mit.edu	37	11	93528151	93528151	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:93528151C>T	uc001pem.4	+	5	1212	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	313					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R313Q(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACAGCTCTCTCGGGAAGCTGT	0.403000														55			66		0	0	0.003610	0	0
SLC12A5	57468	broad.mit.edu	37	20	44666019	44666019	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:44666019C>T	uc010zxl.1	+	5	752	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	SLC12A5_uc002xra.2_Silent_p.L203L|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.L203L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	226					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCGAAATCCTGCTGGTAAG	0.577000														25			18		0	0	0.006122	0	0
C11orf9	745	broad.mit.edu	37	11	61539203	61539203	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:61539203G>A	uc001nsc.1	+	5	1068	c.972G>A	c.(970-972)ccG>ccA	p.P324P	C11orf9_uc001nse.1_Silent_p.P315P	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	324	Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CTTGGCACCCGCCAGGTGCCC	0.697000														112			22		0	0	0.003330	0	0
ACBD4	79777	broad.mit.edu	37	17	43216450	43216450	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:43216450C>T	uc002iid.2	+	8	1046	c.702C>T	c.(700-702)ttC>ttT	p.F234F	ACBD4_uc010wjj.2_Silent_p.F250F|ACBD4_uc002iie.3_Silent_p.F250F|ACBD4_uc002iif.3_Nonsense_Mutation_p.R238*|ACBD4_uc002iic.3_Nonsense_Mutation_p.R238*|ACBD4_uc010dae.3_Silent_p.F172F	NM_001135707	NP_001129179	Q8NC06	ACBD4_HUMAN	Homo sapiens acyl-CoA binding domain containing 4 (ACBD4), transcript variant 5, mRNA.	234							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						GGGGACAGTTCGAGCACTACA	0.682000														21			51		0	0	0.003610	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958776	57958776	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:57958776C>T	uc010rka.2	+	0	871	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D271D(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CGAGGGAGACCGAGTGGTGTC	0.557000														82			41		0	0	0.003610	0	0
KIAA1407	57577	broad.mit.edu	37	3	113753789	113753789	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:113753789C>T	uc003eax.3	-	5	948	c.801G>A	c.(799-801)gtG>gtA	p.V267V	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Silent_p.V245V|KIAA1407_uc011bip.1_Silent_p.V254V	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	267										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATGCTGCTTTCACAGTGCGTC	0.448000														24			110		0	0	0.003610	0	0
RUSC2	9853	broad.mit.edu	37	9	35548090	35548090	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:35548090G>A	uc003zww.3	+	1	1827	c.1572G>A	c.(1570-1572)ttG>ttA	p.L524L	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Silent_p.L524L	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	524						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTGCGCTTGAGTGAGGGCC	0.667000														39			4		0	0	0.000602	0	0
BMS1	9790	broad.mit.edu	37	10	43293981	43293981	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:43293981A>G	uc001jaj.3	+	11	2513	c.2155A>G	c.(2155-2157)Aac>Gac	p.N719D		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	719					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTTCGTGTCAACCAGCCTGA	0.463000														16			83		0	0	0.003610	0	0
MED12L	116931	broad.mit.edu	37	3	151129185	151129185	+	Silent	SNP	A	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:151129185A>T	uc003eyp.3	+	38	6054	c.5925A>T	c.(5923-5925)gcA>gcT	p.A1975A	MED12L_uc011bnz.2_Intron	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1975	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCCGGCCGCACATTCCAACC	0.577000														6			105		0	0	0.003610	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67314416	67314416	+	Silent	SNP	T	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:67314416T>C	uc010cef.3	+	1	768	c.469T>C	c.(469-471)Tta>Cta	p.L157L	PLEKHG4_uc002eso.4_Silent_p.L157L|PLEKHG4_uc002esp.4_5'UTR|PLEKHG4_uc002esq.4_Silent_p.L157L|PLEKHG4_uc002esr.1_Intron|PLEKHG4_uc002ess.4_Silent_p.L157L|PLEKHG4_uc010ceg.3_Intron	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	157					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGAGACCCTTTATCAGAAAT	0.577000														72			33		0	0	0.003271	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713473	138713473	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:138713473C>T	uc004cgr.4	-	10	3034	c.3034G>A	c.(3034-3036)Ggg>Agg	p.G1012R	CAMSAP1_uc004cgq.4_Missense_Mutation_p.G902R|CAMSAP1_uc010nbg.3_Missense_Mutation_p.G734R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1012						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ACAACCTCCCCAACAGTGTCC	0.522000														9			24		0	0	0.003954	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401060	17401060	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:17401060C>T	uc011kye.2	+	1	380	c.332C>T	c.(331-333)tCc>tTc	p.S111F	SLC7A2_uc011kyc.2_Missense_Mutation_p.S71F|SLC7A2_uc011kyd.2_Missense_Mutation_p.S111F	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	71					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATCGTGGTGTCCTTCCTCATT	0.612000														27			20		0	0	0.001216	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420514	55420514	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:55420514G>A	uc001sgp.4	+	1	669	c.291G>A	c.(289-291)cgG>cgA	p.R97R	NEUROD4_uc021qyr.1_Silent_p.R97R	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	97					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R97W(1)		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						CCAGAGAACGGACCCGGATGC	0.498000														55			11		0	0	0.000673	0	0
ANK2	287	broad.mit.edu	37	4	114294463	114294463	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:114294463G>A	uc003ibe.4	+	44	11817	c.11717G>A	c.(11716-11718)cGg>cAg	p.R3906Q	ANK2_uc003ibd.4_Missense_Mutation_p.R1812Q|ANK2_uc003ibf.4_Missense_Mutation_p.R1821Q|ANK2_uc011cgc.2_Missense_Mutation_p.R997Q|ANK2_uc003ibg.4_Missense_Mutation_p.R836Q|ANK2_uc003ibh.4_Missense_Mutation_p.R526Q|ANK2_uc010ims.3_5'UTR|ANK2_uc010imr.3_5'UTR	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3873					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R3906Q(4)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCATTAGGCGGTATGTATCC	0.388000														49			10		0	0	0.000673	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717680	142717680	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:142717680C>T	uc022cfm.1	-	0	1245	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	SLITRK4_uc022cfl.1_Silent_p.V415V|SLITRK4_uc004fbx.3_Silent_p.V415V|SLITRK4_uc004fby.3_Silent_p.V415V	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	415						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)					CTCCCTTAATCACTGTAATTT	0.393000														7			53		0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	40827885	40827886	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:40827885_40827886CC>TT	uc002xkg.3	-	15	2669_2670	c.2485_2486GG>AA	c.(2485-2487)gga>AAa	p.G829K	PTPRT_uc010ggj.3_Missense_Mutation_p.G848K|PTPRT_uc010ggi.3_Missense_Mutation_p.G32K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	829					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)				CTTACTGAATCCGTTGACGTCC	0.564000														340			231		0	0	0.004672	0	0
NEBL	10529	broad.mit.edu	37	10	21185923	21185923	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:21185923C>T	uc001iqi.3	-	1	514	c.117G>A	c.(115-117)atG>atA	p.M39I	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	39					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						TGGCCAATTCCATGCTTAAGT	0.333000														25			116		0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94128596	94128596	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:94128596C>T	uc011cdt.2	+	4	1035	c.777C>T	c.(775-777)atC>atT	p.I259I	GRID2_uc010ikx.3_Silent_p.I259I|GRID2_uc011cdu.2_Silent_p.I164I|GRID2_uc011cdv.1_Non-coding_Transcript|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	259					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTCACTGGATCATTATAAATG	0.328000														70			12		0	0	0.001368	0	0
OR10H2	26538	broad.mit.edu	37	19	15839113	15839113	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:15839113C>T	uc002nbm.2	+	0	280	c.260C>T	c.(259-261)tCc>tTc	p.S87F		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GACCTGCTGTCCACCCAGCGC	0.612000														59			11		0	0	0.002450	0	0
ZNF491	126069	broad.mit.edu	37	19	11917544	11917544	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:11917544G>A	uc002mso.1	+	2	1061	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	ZNF491_uc021upj.1_Missense_Mutation_p.R259Q	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ATAAGCTTTCGAAGACACATG	0.408000														46			5		0	0	0.000602	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801739	185801739	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:185801739G>A	uc002uph.3	+	3	2210	c.1616G>A	c.(1615-1617)gGa>gAa	p.G539E		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	539						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGTGATTCTGGAAAAAATGAG	0.343000														26			21		0	0	0.001523	0	0
RPUSD4	84881	broad.mit.edu	37	11	126073509	126073509	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:126073509G>A	uc001qde.3	-	6	992	c.938C>T	c.(937-939)tCg>tTg	p.S313L	RPUSD4_uc010sbl.2_Missense_Mutation_p.S120L|RPUSD4_uc009zbz.3_Missense_Mutation_p.S282L	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	313					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		GCGGGCCTTCGACTGTTCTAG	0.577000														42			18		0	0	0.001216	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					26			68		0	0	0.003610	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127455	226127455	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:226127455C>T	uc001hpt.2	-	2	740	c.497_splice	c.e2+1	p.R166_splice	LEFTY2_uc010pvk.2_Splice_Site_p.R132_splice|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	166					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCGACCCCCACCTGGAGTCGA	0.781000														10			11		0	0	0.000673	0	0
OR7G3	390883	broad.mit.edu	37	19	9237431	9237431	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9237431G>A	uc010xkl.2	-	0	196	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						ACCAAGGACAGGATAGAGAGG	0.552000														41			74		0	0	0.003610	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	T	T	rs408579	by1000genomes	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:39274416C>T	uc002hvz.3	-	0	191	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)|p.R51K(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000														74			4		0	0	0.001984	0	0
OR6C74	254783	broad.mit.edu	37	12	55641850	55641850	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:55641850C>T	uc010spg.2	+	0	779	c.779C>T	c.(778-780)cCc>cTc	p.P260L		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K259R(1)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TATGTGAAACCCTCAGCAAAA	0.403000														31			38		0	0	0.001287	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450147	105450147	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:105450147C>T	uc022cca.1	+	0	722	c.722C>T	c.(721-723)tCa>tTa	p.S241L	MUM1L1_uc004emg.2_Missense_Mutation_p.S241L|MUM1L1_uc004emf.2_Missense_Mutation_p.S241L	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	241										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCACCTTTGTCACCTTTGTCA	0.428000														0			19		0	0	0.001216	0	0
DBF4	10926	broad.mit.edu	37	7	87516704	87516704	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:87516704C>T	uc003ujf.1	+	4	1015	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	DBF4_uc003ujh.1_5'UTR|DBF4_uc003ujg.1_5'UTR|DBF4_uc011khf.1_5'UTR	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	171	BRCT 2.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding	p.L170I(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AAAAATTCTTCATATTGATGG	0.279000														8			18		0	0	0.002299	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170412	90170412	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:90170412C>T	uc003hsm.1	-	1	1369	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	GPRIN3_uc021xqb.1_Missense_Mutation_p.V284M	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	284								p.V284M(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GGCAGCGGCACCTTCTCTGGA	0.567000														101			26		0	0	0.001061	0	0
abParts	0	broad.mit.edu	37	14	106780678	106780678	+	RNA	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:106780678C>T	uc021ser.1	-	655		c.18016G>A								Parts of antibodies, mostly variable regions.																		CCAGTCCCTTCCCTGGGGGCT	0.562000														116			22		0	0	0.001882	0	0
CKAP2L	150468	broad.mit.edu	37	2	113496483	113496484	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:113496483_113496484CT>TC	uc002tie.2	-	8	2233_2234	c.2154_2155AG>GA	c.(2152-2157)ttagaa>ttGAaa	p.E719K	CKAP2L_uc002tif.2_Missense_Mutation_p.E308K|CKAP2L_uc010yxp.1_Missense_Mutation_p.E554K|NT5DC4_uc002tid.3_Intron	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	719						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TCTTCCACTTCTAACAGTTCAT	0.441000														84			49		0	0	0.004672	0	0
RP1	6101	broad.mit.edu	37	8	55539794	55539794	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:55539794C>T	uc003xsd.1	+	3	3500	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1118					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTCCCTTTCATTCTGCAAT	0.423000														28			16		0	0	0.003163	0	0
SHOC2	8036	broad.mit.edu	37	10	112724208	112724208	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:112724208C>T	uc001kzl.4	+	1	441	c.92C>T	c.(91-93)tCt>tTt	p.S31F	SHOC2_uc009xxx.3_Missense_Mutation_p.S31F|SHOC2_uc010qrg.2_Intron|SHOC2_uc001kzn.3_Missense_Mutation_p.S31F	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	Homo sapiens soc-2 suppressor of clear homolog (C. elegans) (SHOC2), mRNA.	31					Ras protein signal transduction|fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GCAAAAGCCTCTGGAGGTTTT	0.438000														14			58		0	0	0.003610	0	0
INPPL1	3636	broad.mit.edu	37	11	71941854	71941854	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:71941854C>T	uc001osf.3	+	10	1359	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	INPPL1_uc001osg.3_Silent_p.F162F	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	404					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GGGAGGCCTTCTGCCAGCTGT	0.617000														20			15		0	0	0.003163	0	0
CYP21A2	1589	broad.mit.edu	37	6	32008470	32008470	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:32008470G>A	uc003nze.2	+	8	1251	c.1144G>A	c.(1144-1146)Ggc>Agc	p.G382S	CYP21A2_uc003nzf.2_Missense_Mutation_p.G352S	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	381					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						CATCCCTGAGGGCACAGTCAT	0.642000														69			7		0	0	0.005443	0	0
SLFN11	91607	broad.mit.edu	37	17	33680383	33680383	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:33680383C>T	uc002hjg.4	-	3	2141	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	SLFN11_uc010ctr.3_Missense_Mutation_p.E632K|SLFN11_uc010ctp.3_Missense_Mutation_p.E632K|SLFN11_uc010ctq.3_Missense_Mutation_p.E632K|SLFN11_uc002hjh.4_Missense_Mutation_p.E632K	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	632						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCTGGTTTTCACAAACGTAG	0.428000														44			10		0	0	0.004007	0	0
DNAH12	201625	broad.mit.edu	37	3	57509322	57509322	+	Missense_Mutation	SNP	C	T	T	rs34762664		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:57509322C>T	uc003dit.2	-	3	448	c.267G>A	c.(265-267)atG>atA	p.M89I	DNAH12_uc003diu.2_Missense_Mutation_p.M89I	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	89	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CTTTTTTTTTCATTTCACTGG	0.249000														3			25		0	0	0.002096	0	0
MAT2A	4144	broad.mit.edu	37	2	85769831	85769831	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:85769831C>T	uc002spr.3	+	6	1222	c.912C>T	c.(910-912)tcC>tcT	p.S304S	MAT2A_uc010ysr.2_Silent_p.S304S|MAT2A_uc010fgl.2_Silent_p.S241S	NM_005911	NP_005902	P31153	METK2_HUMAN	Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA.	304					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGGCAAAATCCCTTGTTAAAG	0.468000														22			27		0	0	0.005443	0	0
