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
SKI	6497	broad.mit.edu	37	1	2234792	2234792	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:2234792G>A	uc001aja.4	+	2	1236	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	388					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CAGTGTCAGCGAGTGAGAAAG	0.622												
HIVEP3	59269	broad.mit.edu	37	1	42048030	42048030	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:42048030C>T	uc001cgz.4	-	3	3652	c.2439G>A	c.(2437-2439)gaG>gaA	p.E813E	HIVEP3_uc001cha.4_Silent_p.E813E|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	813	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CACTCGGCTGCTCGAGAGAAT	0.557												
ZYG11B	79699	broad.mit.edu	37	1	53250588	53250588	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:53250588C>T	uc001cuj.3	+	4	1327	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Missense_Mutation_p.P369S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	378							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TATGAATTTGCCAGTGCAACT	0.458												
PCSK9	255738	broad.mit.edu	37	1	55527067	55527067	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:55527067G>A	uc001cyf.2	+	10	2063	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	567					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCCACTGGGAGGTGGAGGACC	0.642												
TACSTD2	4070	broad.mit.edu	37	1	59041860	59041860	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:59041860C>T	uc001cyz.4	-	0	1307	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	323					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					CGGGTACCTACAAGCTCGGTT	0.592												
DDX20	11218	broad.mit.edu	37	1	112305594	112305594	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:112305594C>T	uc001ebs.3	+	9	1634	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	DDX20_uc010owf.2_Missense_Mutation_p.A188V|DDX20_uc001ebt.3_Missense_Mutation_p.A34V	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	426	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	p.I425N(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAGAATTGCCCAGAAATGT	0.353												
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423												
CRNN	49860	broad.mit.edu	37	1	152382359	152382359	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:152382359G>A	uc001ezx.2	-	2	1273	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	400					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.P400L(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTCCCGGTACTGTCTC	0.612												
CD1D	912	broad.mit.edu	37	1	158153825	158153825	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:158153825C>T	uc001frr.3	+	6	1485	c.986_splice	c.e6+1	p.T329_splice	CD1D_uc009wss.3_Splice_Site_p.T236_splice	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	329					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAGGCAAACGTAAGTCTCC	0.512												
SERPINC1	462	broad.mit.edu	37	1	173883833	173883833	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:173883833C>T	uc001gjt.3	-	1	385	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	89			R -> C (in AT3D; type-I).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GGTAGCAAAGCGGGAATTGGC	0.532											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PRG4	10216	broad.mit.edu	37	1	186280588	186280588	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:186280588G>A	uc001gru.4	+	9	3704	c.3653G>A	c.(3652-3654)cGt>cAt	p.R1218H	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.R1177H|PRG4_uc009wyl.3_Missense_Mutation_p.R1125H|PRG4_uc009wym.3_Missense_Mutation_p.R1084H|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1218	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAGTACTGGCGTTTTACCAAT	0.353												
LHX9	56956	broad.mit.edu	37	1	197889248	197889248	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:197889248C>T	uc001guk.1	+	1	758	c.321C>T	c.(319-321)tcC>tcT	p.S107S	LHX9_uc001gui.1_Silent_p.S98S	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	107	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.S107S(2)|p.E106G(1)|p.S98S(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCCTCGAGTCCGAGCTCACCT	0.557												
OBSCN	84033	broad.mit.edu	37	1	228509734	228509734	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:228509734G>A	uc009xez.1	+	54	15236	c.15192G>A	c.(15190-15192)gcG>gcA	p.A5064A	OBSCN_uc001hsn.3_Silent_p.A5064A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5064					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.T5063S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTTGAGGCGCTCACTGAGG	0.612												
C10orf53	282966	broad.mit.edu	37	10	50901822	50901822	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:50901822G>T	uc001jid.1	+	1	160	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	CHAT_uc010qgs.1_Silent_p.L542L|C10orf53_uc001jib.3_Missense_Mutation_p.V34L|C10orf53_uc001jic.1_Missense_Mutation_p.V34L	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 1, mRNA.	34										endometrium(1)|lung(6)	7		all_neural(218;0.107)				CTTCCCAGCTGTGTTGGCCAT	0.468												
