Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ZMYND8	23613	broad.mit.edu	37	20	45927672	45927672	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:45927672G>A	uc010zxy.1	-	3	357	c.275C>T	c.(274-276)cCg>cTg	p.P92L	ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Missense_Mutation_p.P65L|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_5'UTR|ZMYND8_uc002xsx.1_5'UTR|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Missense_Mutation_p.P65L|ZMYND8_uc002xtb.1_Missense_Mutation_p.P85L|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Missense_Mutation_p.P85L|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Missense_Mutation_p.P65L|ZMYND8_uc010zya.1_Missense_Mutation_p.P65L|ZMYND8_uc002xtf.1_Missense_Mutation_p.P85L|ZMYND8_uc002xtg.3_Intron|ZMYND8_uc010ghs.2_Intron|ZMYND8_uc002xth.3_Missense_Mutation_p.P85L	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	65							protein binding|zinc ion binding	p.P85L(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			ATAGTAAAACGGACCATGTCT	0.423000														88			17		0	0	0.001523	0	0
AMHR2	269	broad.mit.edu	37	12	53823728	53823728	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:53823728G>A	uc001scx.2	+	8	1334	c.1254G>A	c.(1252-1254)tgG>tgA	p.W418*	AMHR2_uc009zmy.2_Nonsense_Mutation_p.W418*|AMHR2_uc021qyg.1_Intron	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	418	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TGCTCCTGTGGGAGATACTGA	0.587000														49			12		0	0	0.001368	0	0
CCDC108	255101	broad.mit.edu	37	2	219903208	219903208	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219903208C>T	uc002vjl.1	-	3	330	c.246G>A	c.(244-246)agG>agA	p.R82R	CCDC108_uc010zkp.1_Silent_p.R71R|CCDC108_uc010zkq.1_Silent_p.R17R|CCDC108_uc002vjn.3_Silent_p.R17R	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	82						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGTGTGGTTCCTGCTGTTCC	0.592000														11			20		0	0	0.002780	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48222486	48222486	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:48222486A>T	uc002iqh.4	-	2	1475	c.1472T>A	c.(1471-1473)cTg>cAg	p.L491Q		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	497	Interacts with RGS2 (By similarity).|Interacts with protein phosphatase 1 (By similarity).				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCCTTCTCCAGCTCCACAGG	0.622000														24			13		0	0	0.001368	0	0
ANKMY1	51281	broad.mit.edu	37	2	241439872	241439872	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:241439872G>A	uc010fzd.1	-	13	2762	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F	ANKMY1_uc002vzb.1_Silent_p.F551F|ANKMY1_uc002vzc.1_Silent_p.F569F|ANKMY1_uc002vyz.1_Silent_p.F790F|ANKMY1_uc002vza.1_Silent_p.F566F|ANKMY1_uc002vzd.1_Silent_p.F613F	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	790							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CACCTACCTGGAAGAATCTGA	0.607000														26			23		0	0	0.006320	0	0
HGFAC	3083	broad.mit.edu	37	4	3449220	3449220	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:3449220C>T	uc003ghc.3	+	11	1359	c.1356_splice	c.e11-1	p.S452_splice	HGFAC_uc010icw.3_Splice_Site_p.S459_splice	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	452	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTTGCACAGCCCCCCCAGGGA	0.672000														39			17		0	0	0.004990	0	0
IQSEC3	440073	broad.mit.edu	37	12	176501	176501	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:176501G>A	uc001qhw.2	+	0	453	c.453G>A	c.(451-453)aaG>aaA	p.K151K		NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	151					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGACTGACAAGGAGAAGGAGC	0.682000														45			6		0	0	0.004482	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535151	96535151	+	Silent	SNP	C	T	T	rs5030781		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96535151C>T	uc010qnz.2	+	2	336	c.336C>T	c.(334-336)atC>atT	p.I112I	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Silent_p.I90I	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	112					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TGTTAGGAATCGTTTTCAGCA	0.532000														40			6		0	0	0.003080	0	0
FADS6	283985	broad.mit.edu	37	17	72875551	72875551	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:72875551C>T	uc002jmd.1	-	4	901	c.889G>A	c.(889-891)Gat>Aat	p.D297N	FADS6_uc010wrn.1_Missense_Mutation_p.D151N	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	303					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CACATGTTATCAGAGAGCCTG	0.597000														30			14		0	0	0.004990	0	0
LAMA5	3911	broad.mit.edu	37	20	60892007	60892007	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:60892007G>A	uc002ycq.3	-	55	7651	c.7584C>T	c.(7582-7584)atC>atT	p.I2528I	LAMA5_uc021wfw.1_Silent_p.I2528I	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2528	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGCCTGCAGGATGCGGCTGT	0.687000														16			17		0	0	0.007413	0	0
VAT1L	57687	broad.mit.edu	37	16	77918577	77918577	+	Silent	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:77918577T>C	uc002ffg.1	+	6	1052	c.955T>C	c.(955-957)Tta>Cta	p.L319L		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	319							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						GTTTTCCCTTTTAAATCTGCT	0.507000														10			11		0	0	0.008291	0	0
PGD	5226	broad.mit.edu	37	1	10479548	10479548	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:10479548C>T	uc001arc.3	+	11	1374	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	PGD_uc010oak.2_Silent_p.S406S	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	428					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CTGCCCTCTCCTTCTATGACG	0.622000														37			33		0	0	0.002096	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140773266	140773266	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:140773266G>A	uc003lkd.2	+	0	1784	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.E296K|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	297	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCTTAATGAAAATACTGG	0.388000														15			49		0	0	0.003610	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036637	13036637	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:13036637C>T	uc009vnq.1	+	1	709	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	PRAMEF6_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	Homo sapiens PRAME family member 22 (PRAMEF22), mRNA.	237								p.R237H(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						GAGGAATCTTCGCAAACTCTT	0.473000														101			26		0	0	0.001786	0	0
SLC12A5	57468	broad.mit.edu	37	20	44663604	44663604	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:44663604G>A	uc010zxl.1	+	1	215	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	SLC12A5_uc002xra.2_Missense_Mutation_p.E24K|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.E24K	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	47					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAACCCCAAGGAAAGCAGTCC	0.542000														119			11		0	0	0.000978	0	0
LAMB3	3914	broad.mit.edu	37	1	209797343	209797343	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:209797343C>T	uc001hhg.3	-	13	2369	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	LAMB3_uc009xco.3_Missense_Mutation_p.R660Q|LAMB3_uc001hhh.3_Missense_Mutation_p.R660Q|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	660	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CTGGAGAGTTCGCCTGAGAAG	0.532000														30			7		0	0	0.001984	0	0
SCN1A	6323	broad.mit.edu	37	2	166868727	166868727	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:166868727C>T	uc002udo.4	-	20	3998	c.3771G>A	c.(3769-3771)aaG>aaA	p.K1257K	SCN1A_uc010fpk.3_Silent_p.K1229K|SCN1A_uc021vsb.1_Silent_p.K1246K	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1257						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGTGAAAACCTTGTCAGCAT	0.343000														6			5		0	0	0.000602	0	0
OR4M2	390538	broad.mit.edu	37	15	22369378	22369378	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:22369378C>T	uc010tzu.2	+	0	901	c.803C>T	c.(802-804)tCc>tTc	p.S268F	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S268F(2)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GACTCGTTTTCCCTAGATAAA	0.423000														66			7		0	0	0.003080	0	0
STYXL1	51657	broad.mit.edu	37	7	75634723	75634723	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:75634723C>T	uc003uel.3	-	6	797	c.454_splice	c.e6-1	p.E152_splice	STYXL1_uc003uef.3_Splice_Site|STYXL1_uc011kgg.2_Splice_Site_p.E4_splice|STYXL1_uc003ueh.3_Splice_Site_p.E14_splice|STYXL1_uc011kgf.2_Splice_Site_p.E14_splice|STYXL1_uc003uek.4_Splice_Site_p.E56_splice|STYXL1_uc003uem.3_Splice_Site_p.E152_splice|STYXL1_uc010ldg.2_Splice_Site|STYXL1_uc010ldh.2_Splice_Site_p.E152_splice|STYXL1_uc003uen.1_Splice_Site_p.E152_splice	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	152					intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CATCCAGTTCCTGAAGTGTGG	0.493000														25			30		0	0	0.003755	0	0
TRANK1	9881	broad.mit.edu	37	3	36898613	36898613	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:36898613C>T	uc003cgj.3	-	11	2716	c.2468G>A	c.(2467-2469)gGa>gAa	p.G823E		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	823					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTCGCCATTTCCCAGCTGCTG	0.512000														24			37		0	0	0.004878	0	0
PSD	5662	broad.mit.edu	37	10	104175860	104175860	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:104175860G>A	uc001kvg.1	-	2	1198	c.671C>T	c.(670-672)tCc>tTc	p.S224F	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.S224F	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	224					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TTCCCGGGGGGAGGACCAGGT	0.542000														4			5		0	0	0.001984	0	0
CLIP2	7461	broad.mit.edu	37	7	73790454	73790454	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:73790454C>T	uc003uam.3	+	9	2050	c.1723C>T	c.(1723-1725)Cag>Tag	p.Q575*	CLIP2_uc003uan.3_Nonsense_Mutation_p.Q540*|CLIP2_uc003uao.3_5'UTR	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	575						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAAGGCCTACCAGGCGGAGGT	0.642000														18			12		0	0	0.000978	0	0
PHF2P1	266695	broad.mit.edu	37	13	19622192	19622192	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:19622192G>A	uc001umb.1	-	9		c.3619C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		TTGAAGTTGGGAAACTGAGTC	0.532000														30			30		0	0	0.002836	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229822	87229822	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:87229822G>A	uc003ydq.1	-	2	1154	c.1056C>T	c.(1054-1056)atC>atT	p.I352I	SLC7A13_uc003ydr.1_Silent_p.I343I	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	352						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GACTTGTTAAGATAATTGCAA	0.358000														36			42		0	0	0.008740	0	0
EPHB2	2048	broad.mit.edu	37	1	23233345	23233345	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:23233345C>T	uc009vqj.1	+	10	2176	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	EPHB2_uc001bge.3_Silent_p.F678F|EPHB2_uc001bgf.3_Silent_p.F677F|EPHB2_uc010odu.2_Silent_p.F619F	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	677	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TGGGCCAGTTCGACCATCCCA	0.567000														25			5		0	0	0.000602	0	0
SLC28A1	9154	broad.mit.edu	37	15	85461778	85461778	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:85461778C>T	uc002blg.3	+	9	1021	c.819C>T	c.(817-819)ttC>ttT	p.F273F	SLC28A1_uc010upd.1_Silent_p.F195F|SLC28A1_uc010bnb.3_Silent_p.F273F|SLC28A1_uc010upe.2_Silent_p.F273F|SLC28A1_uc010upf.1_Silent_p.F273F|SLC28A1_uc010upg.1_Silent_p.F273F	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	273					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.F273L(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGTCTTTTTCAGCTGTGTCA	0.597000														102			22		0	0	0.005443	0	0
AHNAK	79026	broad.mit.edu	37	11	62296060	62296060	+	Silent	SNP	C	A	A	rs601430		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:62296060C>A	uc001ntl.3	-	4	6129	c.5829G>T	c.(5827-5829)tcG>tcT	p.S1943S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1943					nervous system development	nucleus	protein binding	p.S1943S(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTTGGCACCGACACATCCA	0.512000														155			6		0.00198382	0.00301827	0.001984	1	0
ZNF488	118738	broad.mit.edu	37	10	48371305	48371305	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:48371305C>T	uc001jex.3	+	1	935	c.773C>T	c.(772-774)tCg>tTg	p.S258L	ZNF488_uc021ppx.1_Missense_Mutation_p.S258L	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TCCACCACTTCGTGGGCCCTC	0.612000														21			17		0	0	0.007413	0	0
TP63	8626	broad.mit.edu	37	3	189608665	189608665	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:189608665C>T	uc003fry.2	+	12	1829	c.1740C>T	c.(1738-1740)tcC>tcT	p.S580S	TP63_uc003frz.2_Intron|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.S486S|TP63_uc003fsd.2_Intron|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Silent_p.S401S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	580	SAM.		S -> P (in EDRH).		DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCATTACTCCATGGATGTAA	0.418000										HNSCC(45;0.13)				32			24		0	0	0.002780	0	0
FLG2	388698	broad.mit.edu	37	1	152328226	152328226	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152328226G>A	uc001ezw.4	-	2	2109	c.2036C>T	c.(2035-2037)tCt>tTt	p.S679F	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	679	Ser-rich.						calcium ion binding|structural molecule activity	p.S678S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAACCAGAGGATTGTCC	0.483000														140			69		0	0	0.003610	0	0
CYP4A11	1579	broad.mit.edu	37	1	47399661	47399661	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:47399661G>A	uc001cqp.4	-	8	1230	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	CYP4A11_uc001cqq.2_Silent_p.L393L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	393					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CGGGAGTGCTGAGCTCTCTGC	0.577000														20			16		0	0	0.004990	0	0
SLC12A1	6557	broad.mit.edu	37	15	48539590	48539590	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:48539590G>A	uc001zwn.4	+	12	1833	c.1617G>A	c.(1615-1617)ggG>ggA	p.G539G	SLC12A1_uc010uew.1_Silent_p.G345G|SLC12A1_uc010bem.3_Silent_p.G539G|SLC12A1_uc001zwq.4_Silent_p.G310G|SLC12A1_uc001zwr.4_Silent_p.G266G	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	539					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGGGATATGGGAAAAACAATG	0.348000														28			12		0	0	0.001368	0	0
SSPO	23145	broad.mit.edu	37	7	149498885	149498885	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:149498885C>T	uc010lpk.3	+	49	7328	c.7328C>T	c.(7327-7329)cCc>cTc	p.P2443L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2446					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCACTGTGCCCTTCATGATG	0.597000														13			13		0	0	0.003163	0	0
DOCK1	1793	broad.mit.edu	37	10	129242485	129242485	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:129242485C>T	uc010qun.2	+	49	5419	c.5355C>T	c.(5353-5355)tcC>tcT	p.S1785S	DOCK1_uc001ljt.3_Silent_p.S1764S|DOCK1_uc009yaq.3_Missense_Mutation_p.P764S	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1764					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CACCGTCCTCCCAGCAAACAC	0.577000														10			3		0	0	0.000248	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979744	12979744	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:12979744C>T	uc001aup.3	+	3	1019	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	312												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCATCTCTCTTGGTGCC	0.567000														62			9		0	0	0.008291	0	0
DSCAM	1826	broad.mit.edu	37	21	42080515	42080515	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:42080515G>A	uc002yyq.1	-	1	678	c.226C>T	c.(226-228)Cac>Tac	p.H76Y	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	76	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGTTGGGGTGGACGTGGCGG	0.542000														45			32		0	0	0.008361	0	0
KIAA1467	57613	broad.mit.edu	37	12	13215833	13215833	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:13215833C>G	uc001rbi.3	+	4	799	c.776C>G	c.(775-777)gCc>gGc	p.A259G	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	259						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		ACCTTGGCTGCCCCAGTTGTG	0.468000														75			7		0	0	0.004482	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857170	9857170	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:9857170A>C	uc010uym.2	-	13	4541	c.4231T>G	c.(4231-4233)Tac>Gac	p.Y1411D	GRIN2A_uc002czo.4_Missense_Mutation_p.Y1411D|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1411					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGAACAGTACGATGCCGTT	0.502000														22			30		0	0	0.001786	0	0
DMBT1	1755	broad.mit.edu	37	10	124345579	124345579	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:124345579C>T	uc001lgk.1	+	15	1569	c.1463C>T	c.(1462-1464)tCt>tTt	p.S488F	DMBT1_uc001lgl.1_Missense_Mutation_p.S478F|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.S488F|DMBT1_uc021qag.1_Missense_Mutation_p.S478F|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.S488F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	488					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCTGTAGGATCTGAATCCAGT	0.527000														117			112		0	0	0.003610	0	0
PLD2	5338	broad.mit.edu	37	17	4725982	4725982	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:4725982C>T	uc002fzc.3	+	24	2751	c.2625C>T	c.(2623-2625)ctC>ctT	p.L875L	PLD2_uc002fzd.3_Silent_p.L864L	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	875					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TGCGGACTCTCCGGGAGTACG	0.657000														17			27		0	0	0.002445	0	0
ZNF643	65243	broad.mit.edu	37	1	40928671	40928671	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:40928671G>A	uc001cfn.2	+	4	1312	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	ZNF643_uc001cfl.2_Missense_Mutation_p.E237K|ZNF643_uc001cfm.2_Missense_Mutation_p.E205K	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			TGAATGTAAGGAGTGTGGGAA	0.413000														24			19		0	0	0.008871	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814196	106814196	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:106814196C>T	uc003ymd.3	+	7	1909	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	ZFPM2_uc011lhs.2_Missense_Mutation_p.S360F	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	629					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S628C(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATCAATTCTTCCACTGTCTTA	0.443000														35			20		0	0	0.001523	0	0
FMR1	2332	broad.mit.edu	37	X	147019652	147019652	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:147019652C>T	uc010nst.3	+	11	1389	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	FMR1_uc004fcj.3_Intron|FMR1_uc022cgc.1_Missense_Mutation_p.S387F|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Intron|FMR1_uc022cge.1_Intron|FMR1_uc022cgf.1_Intron|FMR1_uc022cgg.1_Intron|FMR1_uc004fcl.4_Intron|FMR1_uc011mxa.2_Intron	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	387					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGGAATCCCAGAAACCT	0.383000									Fragile X syndrome					39			65		0	0	0.003610	0	0
LIPI	149998	broad.mit.edu	37	21	15558358	15558358	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:15558358G>A	uc002yjm.3	-	2	538	c.528C>T	c.(526-528)ttC>ttT	p.F176F	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.F155F|LIPI_uc021whh.1_Silent_p.F155F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.F155F|LIPI_uc021whe.1_Silent_p.F155F|LIPI_uc021whf.1_Silent_p.F155F	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	155					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCACACCTATGAAATGAAAAT	0.328000														62			45		0	0	0.003610	0	0
C16orf62	57020	broad.mit.edu	37	16	19648960	19648960	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:19648960C>T	uc002dgn.2	+	19	1995	c.1680C>T	c.(1678-1680)ttC>ttT	p.F560F	C16orf62_uc002dgo.2_Silent_p.F582F|C16orf62_uc002dgp.2_Silent_p.F309F	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	560						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCCATGACTTCTCAGTTCTTT	0.289000														33			16		0	0	0.001882	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159264	118159264	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:118159264G>A	uc003yoh.3	+	1	373	c.143G>A	c.(142-144)gGa>gAa	p.G48E	SLC30A8_uc010mcz.3_5'UTR|SLC30A8_uc003yog.3_5'UTR|SLC30A8_uc011lia.2_5'UTR|SLC30A8_uc022bab.1_5'UTR	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	48					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CTGGAGTCAGGAGGCATGTAC	0.507000														164			112		0	0	0.003610	0	0
IRS1	3667	broad.mit.edu	37	2	227662073	227662073	+	Missense_Mutation	SNP	T	C	C	rs138145752		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:227662073T>C	uc021vxn.1	-	0	1382	c.1382A>G	c.(1381-1383)gAg>gGg	p.E461G	IRS1_uc002voh.4_Missense_Mutation_p.E461G	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	461					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.E461*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTTGCTTAGCTCCTCCTCACC	0.622000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			24		0	0	0.006320	0	0
CRK	1398	broad.mit.edu	37	17	1340235	1340235	+	Silent	SNP	G	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:1340235G>C	uc002fsl.3	-	1	606	c.456C>G	c.(454-456)ccC>ccG	p.P152P	CRK_uc002fsm.3_Silent_p.P152P	NM_016823	NP_058431	P46108	CRK_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian) (CRK), transcript variant II, mRNA.	152	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	SH2 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CTTTCTTAAAGGGAAGATCTT	0.522000														61			23		0	0	0.002299	0	0
FAM118A	55007	broad.mit.edu	37	22	45726532	45726532	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:45726532C>T	uc003bfz.4	+	5	1187	c.571C>T	c.(571-573)Cac>Tac	p.H191Y	FAM118A_uc003bga.4_Missense_Mutation_p.H191Y|FAM118A_uc011aqr.2_Missense_Mutation_p.H9Y	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	191						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CCTCCACATTCACGGCCTCTA	0.522000														32			30		0	0	0.002445	0	0
ASXL1	171023	broad.mit.edu	37	20	31023033	31023033	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:31023033C>T	uc021wbw.1	+	12	2950	c.2518C>T	c.(2518-2520)Cct>Tct	p.P840S	ASXL1_uc002wxs.3_Missense_Mutation_p.P839S|ASXL1_uc010geb.3_Missense_Mutation_p.P731S	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	840					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TATGAAGGATCCTGTAAATGT	0.498000			"""F, N, Mis"""		"""MDS, CMML"""									224			34		0	0	0.006999	0	0
PDZRN3	23024	broad.mit.edu	37	3	73453318	73453318	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:73453318G>A	uc003dpl.1	-	3	1243	c.1147C>T	c.(1147-1149)Ccc>Tcc	p.P383S	PDZRN3_uc011bgh.1_Missense_Mutation_p.P40S|PDZRN3_uc010hoe.1_Missense_Mutation_p.P81S|PDZRN3_uc011bgf.1_Missense_Mutation_p.P100S|PDZRN3_uc011bgg.1_Missense_Mutation_p.P103S	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	383							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AAGAGATAGGGATCCAGCACG	0.463000														9			19		0	0	0.002780	0	0
THBS1	7057	broad.mit.edu	37	15	39885345	39885345	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:39885345C>T	uc001zkh.3	+	17	3091	c.2912C>T	c.(2911-2913)tCc>tTc	p.S971F	THBS1_uc010bbi.3_Missense_Mutation_p.S443F	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	971	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	AAAGGGACATCCCAAAATGAC	0.502000														19			12		0	0	0.001855	0	0
POTEF	728378	broad.mit.edu	37	2	130832282	130832282	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:130832282C>T	uc010fmh.2	-	16	3163	c.2763G>A	c.(2761-2763)ctG>ctA	p.L921L		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	921	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCTCGAAGTCCAGGGCAACAT	0.582000														30			13		0	0	0.001882	0	0
POTEG	404785	broad.mit.edu	37	14	19573100	19573100	+	Splice_Site	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:19573100G>T	uc001vuz.1	+	8	1250	c.1198_splice	c.e8-1	p.E400_splice	POTEG_uc001vva.1_Splice_Site|POTEG_uc010ahc.1_Splice_Site	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	400										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCATCTGCAGGAAATGTCTCA	0.284000														64			9		1.05317e-09	1.60992e-09	0.002450	1	0
CHMP1A	5119	broad.mit.edu	37	16	89715875	89715875	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:89715875G>A	uc002fnu.3	-	3	269	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	CHMP1A_uc002fnt.3_5'Flank|CHMP1A_uc002fnv.3_Missense_Mutation_p.P39L	NM_002768	NP_002759	Q9HD42	CHM1A_HUMAN	Homo sapiens charged multivesicular body protein 1A (CHMP1A), transcript variant 2, mRNA.	46					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GCATACACACGGGCACACTCT	0.592000														17			7		0	0	0.001984	0	0
PCDH7	5099	broad.mit.edu	37	4	30725411	30725411	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:30725411C>T	uc003gsk.1	+	0	3375	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	PCDH7_uc011bxx.2_Silent_p.F789F|PCDH7_uc021xnd.1_Silent_p.F789F|PCDH7_uc021xnc.1_Silent_p.F789F	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	789	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAATCCCTTCAAGCTGTTTG	0.463000														28			7		0	0	0.001984	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299536	112299536	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:112299536C>T	uc003dze.3	+	5	817	c.572C>T	c.(571-573)tCc>tTc	p.S191F		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	191						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CCTTCCAATTCCTGCCTTCTT	0.443000														53			10		0	0	0.002450	0	0
HCN1	348980	broad.mit.edu	37	5	45262779	45262779	+	Silent	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:45262779G>T	uc003jok.3	-	7	1942	c.1917C>A	c.(1915-1917)atC>atA	p.I639I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	639						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAGGATAATTGATGGGAGCGA	0.498000														50			33		1.69901e-12	2.60402e-12	0.005524	1	0
ACSM2A	123876	broad.mit.edu	37	16	20482538	20482538	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:20482538G>A	uc010bwe.3	+	6	979	c.740_splice	c.e6+1	p.G247_splice	ACSM2A_uc010bwd.1_Splice_Site|ACSM2A_uc010vax.1_Splice_Site_p.G168_splice|ACSM2A_uc002dhf.4_Splice_Site_p.G247_splice|ACSM2A_uc002dhg.4_Splice_Site_p.G247_splice|ACSM2A_uc010vay.2_Splice_Site_p.G168_splice	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	247					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ATGGATGCTGGGTAAGCTGAG	0.483000														24			23		0	0	0.007291	0	0
MUC16	94025	broad.mit.edu	37	19	8996474	8996474	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:8996474C>T	uc002mkp.3	-	60	41302	c.41098G>A	c.(41098-41100)Gcc>Acc	p.A13700T	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.A517T|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13702	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCCAGTGGCTGTCCCATCC	0.547000														13			12		0	0	0.001855	0	0
GJA8	2703	broad.mit.edu	37	1	147380438	147380438	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:147380438G>A	uc021ovm.1	+	0	356	c.356G>A	c.(355-357)gGg>gAg	p.G119E	GJA8_uc001epu.2_Missense_Mutation_p.G119E	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	119					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CAGCAGGCGGGGACTAACGGC	0.662000														29			11		0	0	0.001368	0	0
AMPD1	270	broad.mit.edu	37	1	115218250	115218250	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:115218250C>T	uc001efe.2	-	11	1727	c.1679G>A	c.(1678-1680)aGt>aAt	p.S560N	AMPD1_uc001eff.2_Missense_Mutation_p.S556N	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	527					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GGGCTTGGGACTCTTGGAGGA	0.468000														50			71		0	0	0.003610	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77334242	77334242	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:77334242C>T	uc002ffc.4	-	16	3011	c.2592G>A	c.(2590-2592)atG>atA	p.M864I	ADAMTS18_uc010chc.1_Missense_Mutation_p.M452I|ADAMTS18_uc002ffe.1_Missense_Mutation_p.M560I	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	864	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGTTCCATTCATGACCTTGG	0.453000														25			11		0	0	0.001855	0	0
TSSC4	10078	broad.mit.edu	37	11	2424460	2424460	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:2424460C>T	uc021qcg.1	+	0	597	c.597C>T	c.(595-597)tcC>tcT	p.S199S	TSSC4_uc001lwi.3_Silent_p.S135S|TSSC4_uc001lwk.3_Silent_p.S199S|TSSC4_uc001lwl.3_Silent_p.S199S	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA.	199										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGCGTGTCCTCCTTCAACC	0.642000														71			126		0	0	0.003610	0	0
SENP2	59343	broad.mit.edu	37	3	185341799	185341799	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:185341799G>A	uc003fpn.3	+	14	1711	c.1540G>A	c.(1540-1542)Gat>Aat	p.D514N	SENP2_uc011brv.2_Missense_Mutation_p.D504N|SENP2_uc011brw.2_Missense_Mutation_p.D327N	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	514	Protease.				Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GTATTTACAGGATGAAAGTAA	0.348000														124			98		0	0	0.003610	0	0
NRG1	3084	broad.mit.edu	37	8	32621649	32621649	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:32621649A>C	uc003xiv.2	+	11	2169	c.1652A>C	c.(1651-1653)aAg>aCg	p.K551T	NRG1_uc022ats.1_Missense_Mutation_p.K501T|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.K556T|NRG1_uc003xiw.2_Missense_Mutation_p.K548T|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.K293T|NRG1_uc010lvs.2_Missense_Mutation_p.K293T|NRG1_uc010lvp.2_Missense_Mutation_p.K505T|NRG1_uc010lvq.2_Missense_Mutation_p.K481T|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.K394T|NRG1_uc003xja.2_Missense_Mutation_p.K362T	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	551					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AAAAGAACCAAGCCCAATGGC	0.498000														15			8		0	0	0.003080	0	0
MYH11	4629	broad.mit.edu	37	16	15835746	15835746	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:15835746C>T	uc002ddx.3	-	21	2651	c.2544G>A	c.(2542-2544)gtG>gtA	p.V848V	MYH11_uc002ddv.3_Silent_p.V848V|MYH11_uc002ddw.3_Silent_p.V841V|MYH11_uc002ddy.3_Silent_p.V841V|MYH11_uc010bvg.3_Silent_p.V673V	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	841					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCAGTGGCTTCACCTGCACAC	0.522000			T	CBFB	AML									17			19		0	0	0.007413	0	0
DSP	1832	broad.mit.edu	37	6	7579988	7579988	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:7579988G>A	uc003mxp.1	+	22	3844	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K	DSP_uc003mxq.1_Missense_Mutation_p.E1189K|DSP_uc021yle.1_Missense_Mutation_p.E1189K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1189	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGAGAATATGAAAATGAGCT	0.408000														20			5		0	0	0.001168	0	0
POLQ	10721	broad.mit.edu	37	3	121207049	121207049	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:121207049G>A	uc003eee.4	-	15	4858	c.4729C>T	c.(4729-4731)Cct>Tct	p.P1577S	POLQ_uc003eed.3_Missense_Mutation_p.P749S	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1577					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCTTGGACAGGAAATATATCC	0.393000								DNA polymerases (catalytic subunits)						45			15		0	0	0.004007	0	0
ZFP57	346171	broad.mit.edu	37	6	29640996	29640996	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:29640996G>A	uc011dlw.2	-	3	1043	c.892C>T	c.(892-894)Cca>Tca	p.P298S		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	214					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TGGGTGCCTGGAATCCTCAAA	0.562000														141			45		0	0	0.003610	0	0
DNAH7	56171	broad.mit.edu	37	2	196723507	196723507	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:196723507C>T	uc002utj.4	-	42	7859	c.7758G>A	c.(7756-7758)aaG>aaA	p.K2586K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2586	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTCATATCTCTTTTTCATTT	0.373000														33			27		0	0	0.006320	0	0
MAML3	55534	broad.mit.edu	37	4	140811492	140811492	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:140811492G>A	uc021xsg.1	-	1	1850	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	366					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGACATGTGCGAAGGGAGAGT	0.562000														53			37		0	0	0.005524	0	0
CDHR2	54825	broad.mit.edu	37	5	176004637	176004637	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:176004637G>A	uc021yie.1	+	14	1625	c.1351_splice	c.e14-1	p.V451_splice	CDHR2_uc003mem.2_Splice_Site_p.V451_splice|CDHR2_uc003men.1_Splice_Site_p.V451_splice	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	451	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTGCCCCCAGGTTGTGGCCA	0.652000														13			16		0	0	0.004990	0	0
TRIM42	287015	broad.mit.edu	37	3	140397172	140397172	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:140397172A>G	uc003eto.2	+	0	307	c.101A>G	c.(100-102)gAg>gGg	p.E34G		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	34	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCACCTCAGAGCGGAACTGC	0.522000														68			75		0	0	0.003610	0	0
GPR26	2849	broad.mit.edu	37	10	125434403	125434403	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:125434403C>T	uc001lhh.3	+	1	791	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	246					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TCAGCACCTTCATAGGGACCT	0.562000														16			11		0	0	0.000978	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48807923	48807923	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:48807923C>T	uc002rwp.2	+	1	265	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.P51S|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.P51S|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.P51S|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.P51S	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	51					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGGGAATTTCCCAGTGGATC	0.463000														32			27		0	0	0.003954	0	0
SAMD9	54809	broad.mit.edu	37	7	92731534	92731534	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:92731534G>A	uc003umf.3	-	2	4147	c.3877C>T	c.(3877-3879)Cgg>Tgg	p.R1293W	SAMD9_uc003umg.3_Missense_Mutation_p.R1293W|SAMD9_uc022ahg.1_Missense_Mutation_p.R1293W	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1293						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACCTTTCTCCGAGTTTTGGCC	0.333000														60			16		0	0	0.004990	0	0
DNAH8	1769	broad.mit.edu	37	6	38743720	38743720	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:38743720G>C	uc021yzh.1	+	12	2064	c.1955G>C	c.(1954-1956)gGt>gCt	p.G652A	DNAH8_uc003ooe.2_Missense_Mutation_p.G435A	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAAATCAATGGTTTAGAGGTA	0.308000														189			27		0	0	0.005443	0	0
FLG	2312	broad.mit.edu	37	1	152279060	152279060	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152279060C>T	uc001ezu.1	-	2	8338	c.8302G>A	c.(8302-8304)Gag>Aag	p.E2768K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2768	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCTGCTCATGGCGGGAT	0.582000									Ichthyosis					413			53		0	0	0.003610	0	0
MMP11	4320	broad.mit.edu	37	22	24125724	24125724	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:24125724T>C	uc002zxx.3	+	7	1482	c.1460T>C	c.(1459-1461)tTc>tCc	p.F487S	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	487					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GCCAACACTTTCCTCTGACCA	0.587000														45			25		0	0	0.001786	0	0
MUC16	94025	broad.mit.edu	37	19	9087904	9087904	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9087904G>A	uc002mkp.3	-	0	4115	c.3911C>T	c.(3910-3912)tCa>tTa	p.S1304L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1304	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S1304L(3)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CATCTCAGGTGAAGACCCAGA	0.493000														15			23		0	0	0.001882	0	0
RNF217	154214	broad.mit.edu	37	6	125379091	125379091	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:125379091C>T	uc003pzr.3	+	2	949	c.415C>T	c.(415-417)Cag>Tag	p.Q139*	RNF217_uc003pzs.3_Nonsense_Mutation_p.Q82*|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	82					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		TACACAGATCCAGTGCCCTAC	0.383000														8			28		0	0	0.006320	0	0
ATP9A	10079	broad.mit.edu	37	20	50235499	50235499	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:50235499G>A	uc002xwg.1	-	19	2199	c.2199C>T	c.(2197-2199)tcC>tcT	p.S733S	ATP9A_uc010gih.1_Silent_p.S597S|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	733					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACCTCCAGGGAGTCTCCCG	0.652000														31			29		0	0	0.004878	0	0
TRHR	7201	broad.mit.edu	37	8	110131462	110131462	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:110131462G>A	uc003ymz.4	+	1	1064	c.975G>A	c.(973-975)caG>caA	p.Q325Q		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	325						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCATGTCCCAGAAATTCCGTG	0.443000														64			6		0	0	0.003080	0	0
HTR2C	3358	broad.mit.edu	37	X	114141243	114141243	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:114141243C>T	uc004epu.1	+	5	1370	c.642C>T	c.(640-642)ttC>ttT	p.F214F	HTR2C_uc010nqc.1_Silent_p.F214F|HTR2C_uc004epv.1_Missense_Mutation_p.R183C	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	214					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACCCAAATTTCGTTCTTATTG	0.468000														77			119		0	0	0.003610	0	0
TMEM214	54867	broad.mit.edu	37	2	27258870	27258870	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:27258870C>T	uc002ria.4	+	4	780	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	TMEM214_uc002rib.4_Nonsense_Mutation_p.Q179*	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	224						integral to membrane	protein binding	p.I223I(1)|p.Q224Q(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CATCTGTATCCAGGCCATCCT	0.517000														32			9		0	0	0.006214	0	0
MMP3	4314	broad.mit.edu	37	11	102709901	102709901	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:102709901G>A	uc001phj.1	-	6	1074	c.1009C>T	c.(1009-1011)Cct>Tct	p.P337S	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	337	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ACGCCTGAAGGAAGAGATGGC	0.363000														23			32		0	0	0.005524	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392573	22392573	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:22392573C>T	uc010aiz.2	+	1	171	c.96C>T	c.(94-96)ttC>ttT	p.F32F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_5'Flank					SubName: Full=HADV14S1; Flags: Fragment;																		CAGGAATGTTCGTGCAGGAAA	0.443000														8			22		0	0	0.002299	0	0
GABRG1	2565	broad.mit.edu	37	4	46043230	46043230	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:46043230C>T	uc003gxb.3	-	8	1325	c.1173G>A	c.(1171-1173)atG>atA	p.M391I		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	391					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAATATTATTCATTGGAATCA	0.393000														30			12		0	0	0.002450	0	0
COL6A3	1293	broad.mit.edu	37	2	238274452	238274452	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:238274452C>T	uc002vwl.2	-	11	6012	c.5727G>A	c.(5725-5727)gaG>gaA	p.E1909E	COL6A3_uc002vwo.2_Silent_p.E1703E|COL6A3_uc010znj.1_Silent_p.E1302E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1909	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCTCGAGCATCTCTGGCTGGT	0.637000														26			23		0	0	0.001882	0	0
LTBP1	4052	broad.mit.edu	37	2	33622339	33622339	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:33622339G>A	uc021vft.1	+	32	4997	c.4974G>A	c.(4972-4974)atG>atA	p.M1658I	LTBP1_uc002rou.3_Missense_Mutation_p.M1332I|LTBP1_uc002rov.3_Missense_Mutation_p.M1279I|LTBP1_uc010ymz.2_Missense_Mutation_p.M1290I|LTBP1_uc010yna.2_Missense_Mutation_p.M1237I|LTBP1_uc010ynb.2_Missense_Mutation_p.M556I	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1658					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGGCCAAGATGACCTGTGTCG	0.453000														62			9		0	0	0.006214	0	0
AMICA1	120425	broad.mit.edu	37	11	118083243	118083243	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:118083243G>A	uc001psk.2	-	2	251	c.77C>T	c.(76-78)tCc>tTc	p.S26F	AMICA1_uc001psh.2_5'UTR|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Missense_Mutation_p.S16F|AMICA1_uc010rxw.1_5'UTR|AMICA1_uc010rxx.1_Missense_Mutation_p.S26F|AMICA1_uc001psl.1_Intron	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	26	Ig-like V-type 1.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTCAGGCGGGGAAACATTCAA	0.413000														8			24		0	0	0.004656	0	0
ABCG8	64241	broad.mit.edu	37	2	44102291	44102292	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:44102291_44102292GG>TT	uc002rtq.3	+	10	1585_1586	c.1495_1496GG>TT	c.(1495-1497)ggg>TTg	p.G499L	ABCG8_uc010yoa.2_Missense_Mutation_p.G498L	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	499	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCAGATCCTCGGGGAGCTTCCG	0.545000														251			6		0	0	0.004672	0	0
PRDM9	56979	broad.mit.edu	37	5	23524611	23524611	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:23524611G>A	uc003jgo.3	+	9	1301	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	373					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.W373*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCAGCAAGTGGAAGAAAGAGC	0.463000										HNSCC(3;0.000094)				64			26		0	0	0.006320	0	0
GCDH	2639	broad.mit.edu	37	19	13007225	13007226	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:13007225_13007226CC>TT	uc002mvq.3	+	7	919_920	c.842_843CC>TT	c.(841-843)tcc>tTT	p.S281F	GCDH_uc010xms.2_Missense_Mutation_p.S248F|GCDH_uc002mvp.3_Missense_Mutation_p.S281F|GCDH_uc010xmt.2_Missense_Mutation_p.S115F|GCDH_uc010xmu.2_Missense_Mutation_p.S237F	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	281					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						CCTGGTGCATCCAGCCTGGGGG	0.634000														2			9		0	0	0.004672	0	0
DNAH8	1769	broad.mit.edu	37	6	38773361	38773361	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:38773361G>A	uc021yzh.1	+	22	3248	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	DNAH8_uc003ooe.2_Missense_Mutation_p.E830K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAAAGAAGATGAATTTAAAAA	0.343000														32			14		0	0	0.001855	0	0
MORC1	27136	broad.mit.edu	37	3	108818259	108818259	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:108818259C>T	uc003dxl.3	-	5	456	c.369G>A	c.(367-369)acG>acA	p.T123T	MORC1_uc011bhn.2_Silent_p.T123T	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	123					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACAGGTCATCGTTTCTTCCT	0.343000														37			9		0	0	0.001368	0	0
PCP4	5121	broad.mit.edu	37	21	41301006	41301006	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:41301006C>T	uc002yyp.3	+	2	240	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_006198	NP_006189	P48539	PCP4_HUMAN	Homo sapiens Purkinje cell protein 4 (PCP4), mRNA.	53	IQ.				central nervous system development	cytosol|nucleus		p.F53L(2)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				TCAGAAAATTCCAGAAGAAGA	0.448000														30			13		0	0	0.003163	0	0
HEPH	9843	broad.mit.edu	37	X	65486329	65486329	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:65486329A>T	uc011moz.2	+	20	3591	c.3454A>T	c.(3454-3456)Atg>Ttg	p.M1152L	HEPH_uc004dwn.3_Missense_Mutation_p.M1100L|HEPH_uc004dwo.3_Missense_Mutation_p.M831L|HEPH_uc010nkr.3_Missense_Mutation_p.M909L|HEPH_uc011mpa.2_Missense_Mutation_p.M1101L	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1098					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GATGCTGGGCATGCAGATCCC	0.483000														16			31		0	0	0.003271	0	0
IARS2	55699	broad.mit.edu	37	1	220315224	220315224	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:220315224C>T	uc001hmc.3	+	19	2598	c.2494C>T	c.(2494-2496)Cgt>Tgt	p.R832C		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	832					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAATAGTTCGTTCTTTTGC	0.378000														51			20		0	0	0.008871	0	0
ABCA6	23460	broad.mit.edu	37	17	67075408	67075408	+	Splice_Site	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:67075408T>G	uc002jhw.1	-	38	4872	c.4697_splice	c.e38-1	p.V1566_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1566					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TATGCTTCACTGGAGGAAAAA	0.299000														44			14		0	0	0.004990	0	0
SLC39A5	283375	broad.mit.edu	37	12	56625278	56625278	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:56625278C>T	uc010sqj.2	+	3	477	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	SLC39A5_uc010sqi.2_5'UTR|SLC39A5_uc010sqk.2_Missense_Mutation_p.R74C	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 5 (SLC39A5), transcript variant 1, mRNA.	74					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCAGGGGCTTCGCCTGGGACA	0.652000														38			23		0	0	0.001882	0	0
HRSP12	10247	broad.mit.edu	37	8	99118530	99118530	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:99118530G>A	uc003yii.1	-	2	290	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L		NM_005836	NP_005827	P52758	UK114_HUMAN	Homo sapiens heat-responsive protein 12 (HRSP12), mRNA.	66					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GCAGCTTTCAGAATTTCACCC	0.323000														56			41		0	0	0.003610	0	0
CENPE	1062	broad.mit.edu	37	4	104065637	104065637	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:104065637C>T	uc003hxb.1	-	32	5086	c.4996G>A	c.(4996-4998)Gag>Aag	p.E1666K	CENPE_uc003hxc.1_Missense_Mutation_p.E1641K	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1666					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CTTATATTCTCCGTTTCTATG	0.388000														76			49		0	0	0.003610	0	0
CUBN	8029	broad.mit.edu	37	10	17157520	17157520	+	Missense_Mutation	SNP	G	C	C	rs143120669	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:17157520G>C	uc001ioo.3	-	6	722	c.670C>G	c.(670-672)Cgc>Ggc	p.R224G		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	224					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R224C(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGACACAGCGTGCCACAGAA	0.532000														21			24		0	0	0.002780	0	0
XIRP2	129446	broad.mit.edu	37	2	168103996	168103996	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:168103996C>T	uc002udx.3	+	8	6183	c.6094C>T	c.(6094-6096)Cgt>Tgt	p.R2032C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1857C|XIRP2_uc010fpq.3_Missense_Mutation_p.R1810C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1857					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTCATAGATCGTGAACAAAA	0.388000														13			10		0	0	0.002450	0	0
RGS7	6000	broad.mit.edu	37	1	240979694	240979694	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:240979694C>T	uc001hyt.2	-	3	256	c.202G>A	c.(202-204)Gat>Aat	p.D68N	RGS7_uc010pyh.2_Missense_Mutation_p.D210N|RGS7_uc010pyj.1_Missense_Mutation_p.D152N|RGS7_uc001hyu.2_Missense_Mutation_p.D236N|RGS7_uc009xgn.1_Missense_Mutation_p.D183N|RGS7_uc001hyv.2_Missense_Mutation_p.D236N|RGS7_uc001hyw.2_Missense_Mutation_p.D236N	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	236	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			CTTCTAATATCATTTTGTAAA	0.353000														57			37		0	0	0.004878	0	0
GRM7	2917	broad.mit.edu	37	3	7620396	7620396	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:7620396G>A	uc003bqm.2	+	7	2077	c.1803G>A	c.(1801-1803)ggG>ggA	p.G601G	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.G601G|GRM7_uc003bql.2_Silent_p.G601G|GRM7_uc003bqn.1_Silent_p.G184G|GRM7_uc010hch.1_Silent_p.G112G	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	601					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.G601G(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CAATGTTGGGGATCATTGCCA	0.532000														68			11		0	0	0.000978	0	0
CACNA1S	779	broad.mit.edu	37	1	201046074	201046074	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:201046074G>A	uc001gvv.3	-	11	2028	c.1801C>T	c.(1801-1803)Ccc>Tcc	p.P601S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	601					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	agggCTTGGGGAAAGTTGTCA	0.537000														58			26		0	0	0.007291	0	0
FAT3	120114	broad.mit.edu	37	11	92085391	92085391	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:92085391C>T	uc001pdj.4	+	0	130	c.113C>T	c.(112-114)cCc>cTc	p.P38L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	38					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGGACTGGACCCCTGGGCTTC	0.547000										TCGA Ovarian(4;0.039)				156			202		0	0	0.003610	0	0
LRRC43	254050	broad.mit.edu	37	12	122674858	122674858	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:122674858G>A	uc009zxm.3	+	4	869	c.844G>A	c.(844-846)Gac>Aac	p.D282N	LRRC43_uc001ubw.4_Missense_Mutation_p.D97N|LRRC43_uc009zxn.3_Missense_Mutation_p.D43N	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	282	LRRCT.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CGTGCTGGACGACATCACCGT	0.642000														30			11		0	0	0.008291	0	0
FLG	2312	broad.mit.edu	37	1	152286754	152286754	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152286754C>T	uc001ezu.1	-	2	644	c.608G>A	c.(607-609)aGa>aAa	p.R203K	AK056431_uc001ezv.3_Intron	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	203					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.E202*(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTCAAGTCTTTCACTTAG	0.323000									Ichthyosis					32			20		0	0	0.001523	0	0
SPOCK2	9806	broad.mit.edu	37	10	73830155	73830155	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:73830155C>T	uc001jso.2	-	4	834	c.389G>A	c.(388-390)gGa>gAa	p.G130E	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Missense_Mutation_p.G130E	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	130	Kazal-like.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GTCTTTGTTTCCATGGAGTTT	0.602000														31			13		0	0	0.003163	0	0
PTPRT	11122	broad.mit.edu	37	20	40713401	40713401	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:40713401G>A	uc002xkg.3	-	28	4241	c.4057C>T	c.(4057-4059)Ctg>Ttg	p.L1353L	PTPRT_uc010ggj.3_Silent_p.L1372L|PTPRT_uc010ggi.3_Silent_p.L556L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1353	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACTTTGAGCAGAGAGCGCTTG	0.592000														41			10		0	0	0.006214	0	0
TAS1R2	80834	broad.mit.edu	37	1	19180918	19180918	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:19180918G>A	uc001bba.1	-	2	1047	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	349					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCTGCTGAGGGGTGGCGGCCC	0.637000														14			14		0	0	0.004007	0	0
LY6G5C	80741	broad.mit.edu	37	6	31646916	31646917	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31646916_31646917GG>TT	uc003nvu.2	-	1	250_251	c.250_251CC>AA	c.(250-252)cca>AAa	p.P84K	LY6G5C_uc003nvw.1_Non-coding_Transcript|LY6G5C_uc010jtb.1_Non-coding_Transcript	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G5C (LY6G5C), mRNA.	84	UPAR/Ly6.					extracellular region		p.P81Q(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GCTGCCAGCTGGGGTGAGGCAG	0.559000														820			10		0	0	0.004672	0	0
OR2J3	442186	broad.mit.edu	37	6	29080401	29080401	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:29080401G>A	uc011dll.2	+	0	734	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GGAACATGTGGAGCTCATCTT	0.463000														70			33		0	0	0.004289	0	0
CCDC141	285025	broad.mit.edu	37	2	179720995	179720995	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179720995C>T	uc002une.2	-	17	2972	c.2854G>A	c.(2854-2856)Gaa>Aaa	p.E952K	CCDC141_uc002unf.1_Missense_Mutation_p.E431K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	377							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGCATTTTTTCAGCATACATA	0.294000														31			32		0	0	0.004878	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37470658	37470658	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:37470658C>T	uc003aqt.1	-	11	1495	c.1433G>A	c.(1432-1434)aGa>aAa	p.R478K	TMPRSS6_uc003aqs.1_Missense_Mutation_p.R487K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	487	LDL-receptor class A 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						ACCGCAGTTTCTCTCATCCAG	0.597000														23			14		0	0	0.002450	0	0
DGKK	139189	broad.mit.edu	37	X	50134557	50134557	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:50134557G>A	uc010njr.2	-	10	1766	c.1722C>T	c.(1720-1722)atC>atT	p.I574I		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	574	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTCCAAGTGGGATGACTGCCA	0.512000														11			24		0	0	0.004656	0	0
TJP1	7082	broad.mit.edu	37	15	30026535	30026536	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:30026535_30026536GG>AT	uc001zcr.3	-	11	1933_1934	c.1458_1459CC>AT	c.(1456-1461)ttcctg>ttATtg	p.F486L	TJP1_uc010azl.3_Missense_Mutation_p.F474L|TJP1_uc001zcq.3_Missense_Mutation_p.F490L|TJP1_uc001zcs.3_Missense_Mutation_p.F486L	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	486	PDZ 3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGGTCAAGCAGGAAAAGGACGG	0.361000														30			12		0	0	0.004672	0	0