SEMA6D	80031	broad.mit.edu	37	15	48052082	48052082	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:48052082C>T	uc010bek.3	+	1	447	c.87C>T	c.(85-87)ccC>ccT	p.P29P	SEMA6D_uc001zvw.3_Silent_p.P29P|SEMA6D_uc001zvx.1_Silent_p.P29P|SEMA6D_uc001zvy.3_Silent_p.P29P|SEMA6D_uc001zvz.3_Silent_p.P29P|SEMA6D_uc001zwa.3_Silent_p.P29P|SEMA6D_uc001zwb.3_Silent_p.P29P|SEMA6D_uc001zwc.3_Silent_p.P29P	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	29	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGATGAACCCCTTAATACTG	0.448000														49			25		0	0	0.001061	0	0
OPCML	4978	broad.mit.edu	37	11	132306020	132306020	+	Silent	SNP	C	T	T	rs150470513		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:132306020C>T	uc010sck.2	-	5	947	c.897G>A	c.(895-897)acG>acA	p.T299T	OPCML_uc001qgu.3_Silent_p.T292T|OPCML_uc001qgs.3_Silent_p.T299T|OPCML_uc001qgt.3_Silent_p.T298T|OPCML_uc010scl.2_Silent_p.T258T	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	299	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAAGCTTGTTCGTGGCCACAC	0.488000														25			33		0	0	0.003755	0	0
FOXR1	283150	broad.mit.edu	37	11	118850239	118850239	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:118850239C>T	uc001pui.3	+	3	697	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	FOXR1_uc001puj.3_Non-coding_Transcript|FOXR1_uc001puk.3_Intron	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN	Homo sapiens forkhead box R1 (FOXR1), mRNA.	158					embryo development|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|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			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCTCCAGAGTCGGAGGCTTCG	0.602000														51			34		0	0	0.002445	0	0
DGKZ	8525	broad.mit.edu	37	11	46400584	46400584	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:46400584A>G	uc001ncn.1	+	28	3151	c.3026A>G	c.(3025-3027)gAc>gGc	p.D1009G	DGKZ_uc001nch.2_Missense_Mutation_p.D837G|DGKZ_uc010rgq.2_3'UTR|DGKZ_uc010rgr.2_Missense_Mutation_p.D825G|DGKZ_uc001ncj.2_Missense_Mutation_p.D787G|DGKZ_uc001nck.2_Missense_Mutation_p.D599G|DGKZ_uc001ncm.2_Missense_Mutation_p.D820G|DGKZ_uc001ncl.2_Missense_Mutation_p.D821G|DGKZ_uc009yky.1_Missense_Mutation_p.D821G|DGKZ_uc010rgs.1_Missense_Mutation_p.D798G|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.3_5'Flank|MDK_uc001ncp.3_5'Flank|MDK_uc009yla.3_5'Flank|MDK_uc009ylb.3_5'Flank|MDK_uc001ncq.3_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	1009					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ATGCACCGAGACGAGCAGAGT	0.682000														7			10		0	0	0.000443	0	0
SERPINA1	5265	broad.mit.edu	37	14	94844815	94844815	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:94844815C>T	uc001ycy.4	-	6	1782	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.G410R|SERPINA1_uc010auy.3_Missense_Mutation_p.G410R|SERPINA1_uc001ycz.4_Missense_Mutation_p.G410R|SERPINA1_uc010auz.3_Missense_Mutation_p.G410R|SERPINA1_uc010ava.3_Missense_Mutation_p.G410R|SERPINA1_uc001ydb.4_Missense_Mutation_p.G410R|SERPINA1_uc010avb.3_Missense_Mutation_p.G410R|SERPINA1_uc001ydc.4_Missense_Mutation_p.G410R|SERPINA1_uc010auw.3_Missense_Mutation_p.G410R|SERPINA1_uc010aux.3_Missense_Mutation_p.G410R	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	410				G -> L (in Ref. 24; AA sequence).	acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	ACCACTTTTCCCATGAAGAGG	0.493000														49			78		0	0	0.003610	0	0
CFHR1	3078	broad.mit.edu	37	1	196749096	196749096	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:196749096C>T	uc001gtl.3	+	2	510	c.423C>T	c.(421-423)atC>atT	p.I141I	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Silent_p.I141I|CFHR1_uc010poy.2_Silent_p.I141I|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	141	Sushi 2.				complement activation	extracellular space		p.I141I(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CCAGATGCATCCGTGTCAGTA	0.483000														26			24		0	0	0.001061	0	0
FAAH2	158584	broad.mit.edu	37	X	57405106	57405106	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:57405106G>A	uc004dvc.3	+	5	914	c.765G>A	c.(763-765)caG>caA	p.Q255Q		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	255						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ACAAAGGTCAGTTTCCCTTGG	0.493000										HNSCC(52;0.14)				7			41		0	0	0.002522	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679106	37679106	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:37679106G>A	uc001uwm.1	-	0	696	c.288C>T	c.(286-288)agC>agT	p.S96S		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	96	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GGTCTTCGAGGCTGGGTCCCA	0.453000														57			20		0	0	0.001216	0	0
ZCCHC3	85364	broad.mit.edu	37	20	279331	279331	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:279331G>A	uc002wdf.3	+	0	1128	c.1104G>A	c.(1102-1104)cgG>cgA	p.R368R		NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	Homo sapiens zinc finger, CCHC domain containing 3 (ZCCHC3), mRNA.	368							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTTACTGCCGGAAGGGCATCG	0.617000														42			48		0	0	0.003610	0	0
OR6C1	390321	broad.mit.edu	37	12	55714592	55714592	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:55714592C>T	uc010spi.2	+	0	209	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378000														20			26		0	0	0.003330	0	0
ATP9A	10079	broad.mit.edu	37	20	50286579	50286579	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:50286579G>A	uc002xwg.1	-	12	1250	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	ATP9A_uc010gih.1_Missense_Mutation_p.S281L|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	417					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTCGTCCATTGAGTCGAGGCC	0.438000														73			52		0	0	0.003610	0	0
DACT1	51339	broad.mit.edu	37	14	59113645	59113645	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:59113645G>A	uc001xdw.3	+	3	2468	c.2304G>A	c.(2302-2304)ggG>ggA	p.G768G	DACT1_uc010trv.2_Silent_p.G487G|DACT1_uc001xdx.3_Silent_p.G731G|DACT1_uc010trw.2_Silent_p.G487G	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	768					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGTTCGTGGGGGAGAGCACAA	0.582000														33			51		0	0	0.003610	0	0
MTUS2	23281	broad.mit.edu	37	13	29599560	29599560	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:29599560G>A	uc001usl.4	+	0	813	c.755G>A	c.(754-756)cGt>cAt	p.R252H		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	242						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGAGTGTGCGTCATCCTAAA	0.562000														10			15		0	0	0.003163	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013358	142013358	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:142013358G>A	uc003vxg.3	+	1	242	c.213G>A	c.(211-213)gaG>gaA	p.E71E	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		ACAGCTATGAGAAACTCTCTA	0.463000														57			100		0	0	0.003610	0	0
RGS18	64407	broad.mit.edu	37	1	192153620	192153620	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:192153620G>A	uc001gsg.3	+	4	820	c.644G>A	c.(643-645)cGa>cAa	p.R215Q		NM_130782	NP_570138	Q9NS28	RGS18_HUMAN	Homo sapiens regulator of G-protein signaling 18 (RGS18), mRNA.	215					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R214G(1)		kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTAGGAGACGATCACGCTCA	0.358000														27			8		0	0	0.003080	0	0
PSG4	5672	broad.mit.edu	37	19	43698609	43698609	+	Missense_Mutation	SNP	C	T	T	rs150596916	by1000genomes	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:43698609C>T	uc002ovy.3	-	4	1228	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Missense_Mutation_p.G283R|PSG4_uc002owb.3_Missense_Mutation_p.G283R	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				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)				AGCTTTTGTCCTGATAGCTGA	0.458000														71			160		0	0	0.003610	0	0
EYA1	2138	broad.mit.edu	37	8	72229851	72229851	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:72229851G>A	uc003xyu.3	-	6	1132	c.492C>T	c.(490-492)ctC>ctT	p.L164L	EYA1_uc003xyt.4_Silent_p.L131L|EYA1_uc003xyr.4_Silent_p.L159L|EYA1_uc010lzf.3_Silent_p.L91L|EYA1_uc003xys.4_Silent_p.L164L|EYA1_uc011lfe.2_Silent_p.L158L|EYA1_uc003xyv.3_Silent_p.L42L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	164					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGCCATAGCTGAGAAATCCTG	0.463000														112			62		0	0	0.003610	0	0
C10orf137	26098	broad.mit.edu	37	10	127414358	127414358	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:127414358C>T	uc001liq.1	+	5	1036	c.743C>T	c.(742-744)cCc>cTc	p.P248L	C10orf137_uc001lin.3_Missense_Mutation_p.P248L|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Missense_Mutation_p.P248L	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGGCCTGCTCCCTTCGAAATG	0.478000														5			47		0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34209041	34209041	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:34209041G>A	uc001bxm.1	-	13	2190	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	CSMD2_uc001bxn.1_Silent_p.F631F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	631	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)				TGATGACCAGGAAATCAAACT	0.617000														72			22		0	0	0.002780	0	0
RBM48	84060	broad.mit.edu	37	7	92161833	92161833	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:92161833G>A	uc003uma.3	+	2	459	c.418G>A	c.(418-420)Gca>Aca	p.A140T	RBM48_uc011khu.1_Missense_Mutation_p.A140T|RBM48_uc003ulz.3_Missense_Mutation_p.A140T			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	140							nucleotide binding										AATGCGGAAGGCATATGTAGT	0.393000														45			8		0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179396515	179396515	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179396515G>A	uc021vsy.1	-	306	97348	c.97123C>T	c.(97123-97125)Cga>Tga	p.R32375*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R26070*|TTN_uc021vta.1_Nonsense_Mutation_p.R26003*|TTN_uc021vtb.1_Nonsense_Mutation_p.R25878*|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33302	Protein kinase.						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)			AGTGTGATTCGAGGGGCATGG	0.438000														41			29		0	0	0.001271	0	0
TTN	7273	broad.mit.edu	37	2	179475004	179475004	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179475004G>A	uc021vsy.1	-	219	43770	c.43545C>T	c.(43543-43545)gtC>gtT	p.V14515V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V8210V|TTN_uc021vta.1_Silent_p.V8143V|TTN_uc021vtb.1_Silent_p.V8018V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15442	Fibronectin type-III 5.						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)			TGCGCTCCAGGACATAATGAA	0.418000														109			77		0	0	0.003610	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643639	94643639	+	Silent	SNP	G	C	C	rs34014249		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:94643639G>C	uc001dqj.4	-	20	2934	c.2565C>G	c.(2563-2565)ccC>ccG	p.P855P	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.P421P	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	855	Rho-GAP.				Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.P855P(2)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAGCAGTTGTGGGCCTTGGCC	0.443000														16			56		0	0	0.003610	0	0
ELOVL4	6785	broad.mit.edu	37	6	80635910	80635910	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:80635910C>T	uc003pja.4	-	2	607	c.288_splice	c.e2+1	p.E96_splice	ELOVL4_uc011dyt.2_Intron	NM_022726	NP_073563	Q9GZR5	ELOV4_HUMAN	Homo sapiens ELOVL fatty acid elongase 4 (ELOVL4), mRNA.	96					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TAAAAACATACCTCTCTGAAG	0.318000														12			6		0	0	0.001168	0	0
LTN1	26046	broad.mit.edu	37	21	30339415	30339415	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:30339415G>A	uc002ymr.2	-	9	1549	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	466							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TGGCTTCCCAGGAACTTAGAG	0.413000														88			39		0	0	0.004878	0	0
KDM5A	5927	broad.mit.edu	37	12	432368	432368	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:432368G>A	uc001qif.1	-	15	2518	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	KDM5A_uc010sdn.1_Missense_Mutation_p.R678C	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	719					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AATGGGTAGCGATATCTACaa	0.318000			T	NUP98	AML									23			6		0	0	0.001168	0	0
LPCAT2	54947	broad.mit.edu	37	16	55616943	55616943	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:55616943C>T	uc002eie.4	+	13	1749	c.1568C>T	c.(1567-1569)tCc>tTc	p.S523F	LPCAT2_uc002eic.3_Missense_Mutation_p.S253F	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	523					cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						ACAACCCCCTCCACCGCCAGT	0.418000														35			18		0	0	0.004990	0	0
SETD1A	9739	broad.mit.edu	37	16	30976574	30976574	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:30976574C>T	uc002ead.1	+	6	2197	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	504	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TCCAAGTTTTCCTTCTTGGCC	0.602000														45			28		0	0	0.001786	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77327117	77327117	+	Silent	SNP	T	C	C	rs150608248		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:77327117T>C	uc002ffc.4	-	19	3464	c.3045A>G	c.(3043-3045)gaA>gaG	p.E1015E	ADAMTS18_uc010chc.1_Silent_p.E603E	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1015	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCAGAGGAGTTCACGCTTCC	0.527000														61			36		0	0	0.001287	0	0
ZNF300	91975	broad.mit.edu	37	5	150275613	150275613	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:150275613C>T	uc021yfx.1	-	6	1664	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	ZNF300_uc021yfy.1_Silent_p.L396L|ZNF300_uc021yfz.1_Silent_p.L360L	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGTATAATCAGCTGTGACT	0.443000														30			27		0	0	0.001061	0	0
abParts	0	broad.mit.edu	37	14	106405666	106405666	+	RNA	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:106405666G>A	uc021ser.1	-	3033		c.50126C>T								Parts of antibodies, mostly variable regions.																		CAGCTGCAGGGAGAACTGGTT	0.493000														43			101		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179454707	179454707	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179454707G>A	uc021vsy.1	-	252	54266	c.54041C>T	c.(54040-54042)aCc>aTc	p.T18014I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T11709I|TTN_uc021vta.1_Missense_Mutation_p.T11642I|TTN_uc021vtb.1_Missense_Mutation_p.T11517I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18941	Fibronectin type-III 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCTCTTTGGTTACATTGGT	0.433000														30			25		0	0	0.003954	0	0
PDE1B	5153	broad.mit.edu	37	12	54966496	54966496	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:54966496C>T	uc001sgd.2	+	6	1099	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	PDE1B_uc010soz.2_Missense_Mutation_p.H99Y|PDE1B_uc010spa.1_Missense_Mutation_p.H195Y|PDE1B_uc001sge.3_Missense_Mutation_p.H216Y|PDE1B_uc001sgf.3_Missense_Mutation_p.H99Y|PDE1B_uc009znq.3_Missense_Mutation_p.H32Y	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	236	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCAGACAGTCCATTGCTTCTT	0.507000														98			147		0	0	0.003610	0	0
CAPSL	133690	broad.mit.edu	37	5	35921135	35921135	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:35921135G>A	uc003jjt.1	-	1	183	c.88C>T	c.(88-90)Cga>Tga	p.R30*	CAPSL_uc003jju.1_Nonsense_Mutation_p.R30*	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	30						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CACTGCAGTCGGAGTCTTTCA	0.607000														36			22		0	0	0.001523	0	0
SACS	26278	broad.mit.edu	37	13	23910492	23910492	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:23910492C>T	uc001uon.2	-	9	8112	c.7523G>A	c.(7522-7524)aGa>aAa	p.R2508K	SACS_uc001uoo.2_Missense_Mutation_p.R2361K|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2508					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGATGCATATCTTTCTAAGGC	0.393000														81			18		0	0	0.001523	0	0