STOX1	219736	broad.mit.edu	37	10	70644150	70644150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:70644150C>T	uc001jos.2	+	2	685	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	STOX1_uc001joq.3_Nonsense_Mutation_p.Q90*|STOX1_uc001jor.3_Nonsense_Mutation_p.Q200*|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Nonsense_Mutation_p.Q90*	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	200						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TACAACCACCCAGGAAAATAA	0.443												
PTEN	5728	broad.mit.edu	37	10	89692810	89692810	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:89692810delA	uc001kfb.3	+	4	1326	c.294delA	c.(292-294)ctafs	p.L98fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	98	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACCACAGCTAGAACTTATCA	0.358		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs149004156	by1000genomes	TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:320606G>T	uc001lpa.2	-	0	309	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	BC040735_uc001loz.3_Intron	NM_021034	NP_066362	Q01628	IFM3_HUMAN	Homo sapiens interferon induced transmembrane protein 3 (IFITM3), mRNA.	70	Interaction with SPP1.				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P70T(6)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632												
KRTAP5-4	387267	broad.mit.edu	37	11	1643251	1643251	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:1643251C>T	uc009ycy.1	-	0	118	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	105						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cagccagagccacagccccca	0.692												
SLC6A5	9152	broad.mit.edu	37	11	20636272	20636272	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:20636272A>T	uc001mqd.3	+	5	1306	c.1033A>T	c.(1033-1035)Act>Tct	p.T345S	SLC6A5_uc009yic.3_Missense_Mutation_p.T110S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	345					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S344S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAAGAACTCGACTTTCTGCAT	0.403												
OR8H3	390152	broad.mit.edu	37	11	55890213	55890213	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:55890213G>A	uc001nii.1	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCCTATGATCGCTATGCAGCG	0.468												
OR5A1	219982	broad.mit.edu	37	11	59210760	59210760	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:59210760C>T	uc001nnx.1	+	0	119	c.119C>T	c.(118-120)aCc>aTc	p.T40I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCTATCTTACCACCCTGGCC	0.502												
PPP1R32	220004	broad.mit.edu	37	11	61249365	61249365	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:61249365C>T	uc001nru.2	+	1	216	c.84C>T	c.(82-84)taC>taT	p.Y28Y	PPP1R32_uc009ynq.2_Silent_p.Y28Y	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 32 (PPP1R32), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	28																	TGAAATTCTACGCCACCAGCT	0.622												
OVOL1	5017	broad.mit.edu	37	11	65561705	65561705	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:65561705C>T	uc001ofp.3	+	1	644	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	OVOL1_uc001ofq.3_Missense_Mutation_p.R40C	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	102					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		TGGCTTCCTGCGCACCAAGAT	0.612												
KRTAP5-8	57830	broad.mit.edu	37	11	71249153	71249153	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:71249153G>A	uc001oqr.1	+	0	83	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	18						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGGGGGCTGCGGCTCTGGCTG	0.652												
ARRB1	408	broad.mit.edu	37	11	74979943	74979943	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:74979943C>T	uc001owe.2	-	13	1307	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	ARRB1_uc001owf.2_Silent_p.P353P	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	361	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTTCCCGATGCGGGGGTTCCT	0.622												
GRIN2B	2904	broad.mit.edu	37	12	13716218	13716218	+	Silent	SNP	G	G	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr12:13716218G>C	uc001rbt.2	-	12	4133	c.3954C>G	c.(3952-3954)gcC>gcG	p.A1318A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1318					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L1317M(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTGCGCGGGGCCAGGGCGG	0.587												
OAS1	4938	broad.mit.edu	37	12	113346549	113346549	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr12:113346549G>A	uc001tuc.3	+	1	495	c.389G>A	c.(388-390)cGt>cAt	p.R130H	OAS1_uc010syn.2_Missense_Mutation_p.R129H|OAS1_uc010syo.2_Missense_Mutation_p.R129H|OAS1_uc001tub.3_Missense_Mutation_p.R130H|OAS1_uc001tud.3_Missense_Mutation_p.R130H|OAS1_uc009zwf.3_Missense_Mutation_p.R129H	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	130	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.R130L(4)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGCAACCCCCGTGCGCTCAGC	0.577												
OR4K15	81127	broad.mit.edu	37	14	20443959	20443959	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:20443959C>T	uc010tkx.2	+	0	282	c.282C>T	c.(280-282)gaC>gaT	p.D94D		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D94D(4)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTATAGACGTATGTGTTG	0.453												
ARHGEF40	55701	broad.mit.edu	37	14	21543075	21543075	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:21543075G>T	uc001vzp.3	+	2	1215	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y	ARHGEF40_uc001vzn.1_Missense_Mutation_p.D396Y|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	396					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CCGAGGAGGGGACAGTGCCCC	0.597												