OR10T2	128360	broad.mit.edu	37	1	158368870	158368870	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158368870G>A	uc010pih.2	-	0	387	c.387C>T	c.(385-387)caC>caT	p.H129H		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					ACCTCAGAGGGTGACAAATTG	0.488000														47			10		0	0	0.008291	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033004	41033004	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:41033004A>T	uc021wjj.1	+	0	518	c.518A>T	c.(517-519)aAa>aTa	p.K173I	B3GALT5_uc002yyb.1_Missense_Mutation_p.K173I|B3GALT5_uc002yye.2_Missense_Mutation_p.K173I|B3GALT5_uc002yyi.1_Missense_Mutation_p.K173I|B3GALT5_uc002yyj.1_Missense_Mutation_p.K173I|B3GALT5_uc002yyk.1_Missense_Mutation_p.K173I|B3GALT5_uc002yyl.1_Missense_Mutation_p.K173I|B3GALT5_uc002yym.1_Missense_Mutation_p.K173I	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	173					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				CTTCTGAAGAAAAACAGAACA	0.433000														39			18		0	0	0.008871	0	0
VAT1L	57687	broad.mit.edu	37	16	77896765	77896765	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:77896765G>A	uc002ffg.1	+	3	797	c.700G>A	c.(700-702)Gac>Aac	p.D234N		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	234							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CAGAAATGCAGACTACGTGCA	0.443000														70			26		0	0	0.003954	0	0
FOLR4	390243	broad.mit.edu	37	11	94039753	94039753	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:94039753C>T	uc021qou.1	+	1	213	c.213C>T	c.(211-213)ctC>ctT	p.L71L		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	71						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TATCCCCACTCTACAACTTCA	0.547000														41			64		0	0	0.003610	0	0
CDC25C	995	broad.mit.edu	37	5	137654975	137654975	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:137654975C>T	uc003lcs.1	-	6	982	c.782G>A	c.(781-783)gGa>gAa	p.G261E	CDC25C_uc003lcp.1_Missense_Mutation_p.G183E|CDC25C_uc003lcq.1_Missense_Mutation_p.G110E|CDC25C_uc003lcr.1_Missense_Mutation_p.G183E|CDC25C_uc011cyp.1_Missense_Mutation_p.G200E|CDC25C_uc010jet.1_Missense_Mutation_p.G153E|CDC25C_uc003lct.1_3'UTR|CDC25C_uc003lcu.1_Missense_Mutation_p.G140E	NM_001790	NP_001781	P30307	MPIP3_HUMAN	Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA.	183					DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	WW domain binding|protein tyrosine phosphatase activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGGTCTTCTCCTAGGTTTGG	0.373000														14			26		0	0	0.004656	0	0
ATP8B4	79895	broad.mit.edu	37	15	50339641	50339641	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:50339641C>T	uc001zxu.3	-	3	250	c.108G>A	c.(106-108)tcG>tcA	p.S36S	ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	36					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S36S(2)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TATTATATTTCGATGTGTGGA	0.358000														27			6		0	0	0.001168	0	0
IL7R	3575	broad.mit.edu	37	5	35875648	35875648	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:35875648C>T	uc003jjs.3	+	6	924	c.835C>T	c.(835-837)Cat>Tat	p.H279Y	IL7R_uc011coo.2_Silent_p.I247I|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	279					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCTCCCCGATCATAAGAAGAC	0.443000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							29			10		0	0	0.001855	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072308	17072308	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:17072308C>T	uc002zlp.1	-	0	1393	c.1133G>A	c.(1132-1134)aGg>aAg	p.R378K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	378					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGTGGCTCCCCTGAGAACCAC	0.567000														45			38		0	0	0.002222	0	0
GBF1	8729	broad.mit.edu	37	10	104139304	104139304	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:104139304C>G	uc001kux.2	+	34	4963	c.4669C>G	c.(4669-4671)Cgg>Ggg	p.R1557G	GBF1_uc001kuy.2_Missense_Mutation_p.R1553G|GBF1_uc001kuz.2_Missense_Mutation_p.R1554G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1557					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.A1556S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCGATGCCCGGCGCCAGGT	0.552000														44			43		0	0	0.003610	0	0
AK022382	0	broad.mit.edu	37	10	52390757	52390757	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:52390757G>A	uc001jjf.1	+	1		c.1450G>A								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		TCAAAATGCTGGCCAGGGGTT	0.478000														7			6		0	0	0.001168	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47635467	47635467	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:47635467C>T	uc002xtx.4	+	33	4708	c.4556C>T	c.(4555-4557)cCc>cTc	p.P1519L	ARFGEF2_uc010zyf.2_Missense_Mutation_p.P812L	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1519					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GATAAAAATCCCTCTGAGAGG	0.423000														35			12		0	0	0.001855	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34839359	34839359	+	Splice_Site	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:34839359A>T	uc003oju.4	+	19	4216	c.3982_splice	c.e19-2	p.D1328_splice	UHRF1BP1_uc010jvm.2_Splice_Site|UHRF1BP1_uc010jvn.3_Splice_Site|UHRF1BP1_uc010jvo.3_Splice_Site	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1328										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCTTTCCTGCAGGATGATATC	0.507000														45			19		0	0	0.001523	0	0
CCKBR	887	broad.mit.edu	37	11	6290959	6290959	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:6290959G>A	uc001mcp.3	+	1	467	c.212G>A	c.(211-213)gGa>gAa	p.G71E	CCKBR_uc001mcq.3_5'UTR|CCKBR_uc001mcr.3_Missense_Mutation_p.G71E|CCKBR_uc001mcs.3_Missense_Mutation_p.G71E	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	71					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.G70A(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AGCGTTGGAGGAAATATGCTC	0.557000														22			40		0	0	0.008740	0	0
FILIP1	27145	broad.mit.edu	37	6	76023710	76023710	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:76023710C>T	uc010kbe.3	-	5	2377	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	FILIP1_uc003phy.1_Missense_Mutation_p.G613E|FILIP1_uc003phz.3_Missense_Mutation_p.G514E|FILIP1_uc003pia.3_Missense_Mutation_p.G613E|FILIP1_uc003pib.1_Missense_Mutation_p.G365E	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	613								p.R616*(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCGTGACCTTCCTCTTGTTAT	0.388000														127			75		0	0	0.003610	0	0
CCDC11	220136	broad.mit.edu	37	18	47769351	47769351	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:47769351C>T	uc002lee.2	-	5	1223	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	378										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AGTCTCAGCTCCTTGTCCTTC	0.413000														85			36		0	0	0.006999	0	0
MUC16	94025	broad.mit.edu	37	19	9067326	9067326	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9067326G>A	uc002mkp.3	-	2	20324	c.20120C>T	c.(20119-20121)tCc>tTc	p.S6707F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6709	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACTCTGTGGAATGATCAGG	0.478000														46			71		0	0	0.003610	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651530	121651530	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:121651530C>T	uc003vjy.3	+	11	2825	c.2430C>T	c.(2428-2430)atC>atT	p.I810I	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	810					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGAATCCATCCTGTCTTCCT	0.458000														61			85		0	0	0.003610	0	0
FAM18A	780776	broad.mit.edu	37	16	10867224	10867224	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:10867224C>T	uc010buo.1	-	4	670	c.399G>A	c.(397-399)atG>atA	p.M133I	FAM18A_uc010uyr.1_Non-coding_Transcript|FAM18A_uc010uys.1_Non-coding_Transcript|FAM18A_uc010uyt.1_Non-coding_Transcript|FAM18A_uc010bun.2_Non-coding_Transcript|FAM18A_uc010uyu.1_Non-coding_Transcript|FAM18A_uc002dad.3_Non-coding_Transcript|FAM18A_uc002daf.1_Non-coding_Transcript|FAM18A_uc002dae.1_Missense_Mutation_p.M69I	NM_001079512	NP_001072980	A6NH52	FA18A_HUMAN	Homo sapiens family with sequence similarity 18, member A (FAM18A), mRNA.	133						integral to membrane				kidney(1)|lung(1)|upper_aerodigestive_tract(1)	3						CAATCCATATCATGGGGCAGA	0.423000														40			16		0	0	0.003163	0	0
HMCN1	83872	broad.mit.edu	37	1	185704017	185704017	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:185704017C>T	uc001grq.1	+	0	335	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	36					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAGGAAATTCCCGAGGGGGC	0.463000														59			54		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711920	140711920	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:140711920G>A	uc003lji.2	+	0	1669	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	PCDHGC5_uc011dan.2_Missense_Mutation_p.D557N	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	559	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCAGAACGACAACGCGCC	0.642000														45			67		0	0	0.003610	0	0
C1orf222	339457	broad.mit.edu	37	1	1854427	1854427	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:1854427C>T	uc001aik.3	-	8	1528	c.678G>A	c.(676-678)aaG>aaA	p.K226K	C1orf222_uc001ail.3_Silent_p.K226K			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	226										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGGCACCTTCTTTGGAGATG	0.672000														55			32		0	0	0.003755	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53653105	53653105	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:53653105G>A	uc002ehp.3	-	23	3512	c.3448C>T	c.(3448-3450)Cgg>Tgg	p.R1150W	RPGRIP1L_uc002eho.4_Missense_Mutation_p.R1070W|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.R1104W|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.R1116W|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R1104W	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	1150					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R1150W(2)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATCTCAATCCGAATTTTTTCT	0.338000														143			49		0	0	0.003610	0	0
FAT1	2195	broad.mit.edu	37	4	187542210	187542210	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:187542210G>A	uc003izf.3	-	9	5718	c.5530C>T	c.(5530-5532)Cac>Tac	p.H1844Y		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1844	Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACGGTAAAGTGAAAAATACTT	0.398000										HNSCC(5;0.00058)				20			10		0	0	0.008291	0	0
MR1	3140	broad.mit.edu	37	1	181021477	181021477	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:181021477G>A	uc001goq.2	+	4	872	c.711G>A	c.(709-711)atG>atA	p.M237I	MR1_uc001gor.2_Missense_Mutation_p.M192I|MR1_uc001gos.2_Intron|MR1_uc010pns.2_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	237	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						TGACATGGATGAAAAACGGGG	0.448000														32			13		0	0	0.002450	0	0
DHX35	60625	broad.mit.edu	37	20	37653908	37653908	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:37653908C>T	uc002xjh.3	+	17	1737	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	DHX35_uc010zwa.2_Silent_p.F414F|DHX35_uc010zwc.2_Silent_p.F538F|DHX35_uc010zwb.2_Silent_p.F414F	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	569						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AGGAACATTTCCTGAATTACA	0.418000														175			106		0	0	0.003610	0	0
FAM83C	128876	broad.mit.edu	37	20	33875403	33875403	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:33875403G>A	uc021wck.1	-	3	1297	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Intron	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	393								p.P392H(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGCGATGTAGGGAGGGCTGGC	0.637000														22			6		0	0	0.001168	0	0
SLC2A5	6518	broad.mit.edu	37	1	9097825	9097825	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:9097825G>A	uc001apo.3	-	11	1618	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	SLC2A5_uc010nzy.2_Silent_p.F383F|SLC2A5_uc010nzz.2_Silent_p.F327F|SLC2A5_uc010oaa.2_Silent_p.F398F	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	442					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAGACAATGAAGCTGTACG	0.572000														42			15		0	0	0.003163	0	0
GLRB	2743	broad.mit.edu	37	4	158057641	158057641	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:158057641C>T	uc003ipj.2	+	4	520	c.318C>T	c.(316-318)ttC>ttT	p.F106F	GLRB_uc021xtp.1_Silent_p.F106F|GLRB_uc021xtq.1_Silent_p.F106F	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	106					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTAACATCTTCCTGAGACAAA	0.408000														30			13		0	0	0.001368	0	0
DOK6	220164	broad.mit.edu	37	18	67345046	67345046	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:67345046G>A	uc002lkl.3	+	3	563	c.366G>A	c.(364-366)ggG>ggA	p.G122G		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	122							insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCAGCCTTGGGGAGCCCGACC	0.532000														24			11		0	0	0.001855	0	0
KLF15	28999	broad.mit.edu	37	3	126070768	126070768	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:126070768G>A	uc011bkk.1	-	1	1180	c.998C>T	c.(997-999)aCc>aTc	p.T333I		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Homo sapiens Kruppel-like factor 15 (KLF15), mRNA.	333						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GCTGCTTTTGGTGTACATCTT	0.597000														21			8		0	0	0.003080	0	0
SALL3	27164	broad.mit.edu	37	18	76754335	76754335	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:76754335G>A	uc002lmt.3	+	1	2344	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	SALL3_uc010dra.3_Missense_Mutation_p.E389K	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	782					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CATGGACTCCGAGCTGGCCTA	0.642000														11			8		0	0	0.008291	0	0
LCE1C	353133	broad.mit.edu	37	1	152777809	152777809	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152777809C>T	uc021ozi.1	-	0	146	c.146G>A	c.(145-147)gGa>gAa	p.G49E	LCE1C_uc001fap.1_Missense_Mutation_p.G49E	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	49	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAGCAGCCTCCGGAGCTGAC	0.662000														42			13		0	0	0.004007	0	0
OR13C8	138802	broad.mit.edu	37	9	107331930	107331930	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:107331930C>T	uc011lvo.2	+	0	482	c.482C>T	c.(481-483)gCt>gTt	p.A161V		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						GTGCAGACAGCTTTTGCAATG	0.463000														19			34		0	0	0.003755	0	0
NME3	4832	broad.mit.edu	37	16	1820659	1820659	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:1820659C>T	uc002cmm.3	-	4	676	c.501G>A	c.(499-501)ctG>ctA	p.L167L	NME3_uc010brv.3_Non-coding_Transcript|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_002513	NP_002504	Q13232	NDK3_HUMAN	Homo sapiens non-metastatic cells 3, protein expressed in (NME3), mRNA.	167					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|apoptosis|induction of apoptosis		ATP binding|metal ion binding|nucleoside diphosphate kinase activity			lung(1)	1						GCTACTCATACAGCCAGTGCC	0.682000														4			5		0	0	0.001984	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567294	142567294	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:142567294G>A	uc003evd.3	-	2	520	c.213C>T	c.(211-213)gtC>gtT	p.V71V		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	71	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						AATTGAGAACGACTACTTTTC	0.453000														33			14		0	0	0.004007	0	0
SYT1	6857	broad.mit.edu	37	12	79689860	79689860	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:79689860G>A	uc001sys.3	+	7	1157	c.486G>A	c.(484-486)ggG>ggA	p.G162G	SYT1_uc001syt.3_Silent_p.G162G|SYT1_uc001syu.3_Silent_p.G159G|SYT1_uc001syv.3_Silent_p.G162G	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	162	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGCTGGTAGGGATCATTCAGG	0.423000														34			11		0	0	0.001855	0	0
KCNF1	3754	broad.mit.edu	37	2	11053650	11053650	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:11053650C>T	uc002rax.3	+	0	1588	c.1098C>T	c.(1096-1098)atC>atT	p.I366I		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	366						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I365T(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGGCCATCATCACCATGACCA	0.592000														18			18		0	0	0.001523	0	0
MED23	9439	broad.mit.edu	37	6	131937093	131937093	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:131937093G>A	uc003qcs.1	-	9	1004	c.830C>T	c.(829-831)cCt>cTt	p.P277L	MED23_uc003qcq.3_Missense_Mutation_p.P277L|MED23_uc003qct.1_Missense_Mutation_p.P277L|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	277					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CCTGGAATAAGGCTGCTCCAA	0.353000														7			21		0	0	0.004656	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847874	47847874	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:47847874C>T	uc003tny.2	-	51	7832	c.7798G>A	c.(7798-7800)Gac>Aac	p.D2600N	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2600					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGGTGAGGTCCATAAATGCT	0.517000														21			36		0	0	0.005524	0	0
RICTOR	253260	broad.mit.edu	37	5	38975651	38975651	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:38975651G>A	uc003jlo.2	-	9	899	c.877C>T	c.(877-879)Cga>Tga	p.R293*	RICTOR_uc003jlp.2_Nonsense_Mutation_p.R293*|RICTOR_uc010ivf.2_Nonsense_Mutation_p.R8*|RICTOR_uc003jlq.1_Nonsense_Mutation_p.R277*	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	293					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					GCCCATGATCGGAATGTTGCT	0.388000														28			14		0	0	0.004990	0	0
NR1H4	9971	broad.mit.edu	37	12	100897247	100897247	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:100897247G>A	uc001tht.2	+	0	110	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	NR1H4_uc001thq.2_Intron|NR1H4_uc001thp.2_Intron|NR1H4_uc001thr.2_Intron|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Intron|NR1H4_uc001ths.2_Missense_Mutation_p.E28K	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	28					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						ATTTTTCATGGAAATGATGAG	0.458000														19			5		0	0	0.000602	0	0
CYP2C19	1557	broad.mit.edu	37	10	96493119	96493119	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96493119G>A	uc001kjv.4	+	7	1541	c.1215G>A	c.(1213-1215)gaG>gaA	p.E405E	CYP2C19_uc001kjw.4_Silent_p.E346E|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.R9K	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	405					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CCAACCCAGAGATGTTTGACC	0.403000														50			11		0	0	0.000978	0	0
CHRM2	1129	broad.mit.edu	37	7	136700313	136700313	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:136700313G>A	uc003vtf.1	+	3	1324	c.701G>A	c.(700-702)aGt>aAt	p.S234N	CHRM2_uc003vtg.1_Missense_Mutation_p.S234N|CHRM2_uc003vti.1_Missense_Mutation_p.S234N|CHRM2_uc003vtm.1_Missense_Mutation_p.S234N|CHRM2_uc003vtj.1_Missense_Mutation_p.S234N|CHRM2_uc003vtk.1_Missense_Mutation_p.S234N|CHRM2_uc003vtl.1_Missense_Mutation_p.S234N|CHRM2_uc003vtn.1_Missense_Mutation_p.S234N|CHRM2_uc003vto.1_Missense_Mutation_p.S234N|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.S234N	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	234					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GTTTCTCCAAGTCTGGTACAA	0.498000														10			4		0	0	0.000248	0	0
SIK1	150094	broad.mit.edu	37	21	44838314	44838314	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:44838314G>A	uc002zdf.2	-	11	1697	c.1570C>T	c.(1570-1572)Ccg>Tcg	p.P524S		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	524					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TGAGTGGCCGGGGTGCCACTG	0.701000														8			3		0	0	0.004672	0	0
MYH15	22989	broad.mit.edu	37	3	108229345	108229345	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:108229345G>A	uc003dxa.1	-	1	150	c.93C>T	c.(91-93)gcC>gcT	p.A31A		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	31	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.A31A(2)|p.A31E(2)|p.A31D(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTCTGAGGAAGGCTGCGGCTT	0.458000														39			15		0	0	0.002450	0	0
DGKI	9162	broad.mit.edu	37	7	137282621	137282621	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:137282621C>T	uc003vtt.3	-	11	1284	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	DGKI_uc003vtu.3_Missense_Mutation_p.R128Q	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	428	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGCCAGAATTCGCAGATTTGG	0.413000														31			6		0	0	0.001984	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445384	87445384	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:87445384G>A	uc002fjz.1	-	11	2559	c.2532C>T	c.(2530-2532)ggC>ggT	p.G844G	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.G620G	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	844					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGAAGGTGGAGCCGCCGCCGT	0.657000														7			12		0	0	0.000978	0	0
ADORA2B	136	broad.mit.edu	37	17	15878080	15878080	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:15878080C>A	uc002gpd.1	+	1	755	c.423C>A	c.(421-423)ttC>ttA	p.F141L		NM_000676	NP_000667	P29275	AA2BR_HUMAN	Homo sapiens adenosine A2b receptor (ADORA2B), mRNA.	141					JNK cascade|activation of MAPK activity|cellular defense response|excretion	integral to plasma membrane		p.P140L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGACTCCATTCCTGGGGTGGA	0.502000														15			30		5.45727e-16	8.37299e-16	0.008361	1	0
IPO4	79711	broad.mit.edu	37	14	24653884	24653884	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:24653884G>A	uc001wmv.1	-	15	2629	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D	IPO4_uc001wmt.1_Silent_p.D14D|IPO4_uc001wmu.2_Silent_p.D198D|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.D400D|IPO4_uc001wmy.1_Silent_p.D400D|IPO4_uc001wmz.2_Silent_p.D536D	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	536					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGGCTGAAGGTCCTCACGGC	0.612000														4			6		0	0	0.001168	0	0
ASTN1	460	broad.mit.edu	37	1	177001937	177001938	+	Silent	DNP	GG	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:177001937_177001938GG>AA	uc001glc.3	-	2	731_732	c.519_520CC>TT	c.(517-522)atcctg>atTTtg	p.173_174IL>IL	ASTN1_uc001glb.1_Silent_p.173_174IL>IL|ASTN1_uc001gld.1_Silent_p.173_174IL>IL|ASTN1_uc009wwx.1_Silent_p.173_174IL>IL|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	173					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGAGTATACAGGATCATCACCA	0.579000														30			9		0	0	0.004672	0	0
DNAH7	56171	broad.mit.edu	37	2	196825151	196825151	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:196825151C>T	uc002utj.4	-	17	2825	c.2724G>A	c.(2722-2724)atG>atA	p.M908I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	908	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACTCAGTAATCATCTTCTCCA	0.368000														74			17		0	0	0.004007	0	0
BAI2	576	broad.mit.edu	37	1	32196485	32196485	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:32196485G>A	uc001btn.3	-	28	4650	c.4296C>T	c.(4294-4296)gcC>gcT	p.A1432A	BAI2_uc010ogn.2_Silent_p.A402A|BAI2_uc010ogo.2_Silent_p.A1041A|BAI2_uc010ogp.2_Silent_p.A1365A|BAI2_uc010ogq.2_Silent_p.A1399A|BAI2_uc001bto.3_Silent_p.A1432A|BAI2_uc001btp.1_Silent_p.A426A	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1432					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCACTTGGCGGGCGCTGGGTG	0.677000														35			39		0	0	0.002852	0	0
MUC16	94025	broad.mit.edu	37	19	8997440	8997440	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:8997440T>G	uc002mkp.3	-	58	41186	c.40982A>C	c.(40981-40983)aAc>aCc	p.N13661T	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.N478T|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13663	SEA 11.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCCGTGGTGTTGAACTTCCT	0.572000														8			36		0	0	0.005524	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224297	172224297	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:172224297G>A	uc003fid.3	-	4	954	c.831C>T	c.(829-831)gcC>gcT	p.A277A	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	277					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	p.G276G(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAACTAAAAAGGCCCCAAAAA	0.358000														15			14		0	0	0.004990	0	0
HOMER3	9454	broad.mit.edu	37	19	19049244	19049244	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:19049244G>A	uc002nku.2	-	2	874	c.221C>T	c.(220-222)tCc>tTc	p.S74F	HOMER3_uc010eby.2_Missense_Mutation_p.S74F|HOMER3_uc010ebz.2_Missense_Mutation_p.S74F|HOMER3_uc002nkw.2_Missense_Mutation_p.S74F|HOMER3_uc002nkv.2_Missense_Mutation_p.S74F	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.	74	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			GAACTTCTGGGAAGTTTTGGT	0.557000														16			21		0	0	0.001523	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21242995	21242995	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:21242995C>G	uc010sil.2	+	15	2267	c.2202C>G	c.(2200-2202)ttC>ttG	p.F734L	SLCO1B3_uc010sim.2_Missense_Mutation_p.F673L|SLCO1B3_uc010sin.2_Missense_Mutation_p.F626L			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	673					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACTTAGAATTCTTAAACGACA	0.308000														23			9		0	0	0.004482	0	0
DLGAP4	22839	broad.mit.edu	37	20	35061085	35061085	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:35061085C>T	uc002xff.3	+	2	1400	c.965C>T	c.(964-966)tCc>tTc	p.S322F	DLGAP4_uc010zvp.2_Missense_Mutation_p.S322F	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	322					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGTCCAAATCCTGCCACCAG	0.612000														32			10		0	0	0.001855	0	0
TPTE	7179	broad.mit.edu	37	21	10934955	10934955	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:10934955G>A	uc002yip.1	-	14	1206	c.838C>T	c.(838-840)Cga>Tga	p.R280*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R262*|TPTE_uc002yir.1_Nonsense_Mutation_p.R242*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R142*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	280	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R262*(2)|p.R280M(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGTAGACTCGATAGTGGTTT	0.333000														134			8		0	0	0.004482	0	0
KAT6A	7994	broad.mit.edu	37	8	41801328	41801328	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:41801328G>A	uc010lxb.3	-	13	2710	c.2166C>T	c.(2164-2166)atC>atT	p.I722I	KAT6A_uc010lxc.3_Silent_p.I722I|KAT6A_uc003xon.4_Silent_p.I722I|KAT6A_uc010lxd.3_Silent_p.I722I	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	722	Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CTTGAGGGCAGATTCCAGTCA	0.403000														58			12		0	0	0.002450	0	0
SARM1	23098	broad.mit.edu	37	17	26711585	26711585	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:26711585C>T	uc010crl.1	+	4	1360	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	SARM1_uc010waj.1_Non-coding_Transcript|SARM1_uc002hbe.1_5'Flank	NM_015077	NP_055892	Q6SZW1	SARM1_HUMAN	Homo sapiens sterile alpha and TIR motif containing 1 (SARM1), mRNA.	433	SAM 1.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCGAGAGCTTCCGGGTAGAGT	0.682000														2			5		0	0	0.000602	0	0
NRP1	8829	broad.mit.edu	37	10	33559618	33559618	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:33559618C>T	uc001iwx.4	-	2	938	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	NRP1_uc001iwv.4_Missense_Mutation_p.E139K|NRP1_uc001iwy.4_Missense_Mutation_p.E139K|NRP1_uc009xlz.3_Missense_Mutation_p.E139K|NRP1_uc001iww.4_Intron|NRP1_uc001iwz.2_Missense_Mutation_p.E139K|NRP1_uc001ixa.2_Missense_Mutation_p.E139K|NRP1_uc001ixb.2_Missense_Mutation_p.E139K|NRP1_uc001ixc.1_Missense_Mutation_p.E139K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	139	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGAAAATTTCATAACGTATG	0.433000														27			25		0	0	0.001786	0	0
MYO5C	55930	broad.mit.edu	37	15	52534379	52534379	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:52534379C>T	uc010bff.3	-	19	2584	c.2422G>A	c.(2422-2424)Gct>Act	p.A808T	MYO5C_uc010uga.2_Intron|MYO5C_uc010ugb.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	808	IQ 3.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCTGCCCAAGCTTCTTTTAAG	0.483000														156			39		0	0	0.003214	0	0
SYBU	55638	broad.mit.edu	37	8	110588237	110588237	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:110588237C>T	uc010mcp.3	-	7	1252	c.890G>A	c.(889-891)aGt>aAt	p.S297N	SYBU_uc003yni.4_Missense_Mutation_p.S294N|SYBU_uc003ynk.4_Missense_Mutation_p.S178N|SYBU_uc003ynj.4_Missense_Mutation_p.S297N|SYBU_uc010mco.3_Missense_Mutation_p.S296N|SYBU_uc003ynl.4_Missense_Mutation_p.S296N|SYBU_uc010mcq.3_Missense_Mutation_p.S297N|SYBU_uc003yno.4_Missense_Mutation_p.S178N|SYBU_uc010mcr.3_Missense_Mutation_p.S297N|SYBU_uc003ynm.4_Missense_Mutation_p.S296N|SYBU_uc003ynn.4_Missense_Mutation_p.S296N|SYBU_uc010mcs.3_Missense_Mutation_p.S178N|SYBU_uc010mct.3_Missense_Mutation_p.S297N|SYBU_uc010mcu.3_Missense_Mutation_p.S296N|SYBU_uc003ynp.4_Missense_Mutation_p.S229N|SYBU_uc010mcv.3_Missense_Mutation_p.S297N|SYBU_uc003ynh.4_Missense_Mutation_p.S91N|SYBU_uc011lhw.2_Missense_Mutation_p.S167N	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	297	Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CACGATTTCACTTTCCCTAGA	0.468000														18			5		0	0	0.000602	0	0
EYS	346007	broad.mit.edu	37	6	66205080	66205080	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:66205080G>A	uc011dxu.1	-	3	762	c.224C>T	c.(223-225)cCc>cTc	p.P75L	EYS_uc003peq.3_Missense_Mutation_p.P75L|EYS_uc003per.1_Missense_Mutation_p.P75L|EYS_uc021zbn.1_Missense_Mutation_p.P75L|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	75					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCAAATCTGGGGAACAGCTTG	0.353000														60			28		0	0	0.001786	0	0
KHDC1	80759	broad.mit.edu	37	6	73919676	73919676	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:73919676C>T	uc011dyl.1	-	7		c.1417G>A						Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 2, mRNA.							integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						AAAGGCCACTCACCAAAGATG	0.493000														13			10		0	0	0.000978	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003718	119003718	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:119003718G>A	uc001ldd.2	+	2	521	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	120					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTGTCCCAGTGAAGACAAAGA	0.527000														23			23		0	0	0.001882	0	0
CSMD1	64478	broad.mit.edu	37	8	3216730	3216730	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:3216730A>C	uc022aqr.1	-	20	3638	c.3248T>G	c.(3247-3249)cTt>cGt	p.L1083R	CSMD1_uc011kwj.2_Missense_Mutation_p.L476R|CSMD1_uc003wqe.3_Missense_Mutation_p.L240R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1084	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGCAGGTAAGCTTGGTGGC	0.557000														34			28		0	0	0.002836	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74621505	74621505	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:74621505A>C	uc001dfy.4	-	3	811	c.619T>G	c.(619-621)Tca>Gca	p.S207A	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	207										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTAATTTTTGAAGTAATATGT	0.244000														16			22		0	0	0.003954	0	0
SEPT14	346288	broad.mit.edu	37	7	55874950	55874950	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:55874950C>T	uc003tqz.2	-	8	935	c.818_splice	c.e8-1	p.V273_splice		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	273					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTCATTTTCCACTAGTAAAA	0.303000														51			15		0	0	0.004007	0	0
ADAM11	4185	broad.mit.edu	37	17	42847128	42847128	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:42847128A>C	uc002ihh.3	+	2	280	c.280A>C	c.(280-282)Aac>Cac	p.N94H	ADAM11_uc010wjd.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	94					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CCCAGCCTTCAACTCAAACTT	0.637000														70			53		0	0	0.003610	0	0
WDR49	151790	broad.mit.edu	37	3	167254743	167254743	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:167254743G>A	uc003fev.1	-	6	1117	c.813C>T	c.(811-813)atC>atT	p.I271I	WDR49_uc003feu.1_Silent_p.I96I|WDR49_uc011bpd.1_Silent_p.I335I|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	271										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTTCAGGCTGGATGAAAAATT	0.383000														27			7		0	0	0.001984	0	0
USP26	83844	broad.mit.edu	37	X	132160571	132160571	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:132160571G>A	uc011mvf.2	-	0	1730	c.1678C>T	c.(1678-1680)Ccc>Tcc	p.P560S	USP26_uc010nrm.1_Missense_Mutation_p.P560S	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	560					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L559P(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCACTCAAGGGAAGAGGTGGT	0.378000														20			26		0	0	0.003330	0	0
PDC	5132	broad.mit.edu	37	1	186415666	186415666	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:186415666C>T	uc001gsa.3	-	2	178	c.105G>A	c.(103-105)gaG>gaA	p.E35E	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_5'UTR	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	35					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TGTCTTGACTCTCTAATTTAA	0.358000														32			8		0	0	0.004482	0	0
CRYZ	1429	broad.mit.edu	37	1	75171991	75171991	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:75171991G>A	uc001dgk.3	-	9	1484	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	CRYZ_uc001dgj.3_Missense_Mutation_p.L327F|CRYZ_uc001dgl.3_Missense_Mutation_p.L293F|CRYZ_uc001dgm.3_Missense_Mutation_p.L190F	NM_001130042	NP_001880	Q08257	QOR_HUMAN	Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA.	327					protein homotetramerization|visual perception|xenobiotic catabolic process	Golgi apparatus|cytosol	NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CATAAGAGAAGAATCATTTTT	0.373000														29			19		0	0	0.003330	0	0
PHF14	9678	broad.mit.edu	37	7	11076223	11076223	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:11076223C>T	uc003sry.2	+	8	2233	c.1781C>T	c.(1780-1782)cCa>cTa	p.P594L	PHF14_uc011jxi.2_Missense_Mutation_p.P309L|PHF14_uc011jxj.2_Missense_Mutation_p.P309L	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	594							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GATATCTTTCCAGTGGACAAT	0.418000														23			41		0	0	0.003610	0	0
BAI2	576	broad.mit.edu	37	1	32205771	32205771	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:32205771G>A	uc001btn.3	-	12	2352	c.1998C>T	c.(1996-1998)ttC>ttT	p.F666F	BAI2_uc010ogo.2_Silent_p.F308F|BAI2_uc010ogp.2_Silent_p.F599F|BAI2_uc010ogq.2_Silent_p.F666F|BAI2_uc001bto.3_Silent_p.F666F|BAI2_uc001btq.1_Silent_p.F599F|BAI2_uc010ogr.1_Intron	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	666					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TCACCACCTGGAAGAAGCGCT	0.612000														31			13		0	0	0.001855	0	0
PET112	5188	broad.mit.edu	37	4	152626406	152626406	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:152626406C>T	uc003iml.3	-	6	934	c.893G>A	c.(892-894)aGg>aAg	p.R298K	PET112_uc003imm.4_Missense_Mutation_p.R298K	NM_004564	NP_004555	O75879	GATB_HUMAN	Homo sapiens PET112 homolog (yeast) (PET112), nuclear gene encoding mitochondrial protein, mRNA.	298						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATTGATTTGCCTCTGAATTTC	0.383000														28			9		0	0	0.008291	0	0
CARD11	84433	broad.mit.edu	37	7	2977622	2977622	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:2977622C>T	uc003smv.3	-	7	1396	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	354					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.Y354H(1)|p.M353T(1)|p.M353K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGTCCTTTCCCAGGGTCGAGC	0.557000			Mis		DLBCL									53			25		0	0	0.003755	0	0
FAM83D	81610	broad.mit.edu	37	20	37570694	37570694	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:37570694C>T	uc002xjg.3	+	1	707	c.666C>T	c.(664-666)atC>atT	p.I222I	FAM83D_uc002xjf.3_Silent_p.I222I	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	192					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				CTGTGTATATCCTTCTGGACC	0.448000														81			47		0	0	0.003610	0	0
RERG	85004	broad.mit.edu	37	12	15262435	15262435	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:15262435C>T	uc001rcs.3	-	3	349	c.209G>A	c.(208-210)aGg>aAg	p.R70K	RERG_uc001rct.3_Missense_Mutation_p.R70K|RERG_uc010shu.2_Missense_Mutation_p.R51K	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	70					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GTGCCCCTCCCTCTGAATGGT	0.458000														81			123		0	0	0.003610	0	0
MYCBP2	23077	broad.mit.edu	37	13	77651353	77651353	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:77651353G>A	uc021rks.1	-	66	11921	c.11654C>T	c.(11653-11655)tCa>tTa	p.S3885L	MYCBP2_uc010aev.3_Missense_Mutation_p.S3251L|MYCBP2_uc001vke.3_Missense_Mutation_p.S467L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	3847					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACACTGGCTGAAATCTGGCC	0.443000														9			21		0	0	0.008871	0	0
CBLB	868	broad.mit.edu	37	3	105438911	105438911	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:105438911G>A	uc003dwc.3	-	9	1709	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	CBLB_uc011bhi.2_Missense_Mutation_p.R485W|CBLB_uc003dwd.2_Missense_Mutation_p.R463W|CBLB_uc003dwe.2_Missense_Mutation_p.R463W|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	463					NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTTGCCAACCGATTCATCATC	0.453000			Mis S		AML									22			17		0	0	0.007413	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902817	4902817	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:4902817G>A	uc002mbm.3	-	0	63	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	21					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GCACTAATTCGATCGACTTCA	0.547000														14			25		0	0	0.003954	0	0
USH2A	7399	broad.mit.edu	37	1	216251499	216251499	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:216251499G>A	uc001hku.1	-	26	5891	c.5504C>T	c.(5503-5505)tCa>tTa	p.S1835L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1835	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAAACTGGTGAATTCACCAC	0.433000										HNSCC(13;0.011)				34			29		0	0	0.007291	0	0
WDR52	55779	broad.mit.edu	37	3	113114680	113114680	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:113114680C>T	uc003ead.2	-	14	1874	c.1807G>A	c.(1807-1809)Gaa>Aaa	p.E603K	WDR52_uc003eae.2_Missense_Mutation_p.E603K	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	603										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTTCCACTTCAAAGAAGAAA	0.343000														17			13		0	0	0.002450	0	0
ABCA4	24	broad.mit.edu	37	1	94520859	94520859	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:94520859G>A	uc001dqh.3	-	15	2499	c.2395C>T	c.(2395-2397)Ccg>Tcg	p.P799S	ABCA4_uc010otn.1_Missense_Mutation_p.P725S	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	799					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AATGCCACCGGAGACAGTAAG	0.567000														20			14		0	0	0.003163	0	0
CYP11A1	1583	broad.mit.edu	37	15	74631586	74631586	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:74631586G>A	uc002axt.2	-	6	1383	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S	CYP11A1_uc002axs.2_Missense_Mutation_p.P252S|CYP11A1_uc010bjm.1_Missense_Mutation_p.P252S|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	410					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	ACCTTGGCAGGAATCATGTAA	0.577000														31			6		0	0	0.001984	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55052249	55052249	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:55052249G>A	uc003dhf.3	+	34	2940	c.2892G>A	c.(2890-2892)caG>caA	p.Q964Q	CACNA2D3_uc003dhg.1_Silent_p.Q870Q|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	964						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AATTGAAACAGACCCTGGAGC	0.468000														4			6		0	0	0.001168	0	0
PCDH15	65217	broad.mit.edu	37	10	55782729	55782729	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:55782729G>A	uc010qhy.1	-	19	2859	c.2464C>T	c.(2464-2466)Cct>Tct	p.P822S	PCDH15_uc010qhq.2_Missense_Mutation_p.P822S|PCDH15_uc010qhr.2_Missense_Mutation_p.P817S|PCDH15_uc021pqv.1_Missense_Mutation_p.P817S|PCDH15_uc021pqw.1_Missense_Mutation_p.P829S|PCDH15_uc010qht.2_Missense_Mutation_p.P824S|PCDH15_uc021pqx.1_Missense_Mutation_p.P817S|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P817S|PCDH15_uc021pqz.1_Missense_Mutation_p.P795S|PCDH15_uc010qhv.1_Missense_Mutation_p.P817S|PCDH15_uc010qhw.1_Missense_Mutation_p.P780S|PCDH15_uc010qhx.1_Missense_Mutation_p.P746S|PCDH15_uc010qhz.1_Missense_Mutation_p.P817S|PCDH15_uc010qia.1_Missense_Mutation_p.P795S|PCDH15_uc001jju.1_Missense_Mutation_p.P817S|PCDH15_uc010qib.1_Missense_Mutation_p.P795S|PCDH15_uc001jjw.3_Missense_Mutation_p.P817S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	817	Cadherin 8.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTGAACACAGGACTGTTATCA	0.423000										HNSCC(58;0.16)				48			11		0	0	0.008291	0	0
JAK3	3718	broad.mit.edu	37	19	17942554	17942554	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:17942554C>T	uc002nhn.4	-	19	2834	c.2734G>A	c.(2734-2736)Gac>Aac	p.D912N	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.D912N	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	912	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGCAGGAAGTCGCGCAAGCAG	0.692000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									6			12		0	0	0.001368	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133930599	133930599	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:133930599G>A	uc001lkx.4	+	1	154	c.154G>A	c.(154-156)Gag>Aag	p.E52K		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGTGGAACGCGAGAAGAACCA	0.562000														20			19		0	0	0.001523	0	0
POTEF	728378	broad.mit.edu	37	2	130832241	130832241	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:130832241G>A	uc010fmh.2	-	16	3204	c.2804C>T	c.(2803-2805)tCc>tTc	p.S935F		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	935	Actin-like.					cell cortex	ATP binding	p.S935S(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTCTCTAGGGAGGAGCTGGA	0.622000														19			13		0	0	0.006122	0	0
SCAND3	114821	broad.mit.edu	37	6	28539785	28539785	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28539785C>T	uc003nlo.3	-	3	4499	c.3881G>A	c.(3880-3882)aGt>aAt	p.S1294N		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1294					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tatatttaaactgtttctatg	0.353000														47			17		0	0	0.004990	0	0
PSME4	23198	broad.mit.edu	37	2	54101580	54101580	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:54101580G>A	uc002rxp.2	-	42	5052	c.4996C>T	c.(4996-4998)Cag>Tag	p.Q1666*	PSME4_uc010yop.1_Nonsense_Mutation_p.Q1552*|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Nonsense_Mutation_p.Q1041*|PSME4_uc010fbv.1_Nonsense_Mutation_p.Q810*|PSME4_uc010fbt.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1666					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACCATGGTCTGGAGGTAGGTC	0.378000														24			17		0	0	0.007413	0	0
GRID1	2894	broad.mit.edu	37	10	87362365	87362365	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:87362365C>T	uc001kdl.1	-	15	2796	c.2695G>A	c.(2695-2697)Gag>Aag	p.E899K	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.E470K|LOC100507470_uc001kdk.2_Intron	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	899						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCCGAGAGCTCAATCGACGCT	0.597000										Multiple Myeloma(13;0.14)				5			6		0	0	0.001168	0	0
SYT17	51760	broad.mit.edu	37	16	19278342	19278342	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:19278342C>T	uc002dfw.3	+	7	1700	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	SYT17_uc002dfx.3_Silent_p.L396L|SYT17_uc002dfy.3_Silent_p.L453L	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	457						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GTGGCATAGCCTGAGGTCCCG	0.567000														22			4		0	0	0.000248	0	0
OR5F1	338674	broad.mit.edu	37	11	55762055	55762055	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:55762055C>T	uc010riv.2	-	0	47	c.47G>A	c.(46-48)gGa>gAa	p.G16E		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTCTGCTAATCCCAATAGGAC	0.348000														16			20		0	0	0.003330	0	0
DPP4	1803	broad.mit.edu	37	2	162868390	162868390	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:162868390C>T	uc002ubz.3	-	19	2306	c.1745G>A	c.(1744-1746)gGa>gAa	p.G582E	DPP4_uc010fpb.3_Missense_Mutation_p.G258E	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	582					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GTAACCACTTCCTCTGCCATC	0.443000														34			34		0	0	0.005524	0	0
SHISA4	149345	broad.mit.edu	37	1	201860574	201860574	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:201860574C>T	uc001gxa.3	+	3	743	c.425C>T	c.(424-426)cCa>cTa	p.P142L	SHISA4_uc021phk.1_Non-coding_Transcript	NM_198149	NP_937792	Q96DD7	SHSA4_HUMAN	Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA.	142	Pro-rich.					integral to membrane				kidney(1)|lung(4)	5						CCAGTATACCCATACCCCCAG	0.582000														49			14		0	0	0.004007	0	0
VAV3	10451	broad.mit.edu	37	1	108292186	108292186	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:108292186G>A	uc001dvk.1	-	13	1344	c.1290C>T	c.(1288-1290)atC>atT	p.I430I	VAV3_uc010ouw.1_Silent_p.I430I|VAV3_uc001dvl.1_Silent_p.I254I|VAV3_uc010oux.1_Silent_p.I430I	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	430	PH.				B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TCTTACATACGATCACTGCCA	0.303000														33			10		0	0	0.001368	0	0
PRKX	5613	broad.mit.edu	37	X	3592715	3592715	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:3592715G>A	uc010nde.3	-	1	640	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	87	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				TGCTTTAGGCGGATGACGTCG	0.572000														19			43		0	0	0.002852	0	0
OR4C3	256144	broad.mit.edu	37	11	48347047	48347047	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:48347047C>T	uc010rhv.2	+	0	555	c.555C>T	c.(553-555)ctC>ctT	p.L185L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGGTTCAGCTCCTCCTGGTCC	0.527000														29			13		0	0	0.001855	0	0
UMOD	7369	broad.mit.edu	37	16	20359594	20359594	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:20359594C>T	uc002dhb.3	-	4	1152	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	UMOD_uc002dgz.3_Silent_p.S308S|UMOD_uc002dha.3_Silent_p.S308S	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	308	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCCATTATTCGATTTGCAGT	0.552000														107			37		0	0	0.008740	0	0
GLI2	2736	broad.mit.edu	37	2	121746677	121746677	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:121746677C>T	uc010flp.3	+	12	3217	c.3187C>T	c.(3187-3189)Cca>Tca	p.P1063S	GLI2_uc002tmq.1_Missense_Mutation_p.P735S|GLI2_uc002tmr.1_Missense_Mutation_p.P718S|GLI2_uc002tmt.4_Missense_Mutation_p.P735S|GLI2_uc002tmu.4_Missense_Mutation_p.P718S	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1063					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTGGTGCTTCCAGACGACGT	0.672000														34			15		0	0	0.008871	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														18			9		0	0	0.006214	0	0
ROS1	6098	broad.mit.edu	37	6	117677936	117677936	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:117677936C>T	uc003pxp.1	-	24	4196	c.3997G>A	c.(3997-3999)Gaa>Aaa	p.E1333K	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1333					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AACTCAAATTCAGTCACATTA	0.398000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									16			19		0	0	0.008871	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101285	80101285	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:80101285C>T	uc010ysh.2	+	4	674	c.669C>T	c.(667-669)gcC>gcT	p.A223A	CTNNA2_uc010yse.2_Silent_p.A223A|CTNNA2_uc010ysf.2_Silent_p.A223A|CTNNA2_uc010ysg.2_Silent_p.A223A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	223					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGTACACGGCCTCTCAAGCAT	0.557000														20			15		0	0	0.004007	0	0
OR10K1	391109	broad.mit.edu	37	1	158436014	158436014	+	Silent	SNP	C	T	T	rs151132888	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158436014C>T	uc010pij.2	+	0	663	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R220H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACATCCGCATCATCTCTGCCA	0.473000														42			12		0	0	0.002450	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995673	19995673	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:19995673G>A	uc002ktv.1	-	0	2206	c.2102C>T	c.(2101-2103)cCa>cTa	p.P701L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	701	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAATAATCTGGAGAAGCTCC	0.488000														26			16		0	0	0.004990	0	0
GPSM3	63940	broad.mit.edu	37	6	32159543	32159543	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32159543G>A	uc003oay.4	-	2	690	c.288C>T	c.(286-288)gcC>gcT	p.A96A	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Silent_p.A96A	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	96					signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						GACGGAGTGGGGCAGGGGCTA	0.617000														430			126		0	0	0.003610	0	0
STEAP3	55240	broad.mit.edu	37	2	120003228	120003228	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:120003228C>T	uc002tlp.3	+	2	313	c.156C>T	c.(154-156)ttC>ttT	p.F52F	STEAP3_uc002tlq.3_Silent_p.F62F|STEAP3_uc002tlr.3_Silent_p.F52F|STEAP3_uc010fle.3_Silent_p.F52F	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	52					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCTCTGGCTTCAAAGTGGTGG	0.652000														11			14		0	0	0.002450	0	0
ASPG	374569	broad.mit.edu	37	14	104575621	104575621	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:104575621G>A	uc001yop.2	+	12	1574	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	ASPG_uc001yoq.2_Missense_Mutation_p.E497K|ASPG_uc001yor.2_Missense_Mutation_p.E497K	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	497					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCCACCCAGGAGCTGGAGGA	0.637000														8			14		0	0	0.006122	0	0
A2M	2	broad.mit.edu	37	12	9246161	9246162	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:9246161_9246162CC>TT	uc001qvk.1	-	17	2252_2253	c.2139_2140GG>AA	c.(2137-2142)atggga>atAAga	p.713_714MG>IR	A2M_uc009zgk.1_Missense_Mutation_p.563_564MG>IR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	713	Bait region.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGGCCTCTTCCCATTACATCTG	0.426000														6			12		0	0	0.004672	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72953609	72953609	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:72953609C>T	uc010uks.1	+	7	610	c.569C>T	c.(568-570)tCg>tTg	p.S190L		NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	190								p.S189F(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ATCCAGTCCTCGAGCTGCAGA	0.562000														97			11		0	0	0.000978	0	0
FPR1	2357	broad.mit.edu	37	19	52249761	52249761	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:52249761G>A	uc021uyn.1	-	2	633	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	FPR1_uc002pxq.3_Missense_Mutation_p.R163C|FPR1_uc021uyo.1_Missense_Mutation_p.R163C	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	163					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTAGTCACACGAATGATAACT	0.537000														13			22		0	0	0.002299	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47366085	47366085	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:47366085C>T	uc001cqo.1	-	0		c.63G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		GCCATGAGTTCCTGAAGCCAG	0.537000														2			5		0	0	0.000602	0	0
C10orf71	118461	broad.mit.edu	37	10	50531556	50531556	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:50531556C>T	uc021pqb.1	+	0	966	c.966C>T	c.(964-966)gtC>gtT	p.V322V	C10orf71_uc021pqa.1_Silent_p.V321V|C10orf71_uc021pqc.1_Silent_p.V322V	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	322										endometrium(1)	1						AGCGCACAGTCTCTCCCTGCC	0.582000														30			9		0	0	0.004482	0	0
SPEF2	79925	broad.mit.edu	37	5	35771819	35771819	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:35771819G>A	uc003jjo.3	+	26	4021	c.3910G>A	c.(3910-3912)Gag>Aag	p.E1304K	SPEF2_uc003jjp.1_Missense_Mutation_p.E790K|SPEF2_uc003jjr.3_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1304					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.E1304*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTCAAAAAGGAGCCACCCAA	0.403000														24			11		0	0	0.000978	0	0
ANP32C	23520	broad.mit.edu	37	4	165118757	165118757	+	Missense_Mutation	SNP	G	A	A	rs115041268	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:165118757G>A	uc011cjk.2	-	0	107	c.107C>T	c.(106-108)gCc>gTc	p.A36V	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	36										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ATCTGTGAGGGCTTCGAGTTT	0.463000														86			64		0	0	0.003610	0	0