HSPB2	3316	broad.mit.edu	37	11	111784565	111784566	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:111784565_111784566CC>TT	uc001pmg.2	+	1	589_590	c.495_496CC>TT	c.(493-498)ctccct>ctTTct	p.P166S	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_Non-coding_Transcript|C11orf52_uc001pmh.3_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	Homo sapiens heat shock 27kDa protein 2 (HSPB2), mRNA.	166					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TCTCCCTGCTCCCTGCGCCTCC	0.574000														30			19		0	0	0.004672	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518267	113518267	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:113518267G>A	uc010ljy.1	-	3	2911	c.2880C>T	c.(2878-2880)atC>atT	p.I960I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	960					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAATACCCTGGATTTCTCTTG	0.388000														29			64		0	0	0.003610	0	0
TNP2	7142	broad.mit.edu	37	16	11362754	11362754	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:11362754G>A	uc002das.3	-	0	407	c.366C>T	c.(364-366)atC>atT	p.I122I	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	122					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						ACACCTGCTGGATCCTCTTGG	0.562000														26			20		0	0	0.001882	0	0
SFTPB	6439	broad.mit.edu	37	2	85892780	85892780	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:85892780G>A	uc002sqj.3	-	5	667	c.567C>T	c.(565-567)gtC>gtT	p.V189V	SFTPB_uc002sqi.3_Silent_p.V189V|SFTPB_uc002sqh.3_Silent_p.V189V	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	177					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.V177V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GCACAGGGAGGACGAGCTTGT	0.667000														48			41		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41447075	41447075	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:41447075G>A	uc002yyq.1	-	26	5229	c.4777C>T	c.(4777-4779)Ctc>Ttc	p.L1593F	DSCAM_uc002yyr.1_Intron	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1593					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			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)				AGCATCTTGAGCCCCTCGTTG	0.542000														22			27		0	0	0.001061	0	0
FAM196A	642938	broad.mit.edu	37	10	128973855	128973855	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:128973855C>T	uc001lju.1	-	0	846	c.805G>A	c.(805-807)Ggt>Agt	p.G269S	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.G269S|FAM196A_uc001ljv.1_Missense_Mutation_p.G269S|FAM196A_uc009yap.1_Missense_Mutation_p.G269S	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	269										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGACAAACCAGGCTCGGGG	0.647000														35			7		0	0	0.003080	0	0
RYR1	6261	broad.mit.edu	37	19	39013913	39013913	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:39013913C>T	uc002oit.3	+	68	10534	c.10404C>T	c.(10402-10404)tcC>tcT	p.S3468S	RYR1_uc002oiu.3_Silent_p.S3468S|RYR1_uc002oiv.1_Silent_p.S388S|RYR1_uc010xuf.1_Silent_p.S388S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3468					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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)	ACAACATGTCCTTCCTGACTG	0.552000														29			114		0	0	0.003610	0	0
OR51A7	119687	broad.mit.edu	37	11	4928635	4928635	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:4928635C>T	uc010qyq.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCAAGCTTTTCCTTCTGATTG	0.458000														40			20		0	0	0.001882	0	0
SDK2	54549	broad.mit.edu	37	17	71419607	71419607	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:71419607C>T	uc010dfm.3	-	13	1815	c.1815G>A	c.(1813-1815)agG>agA	p.R605R	SDK2_uc010dfn.2_Silent_p.R284R	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	605	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGATGGCTCGCCTTTCCACGG	0.597000														39			4		0	0	0.000248	0	0
MST1P2	11209	broad.mit.edu	37	1	16975268	16975268	+	RNA	SNP	T	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:16975268T>C	uc010och.2	+	7		c.1637T>C			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CCAGCCGCCATCAATCCTGGA	0.582000														59			7		0	0	0.000443	0	0
DSCAM	1826	broad.mit.edu	37	21	41450723	41450723	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:41450723G>A	uc002yyq.1	-	25	5054	c.4602C>T	c.(4600-4602)atC>atT	p.I1534I	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1534	Fibronectin type-III 6.				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			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)				GGTCATACAGGATGTAGGACT	0.582000														26			29		0	0	0.001786	0	0
FAM40B	57464	broad.mit.edu	37	7	129098202	129098202	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:129098202C>T	uc011koy.2	+	9	1225	c.1185C>T	c.(1183-1185)gaC>gaT	p.D395D	FAM40B_uc003vow.3_Silent_p.D395D|FAM40B_uc011koz.2_5'UTR	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	395										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TAGAGCAGGACCCTCTGGTGC	0.597000														13			16		0	0	0.004007	0	0
EXD2	55218	broad.mit.edu	37	14	69704552	69704552	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:69704552A>T	uc001xky.3	+	8	1799	c.1553A>T	c.(1552-1554)cAg>cTg	p.Q518L	EXD2_uc001xkt.3_Missense_Mutation_p.Q393L|EXD2_uc001xkv.3_Missense_Mutation_p.Q518L|EXD2_uc001xkw.3_Missense_Mutation_p.Q393L|EXD2_uc001xku.3_Missense_Mutation_p.Q263L|EXD2_uc001xkx.3_Missense_Mutation_p.Q393L|EXD2_uc010aqt.3_Missense_Mutation_p.Q518L|EXD2_uc010tte.2_Missense_Mutation_p.Q518L	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	393					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CTGCCTACTCAGCGAAAGGAG	0.607000														12			25		0	0	0.004656	0	0
ZNF713	349075	broad.mit.edu	37	7	56006850	56006850	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:56006850G>A	uc003tra.2	+	6	1290	c.483G>A	c.(481-483)aaG>aaA	p.K161K	ZNF713_uc003trc.1_Silent_p.K148K	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAAACCACAAGAGATATTTAG	0.408000														28			6		0	0	0.001168	0	0
BBS9	27241	broad.mit.edu	37	7	33392474	33392474	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:33392474G>A	uc003tdn.1	+	14	2054	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	BBS9_uc003tdo.1_Missense_Mutation_p.R479Q|BBS9_uc003tdp.1_Intron|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Missense_Mutation_p.R38Q|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Missense_Mutation_p.R392Q	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	514					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGGACAGATCGAAATCCTGAT	0.323000									Bardet-Biedl syndrome					27			12		0	0	0.002450	0	0
C12orf50	160419	broad.mit.edu	37	12	88376883	88376883	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:88376883G>A	uc001tam.1	-	11	1384	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S		NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	406										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TAGTTACCTGGATATATCTTT	0.289000														24			46		0	0	0.003214	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412884	19412884	+	RNA	SNP	T	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:19412884T>C	uc010tcj.1	-	0		c.33226A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCAATATCTGTCTTCAAAATG	0.269000														103			4		0	0	0.003080	0	0
MCF2	4168	broad.mit.edu	37	X	138708441	138708441	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:138708441C>T	uc011mwn.1	-	8	1039	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	MCF2_uc004fav.3_Missense_Mutation_p.E200K|MCF2_uc004fau.3_Missense_Mutation_p.E200K|MCF2_uc010nsh.2_Missense_Mutation_p.E200K|MCF2_uc011mwm.2_Missense_Mutation_p.E161K|MCF2_uc011mwl.2_Missense_Mutation_p.E161K|MCF2_uc011mwo.1_Missense_Mutation_p.E260K|MCF2_uc004faw.2_Missense_Mutation_p.E260K	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	200					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding	p.L345I(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AAAGCTGTTTCCATATCATGT	0.343000														7			33		0	0	0.004289	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142526862	142526862	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:142526862T>C	uc011dbj.2	+	19	1939	c.1904T>C	c.(1903-1905)cTt>cCt	p.L635P	ARHGAP26_uc003lmt.3_Missense_Mutation_p.L635P|ARHGAP26_uc003lmw.3_Missense_Mutation_p.L635P	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	635	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACAGCATCCTTAATTCCAGC	0.483000														38			21		0	0	0.001216	0	0
MLL	4297	broad.mit.edu	37	11	118372446	118372446	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:118372446C>T	uc001pta.3	+	25	6393	c.6370C>T	c.(6370-6372)Cga>Tga	p.R2124*	MLL_uc001ptb.3_Nonsense_Mutation_p.R2127*	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2124					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ATCACCAGACCGACCTCCTCA	0.428000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									70			34		0	0	0.004878	0	0
MUC17	140453	broad.mit.edu	37	7	100686664	100686664	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:100686664G>A	uc003uxp.1	+	2	12020	c.11967G>A	c.(11965-11967)aaG>aaA	p.K3989K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3989						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.K3989N(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTACTAAGGAATTTACAA	0.478000														110			27		0	0	0.002445	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346810	140346810	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:140346810C>T	uc003lii.3	+	0	1064	c.459C>T	c.(457-459)taC>taT	p.Y153Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.Y153Y	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	153	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCCAACTACCAGCTTCAGG	0.612000														30			17		0	0	0.000958	0	0
MAP3K10	4294	broad.mit.edu	37	19	40715123	40715123	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:40715123C>T	uc002ona.3	+	5	1837	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	517					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAGGGCCATTCGCCGTGAGTA	0.557000														78			11		0	0	0.000673	0	0
OR6C4	341418	broad.mit.edu	37	12	55945095	55945095	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:55945095C>T	uc010spp.2	+	0	85	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ATTCATCTTTCTGTTCCTCAC	0.428000														37			67		0	0	0.003610	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015416	21015416	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:21015416G>A	uc010sil.2	+	4	617	c.552G>A	c.(550-552)ggG>ggA	p.G184G	SLCO1B3_uc001rek.3_Silent_p.G184G|SLCO1B3_uc001rel.3_Silent_p.G184G|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	184					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GTGGCATAGGGGAAACCCCCA	0.373000														61			21		0	0	0.002780	0	0
CSMD1	64478	broad.mit.edu	37	8	2813184	2813184	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:2813184G>A	uc022aqr.1	-	63	10311	c.9921C>T	c.(9919-9921)ttC>ttT	p.F3307F	CSMD1_uc011kwj.2_Silent_p.F2637F|CSMD1_uc010lrg.3_Silent_p.F1199F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3308	Sushi 28.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCCTGCGAGGAAAAAGCCTG	0.507000														42			37		0	0	0.004289	0	0
RPL2B	0	broad.mit.edu	37	16	436886	436886	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:436886A>G	uc002cgx.3	+	0	224	c.196A>G	c.(196-198)Acg>Gcg	p.T66A	LOC100134368_uc002cgw.1_Intron					SubName: Full=Putative uncharacterized protein;																		GAAGACCCGCACGTCACTCAC	0.567000														52			10		0	0	0.000673	0	0
CISH	1154	broad.mit.edu	37	3	50645938	50645938	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:50645938G>A	uc010hlq.3	-	2	445	c.158C>T	c.(157-159)cCc>cTc	p.P53L	CISH_uc003dax.3_Missense_Mutation_p.P36L	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	36					intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGCAGGCAAGGGCTGCATGAC	0.657000														5			26		0	0	0.004656	0	0
OR8B3	390271	broad.mit.edu	37	11	124266550	124266550	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:124266550C>T	uc010saj.2	-	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 3 (OR8B3), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TTTTGATCTTCCTTGAGTGGA	0.373000														56			75		0	0	0.003610	0	0
COL7A1	1294	broad.mit.edu	37	3	48622503	48622503	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:48622503C>T	uc003ctz.2	-	31	3942	c.3941G>A	c.(3940-3942)gGg>gAg	p.G1314E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1314	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCAGGATTCCCGGCGCGGCC	0.682000														9			42		0	0	0.003610	0	0
BCMO1	53630	broad.mit.edu	37	16	81314522	81314522	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:81314522G>A	uc002fgn.1	+	7	1380	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	BCMO1_uc010vnp.1_Missense_Mutation_p.E319K	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	388					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GGCCCTGAAGGAAGAAGATGG	0.413000														9			11		0	0	0.000978	0	0
CEP97	79598	broad.mit.edu	37	3	101483760	101483760	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:101483760C>T	uc003dvk.1	+	10	1990	c.1963C>T	c.(1963-1965)Cct>Tct	p.P655S	CEP97_uc011bhf.1_Missense_Mutation_p.P596S|CEP97_uc003dvl.1_Missense_Mutation_p.P377S|CEP97_uc003dvm.1_Missense_Mutation_p.P493S	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	655	CEP110 binding.					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						TGATGTTCCTCCTATATCAAG	0.408000														11			58		0	0	0.003610	0	0
LAMA1	284217	broad.mit.edu	37	18	7080389	7080389	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr18:7080389C>T	uc002knm.3	-	1	223	c.129G>A	c.(127-129)gaG>gaA	p.E43E	LAMA1_uc010wzj.2_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	43	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G42R(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCGGCCCCTTCTCGCCACAGG	0.547000														45			8		0	0	0.003080	0	0
COL11A1	1301	broad.mit.edu	37	1	103348859	103348859	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:103348859A>G	uc001dum.3	-	63	5221	c.4903T>C	c.(4903-4905)Tgg>Cgg	p.W1635R	COL11A1_uc001duk.3_Missense_Mutation_p.W819R|COL11A1_uc001dul.3_Missense_Mutation_p.W1623R|COL11A1_uc001dun.3_Missense_Mutation_p.W1584R|COL11A1_uc009weh.3_Missense_Mutation_p.W1507R	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1623	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGATCAATCCAATATTCACCT	0.323000														8			35		0	0	0.004878	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178821885	178821885	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:178821885C>T	uc001gma.3	-	4	1697	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Silent_p.G407G	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	407	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCATAGAATCCCCTGCATTTC	0.393000														56			13		0	0	0.001855	0	0
COL3A1	1281	broad.mit.edu	37	2	189850417	189850417	+	Silent	SNP	T	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:189850417T>C	uc002uqj.1	+	3	477	c.360T>C	c.(358-360)aaT>aaC	p.N120N		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	120					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGGGAGAAATGGTGACCCTG	0.438000														27			22		0	0	0.001523	0	0
ATAD2	29028	broad.mit.edu	37	8	124359340	124359340	+	Nonsense_Mutation	SNP	A	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:124359340A>T	uc003yqh.4	-	15	2312	c.2204T>A	c.(2203-2205)tTa>tAa	p.L735*	ATAD2_uc011lii.2_Nonsense_Mutation_p.L526*|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Nonsense_Mutation_p.L735*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ACCTGAGTCTAATGTTTTATT	0.318000														50			17		0	0	0.004990	0	0
ZFHX3	463	broad.mit.edu	37	16	72923658	72923658	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:72923658G>A	uc002fck.3	-	3	4093	c.3420C>T	c.(3418-3420)acC>acT	p.T1140T	ZFHX3_uc002fcl.3_Silent_p.T226T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1140					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)				ACCTGCGGATGGTGAAGATCT	0.642000														20			14		0	0	0.004990	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140983	143140983	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:143140983C>T	uc011ktg.2	+	0	438	c.438C>T	c.(436-438)ttC>ttT	p.F146F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	146					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGATGCTCTTCAGCTCTGTAG	0.453000														148			33		0	0	0.002096	0	0