CHD8	57680	broad.mit.edu	37	14	21871175	21871175	+	Splice_Site	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:21871175C>T	uc001war.2	-	17	3779	c.3714_splice	c.e17+1	p.Q1238_splice	CHD8_uc001was.2_Splice_Site_p.Q959_splice|CHD8_uc001wav.1_Splice_Site_p.Q401_splice	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1238	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATTCCTTTACCTGCAGGTCA	0.403												
ACTN1	87	broad.mit.edu	37	14	69356891	69356891	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:69356891C>T	uc001xkl.3	-	10	1509	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	ACTN1_uc001xkk.3_5'Flank|ACTN1_uc010ttb.2_Missense_Mutation_p.R335Q|ACTN1_uc001xkm.3_Missense_Mutation_p.R400Q|ACTN1_uc001xkn.3_Missense_Mutation_p.R400Q|ACTN1_uc001xko.1_Missense_Mutation_p.R335Q|ACTN1_uc010ttd.1_Missense_Mutation_p.R379Q	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	400	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCCTTCTGCCGGAACTTCTC	0.647												
FMN1	342184	broad.mit.edu	37	15	33261285	33261285	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:33261285C>T	uc001zhf.4	-	3	1948	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	873	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	p.A650T(1)|p.A873T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGGATGGATGCGGGAGGCGGA	0.612												
ITGA11	22801	broad.mit.edu	37	15	68643617	68643617	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:68643617G>A	uc010bib.3	-	7	960	c.873C>T	c.(871-873)aaC>aaT	p.N291N	ITGA11_uc002ari.3_Silent_p.N291N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	291	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ATCTTGTTACGTTGTCTCTTT	0.552												
CSPG4	1464	broad.mit.edu	37	15	75980091	75980091	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:75980091C>T	uc002baw.3	-	2	3408	c.3315G>A	c.(3313-3315)ctG>ctA	p.L1105L		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1105	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGGACACCTGCAGCTGGATCC	0.657												
C15orf27	123591	broad.mit.edu	37	15	76430102	76430102	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:76430102C>T	uc002bbq.3	+	2	248	c.93C>T	c.(91-93)gaC>gaT	p.D31D	C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	31						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AACAAGTAGACGAAGAAACCA	0.537												
C15orf26	161502	broad.mit.edu	37	15	81429012	81429012	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:81429012C>T	uc002bgb.3	+	2	342	c.315C>T	c.(313-315)gaC>gaT	p.D105D	C15orf26_uc010blp.1_Silent_p.D80D	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	105										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATCTGAAAGACGAATTAGAGG	0.448												
HAPLN3	145864	broad.mit.edu	37	15	89430480	89430480	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:89430480C>A	uc002bnd.3	-	2	317	c.236G>T	c.(235-237)gGa>gTa	p.G79V	HAPLN3_uc002bnc.3_Missense_Mutation_p.G17V|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	17	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GAAGGGCAGTCCGTAGGAGCC	0.642												
GNPTG	84572	broad.mit.edu	37	16	1412483	1412483	+	Missense_Mutation	SNP	G	G	A	rs139997459		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:1412483G>A	uc002clm.3	+	7	624	c.557G>A	c.(556-558)cGg>cAg	p.R186Q		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.	186						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCCCTGCAGCGGCAGTGGGAC	0.682												
TEKT5	146279	broad.mit.edu	37	16	10788509	10788509	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:10788509C>T	uc002czz.1	-	0	294	c.222G>A	c.(220-222)ccG>ccA	p.P74P		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	74					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGATGGTGGGCGGCCGCAGGG	0.642												
ITGAM	3684	broad.mit.edu	37	16	31336846	31336846	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:31336846G>A	uc002ebr.3	+	20	2632	c.2534G>A	c.(2533-2535)cGc>cAc	p.R845H	ITGAM_uc002ebq.3_Missense_Mutation_p.R844H|ITGAM_uc010can.3_Missense_Mutation_p.R250H|ITGAM_uc002ebs.1_Missense_Mutation_p.R250H	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	844					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.R844H(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGATCCTGGCGCCTGGCCTGT	0.602												
DPEP3	64180	broad.mit.edu	37	16	68010069	68010069	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:68010069C>T	uc002evc.4	-	8	1326	c.1232G>A	c.(1231-1233)cGt>cAt	p.R411H	DPEP3_uc010cex.3_Missense_Mutation_p.R410H	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	386					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GCTCCAGCTACGACTCAGCAA	0.577												
CNTNAP4	85445	broad.mit.edu	37	16	76482757	76482757	+	Missense_Mutation	SNP	G	G	A	rs148969138		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:76482757G>A	uc002fex.1	+	4	984	c.845G>A	c.(844-846)cGt>cAt	p.R282H	CNTNAP4_uc002feu.1_Missense_Mutation_p.R278H|CNTNAP4_uc002fev.1_Missense_Mutation_p.R191H|CNTNAP4_uc010chb.1_Missense_Mutation_p.R254H|CNTNAP4_uc002few.2_Missense_Mutation_p.R254H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	279	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCATCCAGCGTTTGGGCAAA	0.483												