CYP39A1	51302	broad.mit.edu	37	6	46563780	46563780	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:46563780G>A	uc003oyf.1	-	7	1213	c.1009C>T	c.(1009-1011)Cgt>Tgt	p.R337C	CYP39A1_uc011dwa.1_Missense_Mutation_p.R317C|CYP39A1_uc010jzd.1_Missense_Mutation_p.R165C	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	337					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GCTTTTAAACGAATGGTTTCC	0.338000														51			53		0	0	0.003610	0	0
OBFC1	79991	broad.mit.edu	37	10	105648836	105648836	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:105648836G>A	uc001kxl.3	-	7	1018	c.943C>T	c.(943-945)Cca>Tca	p.P315S	OBFC1_uc001kxm.3_Missense_Mutation_p.P315S	NM_024928	NP_079204	Q9H668	STN1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 1 (OBFC1), mRNA.	315					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TTACGATTTGGTTTCTGGCAG	0.498000														28			30		0	0	0.003271	0	0
PRDM9	56979	broad.mit.edu	37	5	23526594	23526594	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:23526594G>C	uc003jgo.3	+	10	1579	c.1397G>C	c.(1396-1398)aGg>aCg	p.R466T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	466					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R466S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTGAATAAAAGGACATGGCAG	0.453000										HNSCC(3;0.000094)				17			3		0	0	0.004672	0	0
C12orf35	55196	broad.mit.edu	37	12	32135112	32135112	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:32135112C>T	uc001rks.3	+	3	1637	c.1223C>T	c.(1222-1224)tCa>tTa	p.S408L		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	408										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CAGAAGTTTTCAGAACTTGCA	0.318000														111			46		0	0	0.003610	0	0
TECTA	7007	broad.mit.edu	37	11	120980156	120980156	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:120980156C>T	uc010rzo.2	+	2	435	c.435C>T	c.(433-435)ttC>ttT	p.F145F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	145	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTTGGGTTTTCATTGTGACAT	0.438000														25			33		0	0	0.003755	0	0
HIF3A	64344	broad.mit.edu	37	19	46832507	46832507	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:46832507C>T	uc002peh.3	+	11	1515	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	HIF3A_uc002peg.4_Missense_Mutation_p.S495F|HIF3A_uc021uwf.1_Missense_Mutation_p.S439F|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.S426F|HIF3A_uc002pel.3_Missense_Mutation_p.S493F|HIF3A_uc010xxz.2_Missense_Mutation_p.S444F	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	495	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)		CCCTACATCTCCATGGATGAT	0.622000														15			41		0	0	0.003610	0	0
OXER1	165140	broad.mit.edu	37	2	42990069	42990069	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:42990069C>T	uc002rss.3	-	0	1333	c.1251G>A	c.(1249-1251)aaG>aaA	p.K417K		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	417					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGGAGCCTTCCTTTTCCAGAG	0.667000														44			32		0	0	0.005524	0	0
CTLA4	1493	broad.mit.edu	37	2	204737458	204737458	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:204737458G>A	uc002vak.2	+	3	750	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	CTLA4_uc002val.2_Missense_Mutation_p.R162K|CTLA4_uc010fty.2_Missense_Mutation_p.R67K|CTLA4_uc010ftz.2_Non-coding_Transcript	NM_005214	NP_005205	P16410	CTLA4_HUMAN	Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA.	199					B cell receptor signaling pathway|T cell costimulation|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus	Golgi apparatus|clathrin-coated endocytic vesicle|external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	TCTTACAACAGGGGTCTATGT	0.378000														19			16		0	0	0.006122	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263115	144263115	+	Missense_Mutation	SNP	C	T	T	rs141235151		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:144263115C>T	uc003qjv.3	-	2	2104	c.838G>A	c.(838-840)Gag>Aag	p.E280K	PLAGL1_uc003qjx.3_Missense_Mutation_p.E280K|PLAGL1_uc003qjy.3_Missense_Mutation_p.E280K|PLAGL1_uc010khl.3_Missense_Mutation_p.E280K|PLAGL1_uc010khm.3_Missense_Mutation_p.E280K|PLAGL1_uc003qjz.3_Missense_Mutation_p.E280K|PLAGL1_uc003qka.3_Missense_Mutation_p.E280K|PLAGL1_uc003qkb.3_Missense_Mutation_p.E228K|PLAGL1_uc003qkc.3_Missense_Mutation_p.E280K|PLAGL1_uc003qkd.3_Missense_Mutation_p.E228K|PLAGL1_uc003qke.3_Missense_Mutation_p.E280K|PLAGL1_uc003qkf.3_Missense_Mutation_p.E280K|PLAGL1_uc003qkg.3_Missense_Mutation_p.E228K|PLAGL1_uc003qkh.3_Missense_Mutation_p.E280K|PLAGL1_uc003qki.3_Missense_Mutation_p.E228K|PLAGL1_uc003qkj.3_Missense_Mutation_p.E280K|PLAGL1_uc003qkk.3_Missense_Mutation_p.E228K|PLAGL1_uc003qkl.3_Missense_Mutation_p.E228K|PLAGL1_uc003qkm.3_Missense_Mutation_p.E280K|PLAGL1_uc010khn.3_Missense_Mutation_p.E280K|PLAGL1_uc003qkn.3_Missense_Mutation_p.E228K|PLAGL1_uc003qko.3_Missense_Mutation_p.E280K|PLAGL1_uc003qkp.3_Missense_Mutation_p.E228K|PLAGL1_uc003qjw.3_Missense_Mutation_p.E228K|PLAGL1_uc021zgj.1_Missense_Mutation_p.E228K	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	280					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GCCAGGGACTCTGGCAGCGGC	0.612000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			180		0	0	0.003610	0	0
FTCD	10841	broad.mit.edu	37	21	47574148	47574148	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:47574148G>A	uc002zig.3	-	1	197	c.153C>T	c.(151-153)ttC>ttT	p.F51F	FTCD_uc002zif.3_Silent_p.F51F|FTCD_uc002zih.3_Silent_p.F51F|FTCD_uc010gqf.3_Silent_p.F51F|FTCD_uc010gqg.1_5'UTR			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	51	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCGGCCCCACGAAGGTGTACA	0.657000														22			16		0	0	0.006122	0	0
PLCH1	23007	broad.mit.edu	37	3	155206496	155206496	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:155206496C>T	uc021xge.1	-	18	2733	c.2456G>A	c.(2455-2457)cGa>cAa	p.R819Q	PLCH1_uc021xgd.1_Missense_Mutation_p.R819Q|PLCH1_uc021xgf.1_Missense_Mutation_p.R801Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	819	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R819W(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACAAAGTCTCGTCCAATGGG	0.453000														13			7		0	0	0.001984	0	0
WDR70	55100	broad.mit.edu	37	5	37725138	37725138	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:37725138C>T	uc003jkv.3	+	15	1758	c.1700C>T	c.(1699-1701)cCt>cTt	p.P567L		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	567										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGAACCTCCTGTAGCAGGC	0.542000														44			22		0	0	0.003954	0	0
WDR7	23335	broad.mit.edu	37	18	54385259	54385259	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:54385259G>A	uc002lgk.1	+	12	1854	c.1643G>A	c.(1642-1644)cGa>cAa	p.R548Q	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.R548Q	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	548										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CTAAGTTTGCGAGAGAAAAAA	0.408000														25			18		0	0	0.008871	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102991455	102991455	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:102991455T>A	uc001phn.1	+	7	1316	c.1172T>A	c.(1171-1173)aTt>aAt	p.I391N	DYNC2H1_uc009yxe.1_Missense_Mutation_p.I391N|DYNC2H1_uc001pho.2_Missense_Mutation_p.I391N	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	391	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATGAAAAGATTATTGCACCT	0.313000														3			13		0	0	0.002450	0	0
MGAM	8972	broad.mit.edu	37	7	141760126	141760126	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:141760126C>T	uc003vwy.3	+	33	4129	c.4075C>T	c.(4075-4077)Cct>Tct	p.P1359S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1359	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCCTGATTTTCCTGATGTTGT	0.438000														48			9		0	0	0.008291	0	0
SELP	6403	broad.mit.edu	37	1	169578799	169578799	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:169578799C>T	uc001ggi.4	-	7	1341	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	SELP_uc001ggh.3_Missense_Mutation_p.D261N|SELP_uc009wvr.3_Missense_Mutation_p.D426N	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	426	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGAACTATATCGGCTCCTCTC	0.498000														43			22		0	0	0.003954	0	0
ADCY5	111	broad.mit.edu	37	3	123044259	123044259	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:123044259G>A	uc003egh.2	-	7	1998	c.1998C>T	c.(1996-1998)tcC>tcT	p.S666S	ADCY5_uc021xdd.1_Silent_p.S316S|ADCY5_uc003egg.2_Silent_p.S299S|ADCY5_uc003egi.1_Silent_p.S225S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	666					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TGTGCCCGATGGAGTTGGTTC	0.587000														100			28		0	0	0.003271	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820007	50820007	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:50820007C>T	uc001jhw.3	+	0	1661	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	407					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CGCTCGCCTTCCTGGTGGACG	0.642000														21			5		0	0	0.001168	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564312	140564312	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:140564312G>A	uc003liv.3	+	0	3333	c.2178G>A	c.(2176-2178)tcG>tcA	p.S726S	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	726					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGCTGCTCGATGCCTGAGG	0.662000														27			49		0	0	0.003610	0	0
ACAN	176	broad.mit.edu	37	15	89382265	89382265	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:89382265G>A	uc010upo.1	+	2	816	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	ACAN_uc002bmx.3_Missense_Mutation_p.V148I|ACAN_uc010upp.1_Missense_Mutation_p.V148I|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	148					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACCCTGGAAGTCGTGGTGAA	0.617000														46			8		0	0	0.004482	0	0
NAP1L3	4675	broad.mit.edu	37	X	92928074	92928074	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:92928074T>C	uc004efq.3	-	0	609	c.230A>G	c.(229-231)aAg>aGg	p.K77R	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	77					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TACCCTCTTCTTTCTATACAA	0.617000														16			4		0	0	0.001168	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146905	70146905	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:70146905G>A	uc003hej.3	+	0	689	c.687G>A	c.(685-687)atG>atA	p.M229I	UGT2B28_uc010ihr.3_Missense_Mutation_p.M229I	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	229					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TGTGTGATATGAAGAAGTGGG	0.318000														6			17		0	0	0.004990	0	0
GFI1B	8328	broad.mit.edu	37	9	135862155	135862155	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:135862155C>T	uc004ccg.3	+	1	445	c.90C>T	c.(88-90)gcC>gcT	p.A30A	GFI1B_uc010mzy.3_Silent_p.A30A	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	30					cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GGCCTCCTGCCCTTACCCCGG	0.647000														3			9		0	0	0.006214	0	0
DSG2	1829	broad.mit.edu	37	18	29126020	29126020	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:29126020C>T	uc002kwu.4	+	14	2859	c.2671C>T	c.(2671-2673)Cca>Tca	p.P891S	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	891					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTTCCCAGTTCCAAAATCTTT	0.433000														30			16		0	0	0.004007	0	0
OR2W1	26692	broad.mit.edu	37	6	29012445	29012445	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:29012445C>T	uc003nlw.2	-	0	508	c.508G>A	c.(508-510)Gga>Aga	p.G170R	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATGTTGTTTCCACATGTGGGC	0.398000														58			20		0	0	0.001523	0	0
A4GALT	53947	broad.mit.edu	37	22	43089219	43089219	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:43089219C>T	uc003bdb.3	-	2	1000	c.739G>A	c.(739-741)Ggt>Agt	p.G247S	A4GALT_uc021wqo.1_Missense_Mutation_p.G247S|A4GALT_uc021wqp.1_Missense_Mutation_p.G247S|A4GALT_uc010gzd.3_Missense_Mutation_p.G247S|A4GALT_uc021wqq.1_Missense_Mutation_p.G247S	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	247					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						CCCTGGTGACCCCAGATCCAG	0.677000														7			3		0	0	0.004672	0	0
TUSC3	7991	broad.mit.edu	37	8	15605946	15605946	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:15605946C>T	uc003wwt.3	+	8	1344	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	TUSC3_uc003wwu.3_Missense_Mutation_p.R334C|TUSC3_uc022asi.1_Intron	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	334					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R334H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCAATATTTCGTTCCAAGTA	0.318000														55			52		0	0	0.003610	0	0
VWF	7450	broad.mit.edu	37	12	6061606	6061606	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:6061606C>T	uc001qnn.1	-	48	8316	c.8066G>A	c.(8065-8067)aGg>aAg	p.R2689K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2689					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCCTGTGACCCTCTTCTCCCA	0.502000														12			17		0	0	0.004990	0	0
SCAND3	114821	broad.mit.edu	37	6	28543685	28543685	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28543685T>A	uc003nlo.3	-	2	1415	c.797A>T	c.(796-798)gAa>gTa	p.E266V		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	266					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.E266V(2)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTCAACTGATTCCTTTTTCGC	0.353000														126			38		0	0	0.004878	0	0
CDHR2	54825	broad.mit.edu	37	5	176011632	176011632	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:176011632G>A	uc021yie.1	+	18	2624	c.2350G>A	c.(2350-2352)Gac>Aac	p.D784N	CDHR2_uc003mem.2_Missense_Mutation_p.D784N|CDHR2_uc003men.1_Missense_Mutation_p.D784N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	784	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TGAGAACCCAGACCCCCAGGG	0.617000														11			25		0	0	0.004656	0	0
MSN	4478	broad.mit.edu	37	X	64955140	64955140	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:64955140C>T	uc004dwf.3	+	7	1005	c.807C>T	c.(805-807)ttC>ttT	p.F269F		NM_002444	NP_002435	P26038	MOES_HUMAN	Homo sapiens moesin (MSN), mRNA.	269	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						ACTTCGTCTTCTATGCTCCCC	0.502000			T	ALK	ALCL									3			9		0	0	0.006214	0	0
SLC39A12	221074	broad.mit.edu	37	10	18270267	18270268	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:18270267_18270268GG>AA	uc001ipo.2	+	5	1224_1225	c.951_952GG>AA	c.(949-954)gtggag>gtAAag	p.E318K	SLC39A12_uc001ipn.2_Missense_Mutation_p.E318K|SLC39A12_uc001ipp.2_Missense_Mutation_p.E318K|SLC39A12_uc010qck.1_Missense_Mutation_p.E184K	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	318					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.E318*(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGCAGCTGGTGGAGATATTTCT	0.450000														26			17		0	0	0.004672	0	0
SEC22B	9554	broad.mit.edu	37	1	145109575	145109575	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:145109575C>T	uc001eml.1	+	3	374	c.234C>T	c.(232-234)ttC>ttT	p.F78F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) (SEC22B), mRNA.	79	Longin.				ER to Golgi vesicle-mediated transport|protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane|melanosome	protein binding										AAGCTGCCTTCCCTAAGACGT	0.433000														307			19		0	0	0.008871	0	0
NEB	4703	broad.mit.edu	37	2	152512943	152512943	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:152512943C>T	uc021vrb.1	-	46	6248	c.6219G>A	c.(6217-6219)ggG>ggA	p.G2073G	NEB_uc002txu.3_Silent_p.G2073G|NEB_uc021vrc.1_Silent_p.G2073G|NEB_uc010fnx.3_Silent_p.G2073G|NEB_uc021vrd.1_Silent_p.G2073G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2073					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAACCATTTTCCCCTTCCCTT	0.373000														45			52		0	0	0.003610	0	0
FANCI	55215	broad.mit.edu	37	15	89836049	89836049	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:89836049C>T	uc010bnp.1	+	20	2213	c.2123C>T	c.(2122-2124)tCc>tTc	p.S708F	FANCI_uc002bnm.1_Missense_Mutation_p.S708F|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.S529F|FANCI_uc002bnq.1_Missense_Mutation_p.S121F	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	708					DNA repair|cell cycle	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATATTGGAGTCCATTACTAAT	0.413000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					79			13		0	0	0.002450	0	0
NPTXR	23467	broad.mit.edu	37	22	39218644	39218644	+	Silent	SNP	G	A	A	rs145163836		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:39218644G>A	uc003awk.3	-	4	1627	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F		NM_014293	NP_055108	O95502	NPTXR_HUMAN	Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA.	491	Pentaxin.					integral to membrane	metal ion binding	p.F491F(4)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					TGCAGACATCGAAGGCAGCCT	0.622000														15			9		0	0	0.008291	0	0
SDPR	8436	broad.mit.edu	37	2	192701120	192701120	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:192701120C>T	uc002utb.3	-	1	1162	c.807G>A	c.(805-807)gaG>gaA	p.E269E		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	269						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TCTTAATCTTCTCTCTCCTCT	0.443000														116			94		0	0	0.003610	0	0
LCE1F	353137	broad.mit.edu	37	1	152748928	152748928	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152748928G>A	uc010pdv.2	+	0	81	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	27	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gccccacaccgaagtgccccc	0.657000														13			12		0	0	0.001368	0	0
SLC1A6	6511	broad.mit.edu	37	19	15065069	15065069	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:15065069G>A	uc002naa.1	-	6	1249	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	SLC1A6_uc010dzu.1_Silent_p.F336F|SLC1A6_uc010xod.1_Silent_p.F350F	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	414					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CGGGCAGGACGAACCTGGTGA	0.627000														20			28		0	0	0.002836	0	0
MSH2	4436	broad.mit.edu	37	2	47639606	47639606	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:47639606C>T	uc002rvy.1	+	3	767	c.699C>T	c.(697-699)tcC>tcT	p.S233S	MSH2_uc010yoh.1_Silent_p.S167S|MSH2_uc002rvz.3_Silent_p.S233S|MSH2_uc010fbg.2_Silent_p.S93S|MSH2_uc010fbf.1_Silent_p.S140S	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	233					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTGACTTTTCCACAAAAGACA	0.353000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					28			14		0	0	0.002450	0	0
KIAA1524	57650	broad.mit.edu	37	3	108270022	108270022	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:108270022G>A	uc003dxb.4	-	20	2961	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	898						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						ACAGTTTCTGGATTTATTTTT	0.373000														15			16		0	0	0.003163	0	0
OR5T3	390154	broad.mit.edu	37	11	56020000	56020000	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:56020000C>T	uc010rjd.2	+	0	325	c.325C>T	c.(325-327)Cca>Tca	p.P109S		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AGTTGTCACTCCAAAAATGTT	0.368000														16			36		0	0	0.004289	0	0
ATP8B4	79895	broad.mit.edu	37	15	50158637	50158637	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:50158637G>A	uc001zxu.3	-	25	3214	c.3072C>T	c.(3070-3072)ttC>ttT	p.F1024F	ATP8B4_uc010ber.3_Silent_p.F897F|ATP8B4_uc010ufd.2_Silent_p.F834F|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxt.3_Silent_p.F27F	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	1024					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCCCCCAGATGAAGACGTGAT	0.378000														19			16		0	0	0.004990	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19406906	19406906	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:19406906C>T	uc001reb.3	+	3	368	c.260C>T	c.(259-261)cCa>cTa	p.P87L	PLEKHA5_uc010sie.2_Missense_Mutation_p.P87L|PLEKHA5_uc001rea.3_Missense_Mutation_p.P87L|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_5'UTR|PLEKHA5_uc010sih.1_5'UTR|PLEKHA5_uc021qvy.1_5'Flank	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	87	WW 2.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TGCAAACATCCAGTCACAGGA	0.333000														40			68		0	0	0.003610	0	0
MED12	9968	broad.mit.edu	37	X	70356750	70356750	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:70356750C>T	uc004dyy.3	+	37	5621	c.5422C>T	c.(5422-5424)Cgg>Tgg	p.R1808W	MED12_uc011mpq.1_Missense_Mutation_p.R1808W|MED12_uc004dyz.3_Missense_Mutation_p.R1808W|MED12_uc004dza.3_Missense_Mutation_p.R1655W|MED12_uc010nla.3_Missense_Mutation_p.R434W	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1808	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGCCCGGGTCGGAGCGGCCC	0.577000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							10			15		0	0	0.003163	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170151	207170151	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:207170151T>G	uc002vbp.2	+	4	1149	c.899T>G	c.(898-900)gTt>gGt	p.V300G		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	300							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCCTTAAGAGTTAAATCTCCT	0.368000														14			9		0	0	0.008291	0	0
UBAC2	337867	broad.mit.edu	37	13	100020071	100020071	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:100020071C>T	uc010tiu.2	+	7	1239	c.904C>T	c.(904-906)Cct>Tct	p.P302S	UBAC2_uc001voa.4_Missense_Mutation_p.P280S|UBAC2_uc001vob.4_Missense_Mutation_p.P253S|UBAC2_uc010tiv.2_Non-coding_Transcript|UBAC2_uc001vod.3_Missense_Mutation_p.P167S|UBAC2_uc001voc.3_Missense_Mutation_p.P245S|UBAC2_uc010tiw.2_Non-coding_Transcript|MIR548AN_uc021rly.1_Intron|UBAC2_uc001voh.3_Missense_Mutation_p.P84S	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	280						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCGTCTTTTTCCTCCTTTACG	0.448000														14			27		0	0	0.005443	0	0
TTC29	83894	broad.mit.edu	37	4	147824788	147824788	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:147824788C>T	uc003ikx.4	-	6	822	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	TTC29_uc003ikw.4_Missense_Mutation_p.R165Q|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.R165Q	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	165							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTTAAAACATCGTTCATAGAA	0.413000														23			20		0	0	0.008871	0	0
TCL6	27004	broad.mit.edu	37	14	96129881	96129881	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:96129881C>T	uc001yep.1	+	5		c.1419C>T			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Intron|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Non-coding_Transcript|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		cacctgtttTCATGCTATCTC	0.547000			T	TRA@	T-ALL									12			7		0	0	0.001984	0	0
RASGRF1	5923	broad.mit.edu	37	15	79320162	79320162	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:79320162C>T	uc002beq.3	-	8	1677	c.1302G>A	c.(1300-1302)cgG>cgA	p.R434R	RASGRF1_uc002bep.3_Silent_p.R434R|RASGRF1_uc010blm.1_Silent_p.R356R|RASGRF1_uc002ber.4_Silent_p.R434R	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	434					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCAGGTTTTTCCGGATGTTCT	0.552000														82			23		0	0	0.003954	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826155	22826155	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:22826155C>T	uc002dli.3	+	0	296	c.224C>T	c.(223-225)cCc>cTc	p.P75L		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	75						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCCTGTGATCCCTCCGGGCCG	0.766000														4			3		0	0	0.004672	0	0
NPAS3	64067	broad.mit.edu	37	14	33836419	33836419	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:33836419C>T	uc001wru.3	+	3	477	c.413C>T	c.(412-414)cCc>cTc	p.P138L	NPAS3_uc001wrs.3_Missense_Mutation_p.P125L|NPAS3_uc001wrv.3_Missense_Mutation_p.P108L|NPAS3_uc001wrt.3_Missense_Mutation_p.P106L|NPAS3_uc001wrw.3_Missense_Mutation_p.P36L	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGGAGAAGCCCCAGTGCACTA	0.353000														10			11		0	0	0.001368	0	0
KDSR	2531	broad.mit.edu	37	18	61006117	61006117	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:61006117C>T	uc010dpw.3	-	8	849	c.694_splice	c.e8-1	p.P232_splice	KDSR_uc010xem.2_Splice_Site_p.P168_splice	NM_002035	NP_002026	Q06136	KDSR_HUMAN	Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.	232					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						TCTCCAAAGGCTAAAAGTGGA	0.333000														16			8		0	0	0.008291	0	0
SLC34A2	10568	broad.mit.edu	37	4	25673286	25673286	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:25673286G>A	uc003grr.3	+	8	1072	c.991G>A	c.(991-993)Gat>Aat	p.D331N	SLC34A2_uc003grs.3_Missense_Mutation_p.D330N|SLC34A2_uc010iev.3_Missense_Mutation_p.D330N	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	331					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.T330T(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTGTTGGACGGATGGCATCCA	0.507000			T	ROS1	NSCLC									93			59		0	0	0.003610	0	0
ZNF609	23060	broad.mit.edu	37	15	64968300	64968300	+	Silent	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:64968300T>C	uc002ann.3	+	3	3247	c.3247T>C	c.(3247-3249)Tta>Cta	p.L1083L		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1083						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATTCCCAAGTTAGATGACTC	0.572000														44			13		0	0	0.002450	0	0
PDGFRA	5156	broad.mit.edu	37	4	55139809	55139809	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:55139809C>T	uc003han.4	+	9	1801	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Silent_p.F384F|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	490	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGTGACTTTCGCCAAAGTGG	0.532000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				47			27		0	0	0.008361	0	0
FAM41C	284593	broad.mit.edu	37	1	809736	809736	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:809736C>T	uc001abt.4	-	1		c.857G>A								Homo sapiens family with sequence similarity 41, member C (FAM41C), non-coding RNA.																		CTAGAATTTTCCTTTTCTAGG	0.483000														35			30		0	0	0.006320	0	0
SPTA1	6708	broad.mit.edu	37	1	158609764	158609764	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158609764G>A	uc001fst.1	-	33	4970	c.4771C>T	c.(4771-4773)Cat>Tat	p.H1591Y		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1591					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.H1591Y(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAAGCAGATGATCCCAATGT	0.488000														52			13		0	0	0.002450	0	0
SPRY4	81848	broad.mit.edu	37	5	141694664	141694664	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:141694664G>A	uc010jgi.1	-	2	320	c.79C>T	c.(79-81)Ccg>Tcg	p.P27S	SPRY4_uc003lml.2_Missense_Mutation_p.P4S|SPRY4_uc021yet.1_Missense_Mutation_p.P4S	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	4					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGATCGGGGGCTCCATG	0.627000									Testicular Cancer, Familial Clustering of					10			16		0	0	0.003163	0	0
ZNF688	146542	broad.mit.edu	37	16	30581590	30581590	+	Missense_Mutation	SNP	C	G	G	rs71699848		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:30581590C>G	uc002dyt.2	-	2	1256	c.478G>C	c.(478-480)Gac>Cac	p.D160H	ZNF688_uc002dys.2_Missense_Mutation_p.D146H|ZNF785_uc002dyu.3_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						GTGGTCGGGTCCCAGGCAGCA	0.667000														11			10		0	0	0.008291	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999268	27999268	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:27999268C>T	uc004dbx.1	-	0	299	c.184G>A	c.(184-186)Gat>Aat	p.D62N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	62								p.D62N(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTGCTGGCATCGTTCAGGAAA	0.507000														21			36		0	0	0.002836	0	0
TMC2	117532	broad.mit.edu	37	20	2559813	2559813	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:2559813G>A	uc002wgf.1	+	5	682	c.667G>A	c.(667-669)Gac>Aac	p.D223N	TMC2_uc002wgg.1_Missense_Mutation_p.D207N|TMC2_uc010zpw.1_Missense_Mutation_p.D55N|TMC2_uc010zpx.1_Missense_Mutation_p.D54N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	223	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTAAGAGAGACTTTGATAA	0.398000														8			3		0	0	0.000602	0	0
OR2G2	81470	broad.mit.edu	37	1	247752420	247752420	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:247752420C>T	uc010pyy.2	+	0	759	c.759C>T	c.(757-759)atC>atT	p.I253I		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I253N(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			tggtcaccatcttttatggaa	0.507000														34			32		0	0	0.008361	0	0
CCR2	729230	broad.mit.edu	37	3	46399808	46399808	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:46399808C>T	uc003cpn.4	+	1	1275	c.790C>T	c.(790-792)Ctc>Ttc	p.L264F	CCR2_uc003cpm.4_Missense_Mutation_p.L264F|CCR2_uc021wxa.1_Missense_Mutation_p.L264F	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	264					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		TATTGTCATTCTCCTGAACAC	0.473000														30			52		0	0	0.003610	0	0
GPR50	9248	broad.mit.edu	37	X	150349224	150349224	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:150349224C>T	uc010ntg.2	+	1	1307	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	390	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCCCATTCCAGATCCTCC	0.582000														17			31		0	0	0.002096	0	0
DIP2B	57609	broad.mit.edu	37	12	51138597	51138597	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:51138597C>T	uc001rwv.3	+	37	4862	c.4706C>T	c.(4705-4707)cCc>cTc	p.P1569L	DIP2B_uc009zlt.3_Missense_Mutation_p.P999L	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1569						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAGTTAGACCCCATCTACGTG	0.527000														31			38		0	0	0.002522	0	0
ADRA2B	151	broad.mit.edu	37	2	96781405	96781405	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:96781405G>A	uc021vlh.1	-	0	484	c.484C>T	c.(484-486)Ccc>Tcc	p.P162S		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	162					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	p.R161H(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TTGCACTGGGGGCGCCCGCGC	0.617000														27			8		0	0	0.003080	0	0
CNBD1	168975	broad.mit.edu	37	8	88249292	88249292	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:88249292C>T	uc003ydy.2	+	5	771	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	Homo sapiens cyclic nucleotide binding domain containing 1 (CNBD1), mRNA.	241										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GTGAAGAATTCAAAAACTCTA	0.388000														19			16		0	0	0.007413	0	0
ADH1B	125	broad.mit.edu	37	4	100237184	100237184	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:100237184G>A	uc003hus.4	-	4	522	c.438C>T	c.(436-438)acC>acT	p.T146T	ADH1B_uc003hut.4_Silent_p.T106T|ADH1B_uc011ceh.2_Intron|ADH1B_uc011cei.1_Silent_p.T106T	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	146					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACTGGGAGAAGGTGCTGGTGC	0.587000														37			27		0	0	0.005443	0	0
CGNL1	84952	broad.mit.edu	37	15	57730548	57730548	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:57730548G>A	uc010bfw.3	+	2	544	c.351G>A	c.(349-351)ctG>ctA	p.L117L	CGNL1_uc002aeg.3_Silent_p.L117L	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	117	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TAAGAAACCTGAAACAGCCCC	0.507000														43			8		0	0	0.006214	0	0
NCOR1	9611	broad.mit.edu	37	17	15983350	15983350	+	Silent	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:15983350A>G	uc002gpo.3	-	25	3698	c.3429T>C	c.(3427-3429)agT>agC	p.S1143S	NCOR1_uc002gpn.3_Silent_p.S1159S|NCOR1_uc002gpp.1_Silent_p.S1050S|NCOR1_uc010vwb.2_5'UTR|NCOR1_uc010coy.3_Silent_p.S51S|NCOR1_uc010vwc.2_5'UTR	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1143	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCCGAGTTATACTTCCTTCTT	0.463000														20			27		0	0	0.002445	0	0
RHOU	58480	broad.mit.edu	37	1	228873457	228873457	+	Silent	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:228873457A>G	uc001htf.3	+	1	966	c.300A>G	c.(298-300)caA>caG	p.Q100Q	RHOU_uc021pkj.1_Non-coding_Transcript	NM_021205	NP_067028	Q7L0Q8	RHOU_HUMAN	Homo sapiens ras homolog gene family, member U (RHOU), transcript variant 1, mRNA.	100					regulation of small GTPase mediated signal transduction	Golgi membrane|cell projection|cytosol|focal adhesion|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				TGAGACTCCAACTCTGTGACA	0.458000														53			8		0	0	0.006214	0	0
SLC25A39	51629	broad.mit.edu	37	17	42397640	42397640	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:42397640G>A	uc002ign.2	-	10	1042	c.888C>T	c.(886-888)aaC>aaT	p.N296N	SLC25A39_uc002igm.2_Silent_p.N288N|SLC25A39_uc010wiw.1_Silent_p.N273N	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	296					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CATGCAGGGGGTTCACTGCAA	0.657000														7			37		0	0	0.005524	0	0
DPP4	1803	broad.mit.edu	37	2	162894889	162894889	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:162894889T>C	uc002ubz.3	-	7	1097	c.536A>G	c.(535-537)aAt>aGt	p.N179S	DPP4_uc010fpb.3_5'UTR|DPP4_uc002uca.1_Non-coding_Transcript|DPP4_uc002ucb.1_Non-coding_Transcript	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	179					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ACTTGGTAAATTTGGTTCAAT	0.299000														22			15		0	0	0.003163	0	0
MORC4	79710	broad.mit.edu	37	X	106185956	106185956	+	Missense_Mutation	SNP	C	G	G	rs149926328		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:106185956C>G	uc004emu.4	-	14	2440	c.2165G>C	c.(2164-2166)cGa>cCa	p.R722P	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.R722P|MORC4_uc004emw.4_Missense_Mutation_p.R470P	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	722							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AACTGCTTTTCGTCTCTCAGC	0.512000														26			41		0	0	0.006999	0	0
OR4N4	283694	broad.mit.edu	37	15	22382571	22382571	+	Silent	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:22382571T>A	uc001yuc.1	+	6	1080	c.99T>A	c.(97-99)atT>atA	p.I33I	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Silent_p.I33I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGATCTTAATTTTCTACCTTA	0.413000														178			26		0	0	0.001786	0	0
IARS2	55699	broad.mit.edu	37	1	220267774	220267774	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:220267774C>T	uc001hmc.3	+	0	320	c.216C>T	c.(214-216)ccC>ccT	p.P72P	RNU5F-1_uc021pjd.1_Intron	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	72					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CGAGCTTCCCCATGAAGCTGC	0.697000														6			8		0	0	0.004482	0	0
COL28A1	340267	broad.mit.edu	37	7	7516759	7516759	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:7516759C>T	uc003src.1	-	13	1334	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	COL28A1_uc011jxe.1_Missense_Mutation_p.G89E|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	406					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTGGAAATCCTTCTCCGGG	0.473000														38			46		0	0	0.003610	0	0
NCAN	1463	broad.mit.edu	37	19	19338113	19338113	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:19338113C>T	uc002nlz.3	+	7	1783	c.1684C>T	c.(1684-1686)Cca>Tca	p.P562S	NCAN_uc010ecc.1_Missense_Mutation_p.P126S	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	562					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CAAGAGCTCCCCAGAGCCCTG	0.612000														22			36		0	0	0.006999	0	0
EYA1	2138	broad.mit.edu	37	8	72211355	72211355	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:72211355G>A	uc003xyu.3	-	8	1393	c.753C>T	c.(751-753)tcC>tcT	p.S251S	EYA1_uc003xyt.4_Silent_p.S218S|EYA1_uc003xyr.4_Silent_p.S246S|EYA1_uc010lzf.3_Silent_p.S178S|EYA1_uc003xys.4_Silent_p.S251S|EYA1_uc011lfe.2_Silent_p.S245S|EYA1_uc003xyv.3_Silent_p.S129S	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	251					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.S251F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGGCATTGGTGGATGGTGTCG	0.483000														52			22		0	0	0.003330	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224405	172224405	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:172224405G>A	uc003fid.3	-	4	846	c.723C>T	c.(721-723)tcC>tcT	p.S241S	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	241					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTTGATAGATGGAATAGAGTC	0.333000														44			18		0	0	0.001523	0	0
CDH10	1008	broad.mit.edu	37	5	24509751	24509751	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:24509751G>A	uc003jgr.2	-	6	1686	c.1180C>T	c.(1180-1182)Cat>Tat	p.H394Y	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	394	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATATCTTCATGAACTTCAAAC	0.383000										HNSCC(23;0.051)				20			15		0	0	0.003163	0	0
OR2T33	391195	broad.mit.edu	37	1	248436395	248436395	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248436395G>A	uc010pzi.2	-	0	722	c.722C>T	c.(721-723)tCa>tTa	p.S241L		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S241T(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGCCACATGTGAAGAGCAGGT	0.517000														36			5		0	0	0.004482	0	0
RGL1	23179	broad.mit.edu	37	1	183835180	183835180	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:183835180C>T	uc001gqm.3	+	4	964	c.503C>T	c.(502-504)tCa>tTa	p.S168L	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.S131L|RGL1_uc010poh.2_Missense_Mutation_p.S131L|RGL1_uc001gqo.3_Missense_Mutation_p.S133L|RGL1_uc010poi.2_Missense_Mutation_p.S133L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	133	N-terminal Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AGCCAAAGTTCATCAGAGTCC	0.388000														31			11		0	0	0.001368	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346577	70346577	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:70346577C>T	uc003hek.4	-	5	1409	c.1362G>A	c.(1360-1362)gtG>gtA	p.V454V	UGT2B4_uc011cap.2_Silent_p.V318V|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	454					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAGGGGCTTCACTGGTTGAT	0.418000														69			29		0	0	0.007291	0	0
TCF4	6925	broad.mit.edu	37	18	53070731	53070731	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:53070731G>A	uc002lga.3	-	6	689	c.629C>T	c.(628-630)tCa>tTa	p.S210L	TCF4_uc010xdu.1_5'Flank|TCF4_uc010xdv.1_5'Flank|TCF4_uc021uki.1_Missense_Mutation_p.S38L|TCF4_uc002lfx.2_Missense_Mutation_p.S38L|TCF4_uc010xdw.1_5'UTR|TCF4_uc002lfy.2_Missense_Mutation_p.S66L|TCF4_uc010xdx.1_Missense_Mutation_p.S84L|TCF4_uc021ukj.1_Missense_Mutation_p.S108L|TCF4_uc021ukk.1_Missense_Mutation_p.S108L|TCF4_uc021ukl.1_Missense_Mutation_p.S106L|TCF4_uc002lfz.2_Missense_Mutation_p.S108L|TCF4_uc010dph.1_Missense_Mutation_p.S108L|TCF4_uc010dpi.3_Missense_Mutation_p.S108L|TCF4_uc010xdy.1_Missense_Mutation_p.S84L|TCF4_uc002lgc.4_Missense_Mutation_p.S29L|TCF4_uc021ukm.1_5'Flank	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	108					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGATGAGTATGAGCCCCTTTC	0.408000														60			21		0	0	0.001882	0	0
BPIFB3	359710	broad.mit.edu	37	20	31659974	31659974	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:31659974G>A	uc002wym.1	+	13	1324	c.1324_splice	c.e13+1	p.V442_splice		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	442					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										AAGCTTAACGGTATGGCAGGT	0.517000														49			30		0	0	0.003755	0	0
ADCY8	114	broad.mit.edu	37	8	131812783	131812783	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:131812783C>T	uc003ytd.4	-	14	3205	c.2949G>A	c.(2947-2949)gtG>gtA	p.V983V	ADCY8_uc010mds.3_Silent_p.V852V	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	983					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.V983V(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGGCAAACATCACCCCAACAG	0.493000										HNSCC(32;0.087)				47			17		0	0	0.007413	0	0
AJAP1	55966	broad.mit.edu	37	1	4772338	4772338	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:4772338C>T	uc001alm.1	+	1	789	c.408C>T	c.(406-408)tcC>tcT	p.S136S	AJAP1_uc001aln.3_Silent_p.S136S	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	136					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CGTCCTCGTCCTCGTCCTCCG	0.721000														5			5		0	0	0.001168	0	0
POLA2	23649	broad.mit.edu	37	11	65062070	65062070	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:65062070C>T	uc001odj.3	+	14	1739	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F	POLA2_uc010rod.1_Silent_p.F261F|POLA2_uc001odk.3_Silent_p.F166F	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	469					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	p.F469F(3)		endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GAGTGATCTTCGGCTTGACAT	0.493000														32			38		0	0	0.002852	0	0
GSDMB	55876	broad.mit.edu	37	17	38063221	38063221	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:38063221G>A	uc010cwj.3	-	6	851	c.720C>T	c.(718-720)tcC>tcT	p.S240S	GSDMB_uc010cwi.3_Intron|GSDMB_uc010cwl.3_Intron|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Intron|GSDMB_uc002hth.3_Silent_p.S227S|GSDMB_uc010wem.2_Intron	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	237						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TACCTAAACAGGATGAAGCAC	0.522000														56			30		0	0	0.003755	0	0
CNGB1	1258	broad.mit.edu	37	16	58001052	58001052	+	Missense_Mutation	SNP	C	T	T	rs78149232	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:58001052C>T	uc002emt.2	-	1	204	c.139G>A	c.(139-141)Gag>Aag	p.E47K	CNGB1_uc010cdh.2_Missense_Mutation_p.E47K|CNGB1_uc002emu.2_Missense_Mutation_p.E47K	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	47	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GACTCTGTCTCGGCCTCCTCA	0.627000														27			41		0	0	0.003610	0	0
WNT8B	7479	broad.mit.edu	37	10	102239735	102239735	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:102239735C>T	uc001krb.3	+	2	321	c.207C>T	c.(205-207)gcC>gcT	p.A69A		NM_003393	NP_003384	Q93098	WNT8B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8B (WNT8B), mRNA.	69					Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CTGAGAGAGCCCTGCAGCTGT	0.572000														32			13		0	0	0.001368	0	0
HLA-C	3107	broad.mit.edu	37	6	31237825	31237825	+	Silent	SNP	G	A	A	rs45486697		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31237825G>A	uc003nsy.3	-	4	998	c.933C>T	c.(931-933)atC>atT	p.I311I	HLA-C_uc021yuk.1_Silent_p.I190I|HLA-C_uc011dnj.2_Silent_p.I283I|HLA-C_uc011dnl.2_Silent_p.I190I	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, C (HLA-C), transcript variant 1, mRNA.	311					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGCCAGCAACGATGCCCATGA	0.607000														30			23		0	0	0.002780	0	0
ZAP70	7535	broad.mit.edu	37	2	98349462	98349462	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:98349462C>T	uc002syd.1	+	4	887	c.680C>T	c.(679-681)aCc>aTc	p.T227I	ZAP70_uc010yvf.1_Missense_Mutation_p.T227I|ZAP70_uc002sye.1_Missense_Mutation_p.T117I|ZAP70_uc002syf.1_5'Flank	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	227	SH2 2.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCGAGGGCACCAAGTTTGAC	0.607000														20			21		0	0	0.002299	0	0
UGT2B17	7367	broad.mit.edu	37	4	69434189	69434189	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:69434189C>T	uc021xov.1	-	0	57	c.14G>A	c.(13-15)tGg>tAg	p.W5*		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	5					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GACTGACATCCATTTCAGAGA	0.408000														164			89		0	0	0.003610	0	0
ADAM2	2515	broad.mit.edu	37	8	39613303	39613303	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:39613303G>A	uc003xnj.3	-	15	1816	c.1741C>T	c.(1741-1743)Cat>Tat	p.H581Y	ADAM2_uc003xnk.3_Missense_Mutation_p.H562Y|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Missense_Mutation_p.H425Y	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	581	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.H581P(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGTCTGCATGATCACTGGCA	0.333000														27			19		0	0	0.007413	0	0
LELP1	149018	broad.mit.edu	37	1	153177315	153177315	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:153177315C>T	uc001fbl.3	+	1	242	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LELP1_uc021ozv.1_Silent_p.F44F	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	44	Cys/Pro-rich.							p.F44F(2)|p.C43S(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACGCTGTTTCGAAAAGTGCC	0.567000														55			27		0	0	0.008361	0	0
ASTN2	23245	broad.mit.edu	37	9	119802190	119802190	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:119802190G>A	uc004bjt.2	-	4	1279	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F	ASTN2_uc022bml.1_Missense_Mutation_p.S93F|ASTN2_uc022bmm.1_Missense_Mutation_p.S93F	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	444						integral to membrane		p.S393F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGATGCAGGAACTCACAGC	0.498000														8			15		0	0	0.002450	0	0
ARAP3	64411	broad.mit.edu	37	5	141059915	141059915	+	Silent	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:141059915A>G	uc003llm.3	-	1	217	c.139T>C	c.(139-141)Ttg>Ctg	p.L47L	ARAP3_uc003lln.3_5'UTR|ARAP3_uc003llo.1_Silent_p.L47L	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	47	SAM.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTGATGCCCAACTGCTTCAAC	0.627000														12			21		0	0	0.003954	0	0
CFH	3075	broad.mit.edu	37	1	196642191	196642191	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:196642191G>A	uc001gtj.4	+	1	382	c.142G>A	c.(142-144)Gct>Act	p.A48T	CFH_uc001gti.4_Missense_Mutation_p.A48T|CFH_uc009wyw.3_Missense_Mutation_p.A48T|CFH_uc009wyx.3_Missense_Mutation_p.A48T	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	48	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AGGCACCCAGGCTATCTATAA	0.398000														9			12		0	0	0.000978	0	0
FMO4	2329	broad.mit.edu	37	1	171292163	171292163	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:171292163G>A	uc001gho.3	+	3	370	c.153G>A	c.(151-153)atG>atA	p.M51I		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	51					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AAGATGGGATGACCAGGGTCT	0.423000														20			23		0	0	0.003330	0	0
RXFP2	122042	broad.mit.edu	37	13	32376410	32376410	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:32376410G>A	uc001utt.3	+	17	2204	c.2133G>A	c.(2131-2133)agG>agA	p.R711R	RXFP2_uc010aba.3_Silent_p.R687R	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	711						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AACATCAGAGGAAATCAATTT	0.353000														17			51		0	0	0.003610	0	0
GPR158	57512	broad.mit.edu	37	10	25464844	25464844	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:25464844G>A	uc001isj.3	+	0	555	c.495G>A	c.(493-495)ctG>ctA	p.L165L	LOC100128811_uc010qde.1_Silent_p.S36S	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	165						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGCCTTCTGGAGGGCGAGC	0.637000														35			6		0	0	0.001984	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951054	30951054	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:30951054G>A	uc003aig.1	-	3	1298	c.1158C>T	c.(1156-1158)caC>caT	p.H386H	GAL3ST1_uc003aih.1_Silent_p.H386H|GAL3ST1_uc003aii.1_Silent_p.H386H|GAL3ST1_uc010gvz.1_Silent_p.H386H	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	386					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						AGAGCTGCGCGTGCCGCTGCC	0.647000														38			25		0	0	0.005443	0	0
SUSD2	56241	broad.mit.edu	37	22	24581204	24581204	+	Missense_Mutation	SNP	G	A	A	rs139873837		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:24581204G>A	uc002zzn.1	+	5	969	c.925G>A	c.(925-927)Gag>Aag	p.E309K		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	309	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTTCCTGGAGGAGCTGCCGGA	0.672000														16			14		0	0	0.003163	0	0
OR51B6	390058	broad.mit.edu	37	11	5372760	5372760	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:5372760C>T	uc010qzb.2	+	0	23	c.23C>T	c.(22-24)tCc>tTc	p.S8F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTCTGCTTCCACCTTCCAG	0.448000														7			14		0	0	0.004990	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811554	5811554	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:5811554C>T	uc010ndi.3	-	6	2330	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	NLGN4X_uc004crp.3_Silent_p.T605T|NLGN4X_uc010ndh.3_Silent_p.T585T|NLGN4X_uc004crq.3_Silent_p.T585T|NLGN4X_uc004crr.3_Silent_p.T585T|NLGN4X_uc010ndj.3_Silent_p.T585T	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	585					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.T585T(2)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AAGCCACTTTCGTTGCCCGGT	0.463000														32			55		0	0	0.003610	0	0
PRDM9	56979	broad.mit.edu	37	5	23527654	23527654	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:23527654C>T	uc003jgo.3	+	10	2639	c.2457C>T	c.(2455-2457)ctC>ctT	p.L819L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	819					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGTCACACCTCCTCAGACACC	0.562000										HNSCC(3;0.000094)				55			71		0	0	0.003610	0	0
TACR3	6870	broad.mit.edu	37	4	104640463	104640463	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:104640463G>A	uc003hxe.1	-	0	511	c.370C>T	c.(370-372)Ctt>Ttt	p.L124F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	124						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGGTTCACAAGGAAGTAGTTG	0.537000														34			17		0	0	0.004007	0	0
GIF	2694	broad.mit.edu	37	11	59604768	59604768	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:59604768C>T	uc001noi.3	-	5	798	c.750G>A	c.(748-750)acG>acA	p.T250T		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	250					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GTATCATATCCGTAGTCTTCT	0.443000														9			12		0	0	0.001855	0	0
EXTL3	2137	broad.mit.edu	37	8	28574278	28574278	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:28574278C>T	uc003xgz.1	+	2	1295	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	234						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.I234I(2)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ATGCAGACATCGCCTGCCTTT	0.542000														54			8		0	0	0.004482	0	0
FAM155A	728215	broad.mit.edu	37	13	108518740	108518740	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:108518740C>T	uc001vql.3	-	0	721	c.205G>A	c.(205-207)Gac>Aac	p.D69N		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	69						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						tgctCCTTGTCCCGGGCCCGG	0.637000														14			37		0	0	0.004289	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138969	126138969	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:126138969C>T	uc001uhe.1	+	8	2958	c.2950C>T	c.(2950-2952)Ctt>Ttt	p.L984F	TMEM132B_uc001uhf.1_Missense_Mutation_p.L496F	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	984						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GAGGAACTTCCTTCTGAATGG	0.433000														16			5		0	0	0.000602	0	0
MTOR	2475	broad.mit.edu	37	1	11264758	11264758	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11264758G>A	uc001asd.3	-	25	3925	c.3804C>T	c.(3802-3804)gcC>gcT	p.A1268A		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1268					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGCGCCCCAGGCCTGTGATC	0.488000														15			4		0	0	0.001168	0	0
BCAM	4059	broad.mit.edu	37	19	45322847	45322847	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:45322847C>T	uc002ozu.3	+	12	1671	c.1627C>T	c.(1627-1629)Cag>Tag	p.Q543*	BCAM_uc002ozt.1_Nonsense_Mutation_p.Q543*	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	543					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGTGAGCCCCCAGACCTCCCA	0.667000														33			51		0	0	0.003610	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049324	36049324	+	Silent	SNP	G	A	A	rs148290056	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:36049324G>A	uc003jjz.2	-	3	642	c.510C>T	c.(508-510)ttC>ttT	p.F170F	UGT3A2_uc011cos.2_Silent_p.F136F|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	170						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)			CCAAAGAGCCGAATGAAGTGG	0.453000														26			27		0	0	0.006320	0	0
OXR1	55074	broad.mit.edu	37	8	107722882	107722882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:107722882C>T	uc011lht.2	+	8	1759	c.1660C>T	c.(1660-1662)Cga>Tga	p.R554*	OXR1_uc022azp.1_Nonsense_Mutation_p.R553*|OXR1_uc003ymf.3_Nonsense_Mutation_p.R553*|OXR1_uc011lhu.2_Nonsense_Mutation_p.R546*|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Nonsense_Mutation_p.R251*	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	554					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GCAAAGGCATCGATTACATAA	0.358000														22			4		0	0	0.000602	0	0
SP6	80320	broad.mit.edu	37	17	45925172	45925172	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:45925172C>T	uc002imh.1	-	1	902	c.624G>A	c.(622-624)ggG>ggA	p.G208G	SP6_uc002img.1_Silent_p.G208G|SP6_uc021tzc.1_Silent_p.G208G	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						GACGCGCCGCCCCGTCCAGGC	0.716000														13			11		0	0	0.002450	0	0
PITPNM1	9600	broad.mit.edu	37	11	67262928	67262928	+	Silent	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:67262928G>T	uc001olx.3	-	14	2652	c.2463C>A	c.(2461-2463)acC>acA	p.T821T	PITPNM1_uc001olw.3_Silent_p.T103T|PITPNM1_uc001oly.3_Silent_p.T821T|PITPNM1_uc001olz.3_Silent_p.T820T	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	821	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCTCACTGGTGGTGCTGGGGG	0.642000														1			7		1.12685e-05	1.71893e-05	0.004482	1	0