HYDIN	54768	broad.mit.edu	37	16	70954741	70954741	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:70954741C>T	uc002ezr.3	-	45	7686	c.7535G>A	c.(7534-7536)aGa>aAa	p.R2512K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2513										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)				caggcgctctctctcccGGTC	0.711000														9			7		0	0	0.001984	0	0
OBSL1	23363	broad.mit.edu	37	2	220424197	220424197	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:220424197G>A	uc010fwk.3	-	8	3290	c.2976C>T	c.(2974-2976)taC>taT	p.Y992Y	OBSL1_uc002vmh.1_5'UTR|OBSL1_uc010zli.1_5'UTR|OBSL1_uc010fwl.2_Silent_p.Y992Y	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	992	Ig-like 8.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CATCGCGAGGGTATATGATCC	0.592000											OREG0003986	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		55			38		0	0	0.001706	0	0
ATP7B	540	broad.mit.edu	37	13	52548946	52548946	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:52548946G>A	uc001vfw.2	-	1	567	c.410C>T	c.(409-411)tCc>tTc	p.S137F	ATP7B_uc001vfy.2_Missense_Mutation_p.S137F|ATP7B_uc010adv.2_Missense_Mutation_p.S137F|ATP7B_uc001vfx.2_Missense_Mutation_p.S137F|ATP7B_uc010tgt.1_Missense_Mutation_p.S137F|ATP7B_uc010tgu.1_Missense_Mutation_p.S137F|ATP7B_uc010tgv.1_Missense_Mutation_p.S137F|ATP7B_uc010tgw.1_Missense_Mutation_p.S105F	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	137					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GGCAGGCAAGGACCTTGAGGG	0.592000									Wilson disease					15			40		0	0	0.001485	0	0
CAD	790	broad.mit.edu	37	2	27455482	27455482	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:27455482C>T	uc002rji.3	+	17	2974	c.2812C>T	c.(2812-2814)Ctt>Ttt	p.L938F	CAD_uc010eyw.3_Missense_Mutation_p.L875F	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	938	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGTCCTAGTCCTTGGCTCTGG	0.512000														48			36		0	0	0.005524	0	0
MUC16	94025	broad.mit.edu	37	19	9047181	9047181	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9047181C>T	uc002mkp.3	-	4	34654	c.34450G>A	c.(34450-34452)Gaa>Aaa	p.E11484K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11486	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						GTCTCTGGTTCATATGGGGTC	0.507000														44			92		0	0	0.003610	0	0
FTMT	94033	broad.mit.edu	37	5	121187736	121187736	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:121187736C>T	uc003kss.3	+	0	87	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	26					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GCTGCTGCTTCGCGCTCCCGC	0.741000														14			10		0	0	0.000443	0	0
GALNT5	11227	broad.mit.edu	37	2	158115636	158115636	+	Missense_Mutation	SNP	C	T	T	rs144689586		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:158115636C>T	uc002tzg.3	+	0	1297	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	348					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P348S(2)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AACAATATTTCCTAAAGTATT	0.393000														40			40		0	0	0.001706	0	0
SCARA5	286133	broad.mit.edu	37	8	27729502	27729502	+	Silent	SNP	C	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:27729502C>A	uc003xgj.3	-	8	2048	c.1437G>T	c.(1435-1437)gtG>gtT	p.V479V	SCARA5_uc010luz.3_Silent_p.V254V	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	479	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CACAGTTTGTCACCCCCCATT	0.577000														39			27		2.12542e-12	4.05363e-12	0.001061	1	0
OR1M1	125963	broad.mit.edu	37	19	9204331	9204331	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9204331C>T	uc010xkj.2	+	0	411	c.411C>T	c.(409-411)agC>agT	p.S137S		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGATCATGAGCCTACGCCTCT	0.567000														38			88		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140248752	140248752	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:140248752G>A	uc003lia.2	+	0	922	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.E22K	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	35					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCCTCGAATTCTGGGA	0.577000														56			60		0	0	0.003610	0	0
IKZF1	10320	broad.mit.edu	37	7	50467675	50467675	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:50467675G>A	uc003tow.4	+	7	1065	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	IKZF1_uc022acq.1_Missense_Mutation_p.E161K|IKZF1_uc003tpa.4_Missense_Mutation_p.E69K|IKZF1_uc022acr.1_Missense_Mutation_p.E79K|IKZF1_uc022acs.1_Missense_Mutation_p.E34K|IKZF1_uc022act.1_Missense_Mutation_p.E207K|IKZF1_uc022acu.1_Missense_Mutation_p.E217K|IKZF1_uc003tox.4_Missense_Mutation_p.E262K|IKZF1_uc022acv.1_Missense_Mutation_p.E165K|IKZF1_uc022acw.1_Missense_Mutation_p.E175K|IKZF1_uc022acx.1_Missense_Mutation_p.E217K|IKZF1_uc022acy.1_Missense_Mutation_p.E111K|IKZF1_uc022acz.1_Missense_Mutation_p.E121K|IKZF1_uc011kck.2_Missense_Mutation_p.E217K|IKZF1_uc003toy.4_Missense_Mutation_p.E262K|IKZF1_uc003toz.4_Missense_Mutation_p.E274K|IKZF1_uc010kyx.3_Missense_Mutation_p.E44K	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	304					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAGGAGAACGAAATGATGAA	0.652000			"""D,T"""	BCL6	"""ALL, DLBCL"""									5			10		0	0	0.000978	0	0
LGSN	51557	broad.mit.edu	37	6	63990205	63990205	+	Nonsense_Mutation	SNP	G	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:63990205G>C	uc003peh.3	-	3	1285	c.1251C>G	c.(1249-1251)taC>taG	p.Y417*	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	417					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CCAGCACCAAGTAAGGGTTTG	0.458000														51			17		0	0	0.004990	0	0
UTRN	7402	broad.mit.edu	37	6	144780342	144780342	+	Silent	SNP	C	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:144780342C>A	uc003qkt.3	+	19	2651	c.2559C>A	c.(2557-2559)ccC>ccA	p.P853P	UTRN_uc010khq.1_Silent_p.P853P	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	853	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCTTCACCCCAAAATTGAAA	0.507000														18			24		9.57634e-11	1.80318e-10	0.003330	1	0
CSMD2	114784	broad.mit.edu	37	1	34046481	34046481	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:34046481G>A	uc001bxm.1	-	47	7436	c.7259C>T	c.(7258-7260)cCt>cTt	p.P2420L	CSMD2_uc001bxn.1_Missense_Mutation_p.P2422L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2422	CUB 14.					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)				TTTCAGCAGAGGACTCTGTCC	0.557000														11			22		0	0	0.003330	0	0
UGT1A1	54658	broad.mit.edu	37	2	234681148	234681148	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:234681148G>A	uc002vuw.3	+	4	1548	c.1548G>A	c.(1546-1548)cgG>cgA	p.R516R	UGT1A1_uc002vup.3_Silent_p.R512R|UGT1A1_uc002vur.3_Silent_p.R512R|UGT1A1_uc002vus.3_Silent_p.R512R|UGT1A1_uc002vut.3_Silent_p.R512R|UGT1A1_uc002vuu.3_Silent_p.R247R|UGT1A1_uc002vuv.4_Silent_p.R514R|UGT1A1_uc002vux.3_Silent_p.R516R|UGT1A1_uc002vuy.3_Silent_p.R516R|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Silent_p.R515R	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	515					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ATGGCTACCGGAAATGCTTGG	0.468000														23			26		0	0	0.004656	0	0
TMEM132B	114795	broad.mit.edu	37	12	126068397	126068397	+	Splice_Site	SNP	G	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:126068397G>C	uc001uhe.1	+	5	1287	c.1279_splice	c.e5-1	p.D427_splice	TMEM132B_uc021rgl.1_Splice_Site_p.D317_splice	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	427						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCCTGTTTAGGACACCGAGGT	0.547000														208			9		0	0	0.000443	0	0
FMNL3	91010	broad.mit.edu	37	12	50062307	50062308	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:50062307_50062308GG>AA	uc001ruv.1	-	1	390_391	c.156_157CC>TT	c.(154-159)gcccgg>gcTTgg	p.R53W	FMNL3_uc001ruw.1_Missense_Mutation_p.R53W	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	53	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CGCAGGAGCCGGGCCTTGTCTG	0.535000														62			17		0	0	0.004672	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570154	47570154	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:47570154C>T	uc002pga.4	-	14	3409	c.3371G>A	c.(3370-3372)cGc>cAc	p.R1124H	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	1124							nucleic acid binding|zinc ion binding	p.P1123L(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CGCCAGCACGCGGGGGTCGTA	0.746000														24			4		0	0	0.000602	0	0
KRT20	54474	broad.mit.edu	37	17	39036510	39036510	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:39036510C>T	uc002hvl.3	-	3	692	c.634G>A	c.(634-636)Gtc>Atc	p.V212I		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	212	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				AGGCCATCGACTTCCTATGAA	0.443000														83			13		0	0	0.002450	0	0
ADAM7	8756	broad.mit.edu	37	8	24300064	24300064	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:24300064G>A	uc003xeb.3	+	1	244	c.131G>A	c.(130-132)gGa>gAa	p.G44E	ADAM7_uc003xea.1_Missense_Mutation_p.G44E	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	44					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CGAGATACTGGACACACCCAT	0.413000														122			31		0	0	0.001786	0	0
FAT1	2195	broad.mit.edu	37	4	187557862	187557862	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:187557862G>A	uc003izf.3	-	4	4037	c.3849C>T	c.(3847-3849)ccC>ccT	p.P1283P		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1283	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTCTGCATTGGGGCCCTCAT	0.507000										HNSCC(5;0.00058)				92			150		0	0	0.003610	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141493	143141493	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:143141493G>A	uc011ktg.2	+	0	948	c.948G>A	c.(946-948)ggG>ggA	p.G316G	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	316					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					CAAGGTGTGGGACACCTTGAG	0.483000														112			16		0	0	0.006122	0	0
ASPM	259266	broad.mit.edu	37	1	197093279	197093279	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:197093279C>T	uc001gtu.3	-	12	3608	c.3351G>A	c.(3349-3351)atG>atA	p.M1117I	ASPM_uc001gtv.3_Missense_Mutation_p.M1117I|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1117	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACCCAATCCATCAATAACT	0.284000														54			7		0	0	0.003080	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955425	18955425	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:18955425C>T	uc001mpg.3	-	0	1125	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	303					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTCCACCTTCATCCACCTCA	0.552000														55			31		0	0	0.001512	0	0
LILRB1	10859	broad.mit.edu	37	19	55143640	55143640	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:55143640C>T	uc002qgj.3	+	5	953	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.P205S|LILRB1_uc002qgk.3_Missense_Mutation_p.P205S|LILRB1_uc002qgm.3_Missense_Mutation_p.P205S|LILRB1_uc010erq.3_Missense_Mutation_p.P205S|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	205	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P205T(4)|p.P205L(1)|p.P205P(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)		CTCGAACTCTCCCTATGAGTG	0.607000										HNSCC(37;0.09)				41			110		0	0	0.003610	0	0
OR10J5	127385	broad.mit.edu	37	1	159505705	159505705	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:159505705G>A	uc010piw.2	-	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AGACAGTTAGGAAAACCACAA	0.378000														31			41		0	0	0.001485	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634966	70634966	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:70634966G>A	uc001xly.3	-	1	928	c.174C>T	c.(172-174)gtC>gtT	p.V58V	SLC8A3_uc001xlw.3_Silent_p.V58V|SLC8A3_uc001xlx.3_Silent_p.V58V|SLC8A3_uc001xlz.3_Silent_p.V58V|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	58					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G57C(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGGCAGGATGACACCCTCCT	0.547000														15			24		0	0	0.001061	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503929	140503929	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:140503929G>A	uc003lip.1	+	0	2349	c.2349G>A	c.(2347-2349)aaG>aaA	p.K783K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGAAGTTAAGGAAAACCCCA	0.448000														45			22		0	0	0.003954	0	0
AADACL3	126767	broad.mit.edu	37	1	12785954	12785954	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:12785954G>A	uc009vnn.1	+	3	1277	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	AADACL3_uc001aug.1_Silent_p.K278K	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	348							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)		AATTTGTAAAGGGACTGTGAC	0.493000														31			11		0	0	0.001368	0	0
ANLN	54443	broad.mit.edu	37	7	36450695	36450695	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:36450695C>T	uc003tff.3	+	6	1519	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	ANLN_uc011kaz.2_Missense_Mutation_p.R351C|ANLN_uc003tfg.3_Missense_Mutation_p.R439C|ANLN_uc010kxe.3_Missense_Mutation_p.R439C	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	439	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AGCATGTCTTCGTGGCCGATT	0.368000														37			7		0	0	0.000443	0	0
DSCAM	1826	broad.mit.edu	37	21	41725626	41725626	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:41725626G>A	uc002yyq.1	-	4	1152	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	234	Ig-like C2-type 3.				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			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)				ATGGCTTTGCGATGGTCAAAC	0.537000														17			21		0	0	0.002299	0	0
MGAM	8972	broad.mit.edu	37	7	141754553	141754553	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:141754553G>A	uc003vwy.3	+	27	3214	c.3160_splice	c.e27-1	p.I1054_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1054					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)	CTCTGGCCTAGATTTATGATC	0.428000														59			118		0	0	0.003610	0	0
GRM3	2913	broad.mit.edu	37	7	86469140	86469140	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:86469140C>T	uc003uid.3	+	3	3409	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.F642F|GRM3_uc010leh.3_Silent_p.F362F	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	770					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAGCTAAGTTCATAGGTTTTA	0.423000														30			50		0	0	0.003610	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453942	84453942	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:84453942C>T	uc001vlk.3	-	0	2587	c.1701G>A	c.(1699-1701)aaG>aaA	p.K567K		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	567	LRRCT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCATGAAATCCTTTCTAAAGA	0.527000														35			7		0	0	0.001984	0	0
OR51E2	81285	broad.mit.edu	37	11	4703277	4703277	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:4703277C>T	uc001lzk.2	-	1	909	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	OR51E2_uc021qcr.1_Missense_Mutation_p.R222Q	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	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														42			38		0	0	0.004878	0	0
INSR	3643	broad.mit.edu	37	19	7119574	7119574	+	Missense_Mutation	SNP	C	A	A	rs121913140		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:7119574C>A	uc002mgd.1	-	20	3789	c.3680G>T	c.(3679-3681)tGg>tTg	p.W1227L	INSR_uc002mge.1_Missense_Mutation_p.W1215L	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1227	Protein kinase.		W -> S (in IRAN type A).		G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGATTTCCCAAAGGACCAC	0.502000														309			8		0.00448238	0.00835507	0.004482	1	0
FAM47C	442444	broad.mit.edu	37	X	37026916	37026916	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:37026916C>T	uc004ddl.2	+	0	485	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	145										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCCTCCAGATCTCCTACTACA	0.577000														11			36		0	0	0.003755	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6521677	6521677	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:6521677G>A	uc001anh.3	-	9	1186	c.1098C>T	c.(1096-1098)cgC>cgT	p.R366R	TNFRSF25_uc001ana.3_Silent_p.R174R|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Silent_p.R130R|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Silent_p.R357R|TNFRSF25_uc001anf.3_Silent_p.R320R|TNFRSF25_uc001ang.3_Silent_p.R312R	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	357	Death.				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		TCTCTGCCTCGCGCAGCCCCA	0.701000														25			5		0	0	0.001984	0	0