SDR42E1	93517	broad.mit.edu	37	16	82033639	82033639	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:82033639G>A	uc002fgu.3	-	2	387	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	87					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	p.R87R(2)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						AGTTGCTCCCGCCCTGACATA	0.498												
CDH13	1012	broad.mit.edu	37	16	83704506	83704506	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:83704506G>A	uc010vns.2	+	9	1618	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	CDH13_uc002fgx.3_Missense_Mutation_p.G405R|CDH13_uc010vnt.2_Missense_Mutation_p.G151R|CDH13_uc010vnu.2_Missense_Mutation_p.G366R	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	405	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CATCATCAACGGAAACCCCGG	0.498												
TNFAIP1	7126	broad.mit.edu	37	17	26666722	26666722	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr17:26666722G>A	uc002hax.2	+	1	194	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	TNFAIP1_uc002hay.3_Missense_Mutation_p.G59R|TNFAIP1_uc010waf.2_Intron	NM_021137	NP_066960	Q13829	BACD2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.	59	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CATGTTCAGTGGGCGCATGGA	0.617												
KRT32	3882	broad.mit.edu	37	17	39619277	39619277	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr17:39619277G>A	uc002hwr.3	-	5	1083	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	341	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTCACTCTCCGTCAGCGTGTT	0.572												
DCC	1630	broad.mit.edu	37	18	50451729	50451729	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr18:50451729T>C	uc002lfe.2	+	4	1590	c.974T>C	c.(973-975)cTc>cCc	p.L325P	DCC_uc010xdr.1_Missense_Mutation_p.L173P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	325	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTGCAGAGCTCACAGTCTTG	0.388												
ATCAY	85300	broad.mit.edu	37	19	3909561	3909561	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:3909561G>A	uc010xhz.2	+	7	1226	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	ATCAY_uc002lyy.4_Missense_Mutation_p.R242Q|ATCAY_uc010dts.3_5'UTR			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	242	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGCCCCGGCGGAGGATGCCT	0.592												
TNFSF9	8744	broad.mit.edu	37	19	6534936	6534936	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:6534936C>T	uc002mfh.2	+	2	662	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	208					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACCTGAGTGCCGGCCAGCGCC	0.697												
DOCK6	57572	broad.mit.edu	37	19	11361720	11361720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:11361720G>A	uc002mqs.4	-	5	591	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	184					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCACTGCTTCGAGGGGTGTCT	0.607												
OR10H5	284433	broad.mit.edu	37	19	15905063	15905063	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:15905063A>G	uc010xos.2	+	0	205	c.205A>G	c.(205-207)Acc>Gcc	p.T69A		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCTCTCCATCACCGAGATCCT	0.622												
HIF3A	64344	broad.mit.edu	37	19	46832519	46832519	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:46832519A>G	uc002peh.3	+	11	1527	c.1496A>G	c.(1495-1497)gAc>gGc	p.D499G	HIF3A_uc002peg.4_Missense_Mutation_p.D499G|HIF3A_uc021uwf.1_Missense_Mutation_p.D443G|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.D430G|HIF3A_uc002pel.3_Missense_Mutation_p.D497G|HIF3A_uc010xxz.2_Missense_Mutation_p.D448G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	499	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ATGGATGATGACTTCCAGCTC	0.622												
FPR2	2358	broad.mit.edu	37	19	52272915	52272915	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:52272915C>T	uc002pxr.3	+	1	1049	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	FPR2_uc002pxs.4_Missense_Mutation_p.T335M|FPR2_uc010epf.3_Missense_Mutation_p.T335M|FPR2_uc021uyp.1_Missense_Mutation_p.T335M	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	335					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.T335R(2)|p.T335T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACTAATGACACGGCTGCCAAT	0.537												
ZNF71	58491	broad.mit.edu	37	19	57133247	57133247	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:57133247C>T	uc002qnm.4	+	2	830	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	ZNF71_uc021vcg.1_Missense_Mutation_p.R198C	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCAGCCAGCGCATGAACCT	0.637												
CCDC88A	55704	broad.mit.edu	37	2	55563820	55563821	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:55563820_55563821delTC	uc002ryv.2	-	13	2494_2495	c.1652_1653delGA	c.(1651-1653)agafs	p.R551fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.R453fs|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.3_5'Flank	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	551					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TATGAACCTGTCTCTCTGAATT	0.262												
SMYD5	10322	broad.mit.edu	37	2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:73453009_73453011delGAG	uc002siw.2	+	12	1221_1223	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	SMYD5_uc010yre.1_In_Frame_Del_p.E287del	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	403	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562												