CCDC54	84692	broad.mit.edu	37	3	107096542	107096542	+	Silent	SNP	G	A	A	rs141662259	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:107096542G>A	uc003dwi.1	+	0	355	c.108G>A	c.(106-108)aaG>aaA	p.K36K		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	36										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ACAAATGTAAGATTCGGCACC	0.403000														70			12		0	0	0.001368	0	0
BPIFB2	80341	broad.mit.edu	37	20	31598913	31598913	+	Nonsense_Mutation	SNP	C	T	T	rs147239233		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:31598913C>T	uc002wyj.3	+	2	387	c.193C>T	c.(193-195)Cag>Tag	p.Q65*		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	65						extracellular region	lipid binding										AGAGGCGCTTCAGCCCACCAG	0.622000														62			11		0	0	0.008291	0	0
SPANXN3	139067	broad.mit.edu	37	X	142596644	142596644	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:142596644C>T	uc004fbw.3	-	1	514	c.426G>A	c.(424-426)taG>taA	p.*142*		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	0										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGTGTGACTAATCCTCCC	0.433000														19			35		0	0	0.003755	0	0
KCNG1	3755	broad.mit.edu	37	20	49626147	49626147	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:49626147G>A	uc002xwa.4	-	1	1024	c.729C>T	c.(727-729)aaC>aaT	p.N243N	KCNG1_uc002xwb.3_Silent_p.N243N	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	243						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TGACGGAGAGGTTGACGGCGG	0.682000														13			6		0	0	0.003080	0	0
PDGFC	56034	broad.mit.edu	37	4	157689054	157689054	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:157689054C>T	uc003iph.2	-	4	1283	c.792G>A	c.(790-792)aaG>aaA	p.K264K	PDGFC_uc003ipi.2_Silent_p.K101K|PDGFC_uc011cis.2_Silent_p.K101K|PDGFC_uc011cir.2_Silent_p.K108K	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	264					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TATCGGTTCTCTTTAGTTCTT	0.448000														76			27		0	0	0.007291	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779021	31779021	+	Silent	SNP	G	A	A	rs140616297	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31779021G>A	uc003nxh.3	-	1	912	c.729C>T	c.(727-729)ttC>ttT	p.F243F	HSPA1L_uc010jte.3_Silent_p.F243F|HSPA1L_uc021yuz.1_Silent_p.F243F	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	243					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACTCCTCCACGAAGTGGCTCA	0.557000														414			153		0	0	0.003610	0	0
ZNF626	199777	broad.mit.edu	37	19	20808123	20808123	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:20808123G>A	uc002npb.1	-	3	710	c.560C>T	c.(559-561)aCt>aTt	p.T187I	ZNF626_uc002npc.1_Missense_Mutation_p.T111I	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TGTAGTAAGAGTTGAGAACTG	0.363000														8			16		0	0	0.004007	0	0
MMP24	10893	broad.mit.edu	37	20	33834786	33834786	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:33834786G>A	uc002xbu.2	+	1	393	c.390G>A	c.(388-390)acG>acA	p.T130T	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	130					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATCAGACAACGATCGAGTAAG	0.522000														54			43		0	0	0.003610	0	0
LRRC10	376132	broad.mit.edu	37	12	70004303	70004303	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:70004303C>T	uc001svc.3	-	0	640	c.316G>A	c.(316-318)Ggc>Agc	p.G106S		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	Homo sapiens leucine rich repeat containing 10 (LRRC10), mRNA.	106						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGTTGTTGCCCAGGTAGAGG	0.572000														31			5		0	0	0.000602	0	0
CNGA1	1259	broad.mit.edu	37	4	47938625	47938625	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:47938625C>T	uc003gxu.3	-	9	2234	c.2093G>A	c.(2092-2094)cGa>cAa	p.R698Q	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.R629Q	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	629					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CCCCTCCATTCGAGTAACCTT	0.433000														95			37		0	0	0.006999	0	0
TRANK1	9881	broad.mit.edu	37	3	36899218	36899218	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:36899218C>T	uc003cgj.3	-	11	2111	c.1863G>A	c.(1861-1863)ggG>ggA	p.G621G		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	621					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGAGAGCTTCCCCAGGTGGG	0.572000														31			54		0	0	0.003610	0	0
SYT16	83851	broad.mit.edu	37	14	62463079	62463079	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:62463079G>T	uc001xfu.1	+	0	539	c.342G>T	c.(340-342)aaG>aaT	p.K114N	SYT16_uc010tsd.1_Missense_Mutation_p.K114N	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	114										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AACATGCAAAGGACTCATGTT	0.458000														31			43		2.47872e-24	3.81514e-24	0.002522	1	0
NOTUM	147111	broad.mit.edu	37	17	79913410	79913410	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:79913410G>A	uc010wvg.2	-	8	1271	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	333						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTGCACCACGAACACAGGGC	0.701000														9			31		0	0	0.002222	0	0
SLC27A4	10999	broad.mit.edu	37	9	131115732	131115732	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:131115732C>T	uc004but.3	+	8	1521	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	412					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCCTGTCCTTCGTGTACCCCA	0.617000														22			46		0	0	0.003610	0	0
SMAD9	4093	broad.mit.edu	37	13	37446898	37446898	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:37446898G>A	uc001uvw.3	-	2	910	c.567C>T	c.(565-567)ctC>ctT	p.L189L	SMAD9_uc001uvx.3_Silent_p.L189L|SMAD9_uc010tep.2_Silent_p.L19L	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	189					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GTGAGGGAGGGAGTGCAGAGC	0.622000														14			20		0	0	0.001882	0	0
CCDC27	148870	broad.mit.edu	37	1	3673304	3673304	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:3673304C>T	uc001akv.2	+	3	642	c.561C>T	c.(559-561)ctC>ctT	p.L187L		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	187										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CAGGGTACCTCCTTCCCTTCA	0.557000														52			46		0	0	0.003610	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628589	51628589	+	Missense_Mutation	SNP	C	T	T	rs147625837		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:51628589C>T	uc010yct.2	+	0	453	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	SIGLEC9_uc002pvu.3_Missense_Mutation_p.R120C	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	120	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ATACTTCTTTCGTATGGAGAA	0.498000														10			26		0	0	0.003330	0	0
USH2A	7399	broad.mit.edu	37	1	216073536	216073536	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:216073536G>A	uc001hku.1	-	39	7862	c.7475C>T	c.(7474-7476)tCg>tTg	p.S2492L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2492	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATAGCTTAACGATGCAGAAGG	0.368000										HNSCC(13;0.011)				18			15		0	0	0.004007	0	0
BEND2	139105	broad.mit.edu	37	X	18234686	18234686	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:18234686G>A	uc004cyj.4	-	1	347	c.193C>T	c.(193-195)Cca>Tca	p.P65S	BEND2_uc010nfb.2_Missense_Mutation_p.P65S	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	65										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTGCCGCCTGGAAAATTTGGT	0.413000														16			43		0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94031949	94031949	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:94031949G>A	uc011cdt.2	+	3	838	c.580G>A	c.(580-582)Gat>Aat	p.D194N	GRID2_uc010ikx.3_Missense_Mutation_p.D194N|GRID2_uc011cdu.2_Missense_Mutation_p.D99N|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	194					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.M193I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GCAGGGAATGGATGTTGCACT	0.393000														76			48		0	0	0.003610	0	0
OSBPL6	114880	broad.mit.edu	37	2	179213955	179213955	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179213955C>T	uc002uly.3	+	12	1611	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L	OSBPL6_uc002ulw.3_Missense_Mutation_p.P300L|OSBPL6_uc002ulx.3_Missense_Mutation_p.P331L|OSBPL6_uc010zfe.2_Missense_Mutation_p.P300L|OSBPL6_uc002ulz.3_Missense_Mutation_p.P331L|OSBPL6_uc002uma.3_Missense_Mutation_p.P335L	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	331					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTTCAGGTTCCTTTCAGTGCT	0.433000														44			59		0	0	0.003610	0	0
C20orf79	140856	broad.mit.edu	37	20	18794751	18794751	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:18794751G>A	uc002wrk.3	+	0	382	c.292G>A	c.(292-294)Gga>Aga	p.G98R	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	98	SCP2.						sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						CATGTATCCGGGACCTGCCAG	0.502000														20			15		0	0	0.008871	0	0
MGAM	8972	broad.mit.edu	37	7	141763375	141763375	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:141763375C>T	uc003vwy.3	+	35	4388	c.4334C>T	c.(4333-4335)cCc>cTc	p.P1445L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1445	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AACCACCCTCCCTACATGCCA	0.557000														0			9		0	0	0.006214	0	0
SSTR4	6754	broad.mit.edu	37	20	23016129	23016129	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:23016129C>T	uc002wsr.2	+	0	73	c.9C>T	c.(7-9)gcC>gcT	p.A3A		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	3					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCATGAGCGCCCCCTCGACGC	0.786000														5			4		0	0	0.000602	0	0
ZNF830	91603	broad.mit.edu	37	17	33289302	33289302	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:33289302A>T	uc002hih.4	+	0	754	c.717A>T	c.(715-717)agA>agT	p.R239S	CCT6B_uc002hig.3_5'Flank|CCT6B_uc010ctg.3_5'Flank|CCT6B_uc010wcc.2_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	Homo sapiens zinc finger protein 830 (ZNF830), mRNA.	239					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TGGAAAGGAGAGAAAACACCG	0.438000														8			7		0	0	0.003080	0	0
CGNL1	84952	broad.mit.edu	37	15	57731424	57731424	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:57731424G>A	uc010bfw.3	+	2	1420	c.1227G>A	c.(1225-1227)agG>agA	p.R409R	CGNL1_uc002aeg.3_Silent_p.R409R	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	409	Head.					myosin complex|tight junction	motor activity	p.S408N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AATTCAGTAGGAACTTGGGCA	0.557000														60			17		0	0	0.006122	0	0
CDH12	1010	broad.mit.edu	37	5	21842281	21842281	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:21842281C>T	uc010iuc.2	-	4	1261	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	CDH12_uc011cno.1_Missense_Mutation_p.R228Q|CDH12_uc003jgk.2_Missense_Mutation_p.R268Q	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	268	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTGGGGAATCGAGGTGGATT	0.403000										HNSCC(59;0.17)				54			79		0	0	0.003610	0	0
MYH6	4624	broad.mit.edu	37	14	23868226	23868226	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:23868226G>A	uc001wjv.3	-	14	1673	c.1602C>T	c.(1600-1602)atC>atT	p.I534I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	534	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCCTCCAGGATGGACATGA	0.552000														13			23		0	0	0.003330	0	0
OR4D5	219875	broad.mit.edu	37	11	123810703	123810703	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:123810703C>T	uc001pzk.1	+	0	380	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I126V(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ATTGCCATTTCCCAGCCCCTG	0.507000														25			37		0	0	0.006999	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130404819	130404819	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:130404819C>T	uc003qbt.3	+	14	1552	c.1376C>T	c.(1375-1377)tCt>tTt	p.S459F	L3MBTL3_uc003qbu.3_Missense_Mutation_p.S434F	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	Homo sapiens l(3)mbt-like 3 (Drosophila) (L3MBTL3), transcript variant 1, mRNA.	459					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAAACCAATTCTTTACCTGCT	0.299000														10			11		0	0	0.002450	0	0
AXDND1	126859	broad.mit.edu	37	1	179494553	179494553	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:179494553C>T	uc001gmo.3	+	21	2968	c.2581C>T	c.(2581-2583)Cag>Tag	p.Q861*	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	861	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TAGGAAACTTCAGGAGGAAAA	0.333000														30			7		0	0	0.003080	0	0
ASTN1	460	broad.mit.edu	37	1	176833486	176833486	+	Silent	SNP	C	T	T	rs61758730	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:176833486C>T	uc001glc.3	-	22	4031	c.3819G>A	c.(3817-3819)agG>agA	p.R1273R	ASTN1_uc001glb.1_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1281					cell migration|neuron cell-cell adhesion	integral to membrane		p.R1273K(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACACGTCTTCCTGAGGTCCC	0.572000														72			23		0	0	0.001882	0	0
PNMA2	10687	broad.mit.edu	37	8	26366022	26366022	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:26366022C>T	uc022atc.1	-	0	250	c.250G>A	c.(250-252)Gga>Aga	p.G84R	PNMA2_uc003xez.2_Missense_Mutation_p.G84R	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	84					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		cccccctttccctggacctca	0.483000														47			6		0	0	0.001984	0	0
TGM5	9333	broad.mit.edu	37	15	43531403	43531403	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:43531403C>T	uc001zrd.2	-	7	1071	c.1063G>A	c.(1063-1065)Ggc>Agc	p.G355S	TGM5_uc001zrc.2_Missense_Mutation_p.G12S|TGM5_uc001zre.2_Missense_Mutation_p.G273S	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	355					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	ACCTGCCAGCCTCCATATGCA	0.602000														30			11		0	0	0.001855	0	0
MPP6	51678	broad.mit.edu	37	7	24681342	24681342	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:24681342A>C	uc003swx.3	+	3	424	c.125A>C	c.(124-126)gAg>gCg	p.E42A	MPP6_uc003swy.3_Missense_Mutation_p.E42A	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	42	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CAGGCTCATGAGAGGCTAGAA	0.303000														40			6		0	0	0.003080	0	0
TSHR	7253	broad.mit.edu	37	14	81610058	81610058	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:81610058C>T	uc001xvd.1	+	9	1812	c.1656C>T	c.(1654-1656)ctC>ctT	p.L552L		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	552					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.L552L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCTTCCTTCTCGCCCTGCTTC	0.557000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							8			32		0	0	0.002445	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27841288	27841288	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:27841288C>T	uc001ric.2	+	24	2823	c.2446C>T	c.(2446-2448)Ctg>Ttg	p.L816L	PPFIBP1_uc010sjr.1_Silent_p.L647L|PPFIBP1_uc001rib.2_Silent_p.L810L|PPFIBP1_uc001ria.3_Silent_p.L785L|PPFIBP1_uc001rid.2_Silent_p.L663L|PPFIBP1_uc001rif.2_Silent_p.L323L|TRNA_Lys_uc021qwh.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	816	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GATGGAGTGGCTGCGCTCCGT	0.453000														202			89		0	0	0.003610	0	0
DNAAF3	352909	broad.mit.edu	37	19	55670924	55670924	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55670924C>T	uc002qjl.1	-	10	1418	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	TNNI3_uc002qjg.4_5'Flank|TNNI3_uc010yft.2_5'Flank|DNAAF3_uc002qjh.1_Silent_p.G220G|DNAAF3_uc002qji.1_Silent_p.G405G|DNAAF3_uc002qjj.1_Silent_p.G452G|DNAAF3_uc002qjk.1_Silent_p.G351G	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	405																	CAATCAAGTTCCCTCCGGGTG	0.587000														27			40		0	0	0.003610	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142295	48142295	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:48142295C>T	uc001rpz.4	-	11	1735	c.1185G>A	c.(1183-1185)aaG>aaA	p.K395K	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Silent_p.K353K|RAPGEF3_uc009zkq.3_Silent_p.K353K|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Silent_p.K407K	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	353					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		GCTCTAGGATCTTCTCTGGGG	0.537000														52			14		0	0	0.006122	0	0
STK19	8859	broad.mit.edu	37	6	31940082	31940082	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31940082G>A	uc003nyv.3	+	1	352	c.224G>A	c.(223-225)gGg>gAg	p.G75E	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.G32E|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.G75E|STK19_uc011dox.1_Missense_Mutation_p.G32E|STK19_uc003nyw.3_Missense_Mutation_p.G75E|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	75						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GGTCTAGGAGGGACGCCCGGG	0.602000														86			33		0	0	0.004878	0	0
POLR2F	5435	broad.mit.edu	37	22	38355426	38355426	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:38355426C>T	uc003aul.3	+	2	285	c.164C>T	c.(163-165)cCa>cTa	p.P55L	POLR2F_uc010gxi.3_Silent_p.T48T|AK098727_uc003aum.3_Non-coding_Transcript	NM_021974	NP_068809	P61218	RPAB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide F (POLR2F), mRNA.	55					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA binding|DNA-directed RNA polymerase activity			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					ATCACCACACCATACATGACC	0.582000														97			47		0	0	0.003610	0	0
IL18R1	8809	broad.mit.edu	37	2	103006552	103006552	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:103006552G>A	uc002tbw.4	+	8	1136	c.986G>A	c.(985-987)aGa>aAa	p.R329K	IL18R1_uc010ywd.2_Missense_Mutation_p.R173K|IL18R1_uc010fiy.3_Missense_Mutation_p.R329K|IL18R1_uc010ywc.2_Missense_Mutation_p.R328K	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	329					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GTCTTCACAAGAGGAATGATC	0.383000														25			14		0	0	0.003163	0	0
C15orf2	23742	broad.mit.edu	37	15	24923400	24923400	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:24923400C>T	uc001ywo.3	+	0	2860	c.2386C>T	c.(2386-2388)Cct>Tct	p.P796S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	796					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTGAGCCTTCCTATCATGGT	0.542000														56			26		0	0	0.003954	0	0
TRANK1	9881	broad.mit.edu	37	3	36879994	36879994	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:36879994C>T	uc003cgj.3	-	19	5501	c.5253_splice	c.e19-1	p.K1751_splice		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1751					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AACTGCTTTTCCCTAGGGGAA	0.438000														12			18		0	0	0.007413	0	0
MYO16	23026	broad.mit.edu	37	13	109475607	109475607	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:109475607C>T	uc010agk.2	+	8	1700	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	MYO16_uc001vqt.1_Missense_Mutation_p.P338S|MYO16_uc001vqu.1_Missense_Mutation_p.P138S	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	338					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.P338T(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCACGATCTTCCCGTACTGTC	0.433000														17			21		0	0	0.002299	0	0
GALNT6	11226	broad.mit.edu	37	12	51754529	51754529	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:51754529C>T	uc001ryk.2	-	5	1368	c.1143G>A	c.(1141-1143)ggG>ggA	p.G381G	GALNT6_uc009zma.1_Intron|GALNT6_uc001ryl.1_Silent_p.G381G|GALNT6_uc001ryj.1_5'Flank	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	381	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCACGTTCTCCCCTCCCCAGA	0.537000														37			45		0	0	0.003610	0	0
ILDR1	286676	broad.mit.edu	37	3	121707229	121707230	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:121707229_121707230CC>TT	uc003ees.3	-	7	1828_1829	c.1625_1626GG>AA	c.(1624-1626)agg>aAA	p.R542K	ILDR1_uc003eeq.3_Missense_Mutation_p.R510K|ILDR1_uc003eer.3_Missense_Mutation_p.R498K|ILDR1_uc010hrg.3_Missense_Mutation_p.R453K	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	542						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TGACCACACTCCTTCCACTATG	0.450000														19			7		0	0	0.004672	0	0
GLP1R	2740	broad.mit.edu	37	6	39024227	39024227	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:39024227C>T	uc003ooj.4	+	1	193	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	45					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	p.R44C(1)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	ATACCGACGCCAGTGCCAGCG	0.622000														25			12		0	0	0.003163	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761398	150761399	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150761398_150761399CC>TT	uc022apz.1	+	2	1201_1202	c.161_162CC>TT	c.(160-162)gcc>gTT	p.A54V	SLC4A2_uc003wit.4_Missense_Mutation_p.A54V|SLC4A2_uc011kve.2_Missense_Mutation_p.A45V|SLC4A2_uc003wiu.4_Missense_Mutation_p.A40V	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	54	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTACAGGAGGCCGGGTCTCGTG	0.663000														32			6		0	0	0.004672	0	0
IL21R	50615	broad.mit.edu	37	16	27460566	27460566	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:27460566C>T	uc002dor.2	+	9	2193	c.1645C>T	c.(1645-1647)Cct>Tct	p.P549S	IL21R_uc002doq.2_Missense_Mutation_p.P527S|IL21R_uc002dos.2_Missense_Mutation_p.P527S|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	527					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGTGGTCATTCCTCCGCCACT	0.647000			T	BCL6	NHL									14			18		0	0	0.008871	0	0
FRY	10129	broad.mit.edu	37	13	32821520	32821520	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:32821520C>T	uc001utx.3	+	47	7385	c.6889C>T	c.(6889-6891)Ctt>Ttt	p.L2297F	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTCAGCCAGCCTTGTTTTACC	0.408000														20			29		0	0	0.003755	0	0
SCN10A	6336	broad.mit.edu	37	3	38743465	38743465	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:38743465G>A	uc003ciq.3	-	25	4522	c.4522C>T	c.(4522-4524)Ctg>Ttg	p.L1508L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1508					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATTTTGCCCAGAATTTTCGTC	0.448000														10			16		0	0	0.006122	0	0
RARRES2	5919	broad.mit.edu	37	7	150037222	150037222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150037222C>T	uc003wha.3	-	2	363	c.246G>A	c.(244-246)tgG>tgA	p.W82*		NM_002889	NP_002880	Q99969	RARR2_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 2 (RARRES2), mRNA.	82					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGGGTTTCTTCCAGTCCCTCT	0.577000														415			95		0	0	0.003610	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802939	185802939	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:185802939G>A	uc002uph.3	+	3	3410	c.2816G>A	c.(2815-2817)aGa>aAa	p.R939K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	939						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACAAAGAAAGAAGTGAGAAT	0.378000														29			13		0	0	0.001368	0	0
LTBP2	4053	broad.mit.edu	37	14	74972753	74972753	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:74972753C>T	uc001xqa.3	-	27	4562	c.4175G>A	c.(4174-4176)gGa>gAa	p.G1392E		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1392					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCCTCACCTCCAGCCCCCCG	0.627000														17			25		0	0	0.006320	0	0
ASB10	136371	broad.mit.edu	37	7	150873258	150873258	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150873258G>A	uc003wjm.1	-	4	1606	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	ASB10_uc003wjl.1_Missense_Mutation_p.P411S|ASB10_uc003wjn.1_Missense_Mutation_p.P434S	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	449	SOCS box.				intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGCAGGGGGAGGCGGGGC	0.677000														37			11		0	0	0.002450	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924152	105924152	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:105924152G>A	uc002tcq.3	-	1	691	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S	TGFBRAP1_uc002tcr.4_Missense_Mutation_p.P203S	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	203	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTGCAGTAGGGAAACAGGTCC	0.607000														82			34		0	0	0.003271	0	0
XIRP2	129446	broad.mit.edu	37	2	168102277	168102277	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:168102277C>T	uc002udx.3	+	8	4464	c.4375C>T	c.(4375-4377)Cac>Tac	p.H1459Y	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.H1284Y|XIRP2_uc010fpq.3_Missense_Mutation_p.H1237Y|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1284					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTTGAAACCCACACTATGGA	0.363000														21			4		0	0	0.000248	0	0
HOXA1	3198	broad.mit.edu	37	7	27135272	27135272	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:27135272C>T	uc003sye.3	-	0	354	c.260G>A	c.(259-261)gGg>gAg	p.G87E	HOXA1_uc003syd.3_Missense_Mutation_p.G87E|HOXA1_uc022aao.1_Missense_Mutation_p.G87E|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	87						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAGGACACCCCCAGGTTCCC	0.602000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		27			32		0	0	0.002836	0	0
C6orf118	168090	broad.mit.edu	37	6	165715408	165715409	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:165715408_165715409GG>AA	uc003qum.4	-	1	438_439	c.402_403CC>TT	c.(400-405)ccccag>ccTTag	p.Q135*	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	135										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGAGAGGCCTGGGGGTTCAGGT	0.624000														17			34		0	0	0.004672	0	0
PKD1L2	114780	broad.mit.edu	37	16	81145855	81145855	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:81145855C>T	uc002fgh.1	-	41	6891	c.6891G>A	c.(6889-6891)atG>atA	p.M2297I	PKD1L2_uc002fgf.1_Missense_Mutation_p.M99I|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2299					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGCCGTGATCATGTTCATTT	0.532000														64			50		0	0	0.003610	0	0
HECW2	57520	broad.mit.edu	37	2	197183420	197183420	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:197183420C>T	uc002utm.1	-	8	2377	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	HECW2_uc002utl.1_Missense_Mutation_p.E376K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.E732K(2)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCCCCAGCTCCTCCTGGTCA	0.652000														18			8		0	0	0.003080	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764753	77764753	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:77764753G>A	uc003yau.2	+	9	5983	c.5596G>A	c.(5596-5598)Gaa>Aaa	p.E1866K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E1821K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1821						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAAAAGCCAGAAAAACCAAA	0.408000										HNSCC(33;0.089)				5			6		0	0	0.003080	0	0
NEUROD2	4761	broad.mit.edu	37	17	37762629	37762630	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:37762629_37762630TC>GT	uc002hry.3	-	1	423_424	c.223_224GA>AC	c.(223-225)gag>ACg	p.E75T	NEUROD2_uc021tws.1_Missense_Mutation_p.E75T	NM_006160	NP_006151	Q15784	NDF2_HUMAN	Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.	75					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			ctcgccttcctcctTGACCTCG	0.718000														0			6		0	0	0.004672	0	0
EYA3	2140	broad.mit.edu	37	1	28354386	28354386	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:28354386G>T	uc001bpi.2	-	6	595	c.413C>A	c.(412-414)tCt>tAt	p.S138Y	EYA3_uc010ofs.2_Missense_Mutation_p.S85Y|EYA3_uc010oft.2_Intron|EYA3_uc001bpj.3_Intron|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Intron	NM_001990	NP_001981	Q99504	EYA3_HUMAN	Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA.	138					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TTGACTTGGAGATGGAGTCTG	0.438000														60			40		6.7651e-33	1.04291e-32	0.003610	1	0
SPSB1	80176	broad.mit.edu	37	1	9416449	9416450	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:9416449_9416450CC>TT	uc010oae.2	+	1	838_839	c.499_500CC>TT	c.(499-501)cca>TTa	p.P167L	SPSB1_uc001apv.3_Missense_Mutation_p.P167L	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	167	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTCTGGAACCAGATGAGACA	0.559000														74			15		0	0	0.004672	0	0
OR2M2	391194	broad.mit.edu	37	1	248343672	248343672	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248343672C>T	uc010pzf.2	+	0	385	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TATTTGCCACCCTCTAAGATA	0.403000														93			91		0	0	0.003610	0	0
L1TD1	54596	broad.mit.edu	37	1	62676049	62676049	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:62676049G>A	uc021ooc.1	+	4	2038	c.1603G>A	c.(1603-1605)Gaa>Aaa	p.E535K	L1TD1_uc001dae.4_Missense_Mutation_p.E535K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	535	Poly-Glu.							p.E534K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AACCCAGGAGGAAGAGGAAAC	0.473000														14			10		0	0	0.006214	0	0
SNX31	169166	broad.mit.edu	37	8	101661507	101661507	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:101661507C>T	uc003yjr.3	-	1	287	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	46	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTCACCTGTTCGTTCCAACCG	0.597000														10			12		0	0	0.001855	0	0
NKAIN2	154215	broad.mit.edu	37	6	125112496	125112496	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:125112496C>T	uc003pzo.3	+	4	763	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NKAIN2_uc010keq.3_Silent_p.F95F|NKAIN2_uc003pzp.3_Silent_p.F161F|NKAIN2_uc010ker.3_Silent_p.F72F	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	162						integral to membrane|plasma membrane		p.G161V(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		TGGCAGGTTTCATCTACGCCT	0.403000														9			13		0	0	0.003163	0	0
RNF208	727800	broad.mit.edu	37	9	140115218	140115218	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:140115218G>A	uc004clz.2	-	0	558	c.447C>T	c.(445-447)tcC>tcT	p.S149S		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	Homo sapiens ring finger protein 208 (RNF208), mRNA.	149							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGACATTGTAGGAGTGCCCAC	0.637000														8			17		0	0	0.004990	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603469	111603469	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:111603469G>A	uc010hqa.3	+	1	956	c.545G>A	c.(544-546)gGa>gAa	p.G182E	PHLDB2_uc003dyc.3_Missense_Mutation_p.G209E|PHLDB2_uc003dyd.3_Missense_Mutation_p.G182E|PHLDB2_uc003dyg.3_Missense_Mutation_p.G182E|PHLDB2_uc003dyh.3_Missense_Mutation_p.G182E|PHLDB2_uc003dye.4_Missense_Mutation_p.G182E|PHLDB2_uc003dyf.4_Missense_Mutation_p.G182E	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	182						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ATGTGGAATGGAAGTTCCCTG	0.537000														16			18		0	0	0.008871	0	0
LIPI	149998	broad.mit.edu	37	21	15561519	15561519	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:15561519G>A	uc002yjm.3	-	1	341	c.331C>T	c.(331-333)Cca>Tca	p.P111S	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.P90S|LIPI_uc021whh.1_Missense_Mutation_p.P90S|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.P90S|LIPI_uc021whe.1_Missense_Mutation_p.P90S|LIPI_uc021whf.1_Missense_Mutation_p.P90S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	90					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AGCCATAATGGGATGGAGCCT	0.373000														15			10		0	0	0.000978	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682129	69682129	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:69682129C>T	uc003hee.3	+	0	417	c.392C>T	c.(391-393)tCa>tTa	p.S131L	UGT2B10_uc011cam.2_Missense_Mutation_p.S131L	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	131					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATGTAGTTTCAAATAAGAAA	0.328000														14			16		0	0	0.003163	0	0
ATAD2	29028	broad.mit.edu	37	8	124371509	124371509	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:124371509G>A	uc003yqh.4	-	10	1442	c.1334C>T	c.(1333-1335)cCa>cTa	p.P445L	ATAD2_uc011lii.2_Missense_Mutation_p.P236L|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.P445L	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATAAAGTAATGGAAACACCAC	0.323000														54			46		0	0	0.003610	0	0
NRAP	4892	broad.mit.edu	37	10	115410288	115410288	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:115410288T>C	uc001lal.3	-	7	856	c.692A>G	c.(691-693)gAc>gGc	p.D231G	NRAP_uc001laj.3_Missense_Mutation_p.D231G|NRAP_uc001lak.3_Missense_Mutation_p.D231G	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	231						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E230K(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TTGTTCATAGTCCTCTGTGTA	0.443000														19			26		0	0	0.005443	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169550939	169550939	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:169550939G>A	uc003fgb.3	+	3	1498	c.1498G>A	c.(1498-1500)Gaa>Aaa	p.E500K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	500										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATACCTCAAGGAAAACAGAAA	0.408000														12			10		0	0	0.006214	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74714267	74714267	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:74714267C>T	uc001jtf.1	-	0	244	c.177G>A	c.(175-177)ggG>ggA	p.G59G	PLA2G12B_uc009xqt.1_5'UTR|PLA2G12B_uc010qjz.1_Silent_p.G59G	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	59					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity	p.G59V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					CTCCATTCTTCCCTCCCAGCA	0.532000														136			38		0	0	0.007835	0	0
KRT78	196374	broad.mit.edu	37	12	53242420	53242420	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:53242420C>T	uc001sbc.1	-	0	359	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	99	Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGATCGATCTCAATCTTCAGT	0.572000														45			9		0	0	0.000978	0	0
HLA-C	3107	broad.mit.edu	37	6	31237827	31237827	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31237827T>A	uc003nsy.3	-	4	996	c.931A>T	c.(931-933)Atc>Ttc	p.I311F	HLA-C_uc021yuk.1_Missense_Mutation_p.I190F|HLA-C_uc011dnj.2_Missense_Mutation_p.I283F|HLA-C_uc011dnl.2_Missense_Mutation_p.I190F	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, C (HLA-C), transcript variant 1, mRNA.	311					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCAGCAACGATGCCCATGATG	0.612000														29			25		0	0	0.003954	0	0
L32131	0	broad.mit.edu	37	17	58511075	58511075	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:58511075C>T	uc002iyr.1	-	0		c.2283G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		GAAATATTTTCCTTTGTGCTT	0.393000														2			22		0	0	0.001882	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911303	230911303	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:230911303T>G	uc002vqd.2	-	3	998	c.539A>C	c.(538-540)aAg>aCg	p.K180T	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.K180T|SLC16A14_uc002vqf.3_Missense_Mutation_p.K180T	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	180						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCACAGGTACTTCAGCAGCAC	0.587000														81			15		0	0	0.004007	0	0
BAZ2B	29994	broad.mit.edu	37	2	160310159	160310159	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:160310159G>A	uc002uao.3	-	3	704	c.299C>T	c.(298-300)gCc>gTc	p.A100V	BAZ2B_uc002uap.3_Missense_Mutation_p.A100V|BAZ2B_uc002uas.1_Intron|BAZ2B_uc002uau.1_Missense_Mutation_p.A100V|BAZ2B_uc002uaq.1_Missense_Mutation_p.A30V|BAZ2B_uc002uat.4_Intron|BAZ2B_uc010fop.1_Missense_Mutation_p.A100V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGCGGCTAAGGCTGTGGGTGT	0.478000														34			5		0	0	0.001168	0	0
NNT	23530	broad.mit.edu	37	5	43609398	43609398	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:43609398G>A	uc003joe.3	+	1	356	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	NNT_uc003jof.3_Missense_Mutation_p.R34Q	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	34					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GATTTTTTACGAACATTTTAT	0.418000														21			21		0	0	0.002780	0	0
PCLO	27445	broad.mit.edu	37	7	82583475	82583475	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:82583475G>A	uc003uhx.2	-	4	7083	c.6794C>T	c.(6793-6795)tCc>tTc	p.S2265F	PCLO_uc003uhv.2_Missense_Mutation_p.S2265F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2196					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCAGATAAGGAAATAACAAT	0.393000														30			47		0	0	0.003610	0	0
SLC11A1	6556	broad.mit.edu	37	2	219254608	219254608	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219254608C>T	uc002vhv.3	+	8	1151	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	SLC11A1_uc010fvp.1_Missense_Mutation_p.R271W|SLC11A1_uc010fvq.1_Missense_Mutation_p.R204W|SLC11A1_uc010zkc.1_Missense_Mutation_p.R204W|SLC11A1_uc002vhu.1_Missense_Mutation_p.R66W|SLC11A1_uc002vhw.3_Missense_Mutation_p.R153W|SLC11A1_uc010fvr.3_Missense_Mutation_p.R66W	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	271					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGATAGACCGGGCCCGCCG	0.547000														16			6		0	0	0.001168	0	0
SSPO	23145	broad.mit.edu	37	7	149497416	149497416	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:149497416G>A	uc010lpk.3	+	48	7165	c.7165G>A	c.(7165-7167)Ggc>Agc	p.G2389S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2392					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGCAGTGTGGCCCCGGCCA	0.672000														11			9		0	0	0.006214	0	0
QSER1	79832	broad.mit.edu	37	11	32979458	32979458	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:32979458C>T	uc001mty.3	+	7	4675	c.4408C>T	c.(4408-4410)Cct>Tct	p.P1470S	QSER1_uc001mtz.1_Missense_Mutation_p.P1231S|QSER1_uc001mua.3_Missense_Mutation_p.P975S	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1470										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AACTTCTGATCCTCTAGCATC	0.363000														5			11		0	0	0.001368	0	0
SNX29	92017	broad.mit.edu	37	16	12492328	12492328	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:12492328C>T	uc002dby.4	+	16	1987	c.770C>T	c.(769-771)tCc>tTc	p.S257F		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	257					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGTCAAACGTCCGAAGACCAG	0.463000														60			46		0	0	0.003610	0	0
MYO5C	55930	broad.mit.edu	37	15	52536688	52536688	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:52536688C>T	uc010bff.3	-	18	2417	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	752	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R752*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTTATCCAATCGAAGTTTCTC	0.418000														38			8		0	0	0.004482	0	0
COPB1	1315	broad.mit.edu	37	11	14508035	14508035	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:14508035G>A	uc001mlh.2	-	6	961	c.715C>T	c.(715-717)Cca>Tca	p.P239S	COPB1_uc001mli.2_Missense_Mutation_p.P239S|COPB1_uc001mlg.2_Missense_Mutation_p.P239S	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	239					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CTTTCTGATGGATTAGCATGA	0.398000														19			32		0	0	0.002445	0	0
CHMP6	79643	broad.mit.edu	37	17	78972191	78972191	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:78972191C>T	uc002jyw.4	+	6	599	c.521C>T	c.(520-522)cCc>cTc	p.P174L		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	Homo sapiens charged multivesicular body protein 6 (CHMP6), mRNA.	174	Interaction with VPS4A.				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCAGAGGTTCCCTCCGAGCCC	0.527000														28			96		0	0	0.003610	0	0
RPTN	126638	broad.mit.edu	37	1	152129289	152129289	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152129289C>T	uc001ezs.1	-	2	351	c.286G>A	c.(286-288)Ggc>Agc	p.G96S		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	96						proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GAGGTCCTGCCTCCATGTGAC	0.483000														111			33		0	0	0.004878	0	0
IL16	3603	broad.mit.edu	37	15	81585006	81585006	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:81585006C>T	uc021ssh.1	+	10	1631	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Silent_p.S510S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.S552S|IL16_uc021ssg.1_Silent_p.S510S|IL16_uc002bgg.3_Silent_p.S510S|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.3_Silent_p.S4S	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	510					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGATCCGCTCCAGCAGTGACA	0.617000														31			6		0	0	0.001168	0	0
MARCH9	92979	broad.mit.edu	37	12	58152599	58152599	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:58152599C>T	uc001spx.2	+	3	1391	c.960C>T	c.(958-960)ctC>ctT	p.L320L	MARCH9_uc001spy.3_Silent_p.L207L	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	320						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCTTGCACCTCCTTGGGCAGC	0.652000														22			4		0	0	0.000602	0	0
STEAP3	55240	broad.mit.edu	37	2	120003076	120003077	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:120003076_120003077CC>TT	uc002tlp.3	+	2	161_162	c.4_5CC>TT	c.(4-6)cca>TTa	p.P2L	STEAP3_uc002tlq.3_Missense_Mutation_p.P12L|STEAP3_uc002tlr.3_Missense_Mutation_p.P2L|STEAP3_uc010fle.3_Missense_Mutation_p.P2L	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	2					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CACCAAAATGCCAGAAGAGATG	0.574000														29			10		0	0	0.004672	0	0
ELMO1	9844	broad.mit.edu	37	7	37262237	37262237	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:37262237G>A	uc022abv.1	-	9	1473	c.763C>T	c.(763-765)Cct>Tct	p.P255S	ELMO1_uc011kbc.2_Missense_Mutation_p.P159S|ELMO1_uc003tfk.2_Missense_Mutation_p.P255S|ELMO1_uc010kxg.2_Missense_Mutation_p.P255S	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	255					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTCTCATCAGGAGCCTTCAGG	0.428000														74			20		0	0	0.002299	0	0
TMEM176A	55365	broad.mit.edu	37	7	150499405	150499405	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150499405G>A	uc003whx.1	+	2	355	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	TMEM176B_uc003whu.4_5'Flank|TMEM176B_uc003whv.4_5'Flank|TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	93						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCTGGACAGGGGCTGTGGT	0.577000														24			7		0	0	0.003080	0	0
FAM19A2	338811	broad.mit.edu	37	12	62261132	62261132	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:62261132C>T	uc001sqw.3	-	1	1657	c.75G>A	c.(73-75)ggG>ggA	p.G25G	FAM19A2_uc001sqx.3_Silent_p.G25G|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	25						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		ATACAACTTTCCCCCACAAGG	0.303000														46			29		0	0	0.003755	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110495	7110495	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:7110495G>A	uc001mfc.2	+	0	331	c.144G>A	c.(142-144)tcG>tcA	p.S48S		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	48	RRM.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAACAAGTCGAGGGGCTTCG	0.582000														1			9		0	0	0.006214	0	0
TXNL4B	54957	broad.mit.edu	37	16	72120541	72120541	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:72120541T>C	uc002fca.3	-	3	756	c.445A>G	c.(445-447)Att>Gtt	p.I149V	TXNL4B_uc010cgl.2_Intron|TXNL4B_uc010vmn.2_Missense_Mutation_p.I149V|TXNL4B_uc010vmo.2_Missense_Mutation_p.I149V	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	Homo sapiens thioredoxin-like 4B (TXNL4B), transcript variant 1, mRNA.	149					RNA splicing|mRNA processing|mitosis	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						ATGTACTAAATGTCTTGATAG	0.403000														49			13		0	0	0.004990	0	0
AGER	177	broad.mit.edu	37	6	32150716	32150717	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32150716_32150717CG>AT	uc003oal.2	-	5	692_693	c.592_593CG>AT	c.(592-594)cgg>ATg	p.R198M	AGER_uc021yvm.1_Missense_Mutation_p.R111M|AGER_uc021yvn.1_Missense_Mutation_p.R97M|AGER_uc010jtw.2_Non-coding_Transcript|AGER_uc021yvp.1_Missense_Mutation_p.R6M|AGER_uc021yvq.1_Missense_Mutation_p.R97M|AGER_uc011dpn.2_Missense_Mutation_p.R97M|AGER_uc011dpm.2_Missense_Mutation_p.R97M|AGER_uc003oap.2_Missense_Mutation_p.R214M|AGER_uc021yvr.1_Missense_Mutation_p.R198M|AGER_uc003oam.2_Intron|AGER_uc003oau.2_Missense_Mutation_p.R198M|AGER_uc003oas.2_Missense_Mutation_p.R198M|AGER_uc010jtv.2_Missense_Mutation_p.R198M|AGER_uc003oar.3_Missense_Mutation_p.R97M|AGER_uc003oaq.2_Missense_Mutation_p.R184M|AGER_uc003oat.2_Missense_Mutation_p.R214M|AGER_uc003oan.2_Missense_Mutation_p.R184M|AGER_uc011dpo.2_Missense_Mutation_p.R111M|AGER_uc003oao.2_Non-coding_Transcript|AGER_uc021yvo.1_Missense_Mutation_p.R111M|AGER_uc011dpp.2_Missense_Mutation_p.R229M|AGER_uc011dpq.2_Missense_Mutation_p.R245M	NM_001136	NP_001127	Q15109	RAGE_HUMAN	Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA.	198	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						ATCTCCTCCCCGGGCTGGGGTC	0.619000														613			8		0	0	0.004672	0	0
RIMS1	22999	broad.mit.edu	37	6	72596824	72596824	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:72596824G>A	uc003pga.3	+	0	175	c.98G>A	c.(97-99)aGg>aAg	p.R33K		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	33	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAGAGGAGAGGAACATTATC	0.622000														8			10		0	0	0.006214	0	0
TET2	54790	broad.mit.edu	37	4	106157143	106157143	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:106157143C>T	uc011cez.2	+	2	2512	c.2107C>T	c.(2107-2109)Cat>Tat	p.H703Y	TET2_uc003hxk.3_Missense_Mutation_p.H682Y|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.H682Y|TET2_uc010ilp.2_Missense_Mutation_p.H682Y|TET2_uc021xql.1_Missense_Mutation_p.H682Y	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	682	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.H682fs*11(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACTAGATTTCATTTTCAACA	0.428000			"""Mis N, F"""		MDS									41			19		0	0	0.001523	0	0
SEMA3E	9723	broad.mit.edu	37	7	83026040	83026040	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:83026040C>T	uc003uhy.2	-	11	1993	c.1372G>A	c.(1372-1374)Gga>Aga	p.G458R	SEMA3E_uc022agy.1_Missense_Mutation_p.G398R	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	458	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGCACAATTCCATTATCTGTA	0.338000														10			16		0	0	0.006122	0	0
PTGDR	5729	broad.mit.edu	37	14	52735046	52735047	+	Missense_Mutation	DNP	GG	AA	AA	rs142969446	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:52735046_52735047GG>AA	uc001wzq.3	+	0	616_617	c.514_515GG>AA	c.(514-516)ggg>AAg	p.G172K		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	172						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATGGGCTTCGGGAAGTTCGTG	0.639000														22			37		0	0	0.004672	0	0
DCC	1630	broad.mit.edu	37	18	50936947	50936947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:50936947C>T	uc002lfe.2	+	19	3677	c.3061C>T	c.(3061-3063)Cga>Tga	p.R1021*	DCC_uc010xdr.1_Nonsense_Mutation_p.R849*|DCC_uc010dpf.2_Nonsense_Mutation_p.R656*	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1021	Fibronectin type-III 6.				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)		GTATTACTTTCGAATTCAAGC	0.378000														30			6		0	0	0.001984	0	0
ABCG1	9619	broad.mit.edu	37	21	43645804	43645804	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:43645804G>A	uc011aev.2	+	1	173	c.99G>A	c.(97-99)gaG>gaA	p.E33E	ABCG1_uc002zam.3_5'UTR|ABCG1_uc002zan.3_Silent_p.E24E|ABCG1_uc002zao.3_Silent_p.E19E|ABCG1_uc002zap.3_Silent_p.E22E|ABCG1_uc002zaq.3_Silent_p.E22E|ABCG1_uc002zar.3_Silent_p.E33E	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	22					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.S32L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ACTCTGCAGAGATGACGGAGC	0.483000														36			49		0	0	0.003610	0	0
AHNAK2	113146	broad.mit.edu	37	14	105404794	105404794	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:105404794G>A	uc010axc.1	-	6	17114	c.16994C>T	c.(16993-16995)tCc>tTc	p.S5665F	AHNAK2_uc021sen.1_Missense_Mutation_p.S1062F|AHNAK2_uc021seo.1_Missense_Mutation_p.S663F|AHNAK2_uc001ypx.2_Missense_Mutation_p.S5565F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5665						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCATTTTTGGAATCAACACC	0.468000														5			12		0	0	0.001368	0	0
KIAA1644	85352	broad.mit.edu	37	22	44681324	44681324	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:44681324G>A	uc003bet.2	-	3	716	c.583C>T	c.(583-585)Cag>Tag	p.Q195*		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	195						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				GACGAACTCTGGAAGGTCATC	0.597000														38			16		0	0	0.006122	0	0
ACSM1	116285	broad.mit.edu	37	16	20638539	20638540	+	Silent	DNP	TC	GT	GT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:20638539_20638540TC>GT	uc002dhm.1	-	9	1466_1467	c.1398_1399GA>AC	c.(1396-1401)gggagg>ggACgg	p.466_467GR>GR	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Silent_p.466_467GR>GR	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	466					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding	p.L465L(1)|p.G466W(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCATCACTCCTCCCCAGGAAAC	0.505000														106			98		0	0	0.004672	0	0
CNGB1	1258	broad.mit.edu	37	16	57992359	57992359	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:57992359C>T	uc002emt.2	-	10	857	c.792G>A	c.(790-792)gaG>gaA	p.E264E	CNGB1_uc010cdh.2_Silent_p.E258E|CNGB1_uc002emu.2_Silent_p.E264E	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	264					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCAAGGCCATCTCCAGCCTGT	0.622000														28			16		0	0	0.006122	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190014	233190014	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:233190014C>T	uc001hvl.2	-	25	4586	c.4351_splice	c.e25+1	p.G1451_splice	PCNXL2_uc001hvk.1_Splice_Site_p.G103_splice|PCNXL2_uc001hvm.1_Splice_Site	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1451						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AAATTCTTACCTCGGAATTCC	0.363000														20			5		0	0	0.000602	0	0
NOTCH3	4854	broad.mit.edu	37	19	15302774	15302774	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:15302774G>A	uc002nan.3	-	3	752	c.676C>T	c.(676-678)Cct>Tct	p.P226S	NOTCH3_uc002nao.1_Missense_Mutation_p.P226S	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	226	EGF-like 5.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P226S(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACTCACCAGGAAGACAGGCA	0.642000														8			13		0	0	0.002450	0	0
ITGAV	3685	broad.mit.edu	37	2	187533579	187533579	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:187533579C>T	uc002upq.3	+	24	2800	c.2524C>T	c.(2524-2526)Ctt>Ttt	p.L842F	ITGAV_uc010frs.3_Missense_Mutation_p.L806F|ITGAV_uc010zfv.2_Missense_Mutation_p.L796F	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	842					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GTTGTATATCCTTCATTATGA	0.363000														52			14		0	0	0.002450	0	0
DPP4	1803	broad.mit.edu	37	2	162881449	162881449	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:162881449C>T	uc002ubz.3	-	11	1449	c.888_splice	c.e11-1	p.G296_splice	DPP4_uc010fpb.3_Splice_Site	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	296					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	p.G296G(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AGTAGTGATCCCTggaaggaa	0.403000														18			27		0	0	0.004656	0	0
ABCG8	64241	broad.mit.edu	37	2	44079492	44079493	+	Splice_Site	DNP	GG	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:44079492_44079493GG>AA	uc002rtq.3	+	5	652	c.562_splice	c.e5-1	p.V188_splice	ABCG8_uc010yoa.2_Splice_Site_p.V188_splice	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	188	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGCCCACAGGTGGAGGACGT	0.653000														78			48		0	0	0.004672	0	0
SLC29A4	222962	broad.mit.edu	37	7	5330756	5330756	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:5330756G>A	uc003sod.3	+	4	463	c.302_splice	c.e4-1	p.G101_splice	SLC29A4_uc011jwg.1_Splice_Site|SLC29A4_uc003soc.3_Splice_Site_p.G101_splice|SLC29A4_uc003soe.3_Splice_Site_p.G101_splice	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	101					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCTCTGCAGGGACCTCCATCG	0.622000														24			29		0	0	0.001786	0	0
GGT1	2678	broad.mit.edu	37	22	25019109	25019109	+	Missense_Mutation	SNP	C	A	A	rs113647199		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:25019109C>A	uc003aan.1	+	9	1256	c.769C>A	c.(769-771)Cgt>Agt	p.R257S	GGT1_uc003aas.1_Missense_Mutation_p.R257S|GGT1_uc003aat.1_Missense_Mutation_p.R257S|GGT1_uc003aau.2_Missense_Mutation_p.R257S|GGT1_uc003aav.2_Missense_Mutation_p.R257S|GGT1_uc003aaw.2_Missense_Mutation_p.R257S|GGT1_uc003aax.2_Missense_Mutation_p.R257S	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	257					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GAACAACTACCGTGCTGAGCT	0.627000														30			4		0.00116845	0.00177865	0.001168	1	0
BRDT	676	broad.mit.edu	37	1	92446543	92446543	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:92446543C>T	uc001dol.4	+	10	1976	c.1558C>T	c.(1558-1560)Ctg>Ttg	p.L520L	BRDT_uc010osz.2_Silent_p.L524L|BRDT_uc001dok.4_Silent_p.L520L|BRDT_uc009wdf.3_Silent_p.L447L|BRDT_uc010otb.2_Silent_p.L474L|BRDT_uc010ota.2_Silent_p.L474L|BRDT_uc001dom.4_Silent_p.L520L	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GCAGTTAAGTCTGAATATAAA	0.373000														22			21		0	0	0.001523	0	0