AKAP3	10566	broad.mit.edu	37	12	4737278	4737278	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:4737278C>T	uc001qnb.4	-	3	1034	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	264					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						CTCTTTCTCTCCCGAGGAAAG	0.443000														54			12		0	0	0.000978	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:55417934G>A	uc002qib.2	+	2	162	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_uc002qic.2_Missense_Mutation_p.E42K|NCR1_uc002qie.2_Missense_Mutation_p.E42K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTTCCAAAGGAAAAGCAAGT	0.547000														43			82		0	0	0.003610	0	0
TRPV4	59341	broad.mit.edu	37	12	110240830	110240830	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:110240830G>A	uc001tpj.2	-	2	773	c.678C>T	c.(676-678)ttC>ttT	p.F226F	TRPV4_uc001tpg.2_Silent_p.F192F|TRPV4_uc021rdp.1_Silent_p.F226F|TRPV4_uc001tph.2_Silent_p.F226F|TRPV4_uc001tpi.2_Silent_p.F226F|TRPV4_uc001tpk.2_Silent_p.F226F	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	226					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCGAGTTAATGAACTCCCTCA	0.627000														12			24		0	0	0.002780	0	0
C17orf39	79018	broad.mit.edu	37	17	17957494	17957494	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:17957494C>T	uc002gsg.1	+	2	720	c.552C>T	c.(550-552)caC>caT	p.H184H		NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.	184								p.H184P(1)		large_intestine(2)|lung(1)|ovary(2)|skin(1)	6	all_neural(463;0.228)					GCAAAAAACACCCTTTCTTAA	0.413000														53			8		0	0	0.004482	0	0
ALMS1	7840	broad.mit.edu	37	2	73717740	73717740	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:73717740G>C	uc002sje.1	+	9	8762	c.8651G>C	c.(8650-8652)cGa>cCa	p.R2884P	ALMS1_uc002sjf.1_Missense_Mutation_p.R2842P|ALMS1_uc002sjg.3_Missense_Mutation_p.R2272P|ALMS1_uc002sjh.1_Missense_Mutation_p.R2272P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2884					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTTGAACAACGAGAGCTCTTT	0.438000														69			41		0	0	0.002522	0	0
OR4M2	390538	broad.mit.edu	37	15	22368906	22368906	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:22368906G>A	uc010tzu.2	+	0	429	c.331G>A	c.(331-333)Gag>Aag	p.E111K	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGGGCTTCGGAGATGTTCTT	0.468000														358			61		0	0	0.003610	0	0
VPS54	51542	broad.mit.edu	37	2	64189210	64189210	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:64189210T>C	uc002scq.3	-	6	1155	c.992A>G	c.(991-993)cAg>cGg	p.Q331R	VPS54_uc002scp.3_Missense_Mutation_p.Q319R|VPS54_uc010fct.3_Missense_Mutation_p.Q214R	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	331					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						GTGAATGCCCTGAAGTTCCTG	0.358000														81			48		0	0	0.003610	0	0
C2orf49	79074	broad.mit.edu	37	2	105959566	105959566	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:105959566C>T	uc002tcs.1	+	2	560	c.528C>T	c.(526-528)gaC>gaT	p.D176D	C2orf49_uc010fjd.1_Silent_p.D134D	NM_024093	NP_076998	Q9BVC5	ASHWN_HUMAN	Homo sapiens chromosome 2 open reading frame 49 (C2orf49), mRNA.	176						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						AGAACCATGACTTAACGCATA	0.428000														23			28		0	0	0.001061	0	0
RFX6	222546	broad.mit.edu	37	6	117237424	117237424	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:117237424G>A	uc003pxm.3	+	8	982	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	307					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCCCCTGCTCGAAAATCCTGT	0.343000														36			49		0	0	0.003610	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761165	121761165	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:121761165G>A	uc003ksw.1	+	4	1327	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.G374E|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.G421E|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.G68E|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	374					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCTTTGATGGGAGAAGACTGC	0.493000														51			32		0	0	0.003755	0	0
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:94030836C>A	uc003kkr.4	+	20	3076	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_uc003kks.3_Missense_Mutation_p.T363N	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	999										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348000														42			7		9.70103e-10	1.82202e-09	0.000673	1	0
OC90	729330	broad.mit.edu	37	8	133045342	133045342	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:133045342G>A	uc003ytg.2	-	9	803	c.803C>T	c.(802-804)tCt>tTt	p.S268F	OC90_uc011lix.1_Missense_Mutation_p.S268F	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	284					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAGCCCCAGAGATTTAATGCC	0.453000														11			5		0	0	0.000602	0	0
DDO	8528	broad.mit.edu	37	6	110714493	110714493	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:110714493C>T	uc003puc.3	-	4	599	c.595G>A	c.(595-597)Gaa>Aaa	p.E199K	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Missense_Mutation_p.E140K	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	171					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		GGATGAAGTTCCCACAGGTCT	0.498000														47			48		0	0	0.003610	0	0
ZFPL1	7542	broad.mit.edu	37	11	64854200	64854200	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:64854200G>A	uc001ocq.1	+	4	582	c.417G>A	c.(415-417)gaG>gaA	p.E139E	CDCA5_uc001ocp.2_5'Flank	NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	139					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AGATCGATGAGGTGGTGAGCC	0.562000														52			35		0	0	0.004878	0	0
FIBIN	387758	broad.mit.edu	37	11	27016325	27016325	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:27016325C>T	uc001mrd.3	+	0	698	c.252C>T	c.(250-252)ttC>ttT	p.F84F		NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN	Homo sapiens fin bud initiation factor homolog (zebrafish) (FIBIN), mRNA.	84						Golgi apparatus|extracellular region				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						GGGAGGAGTTCACCGTGCTGG	0.647000														17			9		0	0	0.004482	0	0
PLCB4	5332	broad.mit.edu	37	20	9417698	9417698	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:9417698G>A	uc021wam.1	+	25	2642	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	PLCB4_uc010gbw.1_Missense_Mutation_p.G876E|PLCB4_uc010gbx.3_Missense_Mutation_p.G888E|PLCB4_uc021wal.1_Missense_Mutation_p.G876E|PLCB4_uc002wnh.3_Missense_Mutation_p.G723E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	876					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACAAGAAAGGAAAGGCCAAC	0.498000														24			12		0	0	0.001368	0	0
C20orf132	140699	broad.mit.edu	37	20	35769577	35769577	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:35769577G>A	uc010zvu.2	-	12	1567	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	C20orf132_uc002xgk.3_Intron|C20orf132_uc002xgm.2_Silent_p.S492S|C20orf132_uc002xgn.2_Silent_p.S457S	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	377										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TCTCAAATTGGGACTCTGTAT	0.418000														26			17		0	0	0.004990	0	0
GPR158	57512	broad.mit.edu	37	10	25886921	25886921	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:25886921G>A	uc001isj.3	+	10	2426	c.2366G>A	c.(2365-2367)aGg>aAg	p.R789K	GPR158_uc001isk.3_Missense_Mutation_p.R164K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	789						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R789S(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCCTCATCAGGAAGAACCCC	0.547000														10			69		0	0	0.003610	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37524229	37524229	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:37524229G>A	uc002xje.3	+	3	532	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	PPP1R16B_uc010ggc.3_Missense_Mutation_p.E115K	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	115					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAACTTTGAGGAAATTGTGAA	0.602000														30			19		0	0	0.001216	0	0
NINL	22981	broad.mit.edu	37	20	25439082	25439082	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:25439082G>A	uc002wux.1	-	21	3854	c.3780C>T	c.(3778-3780)gcC>gcT	p.A1260A	NINL_uc010gdn.1_Silent_p.A911A|NINL_uc002wuw.1_Silent_p.A51A	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1260					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GATGCAGCTCGGCCACACGGT	0.672000														28			35		0	0	0.002836	0	0
SNX27	81609	broad.mit.edu	37	1	151641027	151641027	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:151641027G>A	uc001eyn.1	+	6	1081	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	SNX27_uc001eyo.3_Silent_p.L262L|SNX27_uc001eyp.3_Silent_p.L169L	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	Homo sapiens sorting nexin family member 27 (SNX27), mRNA.	355	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCACCTGCTTGACCATTCGAA	0.383000														36			50		0	0	0.003610	0	0
DLST	1743	broad.mit.edu	37	14	75365133	75365133	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:75365133C>T	uc001xqv.2	+	10	895	c.832C>T	c.(832-834)Cta>Tta	p.L278L	DLST_uc001xqu.2_Silent_p.L190L|DLST_uc001xqs.3_Silent_p.L95L|DLST_uc001xqt.2_Silent_p.L194L|DLST_uc010tuw.1_Silent_p.L192L	NM_001933	NP_001924	P36957	ODO2_HUMAN	Homo sapiens dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) (DLST), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	278					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TAACCTCAAACTAGGCTTCAT	0.458000														48			14		0	0	0.001855	0	0
HACE1	57531	broad.mit.edu	37	6	105233061	105233061	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:105233061G>A	uc003pqu.1	-	11	1485	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.A403V|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Missense_Mutation_p.A56V	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	403					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGGAATGGAAGCAGCATCTTG	0.423000														27			32		0	0	0.002445	0	0
OR52B2	255725	broad.mit.edu	37	11	6191344	6191344	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:6191344C>T	uc010qzy.2	-	0	213	c.213G>A	c.(211-213)atG>atA	p.M71I		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGGATGTCCATGACGGCCA	0.493000														85			84		0	0	0.003610	0	0
OR5B3	441608	broad.mit.edu	37	11	58170180	58170180	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:58170180G>A	uc010rkf.2	-	0	703	c.703C>T	c.(703-705)Cct>Tct	p.P235S		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGGACAAAGGCTTCTGGTAT	0.423000														40			19		0	0	0.006122	0	0
DNAH8	1769	broad.mit.edu	37	6	38738263	38738263	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:38738263G>A	uc021yzh.1	+	11	1801	c.1692G>A	c.(1690-1692)ggG>ggA	p.G564G	DNAH8_uc003ooe.2_Silent_p.G347G	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AATCCTCAGGGGAAAAATCTT	0.343000														10			20		0	0	0.000958	0	0
VPS13B	157680	broad.mit.edu	37	8	100479687	100479687	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:100479687A>G	uc003yiv.3	+	23	3602	c.3491A>G	c.(3490-3492)tAt>tGt	p.Y1164C	VPS13B_uc003yiw.3_Missense_Mutation_p.Y1164C|VPS13B_uc003yiu.1_Missense_Mutation_p.Y1164C|VPS13B_uc003yix.1_Missense_Mutation_p.Y634C	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1164					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCAGCATATATACCCTTCTT	0.428000														152			58		0	0	0.003610	0	0
UPP2	151531	broad.mit.edu	37	2	158977948	158977948	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:158977948C>T	uc002tzo.3	+	6	673	c.653C>T	c.(652-654)aCg>aTg	p.T218M	UPP2_uc002tzp.3_Missense_Mutation_p.T161M	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	161					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GTTGTAATAACGGATATAGCT	0.393000														134			74		0	0	0.003610	0	0
FCRL4	83417	broad.mit.edu	37	1	157548559	157548560	+	Splice_Site	DNP	CC	AT	AT			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:157548559_157548560CC>AT	uc001fqw.3	-	9	1496	c.1360_splice	c.e9+1	p.V454_splice	FCRL4_uc010phy.2_Intron	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	454						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGAATCCTCACCATCAACATAC	0.559000														18			25		0	0	0.004672	0	0
SLC5A12	159963	broad.mit.edu	37	11	26743063	26743064	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:26743063_26743064CC>AT	uc001mra.2	-	0	511_512	c.198_199GG>AT	c.(196-201)acggtc>acATtc	p.V67F	SLC5A12_uc001mrb.2_Intron|SLC5A12_uc001mrc.4_Missense_Mutation_p.V67F	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	67					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GTCCCCAGGACCGTGACAGCTG	0.510000														30			33		0	0	0.004672	0	0
UNC79	57578	broad.mit.edu	37	14	94063707	94063707	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:94063707G>A	uc001ybv.1	+	20	2745	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	UNC79_uc001ybs.1_Missense_Mutation_p.E888K	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1065						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CATTGCAGTGGAAAAAGTTGC	0.423000														51			6		0	0	0.001984	0	0
GPR98	84059	broad.mit.edu	37	5	89924572	89924572	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:89924572G>A	uc003kju.3	+	7	1528	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	478	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGATCTTCCAGAAGAGGCAGA	0.453000														37			37		0	0	0.004289	0	0
IGF1R	3480	broad.mit.edu	37	15	99500369	99500369	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:99500369G>A	uc002bul.3	+	20	3852	c.3802G>A	c.(3802-3804)Gag>Aag	p.E1268K	IGF1R_uc010bon.3_Missense_Mutation_p.E1267K	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1268	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CAGCATCAAAGAGGAGATGGA	0.567000														33			25		0	0	0.002780	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672908	141672908	+	Silent	SNP	G	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:141672908G>T	uc003vwx.1	-	0	666	c.582C>A	c.(580-582)tcC>tcA	p.S194S		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	194					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGAAGAGAAAGGAATAAAATA	0.418000														51			12		5.50884e-06	1.02943e-05	0.001368	1	0
SDK1	221935	broad.mit.edu	37	7	4152989	4152989	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:4152989C>T	uc003smx.3	+	23	3642	c.3503C>T	c.(3502-3504)aCc>aTc	p.T1168I	SDK1_uc010kso.3_Missense_Mutation_p.T444I	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1168	Fibronectin type-III 5.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GTCATCCAGACCCTGCAGGCC	0.597000														73			75		0	0	0.003610	0	0
MPL	4352	broad.mit.edu	37	1	43818334	43818334	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:43818334G>A	uc001ciw.3	+	11	1844	c.1799G>A	c.(1798-1800)gGg>gAg	p.G600E	MPL_uc009vwr.3_Missense_Mutation_p.G593E	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	600					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTTGCCTGGGGACCATGCCC	0.572000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							37			14		0	0	0.003163	0	0
INTS1	26173	broad.mit.edu	37	7	1518129	1518129	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:1518129G>A	uc003skn.2	-	32	4604	c.4503C>T	c.(4501-4503)ctC>ctT	p.L1501L		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1501					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCAGGCGCAGGAGCCCCCCTC	0.687000														18			7		0	0	0.000443	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53943841	53943841	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:53943841G>A	uc002rxi.4	-	5	863	c.758C>T	c.(757-759)cCc>cTc	p.P253L	GPR75-ASB3_uc021vhl.1_Missense_Mutation_p.P142L|GPR75-ASB3_uc002rxg.2_Missense_Mutation_p.P215L|GPR75-ASB3_uc002rxh.2_Missense_Mutation_p.P142L|GPR75-ASB3_uc010yoo.2_Missense_Mutation_p.P132L	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN	Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.	250					intracellular signal transduction			p.D211_L216delDKATPL(1)									AATGAACAAGGGTGTAGCTTT	0.403000														26			23		0	0	0.001882	0	0