IL18RAP	8807	broad.mit.edu	37	2	103040451	103040451	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:103040451G>T	uc002tbx.3	+	3	735	c.251G>T	c.(250-252)tGg>tTg	p.W84L	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	84					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GATGTCCAATGGTACCAACAA	0.458												
LRP2	4036	broad.mit.edu	37	2	170112639	170112639	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:170112639G>A	uc002ues.3	-	18	2960	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L	LRP2_uc010zdf.1_Missense_Mutation_p.P779L	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	916					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.P916Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGTCCAAACGGATGTGTCAT	0.378												
TTN	7273	broad.mit.edu	37	2	179442111	179442111	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:179442111G>A	uc021vsy.1	-	272	61472	c.61247C>T	c.(61246-61248)gCa>gTa	p.A20416V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A14111V|TTN_uc021vta.1_Missense_Mutation_p.A14044V|TTN_uc021vtb.1_Missense_Mutation_p.A13919V|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21343	Fibronectin type-III 48.						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)			GTCTTTTCCTGCCTTGGACCA	0.403												
MFF	56947	broad.mit.edu	37	2	228195421	228195421	+	Missense_Mutation	SNP	A	A	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:228195421A>T	uc002vos.3	+	3	530	c.118A>T	c.(118-120)Act>Tct	p.T40S	MFF_uc002vot.3_Missense_Mutation_p.T14S|MFF_uc002vow.3_Missense_Mutation_p.T14S|MFF_uc002voy.3_Missense_Mutation_p.T40S|MFF_uc021vxu.1_Missense_Mutation_p.T14S|MFF_uc002voz.3_Missense_Mutation_p.T14S	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	40						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AATGGAATATACTGAAGGCAT	0.458												
UGT1A1	54575	broad.mit.edu	37	2	234545533	234545533	+	Missense_Mutation	SNP	C	C	T	rs145610800		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:234545533C>T	uc002vur.3	+	0	411	c.365C>T	c.(364-366)tCg>tTg	p.S122L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S122L	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	125					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)	TTATTTTTTTCGCATTGCAGG	0.363												
NEU4	129807	broad.mit.edu	37	2	242755707	242755707	+	Missense_Mutation	SNP	G	G	A	rs138212045		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:242755707G>A	uc002wcp.2	+	1	559	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	NEU4_uc010fzr.3_Missense_Mutation_p.R9Q|NEU4_uc002wcm.3_Missense_Mutation_p.R9Q|NEU4_uc002wco.2_Missense_Mutation_p.R9Q|NEU4_uc002wcn.2_Missense_Mutation_p.R21Q	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	9						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		ACCCCTTCACGGACAGTGCTC	0.692												
CHGB	1114	broad.mit.edu	37	20	5903871	5903871	+	Missense_Mutation	SNP	C	C	T	rs144051265		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:5903871C>T	uc002wmg.3	+	3	1387	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	CHGB_uc010zqz.2_Missense_Mutation_p.R44C	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	361						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGAGTGGGAGCGCTATAGGGG	0.527												
SNTA1	6640	broad.mit.edu	37	20	32000203	32000203	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:32000203C>T	uc002wzd.1	-	4	1211	c.939G>A	c.(937-939)ctG>ctA	p.L313L	SNTA1_uc010zuf.1_Intron	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	313	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TTAGCAGGGCCAGGGTGGGGG	0.652												
SRMS	6725	broad.mit.edu	37	20	62178625	62178625	+	Silent	SNP	C	C	T	rs140773907		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:62178625C>T	uc002yfi.1	-	0	233	c.192G>A	c.(190-192)gcG>gcA	p.A64A		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	64	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCCACACCGCGCCGTGAAGT	0.692												
PCNT	5116	broad.mit.edu	37	21	47850134	47850134	+	Missense_Mutation	SNP	T	T	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr21:47850134T>C	uc002zji.4	+	35	8008	c.7901T>C	c.(7900-7902)gTc>gCc	p.V2634A	PCNT_uc002zjj.3_Missense_Mutation_p.V2516A	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2634					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGCAGGAGGTCCTCCAGCTG	0.607												
FBLN2	2199	broad.mit.edu	37	3	13670420	13670420	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:13670420C>T	uc011avc.2	+	11	2967	c.2585C>T	c.(2584-2586)aCg>aTg	p.T862M	FBLN2_uc011auz.2_Missense_Mutation_p.T841M|FBLN2_uc011avb.2_Missense_Mutation_p.T815M|FBLN2_uc011ava.2_Missense_Mutation_p.T862M	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	863	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACGAGTGCACGTCACTGTCC	0.662												
FBLN2	2199	broad.mit.edu	37	3	13670486	13670486	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:13670486A>G	uc011avc.2	+	11	3033	c.2651A>G	c.(2650-2652)cAg>cGg	p.Q884R	FBLN2_uc011auz.2_Missense_Mutation_p.Q863R|FBLN2_uc011avb.2_Missense_Mutation_p.Q837R|FBLN2_uc011ava.2_Missense_Mutation_p.Q884R	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	885	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TACACATGCCAGAGGAACCCG	0.652												