KLHDC1	122773	broad.mit.edu	37	14	50199497	50199497	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:50199497C>T	uc001www.3	+	8	876	c.786C>T	c.(784-786)ttC>ttT	p.F262F	NEMF_uc010anj.1_Intron|KLHDC1_uc010tqg.2_Silent_p.F217F|KLHDC1_uc010tqh.2_Silent_p.F177F	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	Homo sapiens kelch domain containing 1 (KLHDC1), mRNA.	262						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					ATAAACTTTTCCTATGTGGTG	0.328000														33			22		0	0	0.004656	0	0
ABCB8	11194	broad.mit.edu	37	7	150732715	150732715	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150732715C>T	uc003wil.4	+	6	957	c.864C>T	c.(862-864)tcC>tcT	p.S288S	ABCB8_uc003wii.2_Silent_p.S308S|ABCB8_uc010lpw.1_Silent_p.S90S|ABCB8_uc010lpx.3_Silent_p.S271S|ABCB8_uc011kvd.2_Silent_p.S183S|ABCB8_uc003wim.4_Silent_p.S66S|ABCB8_uc003wik.4_Silent_p.S271S	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	288	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCCCTGTCCATGCTGTCGA	0.657000														30			44		0	0	0.008740	0	0
TLN2	83660	broad.mit.edu	37	15	63047733	63047733	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:63047733C>T	uc002alb.4	+	33	4479	c.4479C>T	c.(4477-4479)gtC>gtT	p.V1493V	TLN2_uc002alc.4_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1493					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTTTGTAGGTCCTGTCAGCCG	0.587000														9			4		0	0	0.001168	0	0
C1orf61	10485	broad.mit.edu	37	1	156374353	156374353	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:156374353G>A	uc001fou.1	-	6	737	c.464C>T	c.(463-465)tCc>tTc	p.S155F	BC016978_uc001fot.1_3'UTR|C1orf61_uc001fov.1_Non-coding_Transcript|C1orf61_uc001fow.1_Non-coding_Transcript|C1orf61_uc001fox.1_Non-coding_Transcript	NM_006365	NP_006356	Q13536	CROC4_HUMAN	Homo sapiens chromosome 1 open reading frame 61 (C1orf61), mRNA.	155						nucleus				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					TTATCAGAGGGAATCCAGCCC	0.403000														34			20		0	0	0.005443	0	0
ICAM5	7087	broad.mit.edu	37	19	10404813	10404813	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:10404813G>A	uc002mnu.4	+	7	1874	c.1809G>A	c.(1807-1809)caG>caA	p.Q603Q	ICAM5_uc002mnv.4_Silent_p.Q478Q	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	603	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GGAAGCCACAGCCAAGCGTGA	0.647000														28			47		0	0	0.003610	0	0
PRR23B	389151	broad.mit.edu	37	3	138738801	138738801	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:138738801G>A	uc003esy.1	-	0	968	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	235	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGGAGAGGGAGGTAGAGGT	0.662000														11			24		0	0	0.003330	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835203	12835203	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:12835203C>T	uc001aui.3	+	0	220	c.193C>T	c.(193-195)Cct>Tct	p.P65S		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	65								p.P65S(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGCCTTCCTCTAGGGTC	0.577000														25			38		0	0	0.004878	0	0
SCN11A	11280	broad.mit.edu	37	3	38888655	38888655	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:38888655C>T	uc021wvy.1	-	25	5105	c.4906G>A	c.(4906-4908)Gaa>Aaa	p.E1636K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1636					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGTTGCTTCTGGGTCAAAC	0.393000														20			43		0	0	0.008740	0	0
AGT	183	broad.mit.edu	37	1	230841681	230841681	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:230841681G>A	uc001hty.4	-	2	1630	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	AGT_uc009xff.3_Silent_p.P346P	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	374					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GCTCCTACCGGGGAGATAGTT	0.607000														84			22		0	0	0.003954	0	0
GSTA1	2938	broad.mit.edu	37	6	52656671	52656671	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:52656671C>T	uc003paz.3	-	6	766	c.654G>A	c.(652-654)aaG>aaA	p.K218K	GSTA1_uc021zan.1_3'UTR	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	218					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	ACCTGAAAATCTTCCTTGCTT	0.413000														93			27		0	0	0.005443	0	0
BCL6	604	broad.mit.edu	37	3	187446943	187446943	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:187446943G>A	uc003frp.3	-	4	1707	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.P417L|BCL6_uc010hza.2_Missense_Mutation_p.P315L|BCL6_uc003frq.2_Missense_Mutation_p.P417L	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	417					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCTCCATGGGTGGCTGGCA	0.627000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									69			15		0	0	0.001523	0	0
SCML2	10389	broad.mit.edu	37	X	18342046	18342046	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:18342046G>A	uc004cyl.2	-	4	487	c.330C>T	c.(328-330)gtC>gtT	p.V110V	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Silent_p.V110V|SCML2_uc011miz.1_Silent_p.V44V	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	110					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.V110V(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CTGGGGAATCGACAAGCCTCC	0.418000														16			36		0	0	0.008740	0	0
MYO9A	4649	broad.mit.edu	37	15	72338673	72338673	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:72338673G>A	uc002atl.4	-	1	705	c.232C>T	c.(232-234)Cca>Tca	p.P78S	MYO9A_uc010biq.3_Intron|MYO9A_uc002ato.3_Missense_Mutation_p.P78S|MYO9A_uc002atn.1_Missense_Mutation_p.P78S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	78	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAATCTGTTGGATTGAGAATC	0.418000														39			9		0	0	0.008291	0	0
ADAM32	203102	broad.mit.edu	37	8	39079206	39079206	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:39079206C>T	uc003xmt.4	+	12	1556	c.1311C>T	c.(1309-1311)tgC>tgT	p.C437C	ADAM32_uc011lch.2_Silent_p.C338C|ADAM32_uc003xmu.4_Silent_p.C331C|ADAM32_uc003xmv.3_5'UTR	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	437	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AAGGACTGTGCTGCAAAGACT	0.358000														19			4		0	0	0.000248	0	0
MXRA5	25878	broad.mit.edu	37	X	3242365	3242365	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:3242365G>A	uc004crg.4	-	4	1518	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	454						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGTAGTAGGAAAGTAGCAC	0.498000														47			73		0	0	0.003610	0	0
ADCY8	114	broad.mit.edu	37	8	131848603	131848603	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:131848603C>T	uc003ytd.4	-	11	2851	c.2595G>A	c.(2593-2595)atG>atA	p.M865I	ADCY8_uc010mds.3_Missense_Mutation_p.M734I	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	865					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.M865I(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGATGGCAATCATGATCAGCA	0.547000										HNSCC(32;0.087)				17			29		0	0	0.005443	0	0
ZNF460	10794	broad.mit.edu	37	19	57802418	57802418	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:57802418C>T	uc002qog.2	+	2	831	c.509C>T	c.(508-510)tCc>tTc	p.S170F	ZNF460_uc010ygv.1_Missense_Mutation_p.S129F	NM_006635	NP_006626	Q14592	ZN460_HUMAN	Homo sapiens zinc finger protein 460 (ZNF460), mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGGAAAATTCCTATAAATTC	0.408000														15			42		0	0	0.008740	0	0
ANKFN1	162282	broad.mit.edu	37	17	54526526	54526526	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:54526526C>T	uc002iun.1	+	9	1230	c.1195C>T	c.(1195-1197)Cat>Tat	p.H399Y		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	399										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CCGAGCCCTTCATCAGCATTA	0.502000														22			77		0	0	0.003610	0	0
SCAND3	114821	broad.mit.edu	37	6	28547076	28547076	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28547076G>A	uc003nlo.3	-	1	1159	c.541C>T	c.(541-543)Cca>Tca	p.P181S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	181					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGTGGCTCTGGAGATTCACAT	0.408000														152			50		0	0	0.003610	0	0
CLIP2	7461	broad.mit.edu	37	7	73790813	73790813	+	Silent	SNP	G	A	A	rs149979075	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:73790813G>A	uc003uam.3	+	9	2409	c.2082G>A	c.(2080-2082)gaG>gaA	p.E694E	CLIP2_uc003uan.3_Silent_p.E659E|CLIP2_uc003uao.3_Silent_p.E88E	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	694						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGGCCCAGGAGGAGCTGGCTG	0.682000														10			4		0	0	0.000602	0	0
LTK	4058	broad.mit.edu	37	15	41799417	41799417	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:41799417G>A	uc001zoa.3	-	10	1595	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	LTK_uc001zob.3_Nonsense_Mutation_p.R412*|LTK_uc010ucx.1_Intron|LTK_uc010bcg.2_Nonsense_Mutation_p.R171*	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	473					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P472H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCAGAGGTTCGAAGCTTGCTC	0.617000										TSP Lung(18;0.14)				18			10		0	0	0.000978	0	0
PDE1A	5136	broad.mit.edu	37	2	183070750	183070750	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:183070750C>T	uc002uos.3	-	8	951	c.867G>A	c.(865-867)gaG>gaA	p.E289E	PDE1A_uc010zfp.1_Silent_p.E185E|PDE1A_uc002uoq.1_Silent_p.E289E|PDE1A_uc010zfq.1_Silent_p.E289E|PDE1A_uc002uor.3_Silent_p.E273E|PDE1A_uc002uou.3_Silent_p.E255E	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	289	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CGTGGTGATTCTCAAGGACAG	0.358000														9			10		0	0	0.006214	0	0
LGI1	9211	broad.mit.edu	37	10	95556907	95556907	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:95556907G>A	uc001kjc.4	+	7	1357	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.E293K|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	341					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATTCAAGATTGAAAACAACTG	0.343000														27			25		0	0	0.002096	0	0
RPF2	84154	broad.mit.edu	37	6	111303331	111303331	+	Splice_Site	SNP	G	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:111303331G>C	uc003pun.3	+	1	42	c.23_splice	c.e1+1	p.V8_splice	RPF2_uc003puo.3_Splice_Site	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	Homo sapiens ribosome production factor 2 homolog (S. cerevisiae) (RPF2), mRNA.	8						nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						GGATCGAGTAGTGTAAGTGCG	0.617000														26			10		0	0	0.002450	0	0
KIF2C	11004	broad.mit.edu	37	1	45223287	45223287	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:45223287C>T	uc001cmg.4	+	10	1152	c.1037C>T	c.(1036-1038)gCa>gTa	p.A346V	KIF2C_uc010olb.2_Missense_Mutation_p.A305V|KIF2C_uc010olc.2_Missense_Mutation_p.A233V|KIF2C_uc001cmh.4_Missense_Mutation_p.A292V	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	346	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					ACTTGTTTTGCATATGGCCAG	0.493000														24			27		0	0	0.001786	0	0
HSD17B3	3293	broad.mit.edu	37	9	99007662	99007662	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:99007662G>A	uc004awa.1	-	7	619	c.571C>T	c.(571-573)Cct>Tct	p.P191S	HSD17B3_uc010msc.1_Missense_Mutation_p.P191S	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	191					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AGAGGCCAAGGAAACAGGGCT	0.468000														28			28		0	0	0.003271	0	0
DHRS9	10170	broad.mit.edu	37	2	169939917	169939917	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:169939917G>A	uc010zdc.2	+	2	684	c.572G>A	c.(571-573)aGa>aAa	p.R191K	DHRS9_uc002uep.3_Missense_Mutation_p.R131K|DHRS9_uc002ueq.3_Missense_Mutation_p.R131K|DHRS9_uc010zdd.2_Missense_Mutation_p.R131K|DHRS9_uc010zde.2_Missense_Mutation_p.R131K	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	131					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAGGACTACAGAGAACCTATT	0.468000														47			8		0	0	0.004482	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558279	140558279	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:140558279C>T	uc011dai.2	+	0	909	c.664C>T	c.(664-666)Ccc>Tcc	p.P222S	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P221L(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCTCTCCGCCCAGATCTGG	0.522000														71			26		0	0	0.004656	0	0
DGKE	8526	broad.mit.edu	37	17	54912461	54912461	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:54912461C>T	uc002iur.3	+	1	485	c.305C>T	c.(304-306)gCc>gTc	p.A102V	DGKE_uc002ius.1_Missense_Mutation_p.A102V|C17orf67_uc002iuq.3_5'Flank	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	102					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CTCAGGAAGGCCGACAAGCGC	0.647000														9			39		0	0	0.005524	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339113	79339113	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:79339113C>T	uc002beq.3	-	4	1228	c.853G>A	c.(853-855)Gac>Aac	p.D285N	RASGRF1_uc002bep.3_Missense_Mutation_p.D285N|RASGRF1_uc010blm.1_Missense_Mutation_p.D207N|RASGRF1_uc002ber.4_Missense_Mutation_p.D285N	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	285	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGCTGACGTCGTCGTGTGTG	0.572000														81			20		0	0	0.003330	0	0
GPC2	221914	broad.mit.edu	37	7	99773255	99773255	+	Silent	SNP	G	A	A	rs142847181	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:99773255G>A	uc003utv.3	-	2	756	c.588C>T	c.(586-588)gcC>gcT	p.A196A	GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Silent_p.A196A|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	196						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGTAGATGAGGCCAAGCGTG	0.627000														19			4		0	0	0.000248	0	0
KCNH2	3757	broad.mit.edu	37	7	150644749	150644749	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150644749C>T	uc003wic.3	-	11	3311	c.2910G>A	c.(2908-2910)ggG>ggA	p.G970G	KCNH2_uc003wib.3_Silent_p.G630G|KCNH2_uc011kux.2_Silent_p.G874G	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	970					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCAGGGGCTCCCCACCCGGCG	0.731000														8			11		0	0	0.008291	0	0
RP1	6101	broad.mit.edu	37	8	55539794	55539794	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:55539794C>T	uc003xsd.1	+	3	3500	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1118					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTTCCCTTTCATTCTGCAAT	0.423000														21			17		0	0	0.008871	0	0
GABRA6	2559	broad.mit.edu	37	5	161128527	161128527	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:161128527G>A	uc003lyu.2	+	8	1448	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	GABRA6_uc003lyv.2_Silent_p.L141L	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	370					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.L370L(2)|p.H369Y(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATATCATCTGAAGAAAAGGA	0.383000										TCGA Ovarian(5;0.080)				17			44		0	0	0.003610	0	0
LZTR1	8216	broad.mit.edu	37	22	21330536	21330536	+	Silent	SNP	C	T	T	rs141390776		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:21330536C>T	uc002ztj.2	+	9	1058	c.840C>T	c.(838-840)gtC>gtT	p.V280V	LZTR1_uc002ztk.2_Silent_p.V280V|LZTR1_uc002ztl.2_Silent_p.V286V|LZTR1_uc011ahx.1_Silent_p.V268V	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTAAGAAGGTCGTGTTCAAGG	0.612000														28			21		0	0	0.002780	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123471203	123471203	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:123471203G>A	uc001pyw.2	+	7	918	c.589G>A	c.(589-591)Gat>Aat	p.D197N	GRAMD1B_uc001pyx.2_Missense_Mutation_p.D190N|GRAMD1B_uc010rzw.2_Missense_Mutation_p.D150N|GRAMD1B_uc010rzx.1_Missense_Mutation_p.D150N|GRAMD1B_uc009zbe.1_Missense_Mutation_p.D186N	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	190						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGGGGCCCGGGATAGGACATA	0.423000														7			9		0	0	0.006214	0	0
AMBN	258	broad.mit.edu	37	4	71471911	71471911	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:71471911G>A	uc003hfl.3	+	12	909	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	270					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GGGCGGGAGAGAAGACCCAAT	0.502000														38			18		0	0	0.007413	0	0
GIGYF2	26058	broad.mit.edu	37	2	233626129	233626129	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:233626129C>T	uc002vtj.4	+	8	782	c.515C>T	c.(514-516)cCa>cTa	p.P172L	GIGYF2_uc010zmj.1_Missense_Mutation_p.P172L|GIGYF2_uc002vtg.2_Missense_Mutation_p.P172L|GIGYF2_uc002vti.4_Missense_Mutation_p.P172L|GIGYF2_uc002vtk.4_Missense_Mutation_p.P172L|GIGYF2_uc002vth.4_Missense_Mutation_p.P172L|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	172	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTTGAAAAACCAGGACGAAAA	0.383000														34			8		0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882627	228882627	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:228882627C>T	uc002vpq.2	-	6	2990	c.2943G>A	c.(2941-2943)agG>agA	p.R981R	SPHKAP_uc002vpp.2_Silent_p.R981R|SPHKAP_uc010zlx.1_Silent_p.R981R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	981						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCTTTCTTCCTCTTCAAGG	0.542000														27			25		0	0	0.003330	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114192030	114192030	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:114192030C>G	uc001kzv.3	-	9	1530	c.1106G>C	c.(1105-1107)gGa>gCa	p.G369A	ZDHHC6_uc001kzw.3_Missense_Mutation_p.G365A	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA.	369						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		AATTTTGTCTCCATATAACCA	0.279000														23			11		0	0	0.008291	0	0
SOGA2	23255	broad.mit.edu	37	18	8784642	8784642	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:8784642T>A	uc002knr.2	+	5	1674	c.1532T>A	c.(1531-1533)cTg>cAg	p.L511Q	SOGA2_uc002knq.2_Missense_Mutation_p.L511Q|SOGA2_uc010dkw.1_Missense_Mutation_p.L349Q	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	862																	GAGCCCCAGCTGCTGGGGACC	0.652000														21			13		0	0	0.001855	0	0
DMBT1	1755	broad.mit.edu	37	10	124345822	124345822	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:124345822A>T	uc001lgk.1	+	15	1812	c.1706A>T	c.(1705-1707)tAc>tTc	p.Y569F	DMBT1_uc001lgl.1_Missense_Mutation_p.Y559F|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.Y569F|DMBT1_uc021qag.1_Missense_Mutation_p.Y559F|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.Y569F|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	569	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AATGAGTCCTACTTGTGGAGC	0.587000														47			24		0	0	0.002780	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177138	70177138	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:70177138C>T	uc010moc.3	-	0	1678	c.846G>A	c.(844-846)ccG>ccA	p.P282P		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	282					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						CTGCTTTCTTCGGTGCCCCGG	0.677000														47			13		0	0	0.002445	0	0
LRP5	4041	broad.mit.edu	37	11	68153787	68153787	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:68153787C>T	uc001ont.3	+	5	1094	c.1019C>T	c.(1018-1020)gCc>gTc	p.A340V	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	340					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCACAGGAGCCGAGGAGGTG	0.662000														12			17		0	0	0.006122	0	0
CHD7	55636	broad.mit.edu	37	8	61655534	61655534	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:61655534C>T	uc003xue.3	+	1	2035	c.1543C>T	c.(1543-1545)Cct>Tct	p.P515S	CHD7_uc022aux.1_Missense_Mutation_p.P515S	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	515	Pro-rich.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GCCAACCTGTCCTCCACTGCA	0.582000														10			4		0	0	0.000248	0	0
DHRS7C	201140	broad.mit.edu	37	17	9680597	9680597	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:9680597G>A	uc010vvb.2	-	3	500	c.487C>T	c.(487-489)Ctt>Ttt	p.L163F	DHRS7C_uc010cof.3_Missense_Mutation_p.L162F	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	163						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ATGTTGGGAAGCAGGGCTGGA	0.507000														4			13		0	0	0.002450	0	0
OTOF	9381	broad.mit.edu	37	2	26699831	26699831	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:26699831C>A	uc002rhk.3	-	21	2731	c.2604G>T	c.(2602-2604)aaG>aaT	p.K868N	OTOF_uc002rhh.3_Missense_Mutation_p.K121N|OTOF_uc002rhi.3_Missense_Mutation_p.K178N|OTOF_uc002rhj.3_Missense_Mutation_p.K121N	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	868					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCAGGTCCTTGGAGGGCA	0.612000														9			12		0.000978159	0.00148977	0.000978	1	0
ENGASE	64772	broad.mit.edu	37	17	77073900	77073900	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:77073900C>T	uc002jwv.3	+	2	378	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	ENGASE_uc002jwu.1_Missense_Mutation_p.R124W|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	124						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCAGAGGCCCCGGACTTTGTT	0.592000														15			38		0	0	0.004289	0	0
CDYL2	124359	broad.mit.edu	37	16	80654830	80654830	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:80654830G>A	uc002ffs.3	-	3	942	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	279						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTTCTTTCATGATCTGCCGGC	0.582000														5			4		0	0	0.000602	0	0
EPB41	2035	broad.mit.edu	37	1	29319891	29319891	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:29319891G>A	uc001brm.2	+	2	645	c.518G>A	c.(517-519)gGa>gAa	p.G173E	EPB41_uc001brg.2_5'UTR|EPB41_uc001brh.2_5'UTR|EPB41_uc001brj.2_5'UTR|EPB41_uc001bri.2_Missense_Mutation_p.G173E|EPB41_uc009vtk.2_Missense_Mutation_p.G173E|EPB41_uc001brk.3_Missense_Mutation_p.G173E|EPB41_uc001brl.2_Missense_Mutation_p.G173E|EPB41_uc021okg.1_Missense_Mutation_p.G173E|EPB41_uc009vtm.2_Intron|EPB41_uc009vtl.2_5'UTR	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	173					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ATTAAGGAAGGAGAAGGACTT	0.368000														91			79		0	0	0.003610	0	0
MICU1	10367	broad.mit.edu	37	10	74128021	74128021	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:74128021G>A	uc001jtb.2	-	11	1546	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	MIR1256_uc021pth.1_Intron|MICU1_uc010qjx.2_Missense_Mutation_p.R257C|MICU1_uc010qjw.2_Missense_Mutation_p.R257C|MICU1_uc009xqo.2_Non-coding_Transcript	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	Homo sapiens mitochondrial calcium uptake 1 (MICU1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	455					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding										TGCATGAGGCGAGTGAAACCC	0.527000														17			10		0	0	0.000978	0	0
PDE1C	5137	broad.mit.edu	37	7	31890268	31890268	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:31890268G>A	uc003tcm.2	-	7	1299	c.838C>T	c.(838-840)Cac>Tac	p.H280Y	PDE1C_uc003tcn.1_Missense_Mutation_p.H280Y|PDE1C_uc003tco.2_Missense_Mutation_p.H340Y|PDE1C_uc003tcr.3_Missense_Mutation_p.H280Y|PDE1C_uc003tcs.3_Missense_Mutation_p.H280Y	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	280	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTCTGAATGTGGAAATTGTTG	0.448000														32			36		0	0	0.002222	0	0
ZNF287	57336	broad.mit.edu	37	17	16455369	16455369	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:16455369C>T	uc021trd.1	-	5	2705	c.2087G>A	c.(2086-2088)aGa>aAa	p.R696K	ZNF287_uc002gqi.2_Missense_Mutation_p.R696K	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	689					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		AGTATGAGTTCTCTGATGTTG	0.368000														15			27		0	0	0.005443	0	0
TM7SF3	51768	broad.mit.edu	37	12	27148241	27148241	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:27148241T>C	uc010sjl.2	-	4	857	c.619A>G	c.(619-621)Act>Gct	p.T207A		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	207						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATCTCCTCAGTGAGGTCATTC	0.527000														58			40		0	0	0.008740	0	0
ITSN2	50618	broad.mit.edu	37	2	24535101	24535101	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:24535101G>A	uc002rfe.2	-	4	590	c.332C>T	c.(331-333)cCa>cTa	p.P111L	ITSN2_uc002rff.2_Missense_Mutation_p.P111L|ITSN2_uc002rfg.3_Missense_Mutation_p.P111L|ITSN2_uc010eyd.2_Missense_Mutation_p.P111L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	111					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAATTAATGGAGAAAACAT	0.363000														18			13		0	0	0.001855	0	0
LY9	4063	broad.mit.edu	37	1	160788033	160788033	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:160788033G>A	uc001fwu.3	+	5	1418	c.1368G>A	c.(1366-1368)tgG>tgA	p.W456*	LY9_uc001fwv.3_Nonsense_Mutation_p.W456*|LY9_uc001fww.3_Nonsense_Mutation_p.W366*|LY9_uc001fwy.1_Nonsense_Mutation_p.W268*|LY9_uc001fwz.3_Nonsense_Mutation_p.W108*	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	456					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAAAGCTTTGGATTGGGTTGT	0.438000														44			10		0	0	0.008291	0	0
C15orf2	23742	broad.mit.edu	37	15	24923731	24923731	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:24923731G>A	uc001ywo.3	+	0	3191	c.2717G>A	c.(2716-2718)gGg>gAg	p.G906E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	906					cell differentiation|multicellular organismal development|spermatogenesis			p.G906W(2)|p.D905H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCCACTGATGGGCAGCAGAAG	0.502000														77			34		0	0	0.006230	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148699251	148699251	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:148699251C>T	uc003lqh.3	+	12	1717	c.1586C>T	c.(1585-1587)aCc>aTc	p.T529I	AFAP1L1_uc010jgy.3_Missense_Mutation_p.T529I|AFAP1L1_uc003lqi.2_Missense_Mutation_p.T144I	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	529							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTGGAGACCTTAACCAGC	0.597000														6			13		0	0	0.001368	0	0
NLRP8	126205	broad.mit.edu	37	19	56466901	56466901	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56466901C>T	uc002qmh.3	+	2	1548	c.1477C>T	c.(1477-1479)Ctt>Ttt	p.L493F	NLRP8_uc010etg.3_Missense_Mutation_p.L493F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	493	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CATGAGTATTCTTCGGAGAAT	0.468000														31			57		0	0	0.003610	0	0
LCE1C	353133	broad.mit.edu	37	1	152777802	152777802	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152777802G>A	uc021ozi.1	-	0	153	c.153C>T	c.(151-153)tgC>tgT	p.C51C	LCE1C_uc001fap.1_Silent_p.C51C	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	51	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGAGCCACAGCAGCCTCCGG	0.657000														43			12		0	0	0.002450	0	0
GATA2	2624	broad.mit.edu	37	3	128204928	128204928	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:128204928G>A	uc003ekm.3	-	3	948	c.513C>T	c.(511-513)ttC>ttT	p.F171F	GATA2_uc003ekn.3_Silent_p.F171F|GATA2_uc003eko.2_Silent_p.F171F	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	171					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GTGGGAAGCCGAAAAGGTGGG	0.677000			Mis		AML(CML blast transformation)									9			16		0	0	0.004007	0	0
FRMD1	79981	broad.mit.edu	37	6	168461452	168461452	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:168461452C>T	uc003qwo.4	-	8	1396	c.1331G>A	c.(1330-1332)gGt>gAt	p.G444D	FRMD1_uc003qwm.4_Missense_Mutation_p.G238D|FRMD1_uc011egs.2_Missense_Mutation_p.G215D|FRMD1_uc011egt.2_Missense_Mutation_p.G379D|FRMD1_uc003qwn.4_Missense_Mutation_p.G376D	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	444						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TTGGCTGTCACCACGTGTGCT	0.667000														6			23		0	0	0.006320	0	0
CD300E	342510	broad.mit.edu	37	17	72613347	72613347	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:72613347C>T	uc002jlb.2	-	1	435	c.298G>A	c.(298-300)Gga>Aga	p.G100R		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	100	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.G100V(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTAAGATCCAGCATCATCT	0.537000														30			68		0	0	0.003610	0	0
DNAH5	1767	broad.mit.edu	37	5	13751282	13751282	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:13751282C>T	uc003jfd.2	-	64	11158	c.11116G>A	c.(11116-11118)Gag>Aag	p.E3706K	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3706	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3706V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCACTTATCTCAGGGGTGTAG	0.448000									Kartagener syndrome					16			23		0	0	0.005443	0	0
OR2T10	127069	broad.mit.edu	37	1	248756748	248756748	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248756748C>T	uc010pzn.2	-	0	322	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTGCACCTCCCAACTGCAGG	0.547000														28			14		0	0	0.001855	0	0
WDR16	146845	broad.mit.edu	37	17	9546490	9546490	+	Missense_Mutation	SNP	G	A	A	rs138429217		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:9546490G>A	uc010coc.3	+	14	2097	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	USP43_uc002gma.4_5'Flank|USP43_uc010cod.3_5'Flank|USP43_uc010vva.2_5'Flank|WDR16_uc002gly.3_Missense_Mutation_p.R613Q|WDR16_uc002glz.3_Missense_Mutation_p.R545Q			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	613						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCATTTTGCGATGGAAGTAC	0.478000														27			32		0	0	0.003271	0	0
SLC17A9	63910	broad.mit.edu	37	20	61595008	61595008	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:61595008C>T	uc002yea.4	+	6	982	c.798C>T	c.(796-798)ttC>ttT	p.F266F	SLC17A9_uc002ydz.4_Silent_p.F260F|SLC17A9_uc011aap.1_Silent_p.F286F	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	266					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCACCTTCTTCGAGGAGACCT	0.662000														5			5		0	0	0.003080	0	0
PRKAG2	51422	broad.mit.edu	37	7	151265868	151265868	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:151265868G>A	uc003wkk.3	-	10	1778	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	PRKAG2_uc003wki.3_Silent_p.D148D|PRKAG2_uc011kvl.2_Silent_p.D264D|PRKAG2_uc003wkj.3_Silent_p.D345D|PRKAG2_uc003wkl.2_Intron|PRKAG2_uc010lqe.1_Non-coding_Transcript	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	389	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CACTGATAGGGTCAATAACGG	0.383000														9			25		0	0	0.003954	0	0
C1QB	713	broad.mit.edu	37	1	22987852	22987852	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:22987852C>T	uc001bgd.3	+	2	867	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_000491	NP_000482	P02746	C1QB_HUMAN	Homo sapiens complement component 1, q subcomponent, B chain (C1QB), mRNA.	245	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTTCCGGGTTCCTGCTCTTTC	0.602000														34			11		0	0	0.001368	0	0
HSD3B2	3284	broad.mit.edu	37	1	119965009	119965009	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:119965009C>T	uc001ehs.3	+	2	1658	c.885C>T	c.(883-885)ttC>ttT	p.F295F	HSD3B2_uc021ost.1_Silent_p.F295F|HSD3B2_uc001eht.3_Silent_p.F295F|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	295					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	GGATTGGCTTCCTGCTGGAAG	0.458000														59			15		0	0	0.003163	0	0
JARID2	3720	broad.mit.edu	37	6	15497234	15497234	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:15497234C>T	uc003nbj.3	+	6	2022	c.1778C>T	c.(1777-1779)cCg>cTg	p.P593L	JARID2_uc011diu.1_Missense_Mutation_p.P457L|JARID2_uc011div.2_Missense_Mutation_p.P421L|JARID2_uc011diw.1_Missense_Mutation_p.P555L	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	593	JmjN.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATCCCCCCTCCGGACTGGCGG	0.637000														20			12		0	0	0.004007	0	0
SYPL1	6856	broad.mit.edu	37	7	105739611	105739611	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:105739611G>A	uc003vdp.3	-	2	323	c.241C>T	c.(241-243)Cca>Tca	p.P81S	SYPL1_uc003vdo.3_Missense_Mutation_p.P63S	NM_006754	NP_874384	Q16563	SYPL1_HUMAN	Homo sapiens synaptophysin-like 1 (SYPL1), transcript variant 1, mRNA.	81	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						CACCTGAATGGATAACCAAAA	0.363000														114			22		0	0	0.005443	0	0
EPS8L2	64787	broad.mit.edu	37	11	723275	723275	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:723275C>T	uc001lqt.3	+	14	1623	c.1376C>T	c.(1375-1377)tCc>tTc	p.S459F	EPS8L2_uc001lqu.3_Missense_Mutation_p.S459F|EPS8L2_uc010qwk.2_Missense_Mutation_p.S475F|EPS8L2_uc001lqv.3_Missense_Mutation_p.S414F|EPS8L2_uc001lqw.3_Missense_Mutation_p.S71F|EPS8L2_uc001lqx.3_Missense_Mutation_p.S71F|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	459						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATAAGAAACTCCCAGAAGCAC	0.632000											OREG0020659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			11		0	0	0.000978	0	0
OR8D4	338662	broad.mit.edu	37	11	123777788	123777788	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:123777788C>T	uc010saa.2	+	0	650	c.650C>T	c.(649-651)tCa>tTa	p.S217L		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ATCATTATTTCATATGCTTTT	0.428000														26			38		0	0	0.006230	0	0
TCRB	0	broad.mit.edu	37	7	142099474	142099474	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:142099474G>A	uc003vyz.1	-	1	328	c.328C>T	c.(328-330)Ctc>Ttc	p.L110F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_Non-coding_Transcript|TCRB_uc022ane.1_Missense_Mutation_p.L110F					SubName: Full=Uncharacterized protein;																		CTGGCACAGAGATACACGGCG	0.562000														45			6		0	0	0.003080	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12832321	12832321	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:12832321G>A	uc002gnr.4	+	6	867	c.540G>A	c.(538-540)agG>agA	p.R180R	ARHGAP44_uc010vvk.2_Silent_p.R180R|ARHGAP44_uc010vvl.2_Silent_p.R180R|ARHGAP44_uc002gns.4_Intron|ARHGAP44_uc010vvm.2_Silent_p.R180R|ARHGAP44_uc010vvn.2_Non-coding_Transcript	NM_014859	NP_055674	Q17R89	RHG44_HUMAN	Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.	180	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						ATGCCCTCAGGGAAGAAATGG	0.552000														3			4		0	0	0.000248	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665768	19665768	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:19665768G>A	uc002wrl.3	+	11	1284	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	363						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AAACAGCAGGGCTTATACCAA	0.512000														33			16		0	0	0.004990	0	0
CYP2C19	1557	broad.mit.edu	37	10	96535195	96535195	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96535195C>T	uc010qnz.2	+	2	380	c.380C>T	c.(379-381)tCc>tTc	p.S127F	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.S105F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	127					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CGGCGTTTCTCCCTCATGACG	0.507000														58			15		0	0	0.006122	0	0
APOB	338	broad.mit.edu	37	2	21225031	21225031	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:21225031G>A	uc002red.3	-	28	13391	c.13263C>T	c.(13261-13263)ttC>ttT	p.F4421F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4421					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTCAGAATGGAAGTCCTTAA	0.363000														337			96		0	0	0.003610	0	0
C2CD3	26005	broad.mit.edu	37	11	73879454	73879454	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:73879454G>A	uc001ouu.2	-	1	487	c.260C>T	c.(259-261)gCt>gTt	p.A87V	PPME1_uc001ouw.3_5'Flank|C2CD3_uc001ouv.2_Missense_Mutation_p.A87V	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	87						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGTTCTCACAGCTTTTGGTTC	0.448000														10			28		0	0	0.002445	0	0
IGSF9	57549	broad.mit.edu	37	1	159900224	159900224	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:159900224G>A	uc001fur.2	-	14	2017	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	IGSF9_uc001fuq.2_Missense_Mutation_p.P591S|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	607						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGCGTGGTAGGAAGCCCTGCG	0.662000														38			18		0	0	0.002299	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060399	144060399	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:144060399G>A	uc003wel.3	+	1	755	c.637G>A	c.(637-639)Gag>Aag	p.E213K	ARHGEF5_uc003wek.3_Missense_Mutation_p.E213K	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	213					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTGCCACCTGAGGAGCTGCA	0.557000														163			30		0	0	0.002096	0	0
MUC17	140453	broad.mit.edu	37	7	100685492	100685492	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100685492C>T	uc003uxp.1	+	2	10848	c.10795C>T	c.(10795-10797)Cct>Tct	p.P3599S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3599	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P3599S(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCTTCCACTCCTTCTGTTGA	0.468000														105			21		0	0	0.003954	0	0
CDH23	64072	broad.mit.edu	37	10	73453962	73453962	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:73453962C>T	uc001jrx.4	+	19	2619	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	CDH23_uc001jry.3_Silent_p.I743I|CDH23_uc001jrz.3_Silent_p.I743I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	745	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACATCCTCATCGTTCGCGCAG	0.632000														15			6		0	0	0.003080	0	0
DPPA4	55211	broad.mit.edu	37	3	109047901	109047901	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:109047901G>A	uc003dxq.4	-	5	769	c.714C>T	c.(712-714)ctC>ctT	p.L238L	DPPA4_uc011bho.2_Missense_Mutation_p.P140S	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	238						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTCTGCAGGGAGACTTTTCC	0.517000														8			12		0	0	0.003163	0	0
NYAP1	222950	broad.mit.edu	37	7	100086917	100086917	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100086917C>T	uc003uvd.1	+	3	1732	c.1573C>T	c.(1573-1575)Ctc>Ttc	p.L525F	NYAP1_uc003uve.1_Missense_Mutation_p.L307F	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	525																	AGCTGGGGTCCTCCACCACCG	0.697000														5			4		0	0	0.000248	0	0
TLR6	10333	broad.mit.edu	37	4	38829514	38829514	+	Silent	SNP	C	T	T	rs56325560		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:38829514C>T	uc010ifg.2	-	1	1702	c.1581G>A	c.(1579-1581)ggG>ggA	p.G527G	TLR6_uc003gtm.3_Silent_p.G527G	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	527					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGGATTGTCCCCTGCTTTTA	0.413000														157			67		0	0	0.003610	0	0
SEC14L4	284904	broad.mit.edu	37	22	30887647	30887647	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:30887647C>T	uc003aid.2	-	10	1094	c.994G>A	c.(994-996)Gag>Aag	p.E332K	SEC14L4_uc011akz.1_Missense_Mutation_p.E332K|SEC14L4_uc003aie.2_Missense_Mutation_p.E317K|SEC14L4_uc003aif.2_Missense_Mutation_p.E278K	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	332	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity	p.E332D(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TCCGTCATCTCCCTAGCACTC	0.607000														48			35		0	0	0.003755	0	0
ZNF799	90576	broad.mit.edu	37	19	12501354	12501354	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:12501354G>A	uc010dyt.3	-	3	2062	c.1858C>T	c.(1858-1860)Ccg>Tcg	p.P620S	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CATCCATACGGGTTCTCTCCA	0.403000														31			52		0	0	0.003610	0	0
GOLGB1	2804	broad.mit.edu	37	3	121383332	121383332	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:121383332G>A	uc010hrc.3	-	21	9931	c.9805C>T	c.(9805-9807)Cta>Tta	p.L3269L	GOLGB1_uc003eei.4_Silent_p.L3259L|GOLGB1_uc003eej.4_Silent_p.L3225L|GOLGB1_uc021xcy.1_Silent_p.L3184L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	3259					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TAAGTCTATAGATGGCCCGTA	0.453000														22			10		0	0	0.001368	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555308	44555308	+	Silent	SNP	C	T	T	rs144408880	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:44555308C>T	uc010xdb.2	-	0	1142	c.906G>A	c.(904-906)gcG>gcA	p.A302A	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.A302A(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGAGCGCTGGCGCGGAGAGTG	0.632000														286			12		0	0	0.001855	0	0
TINAG	27283	broad.mit.edu	37	6	54173598	54173598	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:54173598G>A	uc003pcj.2	+	0	396	c.250G>A	c.(250-252)Gat>Aat	p.D84N	TINAG_uc003pci.3_Missense_Mutation_p.D84N|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	84	SMB.				Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTGCTACTGTGATAAATTCTG	0.448000														104			55		0	0	0.003610	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76573629	76573629	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:76573629C>T	uc002fex.1	+	18	3382	c.3243C>T	c.(3241-3243)atC>atT	p.I1081I	CNTNAP4_uc002feu.1_Silent_p.I1077I|CNTNAP4_uc002fev.1_Silent_p.I942I|CNTNAP4_uc010chb.1_Silent_p.I1005I	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1078	Laminin G-like 4.				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						GTTTGCAGATCAGGTACAAGT	0.333000														21			18		0	0	0.006122	0	0
APOBR	55911	broad.mit.edu	37	16	28507730	28507730	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:28507730G>A	uc002dqb.2	+	1	1401	c.1368G>A	c.(1366-1368)ggG>ggA	p.G456G	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_5'UTR	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	447	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGGAGGCAGGGGAGAGCTTTG	0.627000														24			24		0	0	0.003954	0	0
C19orf46	163183	broad.mit.edu	37	19	36496269	36496269	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:36496269C>T	uc002ocq.1	-	5	1027	c.938G>A	c.(937-939)cGt>cAt	p.R313H	C19orf46_uc021utd.1_Missense_Mutation_p.R200H|C19orf46_uc002ocr.1_Silent_p.T253T|C19orf46_uc002ocs.1_Missense_Mutation_p.R200H|C19orf46_uc010een.1_Missense_Mutation_p.R228H	NM_001039876	NP_001034965	Q8N205	SYNE4_HUMAN	Homo sapiens chromosome 19 open reading frame 46 (C19orf46), mRNA.	313					establishment of epithelial cell apical/basal polarity	integral to nuclear outer membrane	actin binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCTTTGGTGACGTGCTAAGCG	0.542000														10			20		0	0	0.001523	0	0
PYGO1	26108	broad.mit.edu	37	15	55838929	55838929	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:55838929G>A	uc002adf.1	-	2	552	c.552C>T	c.(550-552)ttC>ttT	p.F184F	PYGO1_uc010bfl.1_Silent_p.F184F	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	184	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		GAATTTGACTGAAATTTTCAG	0.333000														66			11		0	0	0.000978	0	0
TPH1	7166	broad.mit.edu	37	11	18048056	18048056	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:18048056G>A	uc001mnp.2	-	5	810	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	262					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	GTATAGAAGGGATCTGAACTG	0.388000														9			17		0	0	0.008871	0	0
MUC17	140453	broad.mit.edu	37	7	100680060	100680060	+	Missense_Mutation	SNP	C	T	T	rs145956810	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100680060C>T	uc003uxp.1	+	2	5416	c.5363C>T	c.(5362-5364)tCg>tTg	p.S1788L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1788	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.S1788L(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCACTTCGTCTCCTACA	0.537000														124			159		0	0	0.003610	0	0
OSMR	9180	broad.mit.edu	37	5	38925305	38925305	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:38925305G>A	uc003jln.2	+	15	2447	c.2045_splice	c.e15-1	p.D682_splice	OSMR_uc011cpj.2_Splice_Site	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	682	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					AAAAATCACAGATGGTTCAGA	0.328000														39			23		0	0	0.002299	0	0
PML	5371	broad.mit.edu	37	15	74325046	74325046	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:74325046C>T	uc002awv.3	+	4	1528	c.1388C>T	c.(1387-1389)tCc>tTc	p.S463F	PML_uc002awj.1_Intron|PML_uc002awm.3_Missense_Mutation_p.S463F|PML_uc002awl.3_Intron|PML_uc002awk.3_Missense_Mutation_p.S463F|PML_uc002awn.3_Missense_Mutation_p.S463F|PML_uc002awo.3_Intron|PML_uc002awp.3_Intron|PML_uc002awq.3_Missense_Mutation_p.S463F|PML_uc002awr.3_Missense_Mutation_p.S463F|PML_uc002aws.3_Intron|PML_uc002awt.3_Intron|PML_uc002awu.3_Intron|PML_uc010ule.2_Missense_Mutation_p.S24F|PML_uc002awx.3_Intron|PML_uc002awy.3_Intron	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	463					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAAGGCCCTTCCTATGGAGAG	0.627000			T	"""RARA, PAX5"""	"""APL, ALL"""									24			12		0	0	0.001855	0	0
PRCC	5546	broad.mit.edu	37	1	156756879	156756879	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:156756879C>T	uc001fqa.3	+	2	1286	c.996C>T	c.(994-996)gcC>gcT	p.A332A		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	332					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding	p.G331W(1)	PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAAGTGGGGCCCCTTGGATGC	0.567000			T	TFE3	papillary renal									139			35		0	0	0.006230	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														10			17		0	0	0.006122	0	0
RFX7	64864	broad.mit.edu	37	15	56386044	56386044	+	Silent	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:56386044A>T	uc010bfn.3	-	8	3882	c.3882T>A	c.(3880-3882)ccT>ccA	p.P1294P	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Silent_p.P1108P	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	1197					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGTTGGCACTAGGAAAAACAG	0.423000														53			18		0	0	0.007413	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125298562	125298562	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:125298562G>A	uc004euk.2	-	0	1519	c.1346C>T	c.(1345-1347)cCt>cTt	p.P449L		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	449								p.G448R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGAAGGGAGAGGCCCCCCAGC	0.562000														20			35		0	0	0.003271	0	0
ZHX1	11244	broad.mit.edu	37	8	124267564	124267564	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:124267564T>A	uc003yqe.3	-	2	1233	c.623A>T	c.(622-624)gAa>gTa	p.E208V	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.E208V|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.E208V|ZHX1_uc022bak.1_Missense_Mutation_p.E208V	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	208					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTCTTTCTCTTCAGGAACGTC	0.338000														45			34		0	0	0.002836	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43654270	43654270	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:43654270C>T	uc001jan.3	+	2	1104	c.769C>T	c.(769-771)Ctc>Ttc	p.L257F	CSGALNACT2_uc001jam.1_Missense_Mutation_p.L257F	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	257					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTTTGGACCTCTCATGAAAGT	0.393000														43			9		0	0	0.006214	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120298859	120298859	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:120298859C>T	uc001pxl.2	+	7	823	c.488C>T	c.(487-489)cCg>cTg	p.P163L	ARHGEF12_uc009zat.3_Missense_Mutation_p.P144L|ARHGEF12_uc010rzn.1_Missense_Mutation_p.P60L|ARHGEF12_uc009zau.1_Missense_Mutation_p.P60L|ARHGEF12_uc021qrm.1_Missense_Mutation_p.P144L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	163					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAAGTAGAGCCGTCAGTCATT	0.542000			T	MLL	AML									35			64		0	0	0.003610	0	0
PLXNA1	5361	broad.mit.edu	37	3	126751319	126751319	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:126751319C>T	uc003ejg.3	+	28	5321	c.5321C>T	c.(5320-5322)tCg>tTg	p.S1774L	PLXNA1_uc003ejh.3_Missense_Mutation_p.S419L	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1774					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCCTGCTTGTCGGTGGTGGCC	0.587000														38			12		0	0	0.001368	0	0
FCN2	2220	broad.mit.edu	37	9	137775148	137775148	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:137775148G>A	uc004cfg.1	+	3	225	c.215_splice	c.e3-1	p.G72_splice	FCN2_uc004cfh.1_Splice_Site_p.G34_splice	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	72	Collagen-like.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GAAATTGCAGGAGAACGTGGC	0.587000														16			14		0	0	0.001882	0	0
TULP4	56995	broad.mit.edu	37	6	158924506	158924507	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:158924506_158924507CC>TT	uc003qrf.3	+	12	5168_5169	c.3811_3812CC>TT	c.(3811-3813)ccc>TTc	p.P1271F	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1271					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGCCTGCCCGCCCATGCAGAAC	0.629000														14			26		0	0	0.004672	0	0
RBM46	166863	broad.mit.edu	37	4	155719008	155719008	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:155719008G>A	uc003ioo.3	+	2	370	c.197G>A	c.(196-198)gGa>gAa	p.G66E	RBM46_uc011cim.1_Missense_Mutation_p.G66E|RBM46_uc003iop.1_Missense_Mutation_p.G66E	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	66	RRM 1.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GTTTTTGTAGGAAAAATACCT	0.363000														38			20		0	0	0.003330	0	0
LILRA1	11024	broad.mit.edu	37	19	55106176	55106176	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55106176C>T	uc002qgh.1	+	3	299	c.117C>T	c.(115-117)atC>atT	p.I39I	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.I39I	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	39	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCTCTGTGATCACCCAGGGGA	0.542000														16			28		0	0	0.008361	0	0
PDE1C	5137	broad.mit.edu	37	7	31918775	31918775	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:31918775C>T	uc003tcm.2	-	3	720	c.259G>A	c.(259-261)Gag>Aag	p.E87K	PDE1C_uc003tcn.1_Missense_Mutation_p.E87K|PDE1C_uc003tco.2_Missense_Mutation_p.E147K|PDE1C_uc003tcr.3_Missense_Mutation_p.E87K|PDE1C_uc003tcs.3_Missense_Mutation_p.E87K	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	87					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCTCATCCTCTGTATCCAGG	0.522000														31			11		0	0	0.000978	0	0
UGT3A1	133688	broad.mit.edu	37	5	35968231	35968231	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:35968231A>C	uc003jjv.2	-	2	394	c.201T>G	c.(199-201)atT>atG	p.I67M	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.I67M|UGT3A1_uc011cor.2_Missense_Mutation_p.I33M|UGT3A1_uc003jjy.2_Missense_Mutation_p.I13M	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	67						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTCCTCTTTAATATCTAAGA	0.274000														14			9		0	0	0.004482	0	0
C17orf57	124989	broad.mit.edu	37	17	45479563	45479563	+	Silent	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:45479563T>C	uc002iln.3	+	17	2442	c.2011T>C	c.(2011-2013)Tta>Cta	p.L671L	C17orf57_uc002ilm.3_Silent_p.L575L	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	671							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						TGCTGCCAGGTTAGAAGGTAA	0.323000														8			42		0	0	0.003610	0	0
C7orf63	79846	broad.mit.edu	37	7	89937106	89937106	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:89937106G>A	uc010lep.3	+	20	2739	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	C7orf63_uc011khj.2_Missense_Mutation_p.E812K|C7orf63_uc011khk.2_Missense_Mutation_p.E346K	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	830							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAAGCAAAGAGAGCTGGCTAA	0.328000														10			15		0	0	0.007413	0	0
ZNF98	148198	broad.mit.edu	37	19	22586228	22586228	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22586228C>A	uc002nqt.2	-	1	239	c.117G>T	c.(115-117)agG>agT	p.R39S		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACATCACATTCCTATATAAAT	0.383000														15			51		7.47603e-22	1.14946e-21	0.003610	1	0
MXRA5	25878	broad.mit.edu	37	X	3241350	3241350	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:3241350C>T	uc004crg.4	-	4	2533	c.2376G>A	c.(2374-2376)ggG>ggA	p.G792G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	792						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGAGATTTTTCCCACGGACTT	0.453000														21			35		0	0	0.004878	0	0
GABRE	2564	broad.mit.edu	37	X	151123221	151123221	+	Silent	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:151123221A>T	uc004ffi.3	-	8	1527	c.1473T>A	c.(1471-1473)acT>acA	p.T491T	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	491					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGAAGAAAGTCACTGGGA	0.542000														10			14		0	0	0.002450	0	0
C1orf173	127254	broad.mit.edu	37	1	75055476	75055476	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:75055476C>T	uc001dgg.3	-	11	2234	c.2015G>A	c.(2014-2016)gGa>gAa	p.G672E	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G466E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	672	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTCTCCGTTCCTTCTTTAAG	0.403000														48			40		0	0	0.002522	0	0
RNF126	55658	broad.mit.edu	37	19	651691	651691	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:651691C>T	uc010drs.3	-	3	475	c.363G>A	c.(361-363)cgG>cgA	p.R121R		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	121							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGCCGTACCGGTGCCGGG	0.751000														2			6		0	0	0.001984	0	0
FSD2	123722	broad.mit.edu	37	15	83455883	83455883	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:83455883C>T	uc002bjd.2	-	1	427	c.260G>A	c.(259-261)gGg>gAg	p.G87E	FSD2_uc010uol.1_Missense_Mutation_p.G87E|FSD2_uc010uom.1_Missense_Mutation_p.G87E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	87										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						AAACTCATCCCCTAATTCATG	0.458000														134			13		0	0	0.002450	0	0