MYO3A	53904	broad.mit.edu	37	10	26385322	26385322	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:26385322T>A	uc001isn.2	+	15	1935	c.1575T>A	c.(1573-1575)aaT>aaA	p.N525K	MYO3A_uc009xko.1_Missense_Mutation_p.N525K|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.N525K	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	525	Myosin head-like.		N -> K (in an ovarian mucinous carcinoma sample; somatic mutation).		protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.N525K(4)|p.N525S(2)|p.N525H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGAAAAAAATTTTCATATTT	0.318000														21			15		0	0	0.004007	0	0
CHRM3	1131	broad.mit.edu	37	1	240071827	240071827	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:240071827C>T	uc021plc.1	+	0	1076	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	CHRM3_uc001hyp.3_Missense_Mutation_p.S359F	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	359					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GACATTGGCTCCGAGACGAGA	0.572000														10			3		0	0	0.004672	0	0
KRT71	112802	broad.mit.edu	37	12	52946764	52946764	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:52946764C>T	uc001sao.3	-	0	168	c.98G>A	c.(97-99)cGg>cAg	p.R33Q		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	33	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)		GCTCCCTGCCCGGAAGGAGGA	0.652000														85			23		0	0	0.004656	0	0
MLL	4297	broad.mit.edu	37	11	118363900	118363900	+	Silent	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:118363900A>G	uc001pta.3	+	15	5147	c.5124A>G	c.(5122-5124)ctA>ctG	p.L1708L	MLL_uc001ptb.3_Silent_p.L1711L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1708	Bromo; divergent.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTTTAGATCTAGAAGGAGTCA	0.468000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									31			35		0	0	0.004878	0	0
UGT3A1	133688	broad.mit.edu	37	5	35955882	35955882	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:35955882C>T	uc003jjv.2	-	5	1353	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.G387E|UGT3A1_uc011cor.2_Missense_Mutation_p.G353E	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	387						integral to membrane	glucuronosyltransferase activity	p.V386V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GACTGGTAATCCCACCATGGG	0.507000														62			31		0	0	0.002836	0	0
DAPK2	23604	broad.mit.edu	37	15	64332401	64332401	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:64332401C>T	uc002amr.3	-	1	91	c.60G>A	c.(58-60)gaG>gaA	p.E20E	DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.E10E	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	20					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CATAAAAGTCCTCCACCTTCT	0.527000														63			31		0	0	0.002836	0	0
RGPD4	285190	broad.mit.edu	37	2	108487225	108487225	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:108487225G>A	uc010ywk.2	+	19	2847	c.2765G>A	c.(2764-2766)gGa>gAa	p.G922E	RGPD4_uc002tdu.3_Missense_Mutation_p.G109E|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	922					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCTGCTGATGGATTTAAATTT	0.388000														98			77		0	0	0.003610	0	0
CACNA1E	777	broad.mit.edu	37	1	181726222	181726222	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:181726222G>A	uc009wxt.3	+	29	4484	c.4289G>A	c.(4288-4290)gGg>gAg	p.G1430E	CACNA1E_uc001gow.3_Missense_Mutation_p.G1430E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G1411E|CACNA1E_uc001gox.1_Missense_Mutation_p.G656E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1430					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGGAGCAAGGGGATAAGATG	0.458000														24			28		0	0	0.001061	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47218690	47218690	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:47218690C>A	uc002ion.2	+	1	335	c.276C>A	c.(274-276)ttC>ttA	p.F92L	B4GALNT2_uc010wlt.1_Missense_Mutation_p.F6L|B4GALNT2_uc010wlu.1_Missense_Mutation_p.F32L	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	92					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GAAGCATGTTCCTTCAAGCAG	0.502000														144			29		1.74807e-11	3.31685e-11	0.002096	1	0
TMC1	117531	broad.mit.edu	37	9	75435973	75435973	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:75435973C>T	uc004aiz.1	+	19	2519	c.1979C>T	c.(1978-1980)cCa>cTa	p.P660L	TMC1_uc010moz.1_Missense_Mutation_p.P618L|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.P514L|TMC1_uc010mpa.1_Missense_Mutation_p.P514L	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	660					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCCCTCCCACCATCTTTTGAT	0.458000														30			129		0	0	0.003610	0	0
ZNF131	7690	broad.mit.edu	37	5	43174852	43174852	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:43174852C>A	uc011cpw.2	+	6	1525	c.1489C>A	c.(1489-1491)Caa>Aaa	p.Q497K	ZNF131_uc003jnj.4_Missense_Mutation_p.Q218K|ZNF131_uc003jnk.3_Missense_Mutation_p.Q463K|ZNF131_uc003jnn.4_Missense_Mutation_p.Q218K|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	Homo sapiens zinc finger protein 131 (ZNF131), mRNA.	497						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GACTGTGGAACAAGTCCATCC	0.478000														31			9		3.09899e-07	5.80569e-07	0.004482	1	0
PEAR1	375033	broad.mit.edu	37	1	156873814	156873814	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:156873814G>A	uc001fqj.1	+	1	212	c.96G>A	c.(94-96)tgG>tgA	p.W32*	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	32	EMI.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCAGCTTCTGGGAAAGGTGAG	0.592000														41			55		0	0	0.003610	0	0
ACVR1B	91	broad.mit.edu	37	12	52370345	52370345	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:52370345C>T	uc010snn.2	+	2	643	c.566C>T	c.(565-567)tCa>tTa	p.S189L	ACVR1B_uc001rzl.3_Missense_Mutation_p.S189L|ACVR1B_uc001rzm.3_Missense_Mutation_p.S189L|ACVR1B_uc001rzn.3_Missense_Mutation_p.S189L|ACVR1B_uc021qya.1_Missense_Mutation_p.S137L	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	189	GS.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTCTCCACCTCAGGGTCTGGC	0.512000														49			53		0	0	0.003610	0	0
SNAP91	9892	broad.mit.edu	37	6	84291985	84291985	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:84291985C>T	uc021zcf.1	-	21	2135	c.2105G>A	c.(2104-2106)gGg>gAg	p.G702E	SNAP91_uc011dzd.2_Missense_Mutation_p.G205E|SNAP91_uc003pka.3_Missense_Mutation_p.G700E|SNAP91_uc011dze.2_Missense_Mutation_p.G700E|SNAP91_uc003pkc.3_Missense_Mutation_p.G672E|SNAP91_uc003pkd.3_Missense_Mutation_p.G395E|SNAP91_uc003pkb.3_Missense_Mutation_p.G611E	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	702					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGGCGTTGTCCCAAAAGCTGC	0.453000														27			28		0	0	0.001271	0	0
RGS6	9628	broad.mit.edu	37	14	72936746	72936746	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:72936746C>T	uc001xna.4	+	7	1014	c.491C>T	c.(490-492)gCg>gTg	p.A164V	RGS6_uc021rvv.1_Missense_Mutation_p.A129V|RGS6_uc010ttn.2_Missense_Mutation_p.A164V|RGS6_uc021rvw.1_Missense_Mutation_p.A164V|RGS6_uc021rvx.1_Missense_Mutation_p.A164V|RGS6_uc021rvy.1_Missense_Mutation_p.A164V|RGS6_uc021rvz.1_Missense_Mutation_p.A164V|RGS6_uc001xmy.4_Missense_Mutation_p.A164V|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.A164V|RGS6_uc021rwa.1_Missense_Mutation_p.A164V|RGS6_uc021rwb.1_Missense_Mutation_p.A164V|RGS6_uc010ttp.1_Missense_Mutation_p.A95V|RGS6_uc021rwc.1_Missense_Mutation_p.A25V|RGS6_uc010arg.3_Non-coding_Transcript	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	164					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AGGGCCTTTGCGAGGAAGTGG	0.403000														46			6		0	0	0.001168	0	0
SPAG11B	10407	broad.mit.edu	37	8	7308309	7308309	+	Missense_Mutation	SNP	T	C	C	rs149408918	by1000genomes	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:7308309T>C	uc003wrl.3	-	2	495	c.328A>G	c.(328-330)Aat>Gat	p.N110D	SPAG11B_uc003wrg.1_Intron|SPAG11B_uc003wrh.1_Intron|SPAG11B_uc003wri.3_3'UTR|SPAG11B_uc003wrj.3_Missense_Mutation_p.N57D|SPAG11B_uc003wrk.3_3'UTR	NM_058201	NP_478108	Q08648	SG11B_HUMAN	Homo sapiens sperm associated antigen 11B (SPAG11B), transcript variant D, mRNA.	0					spermatogenesis	extracellular region				large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		CAACACCTATTCCAGGGATCA	0.438000														56			3		0	0	0.004672	0	0
TCL6	27004	broad.mit.edu	37	14	96136873	96136873	+	RNA	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:96136873C>T	uc001yep.1	+	7		c.1672C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Intron|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding 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)		CTTCCTTCTCCTTCTTGGAGT	0.517000			T	TRA@	T-ALL									25			8		0	0	0.000443	0	0
GABRB2	2561	broad.mit.edu	37	5	160721238	160721238	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:160721238C>T	uc003lys.1	-	10	1607	c.1389G>A	c.(1387-1389)aaG>aaA	p.K463K	GABRB2_uc011deh.1_Silent_p.K264K|GABRB2_uc003lyr.1_Silent_p.K425K|GABRB2_uc003lyt.1_Silent_p.K425K	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	463					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCGACTTTTCTTTTGCGCCA	0.522000														30			10		0	0	0.000443	0	0
RP1	6101	broad.mit.edu	37	8	55538614	55538614	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr8:55538614G>A	uc003xsd.1	+	3	2320	c.2172G>A	c.(2170-2172)ggG>ggA	p.G724G	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	724					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTAAAGGAGGGATACTTTGTG	0.338000														27			17		0	0	0.004007	0	0
RNF19B	127544	broad.mit.edu	37	1	33402703	33402703	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:33402703G>T	uc010oho.2	-	8	1903	c.1903C>A	c.(1903-1905)Ccc>Acc	p.P635T	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Missense_Mutation_p.P634T	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	635						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGCAGGGGGGATCCTCTTCA	0.567000														115			28		3.80469e-20	7.27513e-20	0.001786	1	0
DDR1	780	broad.mit.edu	37	6	30864588	30864589	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr6:30864588_30864589CC>TT	uc003nrv.3	+	11	1857_1858	c.1815_1816CC>TT	c.(1813-1818)ttccct>ttTTct	p.P606S	DDR1_uc010jse.3_Missense_Mutation_p.P569S|DDR1_uc003nrq.3_Missense_Mutation_p.P569S|DDR1_uc003nrr.3_Missense_Mutation_p.P606S|DDR1_uc003nrs.3_Missense_Mutation_p.P606S|DDR1_uc003nrt.3_Missense_Mutation_p.P569S|DDR1_uc011dms.2_Missense_Mutation_p.P587S|DDR1_uc003nru.3_Missense_Mutation_p.P569S|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Missense_Mutation_p.P341S	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	606					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P568S(1)|p.P606S(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAGTGGATTTCCCTCGATCTCG	0.619000														38			32		0	0	0.004672	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637799	23637799	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:23637799T>A	uc001bgr.4	-	9	1343	c.1184A>T	c.(1183-1185)aAt>aTt	p.N395I	HNRNPR_uc001bgo.3_Missense_Mutation_p.N5I|HNRNPR_uc010odw.2_Missense_Mutation_p.N357I|HNRNPR_uc009vql.3_Missense_Mutation_p.N256I|HNRNPR_uc001bgp.4_Missense_Mutation_p.N398I|HNRNPR_uc001bgs.4_Missense_Mutation_p.N294I|HNRNPR_uc009vqk.3_Missense_Mutation_p.N297I|HNRNPR_uc010odx.2_Missense_Mutation_p.N235I	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	395	RRM 3.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTCTTTGCCATTCATTTCATC	0.338000														12			14		0	0	0.001855	0	0
RGPD4	285190	broad.mit.edu	37	2	108488139	108488139	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:108488139G>A	uc010ywk.2	+	19	3761	c.3679G>A	c.(3679-3681)Ggt>Agt	p.G1227S	RGPD4_uc002tdu.3_Missense_Mutation_p.G414S|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1227					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTCAGGTACAGGTGCGGCCGG	0.413000														99			84		0	0	0.003610	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47583502	47583502	+	Missense_Mutation	SNP	C	T	T	rs145758676		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:47583502C>T	uc001cqu.1	+	11	1417	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	472						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AACTCTGCTCCGCTTCAAGCT	0.468000														10			37		0	0	0.003755	0	0
UGT2B4	7363	broad.mit.edu	37	4	70352395	70352395	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:70352395C>T	uc003hek.4	-	3	1069	c.1022G>A	c.(1021-1023)gGg>gAg	p.G341E	UGT2B4_uc011cap.2_Missense_Mutation_p.G205E|UGT2B4_uc003hel.4_Missense_Mutation_p.G341E	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	341					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TGGTTTATTCCCATCAAATCT	0.348000														45			59		0	0	0.003610	0	0
TRIM7	81786	broad.mit.edu	37	5	180625727	180625727	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:180625727C>T	uc003mmz.1	-	4	1018	c.951G>A	c.(949-951)aaG>aaA	p.K317K	TRIM7_uc003mmv.1_Silent_p.K135K|TRIM7_uc003mmw.1_Silent_p.K109K|TRIM7_uc003mmy.1_Silent_p.K109K|TRIM7_uc003mmx.1_Silent_p.K109K	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	317						cytoplasm|nucleus	zinc ion binding	p.K317T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		AGACAAAGGTCTTGAGAGAAA	0.527000														27			11		0	0	0.000978	0	0
FBXO48	554251	broad.mit.edu	37	2	68692015	68692015	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:68692015C>T	uc002seo.3	-	2	671	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	APLF_uc010fdf.2_5'Flank|APLF_uc002sep.3_5'Flank	NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	Homo sapiens F-box protein 48 (FBXO48), mRNA.	88										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						TATTTCTCTTCGGCACACAGC	0.433000														94			17		0	0	0.001523	0	0
A2ML1	144568	broad.mit.edu	37	12	8998726	8998726	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:8998726G>A	uc001quz.4	+	13	1689	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N	A2ML1_uc001qva.1_Missense_Mutation_p.D111N|A2ML1_uc010sgm.2_Missense_Mutation_p.D31N	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	375						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACTGGCCCCTGATCCTTCCCT	0.453000														46			59		0	0	0.003610	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87448144	87448144	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:87448144C>T	uc002fjz.1	-	9	1095	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.E132E	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	356					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TCTCTGACTTCTCCCTGTGAA	0.632000														17			13		0	0	0.002450	0	0
STK24	8428	broad.mit.edu	37	13	99127125	99127125	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:99127125G>A	uc001vnm.1	-	4	818	c.583C>T	c.(583-585)Cca>Tca	p.P195S	STK24_uc001vnn.1_Missense_Mutation_p.P183S|STK24_uc010tim.1_Missense_Mutation_p.P164S	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	195	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ATCCAGAATGGGGTGCCCACG	0.632000														29			53		0	0	0.003610	0	0
FCER1A	2205	broad.mit.edu	37	1	159273949	159273949	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:159273949C>T	uc001ftq.3	+	3	405	c.308C>T	c.(307-309)cCt>cTt	p.P103L		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	103	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GAGAGTGAACCTGTGTACCTG	0.393000														17			36		0	0	0.001706	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826519	43826519	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:43826519C>A	uc010skx.2	-	19	2816	c.2816G>T	c.(2815-2817)gGa>gTa	p.G939V	ADAMTS20_uc001rno.1_Missense_Mutation_p.G93V|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G93V	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	939	TSP type-1 3.					proteinaceous extracellular matrix	zinc ion binding	p.G939L(1)|p.G939V(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACAGTCTGTCCTTCATGAAT	0.423000														72			23		9.57634e-11	1.80318e-10	0.003330	1	0