KCNH8	131096	broad.mit.edu	37	3	19575088	19575088	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:19575088G>A	uc003cbk.1	+	15	3016	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R	KCNH8_uc010hex.1_Missense_Mutation_p.G402R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	941						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCAAACAGGCGGGGCTGCTTA	0.547												
RTP3	83597	broad.mit.edu	37	3	46542293	46542293	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:46542293C>T	uc003cps.1	+	1	671	c.603C>T	c.(601-603)taC>taT	p.Y201Y		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	201					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTATTCCTACGCATGCCAAA	0.453												
DNAH1	25981	broad.mit.edu	37	3	52433096	52433096	+	Missense_Mutation	SNP	G	G	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:52433096G>C	uc011bef.2	+	75	12581	c.12320G>C	c.(12319-12321)gGc>gCc	p.G4107A	DNAH1_uc003ddv.3_Missense_Mutation_p.G965A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	4172					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCCAAGATGGCATCCCAGCT	0.532												
NT5DC2	64943	broad.mit.edu	37	3	52563292	52563292	+	Silent	SNP	G	G	A	rs148646310		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:52563292G>A	uc003den.3	-	1	331	c.291C>T	c.(289-291)aaC>aaT	p.N97N	NT5DC2_uc003dem.3_5'Flank|NT5DC2_uc010hmi.3_Silent_p.N97N|NT5DC2_uc010hmj.3_5'UTR|NT5DC2_uc003deo.3_Silent_p.N60N	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	60							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GGCTGATCTCGTTGTTGGCGT	0.592												
KIAA1524	57650	broad.mit.edu	37	3	108276241	108276241	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:108276241C>A	uc003dxb.4	-	16	2303	c.2034G>T	c.(2032-2034)atG>atT	p.M678I		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	678						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTCTCAACATACTAGCAA	0.368												
PLSCR2	57047	broad.mit.edu	37	3	146177634	146177634	+	Splice_Site	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:146177634C>T	uc021xfa.1	-	4	716	c.276_splice	c.e4+1	p.Q92_splice	PLSCR2_uc003evw.2_Splice_Site_p.Q88_splice|PLSCR2_uc003evv.2_Splice_Site_p.Q19_splice	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	19					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTTGAAATTACCTGACTTAAG	0.373												
NFXL1	152518	broad.mit.edu	37	4	47864932	47864932	+	Silent	SNP	T	T	C			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:47864932T>C	uc010igh.3	-	19	2424	c.2247_splice	c.e19-1	p.R749_splice	NFXL1_uc003gxo.3_Splice_Site_p.R74_splice|NFXL1_uc003gxp.3_Splice_Site_p.R749_splice|NFXL1_uc003gxq.4_Splice_Site|NFXL1_uc010igi.3_Splice_Site_p.R749_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	749						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGGTTATTTTTCTAAAAATAA	0.269												
TXK	7294	broad.mit.edu	37	4	48069656	48069656	+	Nonstop_Mutation	SNP	A	A	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:48069656A>T	uc003gxx.4	-	14	1668	c.1582T>A	c.(1582-1584)Tga>Aga	p.*528R	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Nonstop_Mutation_p.*215R	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	0						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GTTTCCGGTCACCAGGTTTCC	0.483												
TMPRSS11F	389208	broad.mit.edu	37	4	68934340	68934340	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:68934340A>G	uc003hdt.1	-	6	800	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	251	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACTTACTTCCAAAAGCAGTGA	0.522												
SCARB2	950	broad.mit.edu	37	4	77102252	77102255	+	Splice_Site	DEL	TCCC	TCCC	-	rs145870223		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:77102252_77102255delTCCC	uc003hju.2	-	3	632	c.276_splice	c.e3-1	p.R92_splice	SCARB2_uc011cbu.2_Intron	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Homo sapiens scavenger receptor class B, member 2 (SCARB2), transcript variant 1, mRNA.	92					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GTTTCTGAGTTCCCTAAAAGAAAG	0.319												
CDH18	1016	broad.mit.edu	37	5	19503219	19503219	+	Splice_Site	SNP	C	C	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:19503219C>G	uc003jgd.3	-	11	2047	c.1513_splice	c.e11-1	p.V505_splice	CDH18_uc011cnm.2_Splice_Site_p.V505_splice|CDH18_uc003jgc.3_Splice_Site_p.V505_splice|CDH18_uc021xwu.1_Splice_Site_p.V505_splice	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	505	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TATGAATAACCTAAAGAAAAG	0.303												
CDH9	1007	broad.mit.edu	37	5	26881626	26881626	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:26881626G>A	uc003jgs.1	-	11	2158	c.1989C>T	c.(1987-1989)ggC>ggT	p.G663G	CDH9_uc011cnv.1_Silent_p.G256G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	663					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCCCCGCCGCCTTCATCGT	0.438												
UGT3A2	167127	broad.mit.edu	37	5	36035988	36035988	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:36035988C>T	uc003jjz.2	-	6	1516	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	UGT3A2_uc011cos.2_Missense_Mutation_p.V428I|UGT3A2_uc011cot.2_Missense_Mutation_p.V160I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	462						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCTGGAGGACGTGGTCAATC	0.617												