LCE3D	84648	broad.mit.edu	37	1	152552287	152552287	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152552287C>T	uc021oza.1	-	0	126	c.126G>A	c.(124-126)ggG>ggA	p.G42G	LCE3D_uc001fab.3_Silent_p.G42G	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	Homo sapiens late cornified envelope 3D (LCE3D), mRNA.	42					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGCCACAGCCCCCAGAGCTTG	0.662000														38			9		0	0	0.004482	0	0
FOXP2	93986	broad.mit.edu	37	7	114282580	114282580	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:114282580C>T	uc003vhb.3	+	6	1265	c.891C>T	c.(889-891)tcC>tcT	p.S297S	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.S322S|FOXP2_uc003vha.3_Silent_p.S205S|FOXP2_uc011kmv.2_Silent_p.S296S|FOXP2_uc011kmu.2_Silent_p.S314S|FOXP2_uc010ljz.2_Silent_p.S205S|FOXP2_uc003vgx.2_Silent_p.S297S|FOXP2_uc003vhc.3_Silent_p.S322S|FOXP2_uc003vhd.3_Silent_p.S297S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	297				DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439).	camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACAATTCCTCCTCGACTACCT	0.443000														24			35		0	0	0.004289	0	0
CAPN10	11132	broad.mit.edu	37	2	241537805	241537805	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:241537805C>T	uc002vzk.2	+	10	2176	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Silent_p.F126F|CAPN10_uc002vzl.2_Silent_p.F505F|CAPN10_uc002vzn.2_Silent_p.F532F|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	660					actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TGGGCCAGTTCCTCCAAGAGG	0.622000														19			7		0	0	0.004482	0	0
ARC	23237	broad.mit.edu	37	8	143694973	143694973	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:143694973G>A	uc022bca.1	-	0	660	c.660C>T	c.(658-660)ttC>ttT	p.F220F	ARC_uc003ywn.1_Silent_p.F220F	NM_015193	NP_056008	Q7LC44	ARC_HUMAN	Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.	220					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGTGGCTCAGGAACTCTCGAG	0.662000														22			5		0	0	0.001168	0	0
ANKRD45	339416	broad.mit.edu	37	1	173593929	173593929	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:173593929G>A	uc001gja.1	-	4	788	c.727C>T	c.(727-729)Cca>Tca	p.P243S		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	259										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						AACTTACATGGTGTAGTCATT	0.338000														34			8		0	0	0.008291	0	0
SNRNP48	154007	broad.mit.edu	37	6	7605713	7605713	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:7605713C>T	uc003mxr.3	+	6	859	c.800C>T	c.(799-801)gCc>gTc	p.A267V	SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_Missense_Mutation_p.A19V	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	267					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAGGATGATGCCGAAAAGTAC	0.368000														41			16		0	0	0.004990	0	0
KRT12	3859	broad.mit.edu	37	17	39017914	39017914	+	Silent	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:39017914T>C	uc002hvk.2	-	7	1508	c.1484A>G	c.(1483-1485)tAa>tGa	p.*495*		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	0					visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TGTGAAATTTTACATTAGTTC	0.378000														11			64		0	0	0.003610	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605513	159605513	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:159605513C>T	uc003fcq.2	+	7	1422	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.S387F|IQCJ-SCHIP1_uc003fcs.2_Missense_Mutation_p.S338F|IQCJ-SCHIP1_uc003fct.2_Missense_Mutation_p.S325F|IQCJ-SCHIP1_uc021xgm.1_Missense_Mutation_p.S106F|IQCJ-SCHIP1_uc010hvz.1_Missense_Mutation_p.S298F|IQCJ-SCHIP1_uc003fcu.2_Missense_Mutation_p.S95F	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	338						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						CAGAGTTCTTCCTATTCTGAT	0.468000														142			38		0	0	0.002522	0	0
ATP8A2	51761	broad.mit.edu	37	13	26163833	26163833	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:26163833T>G	uc001uqk.3	+	23	2349	c.2207T>G	c.(2206-2208)tTg>tGg	p.L736W	ATP8A2_uc010tdi.2_Missense_Mutation_p.L696W|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.L246W	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	696					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GAGGACTCTTTGGATGTAAGT	0.368000														25			34		0	0	0.002836	0	0
USP43	124739	broad.mit.edu	37	17	9631771	9631771	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:9631771C>T	uc010cod.3	+	14	2836	c.2836C>T	c.(2836-2838)Cga>Tga	p.R946*	USP43_uc002gma.4_Nonsense_Mutation_p.R635*|USP43_uc010vva.2_Nonsense_Mutation_p.R941*|USP43_uc010coe.3_Nonsense_Mutation_p.R743*|USP43_uc002gmc.4_Nonsense_Mutation_p.R458*	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	946					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAAACCAGCTCGACCGGAGGG	0.527000														6			5		0	0	0.000602	0	0
DCLK3	85443	broad.mit.edu	37	3	36759579	36759579	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:36759579C>T	uc003cgi.2	-	3	2166	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	559	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCGTCCTGGTCCCTCTCAGGG	0.557000														35			64		0	0	0.003610	0	0
RIMS2	9699	broad.mit.edu	37	8	104898241	104898241	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:104898241G>A	uc003yls.3	+	1	989	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	RIMS2_uc003ylp.3_Missense_Mutation_p.E472K|RIMS2_uc003ylw.2_Missense_Mutation_p.E280K|RIMS2_uc003ylq.3_Missense_Mutation_p.E280K|RIMS2_uc003ylr.3_Missense_Mutation_p.E280K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	503					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.L249P(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AACAAAACGGGAAAAAATGGA	0.448000										HNSCC(12;0.0054)				11			6		0	0	0.001168	0	0
TBX20	57057	broad.mit.edu	37	7	35280521	35280521	+	Silent	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:35280521A>G	uc011kas.2	-	4	1263	c.783T>C	c.(781-783)ttT>ttC	p.F261F		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	261						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TGACTGCCGTAAAAACTGTTT	0.403000														27			8		0	0	0.004482	0	0
TP53BP2	7159	broad.mit.edu	37	1	223984142	223984142	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:223984142G>A	uc001hod.3	-	13	2523	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L	TP53BP2_uc010pvb.2_Missense_Mutation_p.P700L|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Missense_Mutation_p.P339L	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	694					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GAGTGGCCGAGGAATTCTTTC	0.448000														56			45		0	0	0.003610	0	0
NOS1AP	9722	broad.mit.edu	37	1	162337146	162337146	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:162337146G>A	uc001gbv.2	+	9	1797	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	NOS1AP_uc001gbw.2_Silent_p.T465T|NOS1AP_uc010pks.1_Non-coding_Transcript|NOS1AP_uc009wut.1_Silent_p.T175T	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	470					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGTCCAACACGGACGAGAGCG	0.667000														8			8		0	0	0.003080	0	0
ECE2	9718	broad.mit.edu	37	3	184009212	184009212	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:184009212C>T	uc003fni.4	+	17	2498	c.2460C>T	c.(2458-2460)ttC>ttT	p.F820F	ECE2_uc011brh.1_3'UTR|ECE2_uc003fnl.4_Silent_p.F748F|ECE2_uc003fnm.4_Silent_p.F702F|ECE2_uc003fnk.4_Silent_p.F673F|ECE2_uc011bri.1_Silent_p.F735F	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	820	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	p.F673F(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCTCTTCTTCGTGGGATTTG	0.592000														32			21		0	0	0.002299	0	0
FAM46C	54855	broad.mit.edu	37	1	118165518	118165518	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:118165518G>A	uc021osq.1	+	0	28	c.28G>A	c.(28-30)Gat>Aat	p.D10N	FAM46C_uc001ehe.3_Missense_Mutation_p.D10N	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	10										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CTGTACCAGGGATTGCATGTC	0.527000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				15			17		0	0	0.001523	0	0
KIAA0319	9856	broad.mit.edu	37	6	24582553	24582553	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:24582553C>T	uc011djo.2	-	5	1615	c.1115G>A	c.(1114-1116)tGg>tAg	p.W372*	KIAA0319_uc011djp.2_Nonsense_Mutation_p.W327*|KIAA0319_uc003neh.1_Nonsense_Mutation_p.W372*|KIAA0319_uc011djq.1_Nonsense_Mutation_p.W363*|KIAA0319_uc011djr.1_Nonsense_Mutation_p.W372*|KIAA0319_uc010jpt.1_5'UTR	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	372	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TATTAAATTCCATTCATAGTT	0.393000														81			67		0	0	0.003610	0	0
H6PD	9563	broad.mit.edu	37	1	9323951	9323951	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:9323951C>T	uc001apt.3	+	4	1672	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	467	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCATATCTTCCATGGCCGGAA	0.602000														59			75		0	0	0.003610	0	0
ESPNL	339768	broad.mit.edu	37	2	239039003	239039003	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:239039003G>A	uc002vxq.4	+	8	1758	c.1648G>A	c.(1648-1650)Gtc>Atc	p.V550I	ESPNL_uc010fyw.3_Missense_Mutation_p.V246I	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	550										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CAGCATCACGGTCAACAGCCA	0.697000														13			6		0	0	0.003080	0	0
DICER1	23405	broad.mit.edu	37	14	95593004	95593004	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:95593004C>T	uc001ydw.2	-	7	1028	c.816G>A	c.(814-816)atG>atA	p.M272I	DICER1_uc021sbc.1_Missense_Mutation_p.M272I|DICER1_uc001ydv.2_Missense_Mutation_p.M262I|DICER1_uc001ydx.2_Missense_Mutation_p.M272I	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	272	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CTTCTAATTCCATCAGCAGTC	0.333000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					58			32		0	0	0.003271	0	0
CDH18	1016	broad.mit.edu	37	5	19571825	19571825	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:19571825G>A	uc003jgd.3	-	7	1650	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CDH18_uc011cnm.2_Silent_p.I372I|CDH18_uc003jgc.3_Silent_p.I372I|CDH18_uc021xwu.1_Silent_p.I372I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	372	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I372I(3)		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)					CCCCAACAATGATCTTCAGCA	0.408000														17			10		0	0	0.006214	0	0
CYP2C19	1557	broad.mit.edu	37	10	96466555	96466555	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96466555C>T	uc001kjv.4	+	4	983	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CYP2C19_uc001kjw.4_Intron|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	219					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GCAATAATTTCCCTGCTCTCA	0.299000														7			8		0	0	0.006214	0	0
IL16	3603	broad.mit.edu	37	15	81592524	81592524	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:81592524C>T	uc021ssh.1	+	12	2958	c.2857C>T	c.(2857-2859)Caa>Taa	p.Q953*	IL16_uc010blq.1_Nonsense_Mutation_p.Q907*|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Nonsense_Mutation_p.Q995*|IL16_uc002bgg.3_Nonsense_Mutation_p.Q953*|IL16_uc002bgi.1_Nonsense_Mutation_p.Q343*|IL16_uc002bgj.3_Nonsense_Mutation_p.Q447*|IL16_uc021ssi.1_Nonsense_Mutation_p.Q252*|IL16_uc002bgl.1_Nonsense_Mutation_p.Q252*|IL16_uc010unq.1_Nonsense_Mutation_p.Q252*	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	953					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TGAGGAATCTCAAGGCCCAGT	0.612000														13			13		0	0	0.001855	0	0
VPS13D	55187	broad.mit.edu	37	1	12316509	12316509	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:12316509C>T	uc001atv.3	+	7	930	c.789C>T	c.(787-789)ccC>ccT	p.P263P	VPS13D_uc001atw.3_Silent_p.P263P	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	263					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGCACAGTCCCCGTATTGATT	0.502000														84			59		0	0	0.003610	0	0
MTOR	2475	broad.mit.edu	37	1	11199665	11199666	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11199665_11199666GG>AA	uc001asd.3	-	34	5043_5044	c.4922_4923CC>TT	c.(4921-4923)tcc>tTT	p.S1641F		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1641	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGACCACAAGGGACCGCACCAT	0.500000														61			42		0	0	0.004672	0	0
CCDC144A	9720	broad.mit.edu	37	17	16703556	16703556	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:16703556G>A	uc010cpj.1	+	18		c.4667G>A			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		TTGGCCAATGGATTCCTTTAT	0.527000														12			17		0	0	0.007413	0	0
SETD2	29072	broad.mit.edu	37	3	47164380	47164380	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:47164380G>A	uc003cqv.3	-	2	1799	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	SETD2_uc003cqs.3_Silent_p.I582I	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAGACTGTTTGATTTCTTCAT	0.323000			"""N, F, S, Mis"""		clear cell renal carcinoma									10			23		0	0	0.001882	0	0
MYLK2	85366	broad.mit.edu	37	20	30419644	30419644	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:30419644C>T	uc002wwq.2	+	10	1665	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	MYLK2_uc002wws.2_Silent_p.I138I|MYLK2_uc010gdw.1_Non-coding_Transcript	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	521	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCAACCTCATCGTCAAGGACC	0.532000														73			14		0	0	0.003163	0	0
GON4L	54856	broad.mit.edu	37	1	155735709	155735709	+	Silent	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:155735709A>C	uc001flz.2	-	20	3652	c.3555T>G	c.(3553-3555)gtT>gtG	p.V1185V	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Silent_p.V1185V|GON4L_uc009wrh.1_Silent_p.V1185V|GON4L_uc001fma.1_Silent_p.V1185V|GON4L_uc001fmb.4_Silent_p.V381V|GON4L_uc001fmc.3_Silent_p.V1185V|GON4L_uc001fmd.4_Silent_p.V1185V|GON4L_uc009wri.3_Silent_p.V771V	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1185					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AAGTAGGGTTAACCAAGAGGG	0.507000														46			11		0	0	0.000978	0	0
ZNRF3	84133	broad.mit.edu	37	22	29444392	29444392	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:29444392C>T	uc003aeg.3	+	6	928	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	ZNRF3_uc021wnq.1_Missense_Mutation_p.P210S	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	310						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCGGGTCATCCCCTGTACTCA	0.607000														28			15		0	0	0.002450	0	0
ADAM28	10863	broad.mit.edu	37	8	24170910	24170910	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:24170910C>T	uc003xdy.3	+	5	476	c.393C>T	c.(391-393)ttC>ttT	p.F131F	ADAM28_uc003xdx.3_Silent_p.F131F|ADAM28_uc011kzz.2_Intron|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	131					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGGGCTACTTCAGTCAGGGGG	0.378000														17			13		0	0	0.004007	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606150	1606150	+	Silent	SNP	G	A	A	rs148824156	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:1606150G>A	uc001ltu.1	-	0	364	c.330C>T	c.(328-330)ggC>ggT	p.G110G	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	110	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAGCCACAGCCCC	0.667000														4			13		0	0	0.006122	0	0
COL4A4	1286	broad.mit.edu	37	2	227915730	227915730	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:227915730C>T	uc021vxr.1	-	31	3214	c.3113G>A	c.(3112-3114)aGa>aAa	p.R1038K	COL4A4_uc021vxs.1_Missense_Mutation_p.R1038K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1038	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AATGAACCCTCTTAGACCAGT	0.542000														72			20		0	0	0.001882	0	0
LAYN	143903	broad.mit.edu	37	11	111430975	111430975	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:111430975C>T	uc001plr.1	+	7	1277	c.941C>T	c.(940-942)tCa>tTa	p.S314L	LAYN_uc001plp.1_Missense_Mutation_p.S306L|LAYN_uc010rwg.1_Missense_Mutation_p.S161L|LAYN_uc010rwh.2_Missense_Mutation_p.S162L	NM_178834	NP_849156	Q6UX15	LAYN_HUMAN	Homo sapiens layilin (LAYN), mRNA.	314						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		AAGAATATTTCATTCCGAGTG	0.498000														12			25		0	0	0.005443	0	0
NFAM1	150372	broad.mit.edu	37	22	42793936	42793936	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:42793936G>A	uc003bcn.4	-	3	629	c.591C>T	c.(589-591)gaC>gaT	p.D197D		NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN	Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA.	197					B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			large_intestine(1)|lung(3)	4						TCCTGGTGGGGTCCTTCCCTG	0.637000														51			30		0	0	0.001786	0	0
MC4R	4160	broad.mit.edu	37	18	58038642	58038642	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:58038642T>C	uc002lie.1	-	0	1360	c.941A>G	c.(940-942)aAa>aGa	p.K314R		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	314					G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GATGATCTCTTTGAAGGTTTT	0.413000														49			13		0	0	0.001855	0	0
CACNG2	10369	broad.mit.edu	37	22	36960623	36960623	+	Silent	SNP	G	A	A	rs1065089		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:36960623G>A	uc003aps.2	-	3	816	c.747C>T	c.(745-747)tcC>tcT	p.S249S		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	249					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGGCGTCCCTGGAGTGTGAGG	0.677000														78			67		0	0	0.003610	0	0
ZNF311	282890	broad.mit.edu	37	6	28963143	28963143	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28963143G>A	uc003nlu.2	-	6	2147	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	ZNF311_uc011dlk.1_Nonsense_Mutation_p.R454*|ZNF311_uc003nlv.2_Nonsense_Mutation_p.R454*	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R546*(2)|p.H545Y(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TGAATTCTTCGATGATTGGTC	0.453000														41			25		0	0	0.001786	0	0
LRP1	4035	broad.mit.edu	37	12	57598428	57598428	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:57598428C>T	uc001snd.3	+	71	11556	c.11090C>T	c.(11089-11091)cCc>cTc	p.P3697L		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3697	LDL-receptor class A 30.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGTGCCCTCCCAACCGGCCC	0.632000														84			17		0	0	0.006122	0	0
KCND2	3751	broad.mit.edu	37	7	119914951	119914951	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:119914951C>T	uc003vjj.1	+	0	1230	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	89	Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGACCGTGACCCAGACATCTT	0.517000														70			88		0	0	0.003610	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602681	96602681	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96602681C>T	uc010qnz.2	+	6	1049	c.1049C>T	c.(1048-1050)gCt>gTt	p.A350V	CYP2C19_uc010qny.2_Missense_Mutation_p.A328V	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	350					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TACACAGATGCTGTGGTGCAC	0.542000														42			53		0	0	0.003610	0	0
FILIP1	27145	broad.mit.edu	37	6	76022922	76022922	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:76022922T>A	uc010kbe.3	-	5	3165	c.2635A>T	c.(2635-2637)Agg>Tgg	p.R879W	FILIP1_uc003phy.1_Missense_Mutation_p.R876W|FILIP1_uc003phz.3_Missense_Mutation_p.R777W|FILIP1_uc003pia.3_Missense_Mutation_p.R876W|FILIP1_uc003pib.1_Missense_Mutation_p.R628W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	876										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCGTTTTCCCTCTTTCTCATC	0.512000														52			35		0	0	0.002836	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96646451	96646451	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:96646451G>A	uc010yug.1	-	4		c.761C>T								Homo sapiens cDNA FLJ54441 complete cds, highly similar to Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TACACATCTCGAGAAAACACA	0.368000														8			7		0	0	0.003080	0	0
WDR86	349136	broad.mit.edu	37	7	151093146	151093146	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:151093146G>A	uc011kvk.1	-	2	891	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	WDR86_uc003wka.2_Missense_Mutation_p.P106S|WDR86_uc003wkb.2_Missense_Mutation_p.P148S|WDR86_uc003wkc.2_Missense_Mutation_p.P20S			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	148										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTCCCACGGGGCAGAGTAG	0.692000														21			5		0	0	0.000602	0	0
SLFN12	55106	broad.mit.edu	37	17	33749255	33749255	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:33749255C>T	uc002hji.4	-	1	1170	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K	SLFN12_uc002hjj.4_Missense_Mutation_p.E265K|SLFN12_uc010cts.3_Missense_Mutation_p.E265K	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	265							ATP binding	p.E265K(2)|p.I264I(1)		breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGGACTTTTCGATTTCTCTT	0.343000														26			30		0	0	0.002445	0	0
TTN	7273	broad.mit.edu	37	2	179642597	179642597	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179642597G>A	uc021vsy.1	-	24	4539	c.4314C>T	c.(4312-4314)tcC>tcT	p.S1438S	TTN_uc021vsz.1_Silent_p.S1392S|TTN_uc021vta.1_Silent_p.S1392S|TTN_uc021vtb.1_Silent_p.S1392S|TTN_uc002unb.2_Silent_p.S1438S|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1438	ZIS5.						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)			TACGTCCAGGGGACATTCTTG	0.488000														35			29		0	0	0.002096	0	0
MYOM2	9172	broad.mit.edu	37	8	2089090	2089090	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:2089090C>T	uc003wpx.4	+	33	4129	c.3991C>T	c.(3991-3993)Cag>Tag	p.Q1331*	MYOM2_uc011kwi.2_Nonsense_Mutation_p.Q756*	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1331					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGCAGAATTCCAGCAATTCAA	0.368000														30			4		0	0	0.000602	0	0
DAPK1	1612	broad.mit.edu	37	9	90258300	90258300	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:90258300C>T	uc004apc.3	+	10	1066	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DAPK1_uc004ape.3_Missense_Mutation_p.R310C|DAPK1_uc004apd.3_Missense_Mutation_p.R310C|DAPK1_uc011ltg.2_Missense_Mutation_p.R310C|DAPK1_uc011lth.2_Missense_Mutation_p.R47C	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	310	Calmodulin-binding.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCAATCCGTTCGCTTGATATC	0.428000									Chronic Lymphocytic Leukemia, Familial Clustering of					9			13		0	0	0.001368	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955842	18955842	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:18955842G>A	uc001mpg.3	-	0	708	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	164					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCACTGAACAGGAAGCCACAT	0.562000														47			12		0	0	0.001368	0	0
C1orf101	257044	broad.mit.edu	37	1	244756834	244756834	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:244756834C>T	uc001iam.3	+	16	2316	c.2257C>T	c.(2257-2259)Cct>Tct	p.P753S	C1orf101_uc001iak.1_Missense_Mutation_p.P307S|C1orf101_uc001ial.3_Missense_Mutation_p.P753S|C1orf101_uc010pym.2_Missense_Mutation_p.P602S|C1orf101_uc010pyn.2_Missense_Mutation_p.P686S	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	753						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATATGGCTGCCCTCTGAGGCT	0.323000														26			19		0	0	0.006122	0	0
BCL2L2-PABPN1	100529063	broad.mit.edu	37	14	23793409	23793410	+	Missense_Mutation	DNP	CC	TT	TT	rs143507010		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:23793409_23793410CC>TT	uc001wjh.4	+	7	1102_1103	c.873_874CC>TT	c.(871-876)gcccgc>gcTTgc	p.R292C	BCL2L2-PABPN1_uc001wjj.3_Missense_Mutation_p.R265C|BCL2L2-PABPN1_uc001wjk.3_Missense_Mutation_p.R265C	NM_001199864	NP_001186793			Homo sapiens BCL2L2-PABPN1 readthrough (BCL2L2-PABPN1), mRNA.																		TTCCACGAGCCCGCTACCGCGC	0.545000														9			17		0	0	0.004672	0	0
HMCN1	83872	broad.mit.edu	37	1	186083236	186083236	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:186083236C>T	uc001grq.1	+	72	11486	c.11257C>T	c.(11257-11259)Cta>Tta	p.L3753L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3753	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAGCTGTTCTAGCTGGGAA	0.368000														47			9		0	0	0.006214	0	0
LRIT3	345193	broad.mit.edu	37	4	110791480	110791480	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:110791480G>A	uc003hzx.4	+	2	1633	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	LRIT3_uc003hzw.4_Silent_p.K342K	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	480	Fibronectin type-III.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ATGGTGGGAAGGACCTGCTGC	0.478000														57			40		0	0	0.003610	0	0
PAK7	57144	broad.mit.edu	37	20	9546694	9546694	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:9546694C>T	uc002wnl.2	-	5	1873	c.1328G>A	c.(1327-1329)gGa>gAa	p.G443E	PAK7_uc002wnk.2_Missense_Mutation_p.G443E|PAK7_uc002wnj.2_Missense_Mutation_p.G443E|PAK7_uc010gby.1_Missense_Mutation_p.G443E	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	443	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTGGGGTCTCCTGGGCTGAC	0.607000														33			12		0	0	0.001855	0	0
TCF4	6925	broad.mit.edu	37	18	52899845	52899845	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:52899845G>A	uc002lga.3	-	17	1910	c.1850C>T	c.(1849-1851)tCc>tTc	p.S617F	TCF4_uc021ukg.1_Missense_Mutation_p.S355F|TCF4_uc021ukh.1_Missense_Mutation_p.S355F|TCF4_uc002lfw.4_Missense_Mutation_p.S355F|TCF4_uc010xdu.1_Missense_Mutation_p.S385F|TCF4_uc010xdv.1_Missense_Mutation_p.S385F|TCF4_uc021uki.1_Missense_Mutation_p.S444F|TCF4_uc002lfx.2_Missense_Mutation_p.S444F|TCF4_uc010xdw.1_Missense_Mutation_p.S385F|TCF4_uc002lfy.2_Missense_Mutation_p.S473F|TCF4_uc010xdx.1_Missense_Mutation_p.S491F|TCF4_uc021ukj.1_Missense_Mutation_p.S455F|TCF4_uc021ukk.1_Missense_Mutation_p.S455F|TCF4_uc021ukl.1_Missense_Mutation_p.S512F|TCF4_uc002lfz.2_Missense_Mutation_p.S515F|TCF4_uc010dph.1_Missense_Mutation_p.S515F|TCF4_uc010dpi.3_Missense_Mutation_p.S521F|TCF4_uc010xdy.1_Missense_Mutation_p.S491F	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	515	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CTCGTCATCGGATTTGATCTC	0.468000														35			14		0	0	0.003163	0	0
PUM2	23369	broad.mit.edu	37	2	20463139	20463139	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:20463139G>A	uc002rds.1	-	12	2058	c.2040C>T	c.(2038-2040)tcC>tcT	p.S680S	PUM2_uc002rdq.1_Silent_p.S57S|PUM2_uc002rdt.1_Silent_p.S680S|PUM2_uc002rdr.2_Silent_p.S540S|PUM2_uc010yjy.1_Silent_p.S601S|PUM2_uc002rdu.1_Silent_p.S680S|PUM2_uc010yjz.1_Silent_p.S619S	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	680	Ser-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATAGACTGGAAGTGCTTG	0.458000														52			12		0	0	0.000978	0	0
CLEC18A	348174	broad.mit.edu	37	16	70219787	70219787	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:70219787G>A	uc002exy.3	+	12	1332	c.1212_splice	c.e12-1	p.G404_splice	CLEC18A_uc002eyk.3_Splice_Site_p.G404_splice	NM_182619	NP_872425	A5D8T8	CL18A_HUMAN	Homo sapiens C-type lectin domain family 18, member A (CLEC18A), transcript variant 1, mRNA.	404	C-type lectin.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						ATGGCCTGCAGGTTTGGCAAC	0.592000														25			15		0	0	0.001882	0	0
IARS2	55699	broad.mit.edu	37	1	220316450	220316450	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:220316450C>T	uc001hmc.3	+	20	2829	c.2725C>T	c.(2725-2727)Cct>Tct	p.P909S		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	909					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTGATAGAACCTGGACTGCT	0.408000														45			9		0	0	0.004482	0	0
MMP16	4325	broad.mit.edu	37	8	89058897	89058897	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:89058897C>T	uc003yeb.4	-	9	1771	c.1489_splice	c.e9+1	p.G497_splice		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	497	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGTTGCATACCATTTTCTTTG	0.393000														33			10		0	0	0.006214	0	0
FBN1	2200	broad.mit.edu	37	15	48738959	48738959	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:48738959G>A	uc001zwx.2	-	46	6127	c.5732C>T	c.(5731-5733)tCc>tTc	p.S1911F	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1911	EGF-like 32; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCAGTTGAAGGAACCAATTGT	0.398000														20			6		0	0	0.003080	0	0
LRIG1	26018	broad.mit.edu	37	3	66436534	66436534	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:66436534C>T	uc003dmx.3	-	12	1674	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.E174K|LRIG1_uc003dmw.3_Missense_Mutation_p.E220K|LRIG1_uc010hnz.3_Missense_Mutation_p.E270K|LRIG1_uc010hoa.3_Missense_Mutation_p.E578K	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	554	Ig-like C2-type 1.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCATCACTTCCCCGTCCTGC	0.562000														22			48		0	0	0.003610	0	0
ESPNP	284729	broad.mit.edu	37	1	17023188	17023188	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:17023188G>A	uc001azn.1	-	10	1675	c.1561_splice	c.e10-1	p.P521_splice						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CGGCCAATCGGGCTGCAGGGA	0.692000														17			4		0	0	0.000602	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257055	114257055	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:114257055C>T	uc002tjw.4	+	0	395	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	74					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.I74I(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GAGAGCACATCGAGGGCGGCG	0.701000														44			57		0	0	0.003610	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460402	107460402	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:107460402C>T	uc002tdq.3	-	1	151	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R11Q|ST6GAL2_uc002tds.3_Missense_Mutation_p.R11Q	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	11					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R11Q(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GAAAAGCATTCGTTGTCTCCA	0.507000														36			10		0	0	0.000978	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536922	146536922	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:146536922G>T	uc003weu.2	+	2	844	c.328G>T	c.(328-330)Gtg>Ttg	p.V110L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	110	F5/8 type C.				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)			CTCAGATTGGGTGACCCAATA	0.478000										HNSCC(39;0.1)				22			27		2.85442e-18	4.38642e-18	0.002096	1	0
UGT1A1	54658	broad.mit.edu	37	2	234526553	234526553	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:234526553G>A	uc002vup.3	+	0	263	c.200G>A	c.(199-201)gGa>gAa	p.G67E	UGT1A1_uc010zmv.1_Missense_Mutation_p.G67E	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	69					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)	TGGCAACTGGGAAAATCACTG	0.502000														73			21		0	0	0.001882	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073120	17073120	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:17073120G>A	uc002zlp.1	-	0	581	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	107					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.F107F(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGAACCACGAAGGCTGTGC	0.662000														17			8		0	0	0.006214	0	0
TRPM6	140803	broad.mit.edu	37	9	77416879	77416879	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:77416879C>T	uc004ajl.1	-	15	2182	c.1944G>A	c.(1942-1944)atG>atA	p.M648I	TRPM6_uc004ajk.1_Missense_Mutation_p.M643I|TRPM6_uc022bib.1_Missense_Mutation_p.M643I|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	648					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTCATGGGCCATTGCCCGGT	0.468000														14			24		0	0	0.003954	0	0
MMP25	64386	broad.mit.edu	37	16	3107594	3107594	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:3107594G>A	uc002cth.3	+	6	1223	c.986G>A	c.(985-987)gGg>gAg	p.G329E	BC045731_uc002ctj.1_Intron	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	329	Hemopexin-like 1.				inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						AACATCCGAGGGGAAACTTTC	0.537000														36			25		0	0	0.005443	0	0
ANKRD24	170961	broad.mit.edu	37	19	4222739	4222739	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:4222739C>T	uc010dtt.1	+	19	3520	c.3244C>T	c.(3244-3246)Cct>Tct	p.P1082S		NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	1082										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCTCGCCACCCCTGAGGTGGA	0.597000														3			5		0	0	0.001168	0	0
ARMC4	55130	broad.mit.edu	37	10	28101521	28101521	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:28101521C>T	uc009xky.3	-	19	3153	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	ARMC4_uc010qds.2_Silent_p.R584R|ARMC4_uc010qdt.2_Missense_Mutation_p.D711N|ARMC4_uc001itz.3_Missense_Mutation_p.D1019N	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	1019							binding	p.D1019Y(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TCCTGGAGATCCTGGTCAGGG	0.418000														47			16		0	0	0.004990	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768774	127768774	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:127768774T>A	uc011ebs.2	-	4	1026	c.690A>T	c.(688-690)gaA>gaT	p.E230D	KIAA0408_uc003qbc.3_Missense_Mutation_p.E230D|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Missense_Mutation_p.E113D	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	230							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTTTCTGTTTTTCTTTTTCTA	0.353000														12			22		0	0	0.001882	0	0
SF3B1	23451	broad.mit.edu	37	2	198257176	198257176	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:198257176G>A	uc002uue.3	-	24	3814	c.3766C>T	c.(3766-3768)Cac>Tac	p.H1256Y		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	1256					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGGGCTGGGTGAAACAGACCC	0.328000			Mis		myelodysplastic syndrome									10			8		0	0	0.003080	0	0
PEX5L	51555	broad.mit.edu	37	3	179593207	179593207	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:179593207G>A	uc003fki.1	-	5	694	c.564C>T	c.(562-564)acC>acT	p.T188T	PEX5L_uc011bqd.1_Silent_p.T145T|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_Silent_p.T80T|PEX5L_uc003fkj.1_Silent_p.T153T|PEX5L_uc010hxd.1_Silent_p.T186T|PEX5L_uc011bqg.1_Silent_p.T164T|PEX5L_uc011bqh.1_Silent_p.T129T	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	188					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GATGTCCCTTGGTATTTCGAT	0.423000														46			9		0	0	0.006214	0	0
CYP3A7	1551	broad.mit.edu	37	7	99305539	99305539	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:99305539C>T	uc003uru.3	-	11	1415	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	ZNF498_uc003urn.3_Non-coding_Transcript|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	438					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTTCTGGGTCCACTTCCAAAG	0.383000														110			22		0	0	0.003330	0	0
LEPR	3953	broad.mit.edu	37	1	66102189	66102189	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:66102189G>A	uc001dci.3	+	19	3378	c.2989G>A	c.(2989-2991)Gaa>Aaa	p.E997K	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	997					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TAAACCAAGTGAAACTGGTGA	0.438000														23			9		0	0	0.006214	0	0
CLEC18B	497190	broad.mit.edu	37	16	74443540	74443540	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:74443540C>T	uc002fct.3	-	12	1439	c.1239_splice	c.e12-1	p.G413_splice	CLEC18B_uc002fcu.3_Splice_Site_p.G404_splice	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	413	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTTGCCAAACCTGCAGGCCAG	0.602000														63			7		0	0	0.003080	0	0
VCPIP1	80124	broad.mit.edu	37	8	67578227	67578227	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:67578227G>C	uc003xwn.3	-	0	1226	c.967C>G	c.(967-969)Cta>Gta	p.L323V	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	323	OTU.				protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AGCCCAGGTAGAAAGGTGGCT	0.443000														27			32		0	0	0.002096	0	0
MYOC	4653	broad.mit.edu	37	1	171621369	171621369	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:171621369C>G	uc001ghu.3	-	0	405	c.383G>C	c.(382-384)cGg>cCg	p.R128P	MYOC_uc010pmk.2_Intron	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	128					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGCTGGTCCCGCTCCCGCCT	0.612000														25			30		0	0	0.002445	0	0
GPC2	221914	broad.mit.edu	37	7	99773368	99773368	+	Silent	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:99773368A>G	uc003utv.3	-	2	643	c.475T>C	c.(475-477)Ttg>Ctg	p.L159L	GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Silent_p.L159L|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	159						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTGTCATCCAACCCCTCACCA	0.597000														36			8		0	0	0.003080	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81192376	81192376	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:81192376G>A	uc001kak.3	-	1	572	c.385C>T	c.(385-387)Cca>Tca	p.P129S	ZCCHC24_uc010qlr.2_Missense_Mutation_p.P69L|ZCCHC24_uc009xrw.3_Non-coding_Transcript	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN	Homo sapiens zinc finger, CCHC domain containing 24 (ZCCHC24), mRNA.	129							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TAGTTGGGTGGGGGCCGCTTG	0.632000														28			19		0	0	0.002299	0	0
AP1M2	10053	broad.mit.edu	37	19	10692467	10692467	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:10692467C>T	uc002mpd.3	-	3	439	c.355G>A	c.(355-357)Gac>Aac	p.D119N	AP1M2_uc002mpc.3_Missense_Mutation_p.D119N	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	119					cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			AAGCCAAAGTCCATGAGCTCG	0.577000														4			12		0	0	0.002450	0	0
HTRA3	94031	broad.mit.edu	37	4	8304194	8304194	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:8304194G>A	uc003gla.3	+	6	1263	c.1056G>A	c.(1054-1056)tgG>tgA	p.W352*		NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	352					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TTCCAGACTGGAAGAAGCGCT	0.582000														35			21		0	0	0.004656	0	0
LCT	3938	broad.mit.edu	37	2	136558221	136558221	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:136558221G>A	uc002tuu.1	-	11	4833	c.4822C>T	c.(4822-4824)Ccc>Tcc	p.P1608S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1608	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGTTAGAGGGATCTCTGGGT	0.532000														39			8		0	0	0.003080	0	0
VWA2	340706	broad.mit.edu	37	10	116032518	116032518	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:116032518G>A	uc001lbl.1	+	5	712	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	VWA2_uc001lbk.1_Missense_Mutation_p.E131K|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	131	VWFA 1.		E -> G (in dbSNP:rs597371).			extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CACGGAGACGGAACTTGCTCT	0.517000														36			11		0	0	0.002450	0	0
SLC12A1	6557	broad.mit.edu	37	15	48541797	48541797	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:48541797C>T	uc001zwn.4	+	13	1926	c.1710C>T	c.(1708-1710)atC>atT	p.I570I	SLC12A1_uc010uew.1_Silent_p.I376I|SLC12A1_uc010bem.3_Silent_p.I570I|SLC12A1_uc001zwq.4_Silent_p.I341I|SLC12A1_uc001zwr.4_Silent_p.I297I	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	570					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTGCTCCCATCATCTCCAACT	0.428000														39			14		0	0	0.004990	0	0
ITGAX	3687	broad.mit.edu	37	16	31391661	31391661	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:31391661C>T	uc002ebt.3	+	26	3202	c.3135C>T	c.(3133-3135)ttC>ttT	p.F1045F	ITGAX_uc002ebu.1_Silent_p.F1045F	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1045					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGCTGGATTTCACCCTGAAGG	0.632000														12			7		0	0	0.003080	0	0
PCDH15	65217	broad.mit.edu	37	10	55569295	55569295	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:55569295C>T	uc021pqv.1	-	34	4593	c.4565G>A	c.(4564-4566)aGa>aAa	p.R1522K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqw.1_Silent_p.K1508K|PCDH15_uc010qht.2_Silent_p.K1503K|PCDH15_uc021pqx.1_Missense_Mutation_p.R1520K	NM_001142770	NP_001136242	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant J, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTTAATTTTCTTTGGCTCTT	0.403000										HNSCC(58;0.16)				107			36		0	0	0.005524	0	0
OR5T3	390154	broad.mit.edu	37	11	56020208	56020208	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:56020208C>T	uc010rjd.2	+	0	533	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCACTGCTTCCTACGTTGCT	0.433000														23			46		0	0	0.003610	0	0
ZFP64	55734	broad.mit.edu	37	20	50769921	50769921	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:50769921G>A	uc002xwl.3	-	5	1159	c.810C>T	c.(808-810)atC>atT	p.I270I	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Silent_p.I268I|ZFP64_uc002xwn.3_Silent_p.I216I	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTCCGAGCTGATTTTGAACT	0.552000														26			20		0	0	0.002299	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110447418	110447418	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:110447418G>A	uc003yne.3	+	29	3445	c.3341_splice	c.e29-1	p.E1114_splice		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1114	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTTTCACAAGAAAAAGAGCT	0.388000										HNSCC(38;0.096)				69			16		0	0	0.003163	0	0
SPATA6	54558	broad.mit.edu	37	1	48865252	48865252	+	Nonsense_Mutation	SNP	G	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:48865252G>C	uc001crr.2	-	6	747	c.551C>G	c.(550-552)tCa>tGa	p.S184*	SPATA6_uc001crs.2_Nonsense_Mutation_p.S184*|SPATA6_uc010omv.2_Nonsense_Mutation_p.S170*	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	184					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTGTGATCTTGATGTTCTGTT	0.313000														21			7		0	0	0.001984	0	0
TRIM68	55128	broad.mit.edu	37	11	4621530	4621530	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:4621530G>A	uc001lzf.2	-	6	1724	c.1434C>T	c.(1432-1434)atC>atT	p.I478I	TRIM68_uc010qyj.2_Non-coding_Transcript	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	478	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCAGGGAGCAGATGGCCAGAG	0.577000														4			18		0	0	0.001523	0	0
PBX1	5087	broad.mit.edu	37	1	164789377	164789377	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:164789377G>A	uc001gct.3	+	6	1529	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	PBX1_uc010pku.2_Missense_Mutation_p.D356N|PBX1_uc001gcs.3_Intron|PBX1_uc010pkv.2_Missense_Mutation_p.D273N|PBX1_uc010pkw.1_Missense_Mutation_p.D246N	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	356					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACTCAATGGGGATTCTTACCA	0.498000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									37			12		0	0	0.004990	0	0
CNTN3	5067	broad.mit.edu	37	3	74349059	74349059	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:74349059C>T	uc003dpm.1	-	15	2206	c.2126G>A	c.(2125-2127)gGa>gAa	p.G709E		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	709	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.N708S(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCCGCCTCCTCCATTGACTTC	0.438000														20			37		0	0	0.002852	0	0
MFHAS1	9258	broad.mit.edu	37	8	8748817	8748817	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:8748817G>A	uc003wsj.1	-	0	2315	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	584	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AGCGCAGCTCGAAGTCCCGGG	0.637000														19			26		0	0	0.007291	0	0
RHCE	6006	broad.mit.edu	37	1	25715555	25715555	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:25715555G>A	uc001bkf.3	-	5	937	c.851C>T	c.(850-852)tCg>tTg	p.S284L	RHCE_uc001bkg.3_Missense_Mutation_p.S284L|RHCE_uc001bkh.3_Missense_Mutation_p.S179L|RHCE_uc001bki.3_Intron|RHCE_uc001bkj.3_Missense_Mutation_p.S268L	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	284						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTGACACGAGGTACCCAC	0.567000														17			17		0	0	0.002780	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573688	106573688	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:106573688G>A	uc003ymd.3	+	3	422	c.399G>A	c.(397-399)atG>atA	p.M133I		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	133					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTGGGAAGATGGACTTGAATA	0.433000														23			4		0	0	0.000602	0	0
SPAST	6683	broad.mit.edu	37	2	32341264	32341264	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:32341264C>T	uc002roc.3	+	6	1302	c.1081C>T	c.(1081-1083)Cct>Tct	p.P361S	SPAST_uc002rod.3_Missense_Mutation_p.P329S	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	361	Sufficient for microtubule severing.		P -> L (in SPG4).		ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGTTATTCTTCCTTCTCTGAG	0.333000														34			20		0	0	0.001523	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628503	173628503	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:173628503C>T	uc001gja.1	-	1	116	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ANKRD45_uc001gjb.4_Missense_Mutation_p.E19K	NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	35										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						ttttcctcttcttGCTGTGAG	0.413000														16			5		0	0	0.000602	0	0
HDAC8	55869	broad.mit.edu	37	X	71787749	71787749	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:71787749G>A	uc004eau.3	-	3	769	c.427C>T	c.(427-429)Cat>Tat	p.H143Y	HDAC8_uc011mqe.2_5'UTR|HDAC8_uc011mqg.2_Intron|HDAC8_uc011mqf.2_Intron|HDAC8_uc011mqh.2_Intron|HDAC8_uc010nlk.2_Missense_Mutation_p.H14Y|HDAC8_uc004eav.3_Missense_Mutation_p.H143Y|HDAC8_uc022byv.1_Intron|HDAC8_uc022byw.1_Missense_Mutation_p.H143Y|HDAC8_uc022byx.1_Missense_Mutation_p.H143Y	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	143	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTCTTTGCATGATGCCACCCT	0.418000														18			38		0	0	0.006999	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834424	61834424	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:61834424G>A	uc002yeh.3	-	3	1162	c.868C>T	c.(868-870)Ccc>Tcc	p.P290S	YTHDF1_uc011aaq.2_Missense_Mutation_p.P240S	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	290	Gln/Pro-rich.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGTGGAGAGGGTGCCTGCTGG	0.657000														24			23		0	0	0.001882	0	0
GPR98	84059	broad.mit.edu	37	5	89938704	89938704	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:89938704G>A	uc003kju.3	+	12	2495	c.2399G>A	c.(2398-2400)cGa>cAa	p.R800Q	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	800					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACATCATCCGATCAAGGGGG	0.398000														22			54		0	0	0.003610	0	0
DCHS1	8642	broad.mit.edu	37	11	6653573	6653573	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:6653573C>T	uc001mem.1	-	5	3571	c.3170G>A	c.(3169-3171)cGg>cAg	p.R1057Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1057	Cadherin 10.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGTGCTGCCCGCACCCATAG	0.597000														9			20		0	0	0.002780	0	0
NLRP12	91662	broad.mit.edu	37	19	54313804	54313804	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:54313804C>T	uc002qcj.4	-	2	1329	c.1109G>A	c.(1108-1110)aGg>aAg	p.R370K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R370K|NLRP12_uc002qci.4_Missense_Mutation_p.R370K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R370K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	370	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GTATTCCTTCCTTTCTGCCTC	0.542000														46			77		0	0	0.003610	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935886	151935886	+	Missense_Mutation	SNP	C	T	T	rs145513270	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:151935886C>T	uc022chl.1	-	0	281	c.281G>A	c.(280-282)gGg>gAg	p.G94E	MAGEA3_uc004fgp.3_Missense_Mutation_p.G94E	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	94										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTTGGCCCCTCCTCTTC	0.577000														23			25		0	0	0.008361	0	0
MYO15A	51168	broad.mit.edu	37	17	18055172	18055172	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:18055172G>A	uc021trm.1	+	39	8019	c.7800G>A	c.(7798-7800)ggG>ggA	p.G2600G	MYO15A_uc021trl.1_Silent_p.G2598G|MYO15A_uc010vxi.2_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2600	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGATGGCGGGAAAGTGTTCA	0.567000														1			5		0	0	0.001984	0	0
PTPRH	5794	broad.mit.edu	37	19	55693237	55693237	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55693237C>T	uc002qjq.3	-	19	3306	c.3233G>A	c.(3232-3234)cGg>cAg	p.R1078Q	PTPRH_uc010esv.3_Missense_Mutation_p.R900Q|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1078	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1078Q(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTGGAGGAACCGCAGGATGCA	0.627000														20			26		0	0	0.005443	0	0
UNC5C	8633	broad.mit.edu	37	4	96091445	96091445	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:96091445C>T	uc003hto.3	-	14	2843	c.2490G>A	c.(2488-2490)gcG>gcA	p.A830A		NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	830					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGATGGTGTTCGCAGGATCCA	0.552000														115			49		0	0	0.003610	0	0
WIPF2	147179	broad.mit.edu	37	17	38420841	38420841	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:38420841C>T	uc002hug.1	+	4	653	c.413C>T	c.(412-414)aCa>aTa	p.T138I	WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_5'UTR|WIPF2_uc002hui.1_Missense_Mutation_p.T138I|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.T138I	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	138						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CAGGATGATACAGACAGCAGC	0.612000										HNSCC(43;0.11)				98			39		0	0	0.005524	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883065	228883065	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:228883065C>T	uc002vpq.2	-	6	2552	c.2505G>A	c.(2503-2505)ctG>ctA	p.L835L	SPHKAP_uc002vpp.2_Silent_p.L835L|SPHKAP_uc010zlx.1_Silent_p.L835L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	835						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTATTCCTTTCAGATATATTT	0.488000														50			17		0	0	0.004007	0	0
RERE	473	broad.mit.edu	37	1	8420722	8420722	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:8420722G>A	uc001ape.3	-	18	3655	c.2845C>T	c.(2845-2847)Ccc>Tcc	p.P949S	RERE_uc001apf.3_Missense_Mutation_p.P949S|RERE_uc010nzx.1_Missense_Mutation_p.P681S|RERE_uc001apd.3_Missense_Mutation_p.P395S	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	949	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAGAGGTGGGGAGGGTGCTTG	0.697000														46			32		0	0	0.004878	0	0
GRP	2922	broad.mit.edu	37	18	56892918	56892918	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:56892918G>A	uc002lhv.3	+	1	432	c.334G>A	c.(334-336)Gat>Aat	p.D112N	GRP_uc002lhu.3_Missense_Mutation_p.D112N|GRP_uc002lhw.3_Missense_Mutation_p.D112N	NM_002091	NP_002082	P07492	GRP_HUMAN	Homo sapiens gastrin-releasing peptide (GRP), transcript variant 1, mRNA.	112					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GCCTTCGTGGGATTCAGAGGA	0.498000														52			20		0	0	0.001523	0	0
EXOSC9	5393	broad.mit.edu	37	4	122728768	122728768	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:122728768T>A	uc003iea.3	+	5	704	c.596T>A	c.(595-597)tTc>tAc	p.F199Y	EXOSC9_uc003idz.3_Missense_Mutation_p.F199Y|EXOSC9_uc003ieb.3_Missense_Mutation_p.F183Y|EXOSC9_uc010inp.1_Non-coding_Transcript	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	199	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TTTGCCTTTTTCCAGCAAGGG	0.363000														44			13		0	0	0.003163	0	0
PIGS	94005	broad.mit.edu	37	17	26887112	26887112	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:26887112G>A	uc002hbo.2	-	6	1147	c.774C>T	c.(772-774)ttC>ttT	p.F258F	PIGS_uc002hbn.2_Silent_p.F250F|PIGS_uc010wap.1_Silent_p.F197F	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	258					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					GGGCATTCAGGAAAGGTTGCA	0.512000														21			22		0	0	0.001882	0	0
DDX11	1663	broad.mit.edu	37	12	31236788	31236788	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:31236788C>T	uc001rjt.1	+	2	437	c.186C>T	c.(184-186)ctC>ctT	p.L62L	DDX11_uc010sjw.1_Silent_p.L62L|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Silent_p.L62L|DDX11_uc001rjs.1_Silent_p.L62L|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.L62L|DDX11_uc001rjw.1_Silent_p.L36L	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	62	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TCTCTTGGCTCCGTGACTTTG	0.458000										Multiple Myeloma(12;0.14)				73			35		0	0	0.004289	0	0
PLCH1	23007	broad.mit.edu	37	3	155314033	155314033	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:155314033C>T	uc021xge.1	-	1	455	c.178G>A	c.(178-180)Gag>Aag	p.E60K	PLCH1_uc021xgd.1_Missense_Mutation_p.E60K|PLCH1_uc021xgf.1_Missense_Mutation_p.E42K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	60	PH.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTTGCCTTCTCACTCTTCCTA	0.483000														139			46		0	0	0.003610	0	0
FMOD	2331	broad.mit.edu	37	1	203317352	203317352	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:203317352G>A	uc001gzr.3	-	1	183	c.47C>T	c.(46-48)tCc>tTc	p.S16F		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	16					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			CTGGGCCTGGGAGAGGGAGAA	0.567000														39			9		0	0	0.006214	0	0