DBH	1621	broad.mit.edu	37	9	136501646	136501646	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:136501646C>T	uc004cel.3	+	0	162	c.153C>T	c.(151-153)atC>atT	p.I51I		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	51					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCTATCACATCCCCCTGGACC	0.642000														7			19		0	0	0.006122	0	0
SF3B2	10992	broad.mit.edu	37	11	65824394	65824394	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:65824394A>G	uc001ogy.1	+	5	675	c.635A>G	c.(634-636)cAg>cGg	p.Q212R	SF3B2_uc001ogx.1_Missense_Mutation_p.Q211R	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	212					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GACATGGGCCAGATTGGTGTG	0.557000														39			26		0	0	0.003330	0	0
TAS2R8	50836	broad.mit.edu	37	12	10958879	10958879	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:10958879A>T	uc010shh.2	-	0	701	c.701T>A	c.(700-702)aTt>aAt	p.I234N		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	234					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CATAGTTTTAATGGCTCTCAC	0.333000														20			36		0	0	0.001287	0	0
OR4S2	219431	broad.mit.edu	37	11	55418383	55418383	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:55418383G>A	uc001nhs.1	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CCATTCCATGGAAAAAATAAA	0.328000														43			21		0	0	0.002299	0	0
LLGL1	3996	broad.mit.edu	37	17	18139963	18139963	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:18139963G>A	uc002gsp.3	+	11	1456	c.1395G>A	c.(1393-1395)gtG>gtA	p.V465V		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	465					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCTCGGGTGTGGCGCTGCGGC	0.667000														28			51		0	0	0.003610	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407474	55407474	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:55407474C>T	uc003jqu.3	-	9	1253	c.1101G>A	c.(1099-1101)agG>agA	p.R367R	ANKRD55_uc003jqt.3_Silent_p.R79R	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	366										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TGTATCGGTCCCTGCTGGGAT	0.507000														124			86		0	0	0.003610	0	0
LIX1	167410	broad.mit.edu	37	5	96460206	96460206	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:96460206C>T	uc003kmy.4	-	1	450	c.210G>A	c.(208-210)gtG>gtA	p.V70V		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	70										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		CTGGGAGGGTCACGTAACTCA	0.473000														47			37		0	0	0.004878	0	0
RXFP1	59350	broad.mit.edu	37	4	159533492	159533492	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:159533492G>A	uc003ipz.3	+	7	921	c.658G>A	c.(658-660)Gga>Aga	p.G220R	RXFP1_uc010iqj.2_Missense_Mutation_p.G49R|RXFP1_uc010iqk.3_Missense_Mutation_p.G88R|RXFP1_uc011cja.2_Missense_Mutation_p.G139R|RXFP1_uc010iqo.3_Missense_Mutation_p.G220R|RXFP1_uc011cjb.2_Missense_Mutation_p.G166R|RXFP1_uc011cjc.2_Missense_Mutation_p.G139R|RXFP1_uc011cjd.2_Missense_Mutation_p.G139R|RXFP1_uc010iql.3_Missense_Mutation_p.G88R|RXFP1_uc011cje.2_Missense_Mutation_p.G247R|RXFP1_uc010iqm.3_Missense_Mutation_p.G187R|RXFP1_uc011cjf.2_Missense_Mutation_p.G90R|RXFP1_uc010iqn.3_Missense_Mutation_p.G166R	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	220						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AACATTTTATGGACTAAATTC	0.274000														22			4		0	0	0.000602	0	0
CDH8	1006	broad.mit.edu	37	16	61935082	61935082	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:61935082C>T	uc002eog.2	-	3	1502	c.547_splice	c.e3+1	p.G183_splice		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	183	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AGCATACATACCCAAAATGGA	0.358000														24			15		0	0	0.000958	0	0
FSHR	2492	broad.mit.edu	37	2	49190802	49190802	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:49190802G>A	uc002rww.3	-	9	1268	c.1158C>T	c.(1156-1158)atC>atT	p.I386I	FSHR_uc010fbn.3_Silent_p.I360I|FSHR_uc002rwx.3_Silent_p.I324I	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	386					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGGTAGTTAGGATCACTAGCA	0.463000									Gonadal Dysgenesis, 46 XX					33			28		0	0	0.001061	0	0
CLGN	1047	broad.mit.edu	37	4	141315179	141315179	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:141315179C>T	uc011chi.2	-	11	1384	c.1166G>A	c.(1165-1167)cGa>cAa	p.R389Q	CLGN_uc003iii.3_Missense_Mutation_p.R389Q	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	389					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AGGAATTTTTCGAGGACTCCA	0.343000														28			9		0	0	0.000673	0	0
DBR1	51163	broad.mit.edu	37	3	137888984	137888984	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:137888984G>A	uc003erv.3	-	3	608	c.454C>T	c.(454-456)Cat>Tat	p.H152Y	DBR1_uc003eru.3_Missense_Mutation_p.H101Y	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	152						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTTCTCACATGATATATACTC	0.303000														37			183		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179635022	179635022	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:179635022C>T	uc021vsy.1	-	35	8631	c.8406G>A	c.(8404-8406)aaG>aaA	p.K2802K	TTN_uc021vsz.1_Silent_p.K2756K|TTN_uc021vta.1_Silent_p.K2756K|TTN_uc021vtb.1_Silent_p.K2756K|TTN_uc002unb.2_Silent_p.K2802K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2802							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)			CTGTCACATCCTTTGGCTTTT	0.403000														65			34		0	0	0.004289	0	0
MYO15A	51168	broad.mit.edu	37	17	18023225	18023225	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:18023225C>T	uc021trm.1	+	0	1330	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	MYO15A_uc021trl.1_Missense_Mutation_p.P371S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	371	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTACTTTGATCCCTACGGAGT	0.592000														111			21		0	0	0.002299	0	0
PIK3R5	23533	broad.mit.edu	37	17	8792001	8792001	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr17:8792001C>T	uc002glt.3	-	9	1170	c.1103G>A	c.(1102-1104)gGg>gAg	p.G368E	PIK3R5_uc010vuz.2_Missense_Mutation_p.G368E|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	368				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GAGGGCCGGCCCCGAGGCCTG	0.627000														47			6		0	0	0.003080	0	0
EZH2	2146	broad.mit.edu	37	7	148514973	148514973	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:148514973G>A	uc003wfd.2	-	9	1414	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	EZH2_uc022aov.1_Silent_p.S368S|EZH2_uc011kug.2_Silent_p.S398S|EZH2_uc003wfb.2_Silent_p.S412S|EZH2_uc003wfc.2_Silent_p.S368S|EZH2_uc011kuh.2_Silent_p.S398S|EZH2_uc011kui.2_Silent_p.S407S|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	407					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	p.D407D(1)|p.K406fs*17(1)		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)			TCTTACCAGAGGAGCTCGAAG	0.393000			Mis		DLBCL									70			14		0	0	0.000958	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28304486	28304486	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:28304486C>T	uc002ymg.3	-	5	2615	c.1886G>A	c.(1885-1887)cGt>cAt	p.R629H		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	629	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTGTTCATGACGAAATGATTT	0.373000														66			12		0	0	0.004007	0	0
PAPLN	89932	broad.mit.edu	37	14	73731022	73731022	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:73731022A>C	uc010ttx.2	+	19	3128	c.2965A>C	c.(2965-2967)Aag>Cag	p.K989Q	PAPLN_uc001xnw.4_Missense_Mutation_p.K962Q|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.K973Q|PAPLN_uc010arm.3_Missense_Mutation_p.K188Q|PAPLN_uc010arn.3_Missense_Mutation_p.K189Q	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	989	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGACTCCCAGAAGATCCAACT	0.657000														28			37		0	0	0.001287	0	0
CYP2A7	1549	broad.mit.edu	37	19	41383104	41383104	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:41383104G>A	uc002opm.3	-	6	1694	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	CYP2A7_uc002opo.3_Silent_p.F384F|CYP2A7_uc002opn.3_Silent_p.F333F	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	384						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.F384L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTTAGGGAGGAAAAAATCCC	0.527000														82			15		0	0	0.004007	0	0
AGBL1	123624	broad.mit.edu	37	15	87531290	87531290	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:87531290C>T	uc002blz.1	+	22	3236	c.3156C>T	c.(3154-3156)ttC>ttT	p.F1052F		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	1052					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						caaactttttcaagatgaacc	0.403000														141			72		0	0	0.003610	0	0
KCNH1	3756	broad.mit.edu	37	1	210970930	210970930	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:210970930C>T	uc001hib.2	-	8	2005	c.1835G>A	c.(1834-1836)gGa>gAa	p.G612E	KCNH1_uc001hic.2_Missense_Mutation_p.G585E	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	612					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AACGCTCTCTCCTGCATGGTA	0.607000														30			42		0	0	0.001485	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515407	140515407	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:140515407C>T	uc003liq.3	+	0	608	c.391C>T	c.(391-393)Cca>Tca	p.P131S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	131	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACCATGCCCCAGAGTTCCC	0.453000														47			23		0	0	0.002780	0	0
POTEF	728378	broad.mit.edu	37	2	130832585	130832585	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:130832585G>A	uc010fmh.2	-	16	2860	c.2460C>T	c.(2458-2460)acC>acT	p.T820T		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	820	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ACATGATCTGGGTCATCTTCT	0.597000														64			72		0	0	0.003610	0	0
ANO5	203859	broad.mit.edu	37	11	22294508	22294508	+	Silent	SNP	A	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:22294508A>T	uc001mqi.2	+	18	2525	c.2208A>T	c.(2206-2208)ggA>ggT	p.G736G	ANO5_uc001mqj.2_Silent_p.G735G	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	736						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCTTTATGGAATGGCTGTCC	0.433000														50			55		0	0	0.003610	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951551	119951551	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr4:119951551G>A	uc010inb.3	+	3	1817	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	SYNPO2_uc010ina.3_Missense_Mutation_p.E541K|SYNPO2_uc003icm.4_Missense_Mutation_p.E541K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.E469K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	541						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAGAAAGGAGGAAGAGTCGGT	0.512000														17			42		0	0	0.001706	0	0
GLYATL1	92292	broad.mit.edu	37	11	58722674	58722674	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:58722674G>A	uc001nnh.2	+	5	482	c.432G>A	c.(430-432)ggG>ggA	p.G144G	GLYATL1_uc001nnf.3_Silent_p.G113G|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Silent_p.G113G|GLYATL1_uc001nnj.2_Silent_p.G113G	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	113						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TAGGTGAGGGGATAAGAGTGG	0.428000														56			34		0	0	0.003755	0	0
CLEC4C	170482	broad.mit.edu	37	12	7882228	7882228	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:7882228C>T	uc001qtg.1	-	5	780	c.606G>A	c.(604-606)caG>caA	p.Q202Q	CLEC4C_uc001qth.1_Silent_p.Q202Q|CLEC4C_uc001qti.1_Silent_p.Q171Q	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	202	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AAATTGACTTCTGAGGTACAT	0.393000														22			33		0	0	0.002096	0	0
TMC5	79838	broad.mit.edu	37	16	19474688	19474688	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:19474688G>A	uc002dgc.4	+	7	1985	c.1236_splice	c.e7+1	p.R412_splice	TMC5_uc010vaq.2_Splice_Site_p.R412_splice|TMC5_uc002dgb.4_Splice_Site_p.R412_splice|TMC5_uc010var.2_Splice_Site_p.R412_splice|TMC5_uc002dgd.1_Splice_Site_p.R166_splice|TMC5_uc002dge.4_Splice_Site_p.R166_splice|TMC5_uc002dgf.4_Splice_Site_p.R95_splice|TMC5_uc002dgg.4_Splice_Site_p.R53_splice	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	412						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCATTTCCCGGGTAAGTCAG	0.463000														42			44		0	0	0.002852	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612508	96612508	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:96612508G>A	uc010qnz.2	+	8	1310	c.1310G>A	c.(1309-1311)gGa>gAa	p.G437E	CYP2C19_uc010qny.2_Missense_Mutation_p.G415E	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	437					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATTTGTGTGGGAGAGGGCCTG	0.433000														19			53		0	0	0.003610	0	0
ARF5	381	broad.mit.edu	37	7	127229612	127229613	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:127229612_127229613TC>AT	uc003vmb.2	+	2	369_370	c.222_223TC>AT	c.(220-225)attcgg>atATgg	p.R75W	ARF5_uc010llb.2_Missense_Mutation_p.R75W|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA.	75					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						AGGACAAGATTCGGCCTCTGTG	0.485000														73			14		0	0	0.004672	0	0
TEX11	56159	broad.mit.edu	37	X	69843814	69843814	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:69843814C>T	uc004dyl.3	-	20	1944	c.1782G>A	c.(1780-1782)ccG>ccA	p.P594P	TEX11_uc004dyk.3_Silent_p.P269P|TEX11_uc004dym.3_Silent_p.P579P	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	594							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTTCAGATTCCGGCATTTCAG	0.303000														7			34		0	0	0.004289	0	0
GPAM	57678	broad.mit.edu	37	10	113926232	113926232	+	Missense_Mutation	SNP	T	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:113926232T>G	uc009xxy.2	-	11	1359	c.1149A>C	c.(1147-1149)agA>agC	p.R383S	GPAM_uc001kzp.3_Missense_Mutation_p.R383S|GPAM_uc001kzq.1_Missense_Mutation_p.R383S	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	383					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TAATAACACCTCTTGCTACAC	0.383000														9			56		0	0	0.003610	0	0
USP21	27005	broad.mit.edu	37	1	161130921	161130921	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:161130921C>T	uc010pkc.2	+	2	868	c.491C>T	c.(490-492)cCt>cTt	p.P164L	USP21_uc010pkd.2_Missense_Mutation_p.P164L	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	164					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGGGGCTTTCCTGGACCCCCT	0.627000														20			32		0	0	0.003271	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413481	105413481	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr14:105413481G>A	uc010axc.1	-	6	8427	c.8307C>T	c.(8305-8307)gcC>gcT	p.A2769A	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A2669A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2769						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCACATCGGGGGCTGTCACTT	0.622000														72			128		0	0	0.003610	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995273	140995273	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:140995273C>T	uc004fbt.3	+	3	2407	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P354S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	695							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAAATTCCTCAGAGTCC	0.562000										HNSCC(15;0.026)				9			46		0	0	0.002522	0	0
USP24	23358	broad.mit.edu	37	1	55586392	55586392	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:55586392C>T	uc021onw.1	-	37	4638	c.4385G>A	c.(4384-4386)aGt>aAt	p.S1462N	USP24_uc001cyg.4_Missense_Mutation_p.S1296N	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1462					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTCTGTCTGACTAAGAGTGTA	0.468000														0			4		0	0	0.000602	0	0
PDCL	5082	broad.mit.edu	37	9	125582800	125582801	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:125582800_125582801TG>AT	uc004bmz.2	-	3	660_661	c.469_470CA>AT	c.(469-471)caa>ATa	p.Q157I		NM_005388	NP_005379	Q13371	PHLP_HUMAN	Homo sapiens phosducin-like (PDCL), mRNA.	157					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						CTGCTTGAATTGGGGCCCCTTG	0.436000														19			48		0	0	0.004672	0	0
GLRA1	2741	broad.mit.edu	37	5	151239414	151239414	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:151239414G>A	uc003lut.3	-	3	695	c.408C>T	c.(406-408)ttC>ttT	p.F136F	GLRA1_uc003lur.3_Silent_p.F136F|GLRA1_uc003lus.3_Silent_p.F53F	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	136					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGATCTCATGGAAGTGGGCCC	0.522000														38			48		0	0	0.003610	0	0