PCDHAC2	56141	broad.mit.edu	37	5	140215418	140215418	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:140215418G>A	uc003lhq.2	+	0	1450	c.1450G>A	c.(1450-1452)Gcg>Acg	p.A484T	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_uc011dac.2_Missense_Mutation_p.A484T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	498	Cadherin 5.				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)			GGACGCGGACGCGCAGAAGAA	0.677												
DRD1	1812	broad.mit.edu	37	5	174869392	174869392	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:174869392G>A	uc003mcz.3	-	1	1656	c.711C>T	c.(709-711)caC>caT	p.H237H	DRD1_uc021yia.1_Silent_p.H237H	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	237					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AATTCTTGGCGTGGACTGCTG	0.483												
EEF1A1	1915	broad.mit.edu	37	6	74229088	74229088	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:74229088A>G	uc003phi.3	-	1	1288	c.296T>C	c.(295-297)aTc>aCc	p.I99T	EEF1A1_uc003phj.3_Missense_Mutation_p.I99T|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	99						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATGTTTTTGATAAAGTCTCT	0.408											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
BACH2	60468	broad.mit.edu	37	6	90660866	90660866	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:90660866G>A	uc011eab.2	-	6	1833	c.959C>T	c.(958-960)cCc>cTc	p.P320L	BACH2_uc003pnw.3_Missense_Mutation_p.P320L|BACH2_uc010kch.3_Missense_Mutation_p.P320L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	320						nucleus	protein dimerization activity|sequence-specific DNA binding	p.P320S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGGGCCGTGGGGGTAGGGGC	0.637												
FAM184A	79632	broad.mit.edu	37	6	119301415	119301415	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:119301415G>A	uc003pyj.3	-	9	2537	c.2189C>T	c.(2188-2190)aCg>aTg	p.T730M	FAM184A_uc003pyk.4_Missense_Mutation_p.T610M|FAM184A_uc003pyl.4_Missense_Mutation_p.T610M	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	730								p.T730M(2)|p.T730T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAGCTCTTGCGTAAGCCGCTG	0.423												
TTYH3	80727	broad.mit.edu	37	7	2687687	2687687	+	Missense_Mutation	SNP	G	G	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:2687687G>T	uc003smp.3	+	5	909	c.722_splice	c.e5+1	p.G241_splice	TTYH3_uc010ksn.3_Intron|TTYH3_uc003smq.3_Splice_Site_p.G70_splice	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	241						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CATCCTGGTGGGGTGAGTCTG	0.662												
AHR	196	broad.mit.edu	37	7	17379818	17379818	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:17379818C>T	uc011jxz.1	+	9	2982	c.2369C>T	c.(2368-2370)cCa>cTa	p.P790L		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	790					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CAGTACAATCCAGTACTGCCA	0.443												
C7orf62	219557	broad.mit.edu	37	7	88423665	88423665	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:88423665C>T	uc003ujv.3	-	1	774	c.592G>A	c.(592-594)Gat>Aat	p.D198N	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.D198N	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	198								p.D198N(4)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTAAGTTATCGCCTGGTCCT	0.423												
RELN	5649	broad.mit.edu	37	7	103205876	103205876	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:103205876A>G	uc022ajr.1	-	33	5219	c.5059T>C	c.(5059-5061)Tct>Cct	p.S1687P	RELN_uc022ajq.1_Missense_Mutation_p.S1687P|RELN_uc010liz.3_Missense_Mutation_p.S1687P	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1687					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S1687Y(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGTTCAGAGAATACTGGAGC	0.473												
RELN	5649	broad.mit.edu	37	7	103338351	103338351	+	Silent	SNP	G	G	A	rs142192165		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:103338351G>A	uc022ajr.1	-	9	1252	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RELN_uc022ajq.1_Silent_p.L364L|RELN_uc010liz.3_Silent_p.L364L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	364					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S363G(1)|p.L364I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACTGGGTCGAGACTATCTT	0.418												
CNTNAP2	26047	broad.mit.edu	37	7	146825899	146825899	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:146825899A>G	uc003weu.2	+	6	1570	c.1054A>G	c.(1054-1056)Aga>Gga	p.R352G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	352	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGATCTTGCCAGAAGGAAGAA	0.388										HNSCC(39;0.1)		
REPIN1	29803	broad.mit.edu	37	7	150069842	150069842	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:150069842G>A	uc022apt.1	-	0					REPIN1_uc003whd.2_Silent_p.S493S|REPIN1_uc010lpq.1_Silent_p.S504S|REPIN1_uc010lpr.1_Silent_p.S561S|REPIN1_uc003whc.2_Silent_p.S504S|REPIN1_uc003whe.2_Silent_p.S504S			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).						DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACCTGGTGTCGCACCGGCGCA	0.667												
TEX15	56154	broad.mit.edu	37	8	30701172	30701172	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:30701172G>A	uc003xil.3	-	0	5362	c.5362C>T	c.(5362-5364)Cga>Tga	p.R1788*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1788										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTAACCTGTCGTTTGTACTTT	0.343												