CACNA1I	8911	broad.mit.edu	37	22	40057217	40057217	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:40057217C>T	uc003ayc.3	+	15	2803	c.2803C>T	c.(2803-2805)Cga>Tga	p.R935*	CACNA1I_uc003ayd.3_Nonsense_Mutation_p.R900*|CACNA1I_uc003aye.3_Nonsense_Mutation_p.R850*|CACNA1I_uc003ayf.3_Nonsense_Mutation_p.R815*	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	935					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	ACCTGCCCCCCGACTCTCACT	0.657000														26			9		0	0	0.006214	0	0
FAM188A	80013	broad.mit.edu	37	10	15824206	15824206	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:15824206G>A	uc001iod.1	-	13	1357	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	FAM188A_uc001ioe.1_Missense_Mutation_p.S206F	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN	Homo sapiens family with sequence similarity 188, member A (FAM188A), mRNA.	379					apoptosis	nucleus	calcium ion binding	p.S379Y(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GACAGTAAAAGATTCTGGACC	0.323000														19			13		0	0	0.004007	0	0
TGM2	7052	broad.mit.edu	37	20	36766765	36766765	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:36766765G>A	uc002xhr.3	-	9	1465	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	TGM2_uc010zvx.2_Silent_p.A374A|TGM2_uc010zvy.2_Silent_p.A395A|TGM2_uc002xhs.1_Silent_p.A431A|TGM2_uc002xht.3_Silent_p.A455A	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	455					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CCCTTGTGAAGGCCTCCCTCT	0.582000														64			88		0	0	0.003610	0	0
SCN3A	6328	broad.mit.edu	37	2	165972057	165972057	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:165972057C>T	uc002ucx.3	-	18	3914	c.3422G>A	c.(3421-3423)gGa>gAa	p.G1141E	SCN3A_uc002ucy.3_Missense_Mutation_p.G1092E|SCN3A_uc002ucz.3_Missense_Mutation_p.G1092E|SCN3A_uc002uda.1_Missense_Mutation_p.G961E|SCN3A_uc002udb.1_Missense_Mutation_p.G961E	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1141						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AACTGTGCTTCCTTCAGATGA	0.393000														22			21		0	0	0.003330	0	0
RBM19	9904	broad.mit.edu	37	12	114386824	114386824	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:114386824C>T	uc009zwi.2	-	9	1234	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	RBM19_uc001tvn.4_Missense_Mutation_p.V364M|RBM19_uc001tvm.3_Missense_Mutation_p.V364M|TRNA_Pseudo_uc021rec.1_5'Flank	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	364	RRM 2.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCCCTGAACACCTCGATGTAG	0.562000														60			48		0	0	0.003610	0	0
MKL1	57591	broad.mit.edu	37	22	40827451	40827451	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:40827451G>A	uc003ayv.1	-	2	304	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	MKL1_uc010gyf.1_Missense_Mutation_p.R33W|MKL1_uc003ayw.1_Missense_Mutation_p.R33W|MKL1_uc010gye.1_Missense_Mutation_p.R33W	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	33	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCTCCGGCCGGGAACGAATC	0.473000			T	RBM15	acute megakaryocytic leukemia									134			128		0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	41101158	41101158	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:41101158C>T	uc002xkg.3	-	7	1382	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	PTPRT_uc010ggj.3_Missense_Mutation_p.A400T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	400	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGCTGCCGGGCTCTGATGTCT	0.567000														47			8		0	0	0.004482	0	0
COL19A1	1310	broad.mit.edu	37	6	70744136	70744136	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:70744136G>A	uc003pfc.1	+	13	1198	c.1081_splice	c.e13-1	p.G361_splice	COL19A1_uc010kam.2_Splice_Site_p.G257_splice	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	361			G -> D (in a breast cancer sample; somatic mutation).		cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCTTTCTACAGGGTTTGAAAG	0.373000														32			19		0	0	0.002299	0	0
BTK	695	broad.mit.edu	37	X	100625005	100625005	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:100625005C>T	uc010nno.2	-	4	707	c.474G>A	c.(472-474)tgG>tgA	p.W158*	BTK_uc004ehg.2_Nonsense_Mutation_p.W124*|BTK_uc010nnn.2_Nonsense_Mutation_p.W124*|BTK_uc004ehi.3_Nonsense_Mutation_p.W124*	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	124					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCTGGTGAATCCACCGCTTCC	0.428000									Agammaglobulinemia, X-linked					23			55		0	0	0.003610	0	0
EPPK1	83481	broad.mit.edu	37	8	144946353	144946353	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:144946353G>A	uc003zaa.1	-	0	1082	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	357						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCGGCCACCAGGAGCTGCTCA	0.657000														12			7		0	0	0.001984	0	0
GPR110	266977	broad.mit.edu	37	6	46975030	46975030	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:46975030C>T	uc003oyt.3	-	12	2690	c.2491_splice	c.e12-1	p.G831_splice	GPR110_uc011dwl.2_Splice_Site_p.G519_splice	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	831					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GATAAAAAATCCCTTTAAAAA	0.333000														31			8		0	0	0.003080	0	0
STOX2	56977	broad.mit.edu	37	4	184930614	184930614	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:184930614G>A	uc003ivz.1	+	2	2058	c.623G>A	c.(622-624)aGc>aAc	p.S208N	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	208					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GACGTGCACAGCACGCATGCA	0.587000														37			23		0	0	0.002299	0	0
OR2T12	127064	broad.mit.edu	37	1	248458211	248458211	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248458211G>A	uc010pzj.2	-	0	670	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V223A(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CGCATGAGCAGAACAGCAGCG	0.512000														49			18		0	0	0.007413	0	0
PRDM14	63978	broad.mit.edu	37	8	70981505	70981505	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:70981505G>A	uc003xym.3	-	1	793	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CCTCCTCCGTGAACTGGAACC	0.602000														29			10		0	0	0.006214	0	0
CD33	945	broad.mit.edu	37	19	51728536	51728536	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:51728536G>A	uc002pwa.2	+	1	140	c.100G>A	c.(100-102)Ggt>Agt	p.G34S	CD33_uc010eos.1_Missense_Mutation_p.G34S|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	34	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGTACAGGAGGGTTTGTGCGT	0.567000														15			31		0	0	0.002445	0	0
CLCA3P	9629	broad.mit.edu	37	1	87108233	87108233	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:87108233G>A	uc010osh.2	+	5		c.760G>A								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						CCAGGTGACTGAATTTTGTAC	0.333000														13			11		0	0	0.002450	0	0
TRPM8	79054	broad.mit.edu	37	2	234873370	234873370	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:234873370G>A	uc002vvh.3	+	13	1888	c.1848G>A	c.(1846-1848)gaG>gaA	p.E616E	TRPM8_uc010fyj.3_Silent_p.E304E	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	616						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGTCCGAGGAGCTGGCTAATG	0.597000														33			10		0	0	0.002450	0	0
SPAG17	200162	broad.mit.edu	37	1	118506531	118506531	+	Missense_Mutation	SNP	C	T	T	rs142632361		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:118506531C>T	uc001ehk.2	-	47	6631	c.6563G>A	c.(6562-6564)cGa>cAa	p.R2188Q		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	2188						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTCTTTTGGTCGTTTATCATA	0.338000														39			22		0	0	0.003954	0	0
SULT1B1	27284	broad.mit.edu	37	4	70599889	70599889	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:70599889C>T	uc003hen.3	-	4	767	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	157					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AGATATTCTTCCCAGGTACCA	0.299000														11			6		0	0	0.003080	0	0
TTC31	64427	broad.mit.edu	37	2	74718726	74718727	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:74718726_74718727CC>TT	uc002slt.2	+	7	826_827	c.803_804CC>TT	c.(802-804)gcc>gTT	p.A268V	TTC31_uc002sls.2_Missense_Mutation_p.A197V|TTC31_uc002slu.2_Missense_Mutation_p.A124V	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	268							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGGGGTCTGGCCCTCCAGAAGA	0.584000														42			38		0	0	0.004672	0	0
RPE65	6121	broad.mit.edu	37	1	68912463	68912463	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:68912463G>A	uc001dei.1	-	2	229	c.175C>T	c.(175-177)Cac>Tac	p.H59Y		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	59					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						TCAAACAGGTGGTAAAATGGC	0.527000														27			30		0	0	0.008361	0	0
ACTL8	81569	broad.mit.edu	37	1	18149783	18149783	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:18149783G>A	uc001bat.3	+	1	496	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	94						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ACGGGAGCAAGAGGTCCCCCC	0.617000														19			23		0	0	0.003330	0	0
DOCK1	1793	broad.mit.edu	37	10	129183058	129183058	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:129183058C>T	uc010qun.2	+	37	3876	c.3812C>T	c.(3811-3813)tCg>tTg	p.S1271L	DOCK1_uc001ljt.3_Missense_Mutation_p.S1250L|DOCK1_uc009yaq.3_Missense_Mutation_p.S245L	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1250	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.S1250L(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CCTTAGTGGTCGGAGGATGTG	0.622000														43			12		0	0	0.000978	0	0
PXDN	7837	broad.mit.edu	37	2	1653073	1653073	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:1653073G>A	uc002qxa.3	-	16	2543	c.2479C>T	c.(2479-2481)Cac>Tac	p.H827Y		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	827					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCGAGGTCGTGGTCCAGGAAC	0.652000														19			6		0	0	0.001168	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138590	126138590	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:126138590G>A	uc001uhe.1	+	8	2579	c.2571G>A	c.(2569-2571)aaG>aaA	p.K857K	TMEM132B_uc001uhf.1_Silent_p.K369K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	857						integral to membrane		p.K857T(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGGAAGGGAAGAATAAGTTAC	0.517000														33			4		0	0	0.000248	0	0
C2CD3	26005	broad.mit.edu	37	11	73879531	73879531	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:73879531G>A	uc001ouu.2	-	1	410	c.183C>T	c.(181-183)gtC>gtT	p.V61V	PPME1_uc001ouw.3_5'Flank|C2CD3_uc001ouv.2_Silent_p.V61V	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	61						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					ATCTCACTCGGACAAGTACAC	0.473000														19			29		0	0	0.006320	0	0
DSC1	1823	broad.mit.edu	37	18	28737418	28737418	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:28737418C>T	uc002kwn.3	-	2	529	c.267G>A	c.(265-267)agG>agA	p.R89R	DSC1_uc002kwm.3_Silent_p.R89R	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	89					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AAAAACTTTTCCTTTCAGAAG	0.428000														26			11		0	0	0.008291	0	0
NAMPT	10135	broad.mit.edu	37	7	105913094	105913095	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:105913094_105913095CC>TT	uc003vdq.3	-	3	636_637	c.328_329GG>AA	c.(328-330)ggg>AAg	p.G110K	NAMPT_uc003vdr.1_Missense_Mutation_p.G110K|NAMPT_uc011klu.1_Missense_Mutation_p.G23K	NM_005746	NP_005737	P43490	NAMPT_HUMAN	Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.	110					NAD biosynthetic process|cell-cell signaling|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGAAGATGCCCATCATACTTC	0.376000														19			16		0	0	0.004672	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688069	62688069	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:62688069C>T	uc003peg.2	-	3	632	c.385G>A	c.(385-387)Gat>Aat	p.D129N		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	129	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TGAAGCTCATCACTCAAGTGG	0.373000														20			14		0	0	0.002450	0	0
RFX6	222546	broad.mit.edu	37	6	117201826	117201826	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:117201826G>A	uc003pxm.3	+	2	563	c.500G>A	c.(499-501)gGa>gAa	p.G167E		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	167					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GCCACCTTTGGAAAGGTAAAT	0.403000														4			8		0	0	0.006214	0	0
MTG1	92170	broad.mit.edu	37	10	135213098	135213098	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:135213098C>T	uc001lnd.3	+	5	590	c.486C>T	c.(484-486)tcC>tcT	p.S162S	MTG1_uc010qve.2_Intron	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	162	G.					mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		TCATCAACTCCCTCCGGAGGC	0.602000														54			12		0	0	0.003163	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996194	143996194	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:143996194C>T	uc003yxk.1	-	3	729	c.726G>A	c.(724-726)agG>agA	p.R242R		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	242					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GAGACAGGCTCCTGGGCATGA	0.607000									Familial Hyperaldosteronism type I					17			6		0	0	0.001168	0	0
PVRL3	25945	broad.mit.edu	37	3	110852543	110852543	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:110852543C>T	uc003dxt.2	+	5	1390	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	PVRL3_uc003dxu.2_Intron|PVRL3_uc021xch.1_3'UTR	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	377					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CTGCTGACATCGAGGATCTAG	0.438000														13			16		0	0	0.003163	0	0
TEX13B	56156	broad.mit.edu	37	X	107224934	107224934	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:107224934C>T	uc004enn.1	-	1	517	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	142										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						ATGTCCCGCTCTCTCTGCACC	0.587000														17			25		0	0	0.003954	0	0
POTEG	404785	broad.mit.edu	37	14	19573136	19573136	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:19573136G>A	uc001vuz.1	+	7	1286	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	412										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TAAGGGTGGTGATAGAAAGGT	0.323000														74			5		0	0	0.000978	0	0
SLC15A3	51296	broad.mit.edu	37	11	60714147	60714147	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:60714147G>A	uc001nqn.2	-	1	939	c.705C>T	c.(703-705)ggC>ggT	p.G235G	SLC15A3_uc001nqo.2_Silent_p.G235G	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	235					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.V234V(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGCCCACACAGCCCACAGGGA	0.562000														26			70		0	0	0.003610	0	0
DBX1	120237	broad.mit.edu	37	11	20178065	20178065	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:20178065C>T	uc021qez.1	-	3	844	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K	DBX1_uc021qey.1_Missense_Mutation_p.E243K	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	243					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GACAGGAGTTCGCGCTCCTTG	0.622000														11			8		0	0	0.006214	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197193	44197193	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:44197193C>T	uc003oww.1	+	3	525	c.333C>T	c.(331-333)ttC>ttT	p.F111F	SLC29A1_uc021yzw.1_Silent_p.F32F|SLC29A1_uc011dvp.1_Silent_p.F51F|SLC29A1_uc003owu.1_Silent_p.F32F|SLC29A1_uc003owv.1_Silent_p.F32F|SLC29A1_uc011dvq.1_Silent_p.F74F|SLC29A1_uc003owx.1_Silent_p.F32F|SLC29A1_uc003owy.1_Silent_p.F32F|SLC29A1_uc003owz.1_Silent_p.F32F|SLC29A1_uc021yzx.1_Silent_p.F32F	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	32					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GGAATTTTTTCATGACGGCCA	0.552000														131			38		0	0	0.008740	0	0
MYPN	84665	broad.mit.edu	37	10	69961631	69961631	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:69961631A>G	uc001jnm.4	+	18	3724	c.3539A>G	c.(3538-3540)aAc>aGc	p.N1180S	MYPN_uc001jnn.4_Missense_Mutation_p.N905S|MYPN_uc001jno.4_Missense_Mutation_p.N1180S|MYPN_uc009xpt.3_Missense_Mutation_p.N1180S|MYPN_uc010qit.2_Missense_Mutation_p.N886S|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	1180	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						AAACTACAGAACTGCGGTGTT	0.483000														22			33		0	0	0.002445	0	0
COL25A1	84570	broad.mit.edu	37	4	109784531	109784531	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:109784531C>T	uc021xqo.1	-	19	1152	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	COL25A1_uc003hze.1_Missense_Mutation_p.E366K|COL25A1_uc021xqp.1_Missense_Mutation_p.E366K|COL25A1_uc003hzg.3_Missense_Mutation_p.E366K|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.E147K	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	366	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GGCCCTGCTTCCCCCCGTTCA	0.498000														28			15		0	0	0.008871	0	0
ACACA	31	broad.mit.edu	37	17	35536296	35536296	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:35536296G>A	uc002hnm.3	-	40	5064	c.4873C>T	c.(4873-4875)Ccc>Tcc	p.P1625S	ACACA_uc002hnk.3_Missense_Mutation_p.P1547S|ACACA_uc002hnl.3_Missense_Mutation_p.P1567S|ACACA_uc002hnn.3_Missense_Mutation_p.P1625S|ACACA_uc002hno.3_Missense_Mutation_p.P1662S|ACACA_uc010cuy.3_Intron	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1625					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGCAGAGGGGGAGATGGAAGA	0.448000														11			6		0	0	0.001168	0	0
FMN2	56776	broad.mit.edu	37	1	240370954	240370954	+	Silent	SNP	C	T	T	rs6143701		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:240370954C>T	uc010pye.2	+	5	3079	c.2854C>T	c.(2854-2856)Cta>Tta	p.L952L	FMN2_uc010pyd.2_Silent_p.L948L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	948	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.Q952K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCGCCCCCTCTACCCGGAGC	0.687000														2			9		0	0	0.004482	0	0
DPP10	57628	broad.mit.edu	37	2	116447265	116447265	+	Silent	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:116447265T>A	uc002tle.3	+	5	477	c.456T>A	c.(454-456)atT>atA	p.I152I	DPP10_uc002tla.2_Silent_p.I148I|DPP10_uc002tlb.2_Silent_p.I98I|DPP10_uc002tlc.2_Silent_p.I144I|DPP10_uc002tlf.2_Silent_p.I141I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	148					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AATTTCAGATTTTTCATTATT	0.264000														3			5		0	0	0.001984	0	0
TCF23	150921	broad.mit.edu	37	2	27372135	27372135	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:27372135G>A	uc010ylg.2	+	0	191	c.134G>A	c.(133-135)tGg>tAg	p.W45*		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	45					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGACCCGTGGGAAGAAAGA	0.637000														2			6		0	0	0.001168	0	0
SETBP1	26040	broad.mit.edu	37	18	42531100	42531100	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:42531100G>A	uc010dni.3	+	3	2091	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	599						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCTCACAGTCGAGACGATTCA	0.517000									Schinzel-Giedion syndrome					30			9		0	0	0.004482	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962828	73962828	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:73962828C>T	uc004eby.3	-	2	2181	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	522					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGACACCATTCATCATCATCT	0.388000														1			12		0	0	0.001368	0	0
PDE4D	5144	broad.mit.edu	37	5	58287737	58287737	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:58287737C>A	uc003jsa.2	-	7	1282	c.1110G>T	c.(1108-1110)ttG>ttT	p.L370F	PDE4D_uc003jrx.2_Missense_Mutation_p.L234F|PDE4D_uc003jry.3_Missense_Mutation_p.L68F|PDE4D_uc003jrz.3_Missense_Mutation_p.L306F|PDE4D_uc003jsb.3_Missense_Mutation_p.L309F|PDE4D_uc003jrt.2_Missense_Mutation_p.L68F|PDE4D_uc003jru.3_Missense_Mutation_p.L146F|PDE4D_uc003jrv.2_Missense_Mutation_p.L240F|PDE4D_uc003jrw.2_Missense_Mutation_p.L248F|PDE4D_uc003jrs.2_Missense_Mutation_p.L79F	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	370					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGCTGTGCATCAATTTCTTGA	0.388000														5			10		9.70103e-10	1.4845e-09	0.008291	1	0
BTLA	151888	broad.mit.edu	37	3	112218146	112218146	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:112218146G>A	uc003dza.4	-	0	263	c.60C>T	c.(58-60)atC>atT	p.I20I	BTLA_uc003dzb.4_Silent_p.I20I	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	Homo sapiens B and T lymphocyte associated (BTLA), transcript variant 1, mRNA.	20					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CCAGATATGGGATTAAGAAGA	0.433000														26			10		0	0	0.006214	0	0
MAGEA6	4105	broad.mit.edu	37	X	151870035	151870036	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:151870035_151870036CC>TT	uc022chf.1	+	0	725_726	c.725_726CC>TT	c.(724-726)ccc>cTT	p.P242L	MAGEA6_uc004ffq.1_Missense_Mutation_p.P242L|MAGEA6_uc004ffr.1_Missense_Mutation_p.P242L	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	242	MAGE.						protein binding	p.D241Y(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGGGGATCCCAAGAAGCTGC	0.545000														48			75		0	0	0.004672	0	0
SPTBN1	6711	broad.mit.edu	37	2	54853249	54853249	+	Missense_Mutation	SNP	C	T	T	rs144666036		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:54853249C>T	uc002rxu.3	+	11	1771	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	SPTBN1_uc002rxv.1_Missense_Mutation_p.R508W|SPTBN1_uc002rxx.3_Missense_Mutation_p.R495W	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	508					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAATGTCATCCGGCTCTGGGA	0.572000														57			20		0	0	0.001882	0	0
VARS	7407	broad.mit.edu	37	6	31752209	31752210	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31752209_31752210CC>AA	uc003nxe.3	-	11	1960_1961	c.1537_1538GG>TT	c.(1537-1539)ggg>TTg	p.G513L	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	513					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.G513W(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CACGAGGACCCCGAACTCCACC	0.594000														685			9		0	0	0.004672	0	0
ANKAR	150709	broad.mit.edu	37	2	190554621	190554621	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:190554621C>T	uc002uqw.2	+	2	1058	c.970C>T	c.(970-972)Cca>Tca	p.P324S	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqv.1_Missense_Mutation_p.P324S	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	324						integral to membrane	binding	p.P253S(1)|p.P324S(1)		breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TTTTCTGATTCCATTTCTACT	0.274000														64			15		0	0	0.003163	0	0
TRAV14DV4	28669	broad.mit.edu	37	14	22392672	22392672	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:22392672G>A	uc010aiz.2	+	1	270	c.195G>A	c.(193-195)atG>atA	p.M65I	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|TRAV14DV4_uc021rpk.1_Non-coding_Transcript					SubName: Full=HADV14S1; Flags: Fragment;																		GTGGGGAAATGATTTTTCTTA	0.448000														21			36		0	0	0.007835	0	0
VWA2	340706	broad.mit.edu	37	10	116032655	116032655	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:116032655G>A	uc001lbl.1	+	5	849	c.528G>A	c.(526-528)agG>agA	p.R176R	VWA2_uc001lbk.1_Silent_p.R176R|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	176	VWFA 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TGAAGGAAAGGGGTGTCACTG	0.582000														15			9		0	0	0.001368	0	0
TLL1	7092	broad.mit.edu	37	4	166795119	166795119	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:166795119C>T	uc003irh.2	+	0	710	c.63C>T	c.(61-63)ttC>ttT	p.F21F	TLL1_uc021xud.1_Silent_p.F21F|TLL1_uc011cjn.2_Silent_p.F21F|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	21					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGATTGTTTTCTACGGGGAGC	0.552000														121			72		0	0	0.003610	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71509424	71509424	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:71509424C>T	uc004agu.3	+	7	946	c.641C>T	c.(640-642)tCc>tTc	p.S214F	PIP5K1B_uc011lrq.2_Missense_Mutation_p.S214F|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	214	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CGAAGAGCATCCCGTAAAGAG	0.418000														19			17		0	0	0.004007	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3662421	3662421	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:3662421G>A	uc001akt.4	-	1		c.810C>T			TP73-AS1_uc021ofj.1_Non-coding_Transcript|TP73-AS1_uc021ofk.1_Non-coding_Transcript|TP73-AS1_uc021ofl.1_Non-coding_Transcript|TP73-AS1_uc009vlm.3_Non-coding_Transcript					Homo sapiens TP73 antisense RNA 1 (non-protein coding) (TP73-AS1), transcript variant 5, non-coding RNA.																		GCCTCCTCCGGGGAGCACCCT	0.617000														16			5		0	0	0.000602	0	0
CNKSR1	10256	broad.mit.edu	37	1	26507009	26507009	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:26507009C>T	uc001bln.4	+	1	176	c.118C>T	c.(118-120)Cag>Tag	p.Q40*	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Nonsense_Mutation_p.Q40*|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	40	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GAACCTGCTCCAGCTCTGCCC	0.632000														60			21		0	0	0.002299	0	0
BCS1L	617	broad.mit.edu	37	2	219525914	219525914	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219525914C>T	uc002vip.3	+	2	550	c.204C>T	c.(202-204)acC>acT	p.T68T	ZNF142_uc002vin.3_5'Flank|ZNF142_uc010fvt.3_5'Flank|ZNF142_uc002vim.3_5'Flank|BCS1L_uc002viq.3_Silent_p.T68T|BCS1L_uc010fvu.3_Silent_p.T68T|BCS1L_uc010fvv.3_Silent_p.T68T|BCS1L_uc002vis.3_Silent_p.T68T|BCS1L_uc021vwz.1_Silent_p.T68T	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	68					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGCTCACCCGCCACAGTA	0.562000														65			25		0	0	0.004656	0	0
ODZ1	10178	broad.mit.edu	37	X	123778993	123778993	+	Splice_Site	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:123778993C>A	uc010nqy.3	-	10	1940	c.1876_splice	c.e10+1	p.E626_splice	ODZ1_uc011muj.2_Splice_Site_p.E625_splice|ODZ1_uc004euj.3_Splice_Site_p.E626_splice	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	626	EGF-like 4.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GGATTCTGACCTTCCTCGCAT	0.463000														20			26		7.92952e-12	1.21469e-11	0.003954	1	0
GDAP2	54834	broad.mit.edu	37	1	118454616	118454616	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:118454616G>A	uc001ehf.3	-	5	858	c.559_splice	c.e5+1	p.R187_splice	GDAP2_uc001ehg.3_Splice_Site_p.R187_splice	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	187	Macro.							p.R187C(2)		kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TATTACTTACGAAGTGCTATG	0.403000														24			9		0	0	0.004482	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7807556	7807556	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:7807556G>A	uc010lro.1	+	5	422	c.140_splice	c.e5-1	p.G47_splice		NM_001193630	NP_001180559	P0CI00	Z705L_HUMAN	Homo sapiens zinc finger protein 705D-like (LOC100132396), mRNA.	47	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(2)|lung(2)	4						CACTAACAGGGTACCAGATAA	0.398000														56			12		0	0	0.003163	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169011	60169011	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:60169011G>A	uc001sqs.3	+	4	1234	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	SLC16A7_uc001sqt.3_Missense_Mutation_p.R312Q|SLC16A7_uc001squ.3_Missense_Mutation_p.R312Q|SLC16A7_uc009zqi.3_Missense_Mutation_p.R213Q|SLC16A7_uc010ssi.2_Missense_Mutation_p.R213Q	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	312						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.R312Q(2)|p.R312L(2)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATTCGACCTCGAATTCAGTAC	0.423000														95			13		0	0	0.001855	0	0
SV2B	9899	broad.mit.edu	37	15	91795075	91795075	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:91795075G>A	uc002bqv.3	+	3	1369	c.478G>A	c.(478-480)Gcg>Acg	p.A160T	SV2B_uc002bqt.3_Missense_Mutation_p.A160T|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.A9T	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	160					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGGAATGATGGCGGGCGCCTT	0.502000														201			47		0	0	0.003610	0	0
TMEM95	339168	broad.mit.edu	37	17	7258682	7258682	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:7258682C>T	uc002ggg.1	+	0	186	c.159C>T	c.(157-159)gcC>gcT	p.A53A	TMEM95_uc002ggf.1_Silent_p.A53A|TMEM95_uc002ggh.1_Silent_p.A53A			Q3KNT9	TMM95_HUMAN	Homo sapiens transmembrane protein 95 (TMEM95), mRNA.	53						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				ACTTCTCGGCCTTTGCCTTAG	0.647000														17			17		0	0	0.007413	0	0
PBX2	5089	broad.mit.edu	37	6	32155124	32155124	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32155124C>A	uc003oav.1	-	5	1190	c.919G>T	c.(919-921)Gga>Tga	p.G307*	PBX2_uc003oaw.3_Nonsense_Mutation_p.G307*	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	307							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TGGAACTTTCCGATGTTTTTC	0.547000														461			7		0.00307968	0.00468066	0.003080	1	0
C1orf87	127795	broad.mit.edu	37	1	60499180	60499180	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:60499180G>A	uc001czs.2	-	6	1105	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C		NM_152377	NP_689590	Q8N0U7	CA087_HUMAN	Homo sapiens chromosome 1 open reading frame 87 (C1orf87), mRNA.	333							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAACGAGCGATCTTCTTTT	0.433000														50			34		0	0	0.003755	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284431	130284431	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:130284431G>A	uc001qgg.4	-	4	1919	c.1561C>T	c.(1561-1563)Ccc>Tcc	p.P521S	ADAMTS8_uc001qgf.3_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	521	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CTCACCTTGGGCCTCTCCACT	0.612000														17			29		0	0	0.007291	0	0
CARD11	84433	broad.mit.edu	37	7	2977616	2977617	+	Missense_Mutation	DNP	CT	GA	GA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:2977616_2977617CT>GA	uc003smv.3	-	7	1401_1402	c.1067_1068AG>TC	c.(1066-1068)aag>aTC	p.K356I		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	356					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.K349K(1)|p.D350N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTTCACAGTCCTTTCCCAGGGT	0.559000			Mis		DLBCL									49			23		0	0	0.004672	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475513	157475513	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:157475513G>A	uc003wno.3	-	12	2026	c.1905C>T	c.(1903-1905)ctC>ctT	p.L635L	PTPRN2_uc003wnp.3_Silent_p.L618L|PTPRN2_uc003wnq.3_Silent_p.L606L|PTPRN2_uc003wnr.3_Silent_p.L597L|PTPRN2_uc011kwa.2_Silent_p.L658L	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	635						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGCAGTAGATGAGGCCAGAGG	0.632000														61			22		0	0	0.001882	0	0
LRIT1	26103	broad.mit.edu	37	10	86001151	86001152	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:86001151_86001152CC>TT	uc001kcz.1	-	0	66_67	c.44_45GG>AA	c.(43-45)tgg>tAA	p.W15*		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	15						integral to endoplasmic reticulum membrane		p.A14A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCTGGGGGGGCCACGCAAGGGC	0.668000														2			12		0	0	0.004672	0	0
ACP1	52	broad.mit.edu	37	2	271865	271865	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:271865G>A	uc002qwf.3	+	2	140	c.44_splice	c.e2-1	p.G15_splice	ACP1_uc002qwd.2_Splice_Site_p.G15_splice|ACP1_uc002qwe.4_Splice_Site|ACP1_uc002qwg.3_Splice_Site_p.G15_splice|ACP1_uc002qwh.3_Splice_Site	NM_004300	NP_004291	P24666	PPAC_HUMAN	Homo sapiens acid phosphatase 1, soluble (ACP1), transcript variant 3, mRNA.	15				CLGNICRS -> PARREAAR (in Ref. 5; AAB27085).		cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		TTTTTTTAAAGGTAACATTTG	0.448000														49			46		0	0	0.003610	0	0
OR10K2	391107	broad.mit.edu	37	1	158390029	158390029	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158390029G>A	uc010pii.2	-	0	628	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AACAATAAGGGGATAGCCAGG	0.453000														13			13		0	0	0.001368	0	0
HCK	3055	broad.mit.edu	37	20	30659560	30659560	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:30659560C>G	uc002wxh.3	+	1	395	c.158C>G	c.(157-159)cCg>cGg	p.P53R	HCK_uc010gdy.3_Missense_Mutation_p.P33R|HCK_uc021wbv.1_Missense_Mutation_p.P32R|HCK_uc002wxi.3_Missense_Mutation_p.P32R	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	53					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTGTACGTGCCGGATCCCACA	0.577000														20			16		0	0	0.003163	0	0
LTBP1	4052	broad.mit.edu	37	2	33614277	33614277	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:33614277C>T	uc021vft.1	+	31	4761	c.4738C>T	c.(4738-4740)Ccc>Tcc	p.P1580S	LTBP1_uc002rou.3_Missense_Mutation_p.P1254S|LTBP1_uc002rov.3_Missense_Mutation_p.P1201S|LTBP1_uc010ymz.2_Missense_Mutation_p.P1212S|LTBP1_uc010yna.2_Missense_Mutation_p.P1159S|LTBP1_uc010ynb.2_Missense_Mutation_p.P478S	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1580					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTGTAACATCCCCGTGACGGG	0.567000														53			19		0	0	0.007413	0	0
HDAC10	83933	broad.mit.edu	37	22	50686528	50686528	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:50686528C>T	uc003bkg.3	-	12	1501	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	HDAC10_uc010hav.3_Silent_p.G356G|HDAC10_uc003bkh.3_Silent_p.G169G|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Silent_p.G10G	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	376					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGAGGCCTCCCCTCTGGGG	0.662000														29			31		0	0	0.003271	0	0
HEATR8	374977	broad.mit.edu	37	1	55148383	55148383	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:55148383C>T	uc010ooe.1	+	13	2760	c.2436C>T	c.(2434-2436)gtC>gtT	p.V812V	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.V380V|HEATR8_uc010ood.1_Silent_p.V330V|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.V812V|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.V14V	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	812						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCTGTGATGTCCGAGACCTCC	0.612000														33			22		0	0	0.002780	0	0
PSG4	5672	broad.mit.edu	37	19	43414834	43414834	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:43414834A>G	uc002ovj.1	-	2	703	c.604T>C	c.(604-606)Tat>Cat	p.Y202H	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Missense_Mutation_p.Y202H	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	203	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCAAATAGATAGAGGGTCCTG	0.502000														52			70		0	0	0.003610	0	0
TECRL	253017	broad.mit.edu	37	4	65145874	65145874	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:65145874C>T	uc003hcv.3	-	11	1117	c.1008G>A	c.(1006-1008)tgG>tgA	p.W336*	TECRL_uc010ihi.3_Non-coding_Transcript	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	336					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCTTTTGTGCCCACAAAGACA	0.244000														13			7		0	0	0.003080	0	0
IDO1	3620	broad.mit.edu	37	8	39781029	39781029	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:39781029G>A	uc003xnm.3	+	6	693	c.579G>A	c.(577-579)cgG>cgA	p.R193R		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	193					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TGCAAGAACGGGACACTTTGC	0.373000														14			13		0	0	0.003163	0	0
NMUR1	10316	broad.mit.edu	37	2	232390102	232390102	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:232390102G>A	uc002vry.4	-	2	1043	c.933C>T	c.(931-933)gcC>gcT	p.A311A		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	311					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CGTGGAACGGGGCCCAGCAGA	0.652000														12			14		0	0	0.001855	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	A	A	rs12366766		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:132547087G>A	uc001ujn.3	+	46	8327	c.8175G>A	c.(8173-8175)caG>caA	p.Q2725Q	EP400_uc021rgq.1_Silent_p.Q2724Q|EP400_uc001ujm.3_Silent_p.Q2644Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2761	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(32)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000														40			4		0	0	0.001168	0	0
TMTC2	160335	broad.mit.edu	37	12	83359409	83359409	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:83359409A>C	uc001szt.3	+	5	2187	c.1755A>C	c.(1753-1755)ttA>ttC	p.L585F	TMTC2_uc001szr.1_Missense_Mutation_p.L585F|TMTC2_uc001szs.1_Missense_Mutation_p.L585F|TMTC2_uc010suk.2_Missense_Mutation_p.L340F	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	585						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGACATTCTTAAAGTGTTCGG	0.438000														25			31		0	0	0.001786	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389785	150389785	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150389785C>T	uc003who.3	+	2	499	c.411C>T	c.(409-411)gcC>gcT	p.A137A		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	137						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGAGGATGCCATGGGACACA	0.542000														29			9		0	0	0.004482	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976149	120976149	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:120976149G>A	uc003eec.4	+	16	1941	c.1801G>A	c.(1801-1803)Gga>Aga	p.G601R	STXBP5L_uc011bji.2_Missense_Mutation_p.G601R	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	601					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGCTAGTGAAGGAGTAACAAA	0.398000														25			19		0	0	0.002780	0	0
DISP1	84976	broad.mit.edu	37	1	223176915	223176915	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:223176915C>A	uc001hnu.2	+	9	2502	c.2176C>A	c.(2176-2178)Ctt>Att	p.L726I		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	726					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GTTTTGGTTCCTTGCCTTAAC	0.428000														649			9		0.00621372	0.00943408	0.006214	1	0
FEM1B	10116	broad.mit.edu	37	15	68582855	68582855	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:68582855C>T	uc002arg.3	+	1	1774	c.1159C>T	c.(1159-1161)Cga>Tga	p.R387*	FEM1B_uc002arh.3_Nonsense_Mutation_p.R307*	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	Homo sapiens fem-1 homolog b (C. elegans) (FEM1B), mRNA.	387					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	p.R387*(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GGATCTTCTTCGATTTGCTCA	0.398000														37			8		0	0	0.003080	0	0
RP1L1	94137	broad.mit.edu	37	8	10469422	10469422	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:10469422G>A	uc003wtc.3	-	3	2415	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	729					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AAGGTCCTGGGAAGGAAGAGA	0.607000														20			7		0	0	0.003080	0	0
SMC1B	27127	broad.mit.edu	37	22	45795022	45795022	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:45795022C>T	uc003bgc.3	-	5	1118	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	SMC1B_uc003bgd.3_Missense_Mutation_p.E356K|SMC1B_uc003bge.1_Missense_Mutation_p.E139K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	356					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAAATTTCTTCCTCAATCTGC	0.378000														96			57		0	0	0.003610	0	0
ZNF311	282890	broad.mit.edu	37	6	28966604	28966604	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28966604G>A	uc003nlu.2	-	5	833	c.322C>T	c.(322-324)Cct>Tct	p.P108S	ZNF311_uc011dlk.1_Missense_Mutation_p.P16S|ZNF311_uc003nlv.2_Missense_Mutation_p.P16S	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GGAGGTTTAGGAAATGGAAAT	0.438000														52			22		0	0	0.002299	0	0
KCNH2	3757	broad.mit.edu	37	7	150647448	150647448	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150647448G>A	uc003wic.3	-	8	2607	c.2206C>T	c.(2206-2208)Ctg>Ttg	p.L736L	KCNH2_uc003wib.3_Silent_p.L396L|KCNH2_uc011kux.2_Silent_p.L640L|KCNH2_uc003wid.3_Silent_p.L396L|KCNH2_uc003wie.3_Silent_p.L736L	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	736					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGCTGCAGCAGTGAGCGGTTC	0.647000														24			46		0	0	0.003610	0	0
CCDC60	160777	broad.mit.edu	37	12	119960745	119960745	+	Splice_Site	SNP	G	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:119960745G>C	uc001txe.3	+	10	1506	c.1041_splice	c.e10-1	p.S347_splice	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	347										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTGTTTCAGTGAGAGATCCAG	0.498000														95			73		0	0	0.003610	0	0
CDH5	1003	broad.mit.edu	37	16	66436749	66436749	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:66436749C>T	uc002eom.4	+	11	2188	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	678					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		gcggcccgcgcTGGACGCCCG	0.721000														7			9		0	0	0.004482	0	0
AOX1	316	broad.mit.edu	37	2	201502954	201502954	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:201502954C>T	uc002uvx.3	+	22	2598	c.2497C>T	c.(2497-2499)Cgc>Tgc	p.R833C	AOX1_uc010zhf.2_Missense_Mutation_p.R389C|AOX1_uc010fsu.3_Missense_Mutation_p.R199C	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	833					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGCAGTTCGCTGTGTTCT	0.458000														52			47		0	0	0.003610	0	0
TMC5	79838	broad.mit.edu	37	16	19471648	19471648	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:19471648G>A	uc002dgc.4	+	5	1889	c.1140G>A	c.(1138-1140)agG>agA	p.R380R	TMC5_uc010vaq.2_Silent_p.R380R|TMC5_uc002dgb.4_Silent_p.R380R|TMC5_uc010var.2_Silent_p.R380R|TMC5_uc002dgd.1_Silent_p.R134R|TMC5_uc002dge.4_Silent_p.R134R|TMC5_uc002dgf.4_Silent_p.R42R|TMC5_uc002dgg.4_Silent_p.R21R	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	380						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGAGAAAAGGAACCTTAGGT	0.398000														14			7		0	0	0.003080	0	0
MBL2	4153	broad.mit.edu	37	10	54530483	54530483	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:54530483G>A	uc001jjt.3	-	1	316	c.251C>T	c.(250-252)cCt>cTt	p.P84L		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	84	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGACCCAGAAGGCCCTGGATT	0.547000														75			22		0	0	0.001882	0	0
CALCR	799	broad.mit.edu	37	7	93090161	93090161	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:93090161G>A	uc003umv.2	-	9	1022	c.722C>T	c.(721-723)cCc>cTc	p.P241L	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P207L|CALCR_uc003umw.2_Missense_Mutation_p.P207L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	223					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CTCTCCATTGGGTACTACTTC	0.403000														57			17		0	0	0.004990	0	0
GPR155	151556	broad.mit.edu	37	2	175300867	175300867	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:175300867G>A	uc002uit.3	-	16	2981	c.2590C>T	c.(2590-2592)Ccc>Tcc	p.P864S	GPR155_uc002uiu.3_Missense_Mutation_p.P864S|GPR155_uc002uiv.3_Missense_Mutation_p.P864S|GPR155_uc010fqs.3_Missense_Mutation_p.P836S	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	864					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						GAATGTGAGGGTGGGGATGAA	0.423000														32			9		0	0	0.006214	0	0
GREB1	9687	broad.mit.edu	37	2	11732965	11732965	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:11732965C>T	uc002rbk.1	+	10	1709	c.1409C>T	c.(1408-1410)tCg>tTg	p.S470L	GREB1_uc002rbo.1_Missense_Mutation_p.S104L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	470						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGGCGCGAGTCGCACCTGACC	0.711000														11			6		0	0	0.003080	0	0
SPEF2	79925	broad.mit.edu	37	5	35814573	35814573	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:35814573A>T	uc003jjo.3	+	36	5498	c.5387A>T	c.(5386-5388)aAa>aTa	p.K1796I	SPEF2_uc003jjr.3_Missense_Mutation_p.K851I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1796					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGATATTAAAATAATTCTC	0.303000														19			18		0	0	0.007413	0	0
OR5B3	441608	broad.mit.edu	37	11	58170161	58170161	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:58170161G>A	uc010rkf.2	-	0	722	c.722C>T	c.(721-723)tCt>tTt	p.S241F		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S241Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATGAAATGAGAGGCACAGGT	0.443000														12			11		0	0	0.000978	0	0
ZNF423	23090	broad.mit.edu	37	16	49670581	49670581	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:49670581C>T	uc002efs.3	-	4	2780	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	ZNF423_uc010vgn.2_Missense_Mutation_p.E711K	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	828					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CAGTGCTTCTCCCGCAGGTGC	0.572000														14			12		0	0	0.001368	0	0
MYCL1	4610	broad.mit.edu	37	1	40363564	40363564	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:40363564C>T	uc001cer.2	-	2	792	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	MYCL1_uc001ces.2_Missense_Mutation_p.R192Q	NM_001033082	NP_001028253	P12524	MYCL1_HUMAN	Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA.	192						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			liver(1)|lung(1)	2	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGGGTCTGCTCGCACCGTGAT	0.507000			A		small cell lung									37			47		0	0	0.003610	0	0
FAM70B	348013	broad.mit.edu	37	13	114507929	114507929	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:114507929C>T	uc001vuh.3	+	7	768	c.741C>T	c.(739-741)atC>atT	p.I247I		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	247						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CCCAGCAGATCCTGGCCTACG	0.677000														16			35		0	0	0.003755	0	0
SVEP1	79987	broad.mit.edu	37	9	113276344	113276344	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:113276344C>T	uc010mtz.3	-	3	1344	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	SVEP1_uc010mua.1_Missense_Mutation_p.G336E|SVEP1_uc004beu.2_Missense_Mutation_p.G336E|SVEP1_uc004bev.3_Missense_Mutation_p.G80E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	336					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTGCTGATTCCTCCTGGTGA	0.522000														3			10		0	0	0.001368	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858321	15858321	+	Missense_Mutation	SNP	C	T	T	rs144162434	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:15858321C>T	uc002yju.1	-	7	1116	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	SAMSN1_uc010gky.1_Missense_Mutation_p.G177E|SAMSN1_uc002yjv.1_Missense_Mutation_p.G413E	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	345					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATCTGAATTTCCTGATGAGAT	0.428000														16			13		0	0	0.002450	0	0
KRT31	3881	broad.mit.edu	37	17	39552713	39552713	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:39552713G>A	uc002hwn.3	-	2	600	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	KRT31_uc010cxn.3_Silent_p.L183L	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	183	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCTCCTTCAGGGACTCCACC	0.582000														8			31		0	0	0.003271	0	0
MRPL39	54148	broad.mit.edu	37	21	26965265	26965265	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:26965265G>A	uc002yln.3	-	7	794	c.780C>T	c.(778-780)ttC>ttT	p.F260F	MRPL39_uc002ylo.3_Silent_p.F260F	NM_080794	NP_542984	Q9NYK5	RM39_HUMAN	Homo sapiens mitochondrial ribosomal protein L39 (MRPL39), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	260						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						TCACATCAATGAAGTCACCTA	0.358000														43			13		0	0	0.003163	0	0
DNAH9	1770	broad.mit.edu	37	17	11833300	11833300	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:11833300G>A	uc002gne.3	+	62	12063	c.11995G>A	c.(11995-11997)Gag>Aag	p.E3999K	DNAH9_uc010coo.3_Intron|DNAH9_uc002gnf.3_Missense_Mutation_p.E311K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3999	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCCTCCCCTGAGGGCCACAT	0.592000														5			12		0	0	0.002450	0	0
FBXL21	26223	broad.mit.edu	37	5	135272446	135272446	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:135272446C>T	uc021ydv.1	+	4		c.645C>T			FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydw.1_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACAAATTTTTCAGTAACTTCC	0.408000														33			54		0	0	0.003610	0	0
SLC22A25	387601	broad.mit.edu	37	11	62996844	62996844	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:62996844G>A	uc001nwr.1	-	0	281	c.281C>T	c.(280-282)cCc>cTc	p.P94L	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.P94L	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	94					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTTCCACTGGGGATGGACAAA	0.542000														17			38		0	0	0.004289	0	0
COL13A1	1305	broad.mit.edu	37	10	71678065	71678065	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:71678065G>A	uc001jql.3	+	18	1557	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R	COL13A1_uc021prz.1_Missense_Mutation_p.G319R|COL13A1_uc021psa.1_Missense_Mutation_p.G284R|COL13A1_uc021psb.1_Missense_Mutation_p.G290R|COL13A1_uc001jqk.2_Missense_Mutation_p.G319R|COL13A1_uc021psc.1_Missense_Mutation_p.G322R|COL13A1_uc021psd.1_Missense_Mutation_p.G319R|COL13A1_uc010qjf.2_Missense_Mutation_p.G284R|COL13A1_uc021pse.1_Missense_Mutation_p.G290R|COL13A1_uc021psf.1_Missense_Mutation_p.G341R|COL13A1_uc021psg.1_Missense_Mutation_p.G319R|COL13A1_uc021psh.1_Missense_Mutation_p.G322R	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	341	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TGCCGTGGCTGGGATGAAGGT	0.592000														7			9		0	0	0.001855	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325845	79325845	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:79325845C>T	uc010mpk.3	-	7	1469	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N	PRUNE2_uc022bih.1_Missense_Mutation_p.D271N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	449					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACGGGGCTGTCGTCACTGAGG	0.602000														6			10		0	0	0.006214	0	0
MEOX1	4222	broad.mit.edu	37	17	41719337	41719337	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:41719337A>T	uc002idz.3	-	2	735	c.706T>A	c.(706-708)Tcc>Acc	p.S236T	MEOX1_uc002iea.3_Missense_Mutation_p.L178H|MEOX1_uc002ieb.3_Missense_Mutation_p.S121T	NM_004527	NP_001035091	P50221	MEOX1_HUMAN	Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.	236						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		CCATTGGGGGAGATGGGCTGA	0.567000														86			59		0	0	0.003610	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148695858	148695858	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:148695858C>T	uc003lqh.3	+	10	1390	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L	AFAP1L1_uc010jgy.3_Missense_Mutation_p.P420L|AFAP1L1_uc003lqi.2_Missense_Mutation_p.P35L	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	420	PH 2.						protein binding	p.V419I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGAGGTTCCCTGCTGTGGT	0.642000														21			31		0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9066603	9066603	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9066603G>A	uc002mkp.3	-	2	21047	c.20843C>T	c.(20842-20844)tCc>tTc	p.S6948F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6950	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6948F(3)|p.S2581F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAGTCAAGGAATATGTTGA	0.448000														39			67		0	0	0.003610	0	0
NLRP13	126204	broad.mit.edu	37	19	56423089	56423089	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56423089C>T	uc010ygg.2	-	4	2119	c.2094G>A	c.(2092-2094)agG>agA	p.R698R		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	698							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTTCCAAGTCCCTTTCAAGGA	0.398000														18			29		0	0	0.003755	0	0
UBR2	23304	broad.mit.edu	37	6	42657386	42657387	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:42657386_42657387GG>TT	uc011dur.2	+	45	5402_5403	c.5104_5105GG>TT	c.(5104-5106)ggg>TTg	p.G1702L	UBR2_uc011dus.2_Missense_Mutation_p.G1347L|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Missense_Mutation_p.G290L|UBR2_uc011duu.2_Missense_Mutation_p.G94L	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1702					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.G1702V(2)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGATGACTATGGGGAGACCGAC	0.515000														462			8		0	0	0.004672	0	0
OR10G7	390265	broad.mit.edu	37	11	123909399	123909399	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:123909399G>A	uc001pzq.1	-	0	310	c.310C>T	c.(310-312)Cac>Tac	p.H104Y		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCCAGGAAGTGGAAAAAATAG	0.537000														76			19		0	0	0.002299	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95472168	95472168	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:95472168C>T	uc010fhp.3	-	15		c.2549G>A						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GTCTGCATTTCCAAATACATT	0.264000														34			39		0	0	0.002522	0	0
GPX6	257202	broad.mit.edu	37	6	28474202	28474202	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28474202C>T	uc021yrx.1	-	2	296	c.246G>A	c.(244-246)ctG>ctA	p.L82L	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	82					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GTAGTGCATTCAGTTCTGTAA	0.438000														44			17		0	0	0.007413	0	0