WDTC1	23038	broad.mit.edu	37	1	27618877	27618877	+	Silent	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:27618877C>T	uc009vst.2	+	6	1186	c.651C>T	c.(649-651)atC>atT	p.I217I	WDTC1_uc001bno.3_Silent_p.I217I|WDTC1_uc001bnp.1_Non-coding_Transcript	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	217							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TCCGCATGATCCATAACCACA	0.567000														54			9		0	0	0.004482	0	0
SVEP1	79987	broad.mit.edu	37	9	113238568	113238568	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr9:113238568C>T	uc010mtz.3	-	13	2852	c.2515G>A	c.(2515-2517)Gac>Aac	p.D839N	SVEP1_uc010mua.1_Missense_Mutation_p.D839N|SVEP1_uc004beu.2_Missense_Mutation_p.D839N	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	839					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGTCAATGTCCTCTGCATCA	0.373000														11			73		0	0	0.003610	0	0
O3FAR1	338557	broad.mit.edu	37	10	95347060	95347060	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr10:95347060C>G	uc010qnt.2	+	3	884	c.828C>G	c.(826-828)ttC>ttG	p.F276L	O3FAR1_uc010qnu.2_Missense_Mutation_p.F260L	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	276					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						AGCAGGACTTCCGGCTCTTCC	0.547000														13			96		0	0	0.003610	0	0
ABHD2	11057	broad.mit.edu	37	15	89698640	89698640	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:89698640G>A	uc002bnj.2	+	8	1331	c.413G>A	c.(412-414)aGc>aAc	p.S138N	ABHD2_uc002bnk.2_Missense_Mutation_p.S138N	NM_007011	NP_690888	P08910	ABHD2_HUMAN	Homo sapiens abhydrolase domain containing 2 (ABHD2), transcript variant 1, mRNA.	138						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCCAATCACAGCGAGAAGCAA	0.478000														54			40		0	0	0.003610	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000														8			4		0	0	0.000248	0	0
SLC36A2	153201	broad.mit.edu	37	5	150714951	150714951	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:150714951G>A	uc003lty.3	-	5	813	c.683C>T	c.(682-684)tCc>tTc	p.S228F	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.S30F|SLC36A2_uc010jhv.2_Missense_Mutation_p.S228F	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	228					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCAGCATGGAGAAGATGGT	0.567000														36			22		0	0	0.001523	0	0
TOE1	114034	broad.mit.edu	37	1	45807144	45807145	+	Splice_Site	DNP	GG	AA	AA			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr1:45807144_45807145GG>AA	uc009vxq.3	+	4	820	c.237_splice	c.e4-1	p.Q79_splice	MUTYH_uc001cnf.3_5'Flank|MUTYH_uc009vxo.3_5'Flank|MUTYH_uc001cng.3_5'Flank|MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Intron|TOE1_uc010oln.1_Splice_Site_p.Q85_splice|TOE1_uc001cnr.4_Splice_Site	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	79						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CCAACCCCAAGGTGCATTGAGG	0.584000														11			20		0	0	0.004672	0	0
DSCAM	1826	broad.mit.edu	37	21	41550861	41550861	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr21:41550861G>A	uc002yyq.1	-	14	3392	c.2940C>T	c.(2938-2940)gaC>gaT	p.D980D	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	980					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.D980D(2)|p.A979V(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)				TACCTGCCTCGTCCGCCGTGA	0.587000														22			37		0	0	0.005524	0	0
abParts	0	broad.mit.edu	37	15	22473102	22473102	+	RNA	SNP	C	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:22473102C>A	uc001yuj.2	-	6		c.226G>T								Parts of antibodies, mostly variable regions.																		GGCTGGCGGACCCAGCTCCAC	0.602000														187			61		1.12612e-26	2.15888e-26	0.003610	1	0
U2SURP	23350	broad.mit.edu	37	3	142769880	142769880	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:142769880C>T	uc003evh.1	+	24	2743	c.2644C>T	c.(2644-2646)Ctt>Ttt	p.L882F	U2SURP_uc003evi.1_Missense_Mutation_p.L473F|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.L881F|U2SURP_uc003evl.1_Missense_Mutation_p.L449F	NM_001080415	NP_001073884	O15042	SR140_HUMAN	Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA.	882	Glu-rich.				RNA processing	nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CAGAGATAAACTTCTTCAACG	0.338000														4			17		0	0	0.004990	0	0
CLIP1	6249	broad.mit.edu	37	12	122812709	122812709	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:122812709C>T	uc001ucg.2	-	17	3189	c.3034_splice	c.e17-1	p.E1012_splice	CLIP1_uc001uch.1_Splice_Site_p.E1001_splice|CLIP1_uc001uci.1_Splice_Site_p.E966_splice|CLIP1_uc001ucj.1_Splice_Site_p.E587_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1012					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E1001K(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ATTTTCTTTTCCTGCAGAGAC	0.493000														114			18		0	0	0.003755	0	0
RMND5A	64795	broad.mit.edu	37	2	86979038	86979038	+	Missense_Mutation	SNP	G	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:86979038G>C	uc002srr.2	+	2	682	c.305G>C	c.(304-306)aGc>aCc	p.S102T	RMND5A_uc002srs.4_Intron	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	102										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TCTGACATTAGCAGTGTGGGA	0.428000														19			14		0	0	0.003163	0	0
TMEM41B	440026	broad.mit.edu	37	11	9321194	9321194	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:9321194G>A	uc001mhm.3	-	1	503	c.176C>T	c.(175-177)tCc>tTc	p.S59F	TMEM41B_uc001mhn.2_Missense_Mutation_p.S59F|TMEM41B_uc021qdm.1_Missense_Mutation_p.S59F	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	59						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TAAGAAAATGGACACCAATAT	0.308000														44			46		0	0	0.003610	0	0
CXorf22	170063	broad.mit.edu	37	X	35994002	35994002	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chrX:35994002G>A	uc004ddj.3	+	14	2751	c.2685G>A	c.(2683-2685)ggG>ggA	p.G895G	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	895										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						CAGGAAGAGGGATAGCATTTT	0.333000														13			51		0	0	0.003610	0	0
HMGB1	3146	broad.mit.edu	37	13	31036680	31036680	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:31036680C>T	uc001usx.3	-	3	629	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	HMGB1_uc001usz.3_Missense_Mutation_p.E156K|HMGB1_uc001usv.3_Missense_Mutation_p.E156K|HMGB1_uc001usy.3_Missense_Mutation_p.E117K|HMGB1_uc001uta.1_Missense_Mutation_p.E156K	NM_002128	NP_002119	P09429	HMGB1_HUMAN	Homo sapiens high mobility group box 1 (HMGB1), mRNA.	156			E -> Q.		DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|dendritic cell chemotaxis|inflammatory response to antigenic stimulus|innate immune response|myeloid dendritic cell activation|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|neuron projection development|positive regulation of DNA binding|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|condensed chromosome|extracellular space|nucleolus|nucleoplasm	DNA bending activity|RAGE receptor binding|chemoattractant activity|cytokine activity|damaged DNA binding|double-stranded DNA binding|repressing transcription factor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|ovary(1)	8		Lung SC(185;0.0257)		all cancers(112;0.072)|OV - Ovarian serous cystadenocarcinoma(117;0.177)|Lung(94;0.216)|GBM - Glioblastoma multiforme(144;0.232)		CTTACCTTTTCATATTTTTCC	0.403000														84			6		0	0	0.001168	0	0
GPER	2852	broad.mit.edu	37	7	1131809	1131810	+	Missense_Mutation	DNP	AC	TA	TA			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr7:1131809_1131810AC>TA	uc010ksd.1	+	1	834_835	c.445_446AC>TA	c.(445-447)acc>TAc	p.T149Y	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.T149Y|GPER_uc003ska.1_Missense_Mutation_p.T149Y|GPER_uc003skb.2_Missense_Mutation_p.T149Y|GPER_uc021zyo.1_Missense_Mutation_p.T149Y	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA.	149						Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CTTCTTCCTCACCTGGATGAGC	0.614000														50			16		0	0	0.004672	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403158	1403158	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr5:1403158C>T	uc003jck.3	-	12	1772	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	549					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GATGTAGGCTCCGTAGTGGGG	0.622000														19			15		0	0	0.004007	0	0
COL7A1	1294	broad.mit.edu	37	3	48626838	48626838	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:48626838C>G	uc003ctz.2	-	16	2237	c.2236G>C	c.(2236-2238)Gat>Cat	p.D746H		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	746	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACTCAGTATCTGGCTCCAGT	0.622000														51			6		0	0	0.001984	0	0
GCOM1	145781	broad.mit.edu	37	15	57925928	57925928	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr15:57925928C>T	uc002aei.3	+	7	1053	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	GCOM1_uc002aej.3_Missense_Mutation_p.R308C|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.R308C|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R308C	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	308					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GCTGATTGAGCGCATGGAAAA	0.507000														37			40		0	0	0.002522	0	0
ATP12A	479	broad.mit.edu	37	13	25276115	25276115	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr13:25276115A>C	uc010aaa.3	+	13	2275	c.1942A>C	c.(1942-1944)Att>Ctt	p.I648L	ATP12A_uc001upp.3_Missense_Mutation_p.I642L	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	642					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AGCCAAAGCTATTGCCAAGAG	0.473000														53			82		0	0	0.003610	0	0
MUC16	94025	broad.mit.edu	37	19	9071825	9071825	+	Silent	SNP	T	G	G			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:9071825T>G	uc002mkp.3	-	2	15825	c.15621A>C	c.(15619-15621)acA>acC	p.T5207T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5209	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						GTAGAAAACTTGTGTCCGTGG	0.458000														194			40		0	0	0.001287	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691147	18691147	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:18691147G>A	uc001rdt.3	+	23	3374	c.3258G>A	c.(3256-3258)ggG>ggA	p.G1086G	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.G1127G|PIK3C2G_uc010sic.2_Silent_p.G905G	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1086	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGAGGGTGGGAAAAACCCAC	0.398000														58			18		0	0	0.006122	0	0
ZNF831	128611	broad.mit.edu	37	20	57767335	57767335	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:57767335G>A	uc002yan.3	+	0	1261	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	421						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGTGGTGGACGATGCCCAGCT	0.672000														16			13		0	0	0.001368	0	0
ALG10B	144245	broad.mit.edu	37	12	38715009	38715009	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:38715009G>A	uc001rln.4	+	2	1555	c.1416G>A	c.(1414-1416)atG>atA	p.M472I		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	472					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	p.F471V(1)		breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AAAGGTTTATGTGGTAATATC	0.308000														34			65		0	0	0.003610	0	0
FPR1	2357	broad.mit.edu	37	19	52250117	52250117	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr19:52250117T>C	uc021uyn.1	-	2	277	c.131A>G	c.(130-132)aAc>aGc	p.N44S	FPR1_uc002pxq.3_Missense_Mutation_p.N44S|FPR1_uc021uyo.1_Missense_Mutation_p.N44S	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	44					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CACAAGCCCGTTGCCCAGGAC	0.532000														13			39		0	0	0.001287	0	0
MOGS	7841	broad.mit.edu	37	2	74688900	74688900	+	Silent	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr2:74688900G>A	uc010ffj.3	-	3	2179	c.2016C>T	c.(2014-2016)ctC>ctT	p.L672L	MOGS_uc010ffh.3_Silent_p.L397L|MOGS_uc010yrt.2_Silent_p.L553L|MOGS_uc010ffi.3_Silent_p.L566L	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	672					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCACCCGAACGAGCCCCTGAG	0.587000														61			37		0	0	0.001485	0	0
GXYLT2	727936	broad.mit.edu	37	3	73024140	73024140	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr3:73024140G>A	uc003dpg.3	+	6	1162	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA.	388					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TCCCTTTCAAGACAATCTCTT	0.348000														32			79		0	0	0.003610	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62491837	62491838	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:62491837_62491838insC	uc001nuw.3	-	1	828_829	c.599_600insG	c.(598-600)gtafs	p.V200fs	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	200	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCTGTCTCTTTACCCCCCGCCG	0.495													---	158	---	---	9	---					
HNRNPUL2	221092	broad.mit.edu	37	11	62491838	62491839	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:62491838_62491839insC	uc001nuw.3	-	1	827_828	c.598_599insG	c.(598-600)gtafs	p.V200fs	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	200	Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTCTCTTTACCCCCCGCCGC	0.500													---	148	---	---	21	---					
PVRL1	5818	broad.mit.edu	37	11	119535677	119535678	+	In_Frame_Ins	INS	-	CCT	CCT	rs137909701	by1000genomes	TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr11:119535677_119535678insCCT	uc001pwv.3	-	5	1505_1506	c.1333_1334insAGG	c.(1333-1335)ggc>gAGGgc	p.444_445insE	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	444	Poly-Glu.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.E444fs*>73(2)|p.G445G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCCTCCACCGCcctcctcctcc	0.658													---	45	---	---	10	---					
ATF7IP	55729	broad.mit.edu	37	12	14577971	14577973	+	In_Frame_Del	DEL	TAT	-	-			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr12:14577971_14577973delTAT	uc001rbw.3	+	1	1280_1282	c.1122_1124delTAT	c.(1120-1125)gatatt>gat	p.I376del	ATF7IP_uc010shs.1_In_Frame_Del_p.I376del|ATF7IP_uc001rbu.3_In_Frame_Del_p.I376del|ATF7IP_uc001rbv.1_In_Frame_Del_p.I376del|ATF7IP_uc001rbx.3_In_Frame_Del_p.I376del|ATF7IP_uc010sht.1_In_Frame_Del_p.I376del|ATF7IP_uc001rby.4_In_Frame_Del_p.I376del|ATF7IP_uc001rbz.1_In_Frame_Del_p.I376del|ATF7IP_uc001rca.3_In_Frame_Del_p.I376del|ATF7IP_uc001rcb.3_5'UTR	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	376	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TAGAGGAAGATATTATCACAGAG	0.350													---	91	---	---	27	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	G	G	rs2981599		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													---	206	---	---	10	---					
SALL3	27164	broad.mit.edu	37	18	76755055	76755055	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr18:76755055delC	uc002lmt.3	+	1	3064	c.3064delC	c.(3064-3066)cagfs	p.Q1022fs	SALL3_uc010dra.3_Intron	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1022					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TAATTTAAAACAGCACTTACT	0.522													---	27	---	---	37	---					
C20orf27	54976	broad.mit.edu	37	20	3735139	3735139	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr20:3735139delG	uc002wjh.1	-	4	633	c.404delC	c.(403-405)gcgfs	p.A135fs	C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wji.1_Frame_Shift_Del_p.A110fs	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	Homo sapiens chromosome 20 open reading frame 27 (C20orf27), mRNA.	110										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						CTCTTTGTGCGCCGAGTACTC	0.642													---	63	---	---	19	---					
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	-	-	rs71769813		TCGA-FS-A1ZS-06A-12D-A197-08	TCGA-FS-A1ZS-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c24feb7-7460-49db-b6f7-64ccf377311a	50ea367b-5ca1-4338-9fcf-0fd0db568b1a	g.chr22:20920814_20920816delCAG	uc002zsp.3	+	6	831_833	c.751_753delCAG	c.(751-753)cagdel	p.Q262del	MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.3_In_Frame_Del_p.Q262del|MED15_uc010gso.3_In_Frame_Del_p.Q262del|MED15_uc002zsr.3_In_Frame_Del_p.Q236del|MED15_uc011ahs.2_In_Frame_Del_p.Q236del|MED15_uc002zss.3_In_Frame_Del_p.Q181del|MED15_uc011ahu.2_5'UTR	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591													---	56	---	---	8	---