DPY19L4	286148	broad.mit.edu	37	8	95792643	95792643	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:95792643G>A	uc003ygx.2	+	15	1756	c.1632_splice	c.e15+1	p.E544_splice		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	544						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TATGGAAAGAGGtaaaaaaat	0.299												
HAS2	3037	broad.mit.edu	37	8	122641443	122641443	+	Silent	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:122641443A>G	uc003yph.2	-	1	676	c.138T>C	c.(136-138)ttT>ttC	p.F46F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	46						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATACAGTCCAAAAGAGAAAT	0.418												
FAM75C1	441452	broad.mit.edu	37	9	90536465	90536465	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:90536465C>T	uc010mqi.3	+	3	1672	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	FAM75C1_uc004apq.4_Missense_Mutation_p.A531V	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GTTCTGGGGGCGACCTCTGAG	0.512												
CTSL2	1515	broad.mit.edu	37	9	99799549	99799549	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:99799549C>T	uc010msi.3	-	3	588	c.381G>A	c.(379-381)acG>acA	p.T127T	CTSL2_uc004awt.3_Silent_p.T127T|CTSL2_uc004awu.3_Silent_p.T72T|CTSL2_uc010msj.2_Silent_p.T72T|CTSL2_uc010msk.3_Silent_p.T72T	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	127						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				TCTTCACTGGCGTCACGTAGC	0.483												
AK8	158067	broad.mit.edu	37	9	135702390	135702390	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:135702390C>T	uc004cbu.1	-	7	1164	c.608G>A	c.(607-609)cGt>cAt	p.R203H	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_5'UTR	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	203						cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.R203H(3)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						CACCATGAGACGGTTCTGGAT	0.517												
CACNA1B	774	broad.mit.edu	37	9	140881238	140881238	+	Missense_Mutation	SNP	A	A	G			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:140881238A>G	uc004cog.3	+	14	2051	c.1906A>G	c.(1906-1908)Aac>Gac	p.N636D	CACNA1B_uc022bqn.1_Missense_Mutation_p.N636D|CACNA1B_uc011mfd.2_Missense_Mutation_p.N238D	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	636					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTCAGGTTCAACTTCCAGGA	0.602												
ZRSR2	8233	broad.mit.edu	37	X	15841126	15841126	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:15841126G>A	uc004cxg.4	+	10	1255	c.1210G>A	c.(1210-1212)Ggg>Agg	p.G404R		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.	404					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TCGTCACAGGGGGAAGAAATC	0.552			"""F, S, Mis"""		"""MDS, CLL"""							
FTHL17	53940	broad.mit.edu	37	X	31089936	31089936	+	Silent	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:31089936G>A	uc004dcl.1	-	0	235	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	45	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGGCCACGTCGTCCCGGTTGA	0.582												
HUWE1	10075	broad.mit.edu	37	X	53591568	53591568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:53591568delC	uc004dsp.3	-	50	7398	c.6996delG	c.(6994-6996)gggfs	p.G2332fs	HUWE1_uc004dsn.3_Frame_Shift_Del_p.G1156fs	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2332	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTCAGGCTGCCCAGCAATCA	0.562												
FAM155B	27112	broad.mit.edu	37	X	68725733	68725733	+	Missense_Mutation	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:68725733C>T	uc004dxk.3	+	0	656	c.608C>T	c.(607-609)aCg>aTg	p.T203M		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	203						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACACCTACACGGTCTGGGAC	0.632												
AIFM1	9131	broad.mit.edu	37	X	129272643	129272643	+	Missense_Mutation	SNP	G	G	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:129272643G>A	uc004evg.3	-	8	1123	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	AIFM1_uc011mur.2_5'Flank|AIFM1_uc011mus.2_Missense_Mutation_p.R298W|AIFM1_uc004evh.3_Missense_Mutation_p.R294W|AIFM1_uc004evi.3_Intron|AIFM1_uc004evk.3_5'UTR	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TTGACTTCCCGTGAAATCTTC	0.433												
GPR112	139378	broad.mit.edu	37	X	135431775	135431775	+	Silent	SNP	C	C	T			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:135431775C>T	uc004ezu.1	+	5	6201	c.5910C>T	c.(5908-5910)gaC>gaT	p.D1970D	GPR112_uc010nsb.1_Silent_p.D1765D|GPR112_uc010nsc.1_Silent_p.D1737D	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1970					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D1970D(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTGGCTGACGTTAAGCACA	0.413												
SRPK3	26576	broad.mit.edu	37	X	153049211	153049211	+	Missense_Mutation	SNP	C	C	A			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:153049211C>A	uc004fik.3	+	14	3402	c.977C>A	c.(976-978)aCc>aAc	p.T326N	SRPK3_uc004fim.3_Splice_Site_p.T259_splice|SRPK3_uc004fil.3_Missense_Mutation_p.T260N|SRPK3_uc004fin.3_Splice_Site_p.T259_splice|SRPK3_uc010nul.3_Splice_Site_p.T217_splice	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	260	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACAGCAGACCGGTAAGCTG	0.622												