SDC1	6382	broad.mit.edu	37	2	20402911	20402911	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:20402911G>A	uc002rdo.1	-	3	999	c.700C>T	c.(700-702)Cca>Tca	p.P234S	SDC1_uc002rdp.1_Missense_Mutation_p.P234S|SDC1_uc010exv.3_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	234					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGATCCACTGGGGACTGGTTC	0.612000														27			29		0	0	0.002445	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157386	26157386	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:26157386C>T	uc022bub.1	+	0	284	c.284C>T	c.(283-285)tCc>tTc	p.S95F	MAGEB18_uc004dbq.2_Missense_Mutation_p.S95F	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	95							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGTCTAGGTTCCTCAAGGGAA	0.468000														13			13		0	0	0.004007	0	0
LOC392232	392232	broad.mit.edu	37	8	73157206	73157206	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:73157206C>T	uc022avu.1	-	2		c.396G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		ATTTGGTTTTCATCTACAGCA	0.423000														26			11		0	0	0.000978	0	0
FES	2242	broad.mit.edu	37	15	91434838	91434838	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:91434838C>T	uc002bpv.3	+	11	1704	c.1585C>T	c.(1585-1587)Cac>Tac	p.H529Y	FES_uc010uqj.2_Missense_Mutation_p.H401Y|FES_uc010uqk.2_Missense_Mutation_p.H511Y|FES_uc002bpx.3_Missense_Mutation_p.H459Y|FES_uc002bpy.3_Missense_Mutation_p.H471Y|FES_uc010bny.3_Missense_Mutation_p.H401Y	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	529	SH2.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTCATCGACCACCTACTGAG	0.627000														266			42		0	0	0.003610	0	0
C1orf106	55765	broad.mit.edu	37	1	200880589	200880589	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:200880589C>T	uc001gvo.3	+	8	1265	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	C1orf106_uc010ppm.2_Missense_Mutation_p.S323F	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	408										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGGTGGATTCCTTCCGGGCG	0.632000														170			42		0	0	0.003610	0	0
KLF12	11278	broad.mit.edu	37	13	74420329	74420329	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:74420329G>A	uc001vjf.3	-	3	527	c.305C>T	c.(304-306)tCc>tTc	p.S102F	KLF12_uc010aeq.3_Missense_Mutation_p.S102F|KLF12_uc001vjg.3_Missense_Mutation_p.S102F	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	102					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGCTGTCATGGAAACTGGGGA	0.468000														13			22		0	0	0.002299	0	0
SNX9	51429	broad.mit.edu	37	6	158318009	158318009	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:158318009C>T	uc003qqv.1	+	4	624	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	151					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTTCGGCCACCCCCAGGCCTA	0.622000														11			10		0	0	0.008291	0	0
MYO19	80179	broad.mit.edu	37	17	34863697	34863697	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:34863697T>C	uc010wcy.2	-	15	2290	c.1298A>G	c.(1297-1299)tAc>tGc	p.Y433C	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.Y433C|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	433	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCATTGGCGTAGTTGATGCA	0.532000														10			4		0	0	0.000602	0	0
DOPEY2	9980	broad.mit.edu	37	21	37581028	37581028	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:37581028C>T	uc002yvg.3	+	4	586	c.507C>T	c.(505-507)ctC>ctT	p.L169L	DOPEY2_uc011aeb.2_Silent_p.L169L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	169					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATGCTCTGCTCCTGAGACTGT	0.602000														33			11		0	0	0.008291	0	0
PI16	221476	broad.mit.edu	37	6	36927080	36927080	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:36927080G>A	uc021yzd.1	+	2	554	c.331G>A	c.(331-333)Gag>Aag	p.E111K	PI16_uc003omz.1_Missense_Mutation_p.E111K|PI16_uc003ona.3_Missense_Mutation_p.E111K|PI16_uc011dts.1_5'Flank	NM_001199159	NP_001186088	Q6UXB8	PI16_HUMAN	Homo sapiens peptidase inhibitor 16 (PI16), transcript variant 2, mRNA.	111						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCACGAGCGTGAGCACTACAA	0.706000														9			5		0	0	0.001984	0	0
NEU4	129807	broad.mit.edu	37	2	242755766	242755766	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:242755766C>T	uc002wcp.2	+	1	618	c.124C>T	c.(124-126)Ccc>Tcc	p.P42S	NEU4_uc010fzr.3_Missense_Mutation_p.P29S|NEU4_uc002wcm.3_Missense_Mutation_p.P29S|NEU4_uc002wco.2_Missense_Mutation_p.P29S|NEU4_uc002wcn.2_Missense_Mutation_p.P41S	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	29						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)		CTCGCTGCTCCCCGTGCCCCC	0.706000														17			19		0	0	0.008871	0	0
NPHS1	4868	broad.mit.edu	37	19	36342518	36342518	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:36342518C>T	uc002oby.3	-	1	271	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	39	Ig-like C2-type 1.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCAGGTTTTCAGGCAGGGCC	0.657000														6			11		0	0	0.001368	0	0
MYO18B	84700	broad.mit.edu	37	22	26242217	26242217	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:26242217G>A	uc003abz.1	+	18	3769	c.3519G>A	c.(3517-3519)agG>agA	p.R1173R	MYO18B_uc003aca.1_Silent_p.R1054R|MYO18B_uc010guy.1_Silent_p.R1055R|MYO18B_uc010guz.1_Silent_p.R1054R|MYO18B_uc011aka.1_Silent_p.R327R|MYO18B_uc011akb.1_Silent_p.R686R	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1173	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGTGAGGAGGAAAGCCCCGT	0.657000														25			18		0	0	0.002299	0	0
MSH5	4439	broad.mit.edu	37	6	31711783	31711783	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31711783C>T	uc003nwu.2	+	5	646	c.518C>T	c.(517-519)cCc>cTc	p.P173L	MSH5_uc003nwx.2_Missense_Mutation_p.P173L|MSH5_uc003nwv.2_Missense_Mutation_p.P173L|MSH5_uc003nww.2_Missense_Mutation_p.P173L|MSH5_uc011dof.1_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	173					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TCCATTATTCCCTTTGACTGC	0.532000								Direct reversal of damage;Mismatch excision repair (MMR)						399			155		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179393049	179393049	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179393049T>A	uc021vsy.1	-	309	99850	c.99625A>T	c.(99625-99627)Aaa>Taa	p.K33209*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.K26904*|TTN_uc021vta.1_Nonsense_Mutation_p.K26837*|TTN_uc021vtb.1_Nonsense_Mutation_p.K26712*|TTN_uc002umq.3_Nonsense_Mutation_p.K226*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34136							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)			CGGAAATTTTTGGCCTTAATT	0.423000														34			11		0	0	0.000978	0	0
TTI1	9675	broad.mit.edu	37	20	36641014	36641014	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:36641014G>A	uc002xhl.3	-	2	1414	c.1205C>T	c.(1204-1206)tCc>tTc	p.S402F	TTI1_uc002xhm.3_Missense_Mutation_p.S402F	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	402							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AAGTAACAAGGAAAGAGTAGA	0.478000														114			28		0	0	0.002445	0	0
RASAL2	9462	broad.mit.edu	37	1	178421659	178421659	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:178421659C>T	uc001glq.3	+	10	2645	c.1881C>T	c.(1879-1881)ctC>ctT	p.L627L	RASAL2_uc001glr.3_Silent_p.L479L|RASAL2_uc009wxc.3_5'UTR	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	479					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CATTATTTCTCCGTTTTCTGT	0.483000														57			43		0	0	0.002852	0	0
CSMD2	114784	broad.mit.edu	37	1	34008398	34008398	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:34008398C>T	uc001bxm.1	-	57	9376	c.9199G>A	c.(9199-9201)Gga>Aga	p.G3067R	CSMD2_uc001bxn.1_Missense_Mutation_p.G2923R	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	3041	Sushi 23.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCGTAGTATCCTTCCCGGCAC	0.577000														26			8		0	0	0.003080	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960801	73960801	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:73960801C>T	uc004eby.3	-	2	4208	c.3591G>A	c.(3589-3591)agG>agA	p.R1197R		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1197					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGATTTTTTCCTGGTGTTTT	0.428000														19			34		0	0	0.002445	0	0
DNHD1	144132	broad.mit.edu	37	11	6588704	6588704	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:6588704G>A	uc001mdw.4	+	35	12529	c.11965G>A	c.(11965-11967)Gaa>Aaa	p.E3989K	DNHD1_uc001mea.4_Missense_Mutation_p.E258K|DNHD1_uc001meb.3_Missense_Mutation_p.E257K|DNHD1_uc001mec.3_Missense_Mutation_p.E257K|DNHD1_uc010rao.2_Missense_Mutation_p.E247K|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	3989					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGCCTGGCATGAATGTGAGAT	0.602000														4			5		0	0	0.001168	0	0
CD84	8832	broad.mit.edu	37	1	160519762	160519762	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:160519762G>A	uc001fwh.4	-	6	996	c.917C>T	c.(916-918)cCc>cTc	p.P306L	CD84_uc001fwf.4_Missense_Mutation_p.P289L|CD84_uc009wtn.3_Silent_p.S256S|CD84_uc001fwi.4_Missense_Mutation_p.P175L|CD84_uc001fwg.4_Missense_Mutation_p.P300L	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	306					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TTCCTTGGAGGGAAGCACCTG	0.493000														16			23		0	0	0.004656	0	0
CILP2	148113	broad.mit.edu	37	19	19655896	19655896	+	Missense_Mutation	SNP	G	A	A	rs138043504		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:19655896G>A	uc002nmw.4	+	7	2645	c.2560G>A	c.(2560-2562)Gac>Aac	p.D854N	CILP2_uc002nmv.4_Missense_Mutation_p.D848N	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	848						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGTCGGACGGACCACGACGA	0.706000														7			21		0	0	0.001882	0	0
PRDM9	56979	broad.mit.edu	37	5	23522775	23522775	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:23522775C>T	uc003jgo.3	+	7	845	c.663C>T	c.(661-663)ccC>ccT	p.P221P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	221					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCCATGGGCCCCCTACATTTG	0.532000										HNSCC(3;0.000094)				21			17		0	0	0.006122	0	0
GUCY2D	3000	broad.mit.edu	37	17	7916452	7916452	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:7916452G>A	uc002gjt.2	+	10	2219	c.2145G>A	c.(2143-2145)agG>agA	p.R715R		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	715	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				AGCTGCTTAGGGACCCAGCCC	0.647000														4			13		0	0	0.002450	0	0
CLIP2	7461	broad.mit.edu	37	7	73790815	73790815	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:73790815A>T	uc003uam.3	+	9	2411	c.2084A>T	c.(2083-2085)gAg>gTg	p.E695V	CLIP2_uc003uan.3_Missense_Mutation_p.E660V|CLIP2_uc003uao.3_Missense_Mutation_p.E89V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	695						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCCCAGGAGGAGCTGGCTGGG	0.687000														10			4		0	0	0.000602	0	0
SGIP1	84251	broad.mit.edu	37	1	67147693	67147693	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:67147693C>T	uc001dcr.3	+	14	1173	c.956C>T	c.(955-957)tCc>tTc	p.S319F	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.S86F	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	319	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCTGATACATCCCCGGAACAT	0.512000														87			28		0	0	0.008361	0	0
HTR7	3363	broad.mit.edu	37	10	92509065	92509065	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:92509065G>A	uc001kha.3	-	1	1069	c.826C>T	c.(826-828)Cct>Tct	p.P276S	HTR7_uc001kgz.3_Missense_Mutation_p.P276S|HTR7_uc001khb.3_Missense_Mutation_p.P276S	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	276					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GGGAAGCCAGGAAACTTGTGT	0.512000														19			20		0	0	0.008871	0	0
C12orf50	160419	broad.mit.edu	37	12	88388520	88388520	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:88388520C>T	uc001tam.1	-	7	650	c.482_splice	c.e7-1	p.G161_splice	C12orf50_uc001tan.3_Splice_Site_p.G215_splice	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	161										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						AAGACTATCTCCTAGAAATAA	0.313000														28			7		0	0	0.001984	0	0
TANC2	26115	broad.mit.edu	37	17	61499168	61499168	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:61499168C>T	uc002jal.4	+	24	5848	c.5825C>T	c.(5824-5826)tCc>tTc	p.S1942F	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.S1053F	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1942							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGCCAGGCCTCCTCCTATCCC	0.592000														39			46		0	0	0.003610	0	0
CSMD1	64478	broad.mit.edu	37	8	2964163	2964163	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:2964163C>T	uc022aqr.1	-	46	7226	c.6836_splice	c.e46-1	p.G2279_splice	CSMD1_uc011kwj.2_Splice_Site_p.G1672_splice|CSMD1_uc010lrg.3_Splice_Site_p.G348_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2280	Sushi 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACAAAATCTCCTAGAAGAGT	0.458000														8			5		0	0	0.000602	0	0
DCDC2	51473	broad.mit.edu	37	6	24278393	24278393	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:24278393G>A	uc003ndx.3	-	6	1108	c.806C>T	c.(805-807)tCa>tTa	p.S269L	DCDC2_uc003ndy.3_Missense_Mutation_p.S269L	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	269					cellular defense response|intracellular signal transduction|neuron migration			p.N268>?(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CTGAGGAGATGAGTTGTCACT	0.358000														71			27		0	0	0.007291	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006401	16006401	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:16006401C>T	uc002nbs.1	-	2	308	c.258G>A	c.(256-258)caG>caA	p.Q86Q	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	86					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCTTAAAGCCCTGGGGGTAGG	0.562000														30			43		0	0	0.003610	0	0
SLC8A1	6546	broad.mit.edu	37	2	40655980	40655980	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:40655980C>T	uc002rrx.3	-	0	1465	c.1441G>A	c.(1441-1443)Gat>Aat	p.D481N	SLC8A1_uc002rry.3_Missense_Mutation_p.D481N|SLC8A1_uc002rsb.2_Missense_Mutation_p.D481N|SLC8A1_uc002rrz.3_Missense_Mutation_p.D481N|SLC8A1_uc002rsa.3_Missense_Mutation_p.D481N|SLC8A1_uc002rsd.4_Missense_Mutation_p.D481N|SLC8A1_uc010fan.1_Missense_Mutation_p.D481N|SLC8A1_uc002rsc.1_Missense_Mutation_p.D481N	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	481	Calx-beta 1.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ATATCATCATCTATGATACCC	0.418000														18			13		0	0	0.001368	0	0
GML	2765	broad.mit.edu	37	8	143927899	143927899	+	Silent	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:143927899A>G	uc003yxg.3	+	3	360	c.270A>G	c.(268-270)ccA>ccG	p.P90P		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	90	UPAR/Ly6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|apoptosis|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGAAGCCCCAGGAAAAATCT	0.378000														19			19		0	0	0.006122	0	0
HIPK2	28996	broad.mit.edu	37	7	139299045	139299045	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:139299045G>A	uc003vvf.4	-	7	2248	c.1977C>T	c.(1975-1977)ccC>ccT	p.P659P	HIPK2_uc003vvd.4_Silent_p.P632P	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	659	Interaction with SKI and SMAD1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGAAGCCGGGGGGACACACGA	0.612000														7			5		0	0	0.001168	0	0
DOPEY2	9980	broad.mit.edu	37	21	37602826	37602826	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:37602826C>T	uc002yvg.3	+	13	1823	c.1744C>T	c.(1744-1746)Ccc>Tcc	p.P582S	DOPEY2_uc011aeb.2_Missense_Mutation_p.P582S	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	582					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCTTCGTTTCCCCCTCTGAA	0.483000														39			15		0	0	0.003163	0	0
HYDIN	54768	broad.mit.edu	37	16	71127790	71127790	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:71127790G>A	uc002ezr.3	-	10	1527	c.1376C>T	c.(1375-1377)cCt>cTt	p.P459L	HYDIN_uc010cfz.2_Missense_Mutation_p.P204L|HYDIN_uc021tkq.1_Missense_Mutation_p.P459L|HYDIN_uc010vmc.2_Missense_Mutation_p.P476L|HYDIN_uc010vmd.2_Missense_Mutation_p.P486L|HYDIN_uc002ezw.4_Missense_Mutation_p.P476L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	459										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTGAATCTTAGGTCCCATGCC	0.423000														16			22		0	0	0.003330	0	0
TNR	7143	broad.mit.edu	37	1	175375931	175375931	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:175375931G>A	uc001gkp.1	-	1	1	c.-80_splice	c.e1-1		TNR_uc009wwu.1_Intron|TNR_uc010pmz.1_Intron	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.						axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGAAACCAAGGAAAGAGACAA	0.562000														12			5		0	0	0.000602	0	0
DENND2C	163259	broad.mit.edu	37	1	115130440	115130440	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:115130440G>A	uc001efd.1	-	18	3267	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Silent_p.S798S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	855	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGAGGTGTGGGACTTACGGA	0.478000														26			20		0	0	0.002780	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064434	78064434	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:78064434C>A	uc002ffh.4	+	2	371	c.290C>A	c.(289-291)tCc>tAc	p.S97Y	CLEC3A_uc021tlr.1_Missense_Mutation_p.S45Y	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	97	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GACTGCATTTCCAAAGGAGGA	0.473000														32			28		5.61819e-17	8.62444e-17	0.005443	1	0
COL4A4	1286	broad.mit.edu	37	2	227898170	227898170	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:227898170C>T	uc021vxr.1	-	36	3634	c.3533G>A	c.(3532-3534)gGc>gAc	p.G1178D	COL4A4_uc021vxs.1_Missense_Mutation_p.G1178D	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1178	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCATGCAAGCCGTTCAGGCC	0.517000											OREG0015250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		24			4		0	0	0.001168	0	0
SPEG	10290	broad.mit.edu	37	2	220347557	220347557	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:220347557T>G	uc010fwg.3	+	28	5617	c.5617T>G	c.(5617-5619)Tcc>Gcc	p.S1873A		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1873					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTATTCCTCTCCCGGCGGAG	0.587000														26			3		0	0	0.000248	0	0
HEPH	9843	broad.mit.edu	37	X	65392390	65392390	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:65392390C>T	uc011moz.2	+	2	660	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C	HEPH_uc004dwn.3_Missense_Mutation_p.R124C|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Missense_Mutation_p.R124C|HEPH_uc011mpa.2_Missense_Mutation_p.R124C	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	121	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTTTGCCACTCGTCCCTATAC	0.507000														26			39		0	0	0.007835	0	0
ACAN	176	broad.mit.edu	37	15	89399999	89399999	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:89399999C>T	uc010upo.1	+	11	4557	c.4183C>T	c.(4183-4185)Cct>Tct	p.P1395S	ACAN_uc010upp.1_Missense_Mutation_p.P1395S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1395					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGCGGGCTTCCTTCTGGAGA	0.547000														80			32		0	0	0.004878	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774369	89774369	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:89774369C>G	uc010rua.2	+	7	1339	c.1010C>G	c.(1009-1011)aCc>aGc	p.T337S		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	337	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						CAGACTTTCACCTCGGGCAAA	0.433000														14			17		0	0	0.008871	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457746	45457746	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:45457746G>A	uc001rol.3	-	0		c.1449C>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CTGTTGGCCTGGGGCAGTTCA	0.458000														36			12		0	0	0.004007	0	0
RP1	6101	broad.mit.edu	37	8	55538985	55538985	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:55538985G>A	uc003xsd.1	+	3	2691	c.2543G>A	c.(2542-2544)aGa>aAa	p.R848K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	848					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.L847F(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGTATTTGAGAGGAATGGCA	0.348000														20			13		0	0	0.001855	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302141	179302141	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:179302141G>A	uc003mlh.3	-	11	1982	c.1947C>T	c.(1945-1947)ttC>ttT	p.F649F	TBC1D9B_uc003mli.3_Silent_p.F649F|TBC1D9B_uc003mlj.3_Silent_p.F649F|TBC1D9B_uc011dgv.2_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	649	Rab-GAP TBC.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCGGCAGGAAGTCTCTCG	0.627000														14			27		0	0	0.008361	0	0
SLC17A4	10050	broad.mit.edu	37	6	25762227	25762227	+	Missense_Mutation	SNP	G	A	A	rs143424660	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:25762227G>A	uc003nfe.3	+	1	156	c.37G>A	c.(37-39)Gac>Aac	p.D13N	SLC17A4_uc011djx.2_Missense_Mutation_p.D13N|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.3_5'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	13					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.G12V(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TACAGTGGGGGACATTTCCAG	0.398000														52			19		0	0	0.001882	0	0
DNAH17	8632	broad.mit.edu	37	17	76497833	76497833	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:76497833G>A	uc010dhp.2	-	33	5438	c.5313C>T	c.(5311-5313)atC>atT	p.I1771I	AK127460_uc002jvt.1_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTTGGCCACGATCATTTTGG	0.612000														20			83		0	0	0.003610	0	0
MAP3K15	389840	broad.mit.edu	37	X	19507025	19507025	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:19507025C>T	uc022btq.1	-	1	422	c.422G>A	c.(421-423)gGa>gAa	p.G141E		NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	141							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTCTCGGACTCCAAGATGGTA	0.478000														23			38		0	0	0.006999	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433365	72433365	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:72433365C>T	uc004ebi.3	-	0	1346	c.964G>A	c.(964-966)Gga>Aga	p.G322R		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	322					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATCGCAGTTCCCCTATAGGGA	0.383000														34			50		0	0	0.003610	0	0
ABCA11P	79963	broad.mit.edu	37	4	437781	437781	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:437781G>A	uc003gaf.4	-	2	797	c.571C>T	c.(571-573)Cat>Tat	p.H191Y	ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.2_Intron|ABCA11P_uc003gae.3_Intron|ABCA11P_uc010ibd.2_Intron|ABCA11P_uc003gag.3_Missense_Mutation_p.H159Y|ABCA11P_uc010ibe.3_Missense_Mutation_p.H147Y	NM_133474	NP_597731			Homo sapiens zinc finger protein 721 (ZNF721), mRNA.																		TCTCCAGTATGAATTTTCTTG	0.393000														76			43		0	0	0.003610	0	0
NHLRC2	374354	broad.mit.edu	37	10	115636427	115636427	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:115636427C>T	uc001lax.2	+	2	720	c.479C>T	c.(478-480)tCc>tTc	p.S160F		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	160	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		CTAGAAGTTTCCTGCTGGCCA	0.393000														32			28		0	0	0.002445	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474517	84474517	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:84474517G>A	uc010chj.3	+	13	1353	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	ATP2C2_uc002fhx.3_Missense_Mutation_p.E422K|ATP2C2_uc002fhy.3_Missense_Mutation_p.E439K|ATP2C2_uc002fhz.3_Missense_Mutation_p.E271K	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	422					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACCATCCAAGGAAGTCATTAA	0.483000														41			7		0	0	0.000978	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815242	147815242	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:147815242C>T	uc003weu.2	+	15	2932	c.2416C>T	c.(2416-2418)Cca>Tca	p.P806S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	806	Laminin G-like 3.				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	p.P806P(1)		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)			TTTCCCAAACCCATCCTCCTA	0.438000										HNSCC(39;0.1)				67			61		0	0	0.003610	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322954	79322954	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:79322954G>A	uc010mpk.3	-	7	4360	c.4236C>T	c.(4234-4236)tcC>tcT	p.S1412S	PRUNE2_uc022bih.1_Silent_p.S1234S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1412					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCACATCACGGGAGTCTAGAT	0.448000														13			16		0	0	0.004990	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361510	70361510	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:70361510C>T	uc003hek.4	-	0	117	c.70G>A	c.(70-72)Gga>Aga	p.G24R	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.G24R	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	24					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGCACCTTTCCACAACTCCCA	0.458000														80			46		0	0	0.002522	0	0
BCL2	596	broad.mit.edu	37	18	60795907	60795907	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:60795907G>A	uc002lit.1	-	2	1164	c.671C>T	c.(670-672)gCc>gTc	p.A224V	BCL2_uc002liu.1_Missense_Mutation_p.A224V	NM_000633	NP_000624	P10415	BCL2_HUMAN	Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	224					B cell proliferation|B cell receptor signaling pathway|activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to DNA damage stimulus|response to cytokine stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	TCCCACCAGGGCCAAACTGAG	0.537000			T	IGH@	"""NHL, CLL"""									14			15		0	0	0.003163	0	0
NCAPG2	54892	broad.mit.edu	37	7	158486165	158486165	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:158486165G>A	uc011kwe.1	-	2	248	c.103C>T	c.(103-105)Cta>Tta	p.L35L	NCAPG2_uc003wnx.1_Silent_p.L35L|NCAPG2_uc003wnv.1_Silent_p.L35L|NCAPG2_uc003wnw.1_Non-coding_Transcript	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	35					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AATTCATTTAGGCTGAAAGGA	0.323000														34			7		0	0	0.004482	0	0
INHBC	3626	broad.mit.edu	37	12	57843354	57843354	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:57843354G>A	uc001snv.1	+	1	735	c.608G>A	c.(607-609)gGc>gAc	p.G203D		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	203					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GTACTTGAAGGCCAGGTAGCC	0.622000														22			23		0	0	0.001882	0	0
DNAJC21	134218	broad.mit.edu	37	5	34944982	34944982	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:34944982C>T	uc003jjb.3	+	7	1221	c.994C>T	c.(994-996)Cac>Tac	p.H332Y	DNAJC21_uc003jjc.3_Missense_Mutation_p.H332Y|DNAJC21_uc010iuu.1_Missense_Mutation_p.H216Y|DNAJC21_uc003jjd.3_5'Flank	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	332	Glu-rich.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			CATGAAGAATCACGAGAAGTC	0.408000														104			67		0	0	0.003610	0	0
KCNG2	26251	broad.mit.edu	37	18	77623910	77623910	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:77623910C>T	uc010xfl.2	+	0	243	c.243C>T	c.(241-243)atC>atT	p.I81I		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	81					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TCCGCGCCATCGTGGCGCTTT	0.716000														6			3		0	0	0.000248	0	0
KATNAL2	83473	broad.mit.edu	37	18	44584636	44584636	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:44584636C>T	uc002lco.3	+	3	341	c.147C>T	c.(145-147)ccC>ccT	p.P49P	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	121	LisH.					cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAAATCTTCCCAAGATCAATC	0.453000														26			9		0	0	0.004482	0	0
MYOF	26509	broad.mit.edu	37	10	95079655	95079655	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:95079655C>T	uc001kin.3	-	48	5695	c.5572G>A	c.(5572-5574)Gaa>Aaa	p.E1858K	MYOF_uc001kio.3_Missense_Mutation_p.E1845K|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1858					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGAGTTGTTCGGCTGGAAGG	0.423000														15			18		0	0	0.008871	0	0
OR6C1	390321	broad.mit.edu	37	12	55714423	55714423	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:55714423G>A	uc010spi.2	+	0	40	c.40G>A	c.(40-42)Gga>Aga	p.G14R		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TATTCTTCTGGGATTAACAGA	0.393000														22			18		0	0	0.001882	0	0
CERS6	253782	broad.mit.edu	37	2	169551552	169551552	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:169551552C>T	uc002uec.1	+	5	724	c.600C>T	c.(598-600)atC>atT	p.I200I	CERS6_uc002ueb.1_Silent_p.I200I	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	Homo sapiens ceramide synthase 6 (CERS6), transcript variant 2, mRNA.	200	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCACTGATATCAAAAGAAAGG	0.428000														26			17		0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179440027	179440027	+	Missense_Mutation	SNP	G	A	A	rs72646891	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179440027G>A	uc021vsy.1	-	274	63353	c.63128C>T	c.(63127-63129)gCg>gTg	p.A21043V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A14738V|TTN_uc021vta.1_Missense_Mutation_p.A14671V|TTN_uc021vtb.1_Missense_Mutation_p.A14546V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21970	Fibronectin type-III 52.						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)			ACTTCTCCCCGCGCTGTTCAC	0.498000														15			13		0	0	0.004007	0	0
CFB	629	broad.mit.edu	37	6	31896685	31896685	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31896685G>A	uc003nyf.3	+	2	697	c.433G>A	c.(433-435)Gat>Aat	p.D145N	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.D145N|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.D116N|CFB_uc011dor.2_Intron	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	159	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCTGTGTGTGATAATGGGGG	0.597000														213			73		0	0	0.003610	0	0
RP1L1	94137	broad.mit.edu	37	8	10469444	10469444	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:10469444G>A	uc003wtc.3	-	3	2393	c.2164C>T	c.(2164-2166)Ccc>Tcc	p.P722S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	722					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCGAGGAGGGAGGTCTCAGG	0.612000														10			5		0	0	0.000602	0	0
CEACAM16	388551	broad.mit.edu	37	19	45211155	45211155	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:45211155C>T	uc010xxd.2	+	5	1169	c.963C>T	c.(961-963)atC>atT	p.I321I		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	321										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCACGATGATCGTGCCCGTGC	0.652000														34			51		0	0	0.003610	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299846	107299846	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:107299846G>A	uc010rvp.2	-	7	1142	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	371							catalytic activity	p.K370T(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATCATCAGAGGGTCTCAAGAA	0.408000														16			27		0	0	0.006320	0	0
ARSA	410	broad.mit.edu	37	22	51065138	51065138	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:51065138G>A	uc003bna.4	-	3	739	c.477C>T	c.(475-477)ggC>ggT	p.G159G	ARSA_uc021wsd.1_Silent_p.G245G|ARSA_uc021wse.1_Silent_p.G245G|ARSA_uc021wsf.1_Silent_p.G245G|ARSA_uc003bmz.4_Silent_p.G243G|ARSA_uc010hbf.3_3'UTR	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	243						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	ATGGCCCGCGGCCTGAACGCT	0.622000														21			8		0	0	0.004482	0	0
ZNF28	7576	broad.mit.edu	37	19	53303922	53303922	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:53303922G>A	uc002qad.3	-	3	1333	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	ZNF28_uc002qac.3_Silent_p.F338F|ZNF28_uc010eqe.3_Silent_p.F338F|ZNF28_uc021uza.1_Silent_p.F339F	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G392C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTTGCGACTGAAAACTTTTT	0.383000														23			31		0	0	0.002445	0	0
CUL7	9820	broad.mit.edu	37	6	43013404	43013404	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:43013404G>A	uc003otq.3	-	13	3115	c.2783C>T	c.(2782-2784)tCt>tTt	p.S928F	CUL7_uc010jyg.3_Missense_Mutation_p.S207F|CUL7_uc011dvb.2_Missense_Mutation_p.S1012F|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	928	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCGGCTGGCAGAGGGCATCAC	0.612000														25			28		0	0	0.008361	0	0
SLC9A4	389015	broad.mit.edu	37	2	103149004	103149004	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:103149004C>T	uc002tbz.4	+	11	2711	c.2254C>T	c.(2254-2256)Cat>Tat	p.H752Y		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	752					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCTCTGTTTCATGCAGTGGA	0.532000														14			9		0	0	0.004482	0	0
SPDEF	25803	broad.mit.edu	37	6	34511830	34511830	+	Missense_Mutation	SNP	C	T	T	rs146713427	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:34511830C>T	uc003ojq.2	-	1	837	c.403G>A	c.(403-405)Gag>Aag	p.E135K	SPDEF_uc011dsq.2_Missense_Mutation_p.E135K	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	135	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CAGGCCGTCTCGATGTCCTTG	0.642000														30			18		0	0	0.001523	0	0
KRT72	140807	broad.mit.edu	37	12	52981534	52981534	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:52981534G>C	uc001sar.2	-	6	1277	c.1191C>G	c.(1189-1191)caC>caG	p.H397Q	KRT72_uc001saq.2_Missense_Mutation_p.H397Q|KRT72_uc010sns.1_Missense_Mutation_p.H355Q|KRT72_uc010snt.1_Missense_Mutation_p.H209Q	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	397	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCTTGGCCTGGTGCAGGGCGC	0.662000														42			10		0	0	0.000978	0	0
ENAM	10117	broad.mit.edu	37	4	71500187	71500188	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:71500187_71500188CC>TT	uc011caw.1	+	5	654_655	c.373_374CC>TT	c.(373-375)ccc>TTc	p.P125F		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	125					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACCCAGAAACCCAACCAGACT	0.530000														43			16		0	0	0.004672	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43654272	43654272	+	Silent	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:43654272C>A	uc001jan.3	+	2	1106	c.771C>A	c.(769-771)ctC>ctA	p.L257L	CSGALNACT2_uc001jam.1_Silent_p.L257L	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	257					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TTGGACCTCTCATGAAAGTGA	0.393000														42			8		0.000157383	0.000239826	0.003080	1	0
ARPP21	10777	broad.mit.edu	37	3	35781005	35781005	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:35781005C>T	uc011axy.2	+	15	2056	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	ARPP21_uc003cga.3_Missense_Mutation_p.S595F|ARPP21_uc003cgb.3_Missense_Mutation_p.S614F|ARPP21_uc003cgf.3_Missense_Mutation_p.S450F|ARPP21_uc003cgg.3_Missense_Mutation_p.S137F	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	614	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CCTCCCATCTCCCAGCAGGTC	0.612000														9			13		0	0	0.002450	0	0
GRIA2	2891	broad.mit.edu	37	4	158281184	158281185	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:158281184_158281185CC>AT	uc003ipm.4	+	12	2639_2640	c.2180_2181CC>AT	c.(2179-2181)tcc>tAT	p.S727Y	GRIA2_uc011cit.2_Missense_Mutation_p.S680Y|GRIA2_uc003ipl.4_Missense_Mutation_p.S727Y|GRIA2_uc003ipk.4_Missense_Mutation_p.S680Y|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Missense_Mutation_p.S37Y|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Missense_Mutation_p.S37Y|GRIA2_uc011ciy.1_Missense_Mutation_p.S37Y|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	727					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTGTTGGAGTCCACGATGAACG	0.515000														37			19		0	0	0.004672	0	0
OR6N1	128372	broad.mit.edu	37	1	158736023	158736023	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158736023C>T	uc010piq.2	-	0	450	c.450G>A	c.(448-450)ttG>ttA	p.L150L		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CCAAGCCTCCCAACCAACAGC	0.532000														6			9		0	0	0.004482	0	0
ZFHX3	463	broad.mit.edu	37	16	72828864	72828864	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:72828864G>A	uc002fck.3	-	8	8390	c.7717C>T	c.(7717-7719)Cct>Tct	p.P2573S	ZFHX3_uc002fcl.3_Missense_Mutation_p.P1659S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2573					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGCATGAAAGGCATATCCAGG	0.557000														37			11		0	0	0.001368	0	0
ZNF582	147948	broad.mit.edu	37	19	56895360	56895360	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56895360C>T	uc002qmy.3	-	4	1812	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	ZNF582_uc002qmz.1_Missense_Mutation_p.E476K	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ACATGTGTTTCTCTATTATGC	0.368000														24			40		0	0	0.002852	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94670745	94670745	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:94670745G>A	uc001dqj.4	-	6	938	c.569C>T	c.(568-570)tCc>tTc	p.S190F	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Missense_Mutation_p.S190F	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	190					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTAAAGGGGAAAAATTTCC	0.338000														15			8		0	0	0.004482	0	0
LOC649330	649330	broad.mit.edu	37	1	12907949	12907949	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:12907949G>A	uc010obf.2	-	1	420	c.194C>T	c.(193-195)gCt>gTt	p.A65V	LOC649330_uc009vno.2_Missense_Mutation_p.A65V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	65							nucleic acid binding|nucleotide binding										TGCTACAGCAGCCCGGGCATT	0.483000														64			15		0	0	0.004990	0	0
MTUS2	23281	broad.mit.edu	37	13	29855896	29855896	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:29855896G>A	uc001usl.4	+	3	2788	c.2730G>A	c.(2728-2730)aaG>aaA	p.K910K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	900	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGCCTTCTAAGGACACACCCA	0.537000														2			12		0	0	0.001855	0	0
CFB	629	broad.mit.edu	37	6	31901724	31901724	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31901724C>T	uc011dor.2	+	3	775	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	CFB_uc003nyc.2_Silent_p.I64I|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Missense_Mutation_p.P110S|CFB_uc003nye.4_Missense_Mutation_p.P233S|CFB_uc003nyf.3_Missense_Mutation_p.P233S|CFB_uc010jtk.3_Missense_Mutation_p.P101S|CFB_uc011doq.2_Missense_Mutation_p.P204S	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	240	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCCACCAATCCCACCCAGAA	0.597000														177			64		0	0	0.003610	0	0
FKBPL	63943	broad.mit.edu	37	6	32096561	32096562	+	Missense_Mutation	DNP	CC	AA	AA	rs147280001		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32096561_32096562CC>AA	uc003nzr.3	-	1	1266_1267	c.996_997GG>TT	c.(994-999)cagggg>caTTgg	p.332_333QG>HW	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.332_333QG>HW	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	332					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										TGGTTCTTCCCCTGAATGACCA	0.505000														762			11		0	0	0.004672	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274188	10274188	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:10274188C>T	uc010uym.2	-	2	391	c.81G>A	c.(79-81)gcG>gcA	p.A27A	GRIN2A_uc002czo.4_Silent_p.A27A|GRIN2A_uc002czr.4_Silent_p.A27A|GRIN2A_uc010buk.3_Silent_p.A27A	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	27					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACCCTTCTCCGCCGCCGCGC	0.682000														20			8		0	0	0.004482	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800315	28800315	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:28800315C>T	uc001bpy.3	+	5	1338	c.1103C>T	c.(1102-1104)aCc>aTc	p.T368I	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Missense_Mutation_p.T358I|PHACTR4_uc001bpx.3_Missense_Mutation_p.T342I	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	358	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCACGCACCCCTCCATTC	0.512000														69			52		0	0	0.003610	0	0
CYP4F8	11283	broad.mit.edu	37	19	15726592	15726592	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:15726592G>A	uc002nbi.3	+	1	229	c.165G>A	c.(163-165)cgG>cgA	p.R55R	CYP4F8_uc010xoi.1_Silent_p.R55R|CYP4F8_uc010xoj.2_Missense_Mutation_p.G17E	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	55					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CGCAGCCCCGGAAACAGAACT	0.642000														17			31		0	0	0.002836	0	0
TTN	7273	broad.mit.edu	37	2	179428764	179428764	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179428764C>T	uc021vsy.1	-	274	74616	c.74391G>A	c.(74389-74391)aaG>aaA	p.K24797K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K18492K|TTN_uc021vta.1_Silent_p.K18425K|TTN_uc021vtb.1_Silent_p.K18300K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25724	Fibronectin type-III 80.						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)			TGTCAAGTACCTTTACAGTGA	0.458000														73			18		0	0	0.006122	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110454288	110454288	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:110454288G>A	uc003yne.3	+	34	4361	c.4257G>A	c.(4255-4257)ggG>ggA	p.G1419G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1419	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.S1419S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTCTGTGGGGGACACAGTGG	0.413000										HNSCC(38;0.096)				18			28		0	0	0.002836	0	0
PSG8	440533	broad.mit.edu	37	19	43268068	43268068	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:43268068G>A	uc002ouo.2	-	2	528	c.430_splice	c.e2+1	p.L144_splice	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Splice_Site_p.L144_splice|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	144	Ig-like V-type.					extracellular region		p.L144L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				AATCACTCACGATATAAGGTG	0.498000														47			83		0	0	0.003610	0	0
WAPAL	23063	broad.mit.edu	37	10	88260189	88260189	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:88260189G>A	uc001kdn.3	-	3	949	c.940C>T	c.(940-942)Cga>Tga	p.R314*	WAPAL_uc001kdo.3_Nonsense_Mutation_p.R271*|WAPAL_uc009xsw.3_Nonsense_Mutation_p.R271*	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	271	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTTTCCAATCGATTTTTAAAA	0.363000														32			16		0	0	0.003163	0	0
MYH15	22989	broad.mit.edu	37	3	108229341	108229341	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:108229341G>A	uc003dxa.1	-	1	154	c.97C>T	c.(97-99)Ctc>Ttc	p.L33F		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	33	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTCTTCTGAGGAAGGCTGCG	0.463000														41			17		0	0	0.004007	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579891	44579891	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:44579891G>A	uc003tlb.3	-	1	161	c.105C>T	c.(103-105)ttC>ttT	p.F35F	NPC1L1_uc011kbw.2_Silent_p.F35F|NPC1L1_uc003tlc.3_Silent_p.F35F|NPC1L1_uc003tld.3_Silent_p.F35F	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	35					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATTCGTCATAGAAGGCGCAGT	0.597000														21			26		0	0	0.008361	0	0
PTPRH	5794	broad.mit.edu	37	19	55716733	55716733	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55716733C>T	uc002qjq.3	-	3	653	c.580G>A	c.(580-582)Gga>Aga	p.G194R	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.G201R	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	194	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTGTTGATTCCATTCTTTCCC	0.522000														26			31		0	0	0.002836	0	0
GPR98	84059	broad.mit.edu	37	5	90074720	90074720	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:90074720C>T	uc003kju.3	+	63	12984	c.12888C>T	c.(12886-12888)ggC>ggT	p.G4296G	GPR98_uc003kjt.3_Silent_p.G2002G|GPR98_uc003kjw.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4296					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGATTTTGGCCATGTGCGAC	0.458000														24			49		0	0	0.003610	0	0
SNX29	92017	broad.mit.edu	37	16	12223552	12223552	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:12223552C>T	uc002dby.4	+	12	1594	c.377C>T	c.(376-378)aCc>aTc	p.T126I	SNX29_uc010uyx.1_Missense_Mutation_p.T153I	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	126					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						GAGGTGGACACCTTGAAAAGG	0.602000														3			8		0	0	0.004482	0	0
ITSN1	6453	broad.mit.edu	37	21	35260578	35260578	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:35260578G>A	uc002yta.1	+	39	5408	c.5140G>A	c.(5140-5142)Gac>Aac	p.D1714N	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.D1709N|ITSN1_uc002ytj.2_Missense_Mutation_p.D1653N|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1714					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGTCCGCTTGGACCTGCAGTT	0.572000														12			5		0	0	0.000602	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660890	77660890	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:77660890G>A	uc011cbx.2	+	4	2517	c.1564G>A	c.(1564-1566)Gga>Aga	p.G522R	SHROOM3_uc011cbz.1_Missense_Mutation_p.G346R|SHROOM3_uc003hkf.1_Missense_Mutation_p.G397R|SHROOM3_uc003hkg.3_Missense_Mutation_p.G300R	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	522					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAACCAGAATGGATCTGGCAG	0.537000														55			27		0	0	0.002445	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596131	97596131	+	Silent	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:97596131T>G	uc003drx.3	+	0	313	c.249T>G	c.(247-249)gcT>gcG	p.A83A	CRYBG3_uc021xbn.1_Silent_p.A83A					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						ATACGTCCGCTGACAGCATGC	0.433000														17			10		0	0	0.006214	0	0
OR1L3	26735	broad.mit.edu	37	9	125437717	125437717	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:125437717C>T	uc011lzb.2	+	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						AGATGTATTTCTTCCTGGTTT	0.408000														36			64		0	0	0.003610	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332708	100332708	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:100332708G>A	uc021sxl.1	-	1		c.445C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		CATCTCTGCAggggtgggggt	0.622000														26			9		0	0	0.008291	0	0
AK302879	0	broad.mit.edu	37	15	76073342	76073342	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:76073342C>T	uc010umm.1	+	6	535	c.458C>T	c.(457-459)tCc>tTc	p.S153F	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		CTGCAATACTCCTTACAGCGT	0.552000														34			16		0	0	0.004007	0	0
OR1K1	392392	broad.mit.edu	37	9	125562644	125562644	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:125562644G>A	uc011lze.2	+	0	243	c.243G>A	c.(241-243)aaG>aaA	p.K81K		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						CTGTGCCCAAGATGTTGGCCA	0.577000														21			26		0	0	0.006320	0	0
TRIM71	131405	broad.mit.edu	37	3	32859511	32859511	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:32859511C>T	uc003cff.3	+	1	1	c.-62_splice	c.e1-1			NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCTCGTCCGCTCTctcctcc	0.617000														1			3		0	0	0.004672	0	0
MYF6	4618	broad.mit.edu	37	12	81101673	81101673	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:81101673G>A	uc001szf.2	+	0	266	c.175G>A	c.(175-177)Gag>Aag	p.E59K		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	59					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CAGCAGCGGAGAGGAACATGT	0.627000														41			11		0	0	0.008291	0	0
FLG	2312	broad.mit.edu	37	1	152284089	152284089	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152284089C>T	uc001ezu.1	-	2	3309	c.3273G>A	c.(3271-3273)caG>caA	p.Q1091Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1091	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCCCATCCTGTCCATGGC	0.572000									Ichthyosis					144			144		0	0	0.003610	0	0
RCAN2	10231	broad.mit.edu	37	2	174130904	174130904	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:174130904C>T	uc002uhz.3	+	19	2029	c.1829C>T	c.(1828-1830)tCc>tTc	p.S610F	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGCCAGGATTCCTACGCTGCT	0.517000														15			13		0	0	0.001855	0	0
ALOX5	240	broad.mit.edu	37	10	45907676	45907676	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:45907676G>A	uc001jce.3	+	3	568	c.469G>A	c.(469-471)Gat>Aat	p.D157N	ALOX5_uc009xmt.3_Missense_Mutation_p.D157N|ALOX5_uc010qfg.2_Missense_Mutation_p.D157N|ALOX5_uc021ppr.1_Missense_Mutation_p.D157N	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	157	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.D157N(2)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTTGAGCATCGATGCCAAATG	0.463000														42			17		0	0	0.008871	0	0
ADH1C	126	broad.mit.edu	37	4	100268973	100268973	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:100268973C>T	uc021xqi.1	-	1		c.134G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TTCTTTAACTCCCATAGCACA	0.403000														38			18		0	0	0.006122	0	0
TPO	7173	broad.mit.edu	37	2	1500508	1500508	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:1500508G>A	uc002qwr.3	+	12	2443	c.2357G>A	c.(2356-2358)gGa>gAa	p.G786E	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.G786E|TPO_uc002qwx.3_Missense_Mutation_p.G729E|TPO_uc002qwu.3_Missense_Mutation_p.G729E|TPO_uc010yio.2_Missense_Mutation_p.G613E|TPO_uc010yip.2_Missense_Mutation_p.G786E|TPO_uc002qwy.1_Missense_Mutation_p.G126E|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	786	Sushi.				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACCCAGGAAGGATGGGATTTC	0.507000														65			33		0	0	0.003755	0	0
CACNA1C	775	broad.mit.edu	37	12	2676850	2676850	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:2676850C>T	uc009zdu.1	+	12	2098	c.1785C>T	c.(1783-1785)gtC>gtT	p.V595V	CACNA1C_uc001qkc.2_Silent_p.V595V|CACNA1C_uc001qjz.2_Silent_p.V595V|CACNA1C_uc001qkd.2_Silent_p.V595V|CACNA1C_uc001qke.2_Silent_p.V595V|CACNA1C_uc001qkf.2_Silent_p.V595V|CACNA1C_uc009zdw.1_Silent_p.V595V|CACNA1C_uc001qkg.2_Silent_p.V595V|CACNA1C_uc001qkh.2_Silent_p.V595V|CACNA1C_uc001qkl.2_Silent_p.V595V|CACNA1C_uc001qkj.2_Silent_p.V595V|CACNA1C_uc001qkk.2_Silent_p.V595V|CACNA1C_uc001qkn.2_Silent_p.V595V|CACNA1C_uc001qkm.2_Silent_p.V595V|CACNA1C_uc001qko.2_Silent_p.V595V|CACNA1C_uc001qkp.2_Silent_p.V595V|CACNA1C_uc001qkq.2_Silent_p.V595V|CACNA1C_uc001qku.2_Silent_p.V595V|CACNA1C_uc001qkr.2_Silent_p.V595V|CACNA1C_uc001qks.2_Silent_p.V595V|CACNA1C_uc001qkt.2_Silent_p.V595V|CACNA1C_uc009zdv.1_Silent_p.V592V|CACNA1C_uc001qkb.2_Silent_p.V595V|CACNA1C_uc001qka.1_Silent_p.V130V|CACNA1C_uc001qki.1_Silent_p.V331V	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	595					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACTGCTTCGTCGTGTGTGGCG	0.592000														6			8		0	0	0.003080	0	0
DLGAP1	9229	broad.mit.edu	37	18	3729341	3729341	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:3729341G>A	uc002kmf.3	-	6	1912	c.1385C>T	c.(1384-1386)tCc>tTc	p.S462F	DLGAP1_uc010wyz.2_Missense_Mutation_p.S462F|DLGAP1_uc010dkn.3_Missense_Mutation_p.S160F|DLGAP1_uc002kme.2_Missense_Mutation_p.S160F|DLGAP1_uc010wyw.2_Missense_Mutation_p.S168F|DLGAP1_uc010wyx.2_Missense_Mutation_p.S174F|DLGAP1_uc010wyy.2_Missense_Mutation_p.S174F|DLGAP1_uc002kmg.3_Missense_Mutation_p.S160F|DLGAP1_uc002kmk.2_Missense_Mutation_p.S462F	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	462					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTCGCACACGGACTCGAACTG	0.632000														11			10		0	0	0.000978	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539014	27539014	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:27539014G>A	uc001its.2	-	0	2222	c.379C>T	c.(379-381)Cct>Tct	p.P127S						Homo sapiens leucine rich repeat containing 37, member A family pseudogene (LOC387646), non-coding RNA.																		GACTCTGGAGGAAGAGGTGGG	0.527000														46			14		0	0	0.002450	0	0
COL4A3	1285	broad.mit.edu	37	2	228131218	228131218	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:228131218G>A	uc002vom.2	+	21	1563	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	467	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAGTTGATGGGCCCAAAGGTT	0.433000														14			4		0	0	0.000248	0	0
NBPF1	55672	broad.mit.edu	37	1	16893772	16893772	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:16893772G>A	uc009vos.1	-	24	3629	c.2741C>T	c.(2740-2742)cCt>cTt	p.P914L	NBPF1_uc009vot.1_Missense_Mutation_p.P372L|NBPF1_uc001ayz.1_Missense_Mutation_p.P372L|NBPF1_uc010oce.1_Missense_Mutation_p.P643L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	914	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATAACCTGAAGGAGTTGAATA	0.483000														808			11		0	0	0.001368	0	0
DSPP	1834	broad.mit.edu	37	4	88533702	88533702	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:88533702G>A	uc003hqu.3	+	3	484	c.364G>A	c.(364-366)Gat>Aat	p.D122N		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	122					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ATATGGTCATGATGGAATACA	0.428000														13			11		0	0	0.008291	0	0
CFB	629	broad.mit.edu	37	6	31914153	31914153	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31914153T>G	uc003nyj.4	+	1	346	c.68T>G	c.(67-69)gTg>gGg	p.V23G	CFB_uc011dor.2_Missense_Mutation_p.V525G|CFB_uc011dos.1_Missense_Mutation_p.V23G|CFB_uc003nyi.2_Missense_Mutation_p.V23G	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	23					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TCTTCAGGTGTGACCACCACT	0.592000														269			64		0	0	0.003610	0	0
CACNA1H	8912	broad.mit.edu	37	16	1261966	1261966	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:1261966C>T	uc002cks.3	+	24	4835	c.4587C>T	c.(4585-4587)ccC>ccT	p.P1529P	CACNA1H_uc002ckt.3_Silent_p.P1529P|CACNA1H_uc002cku.3_Silent_p.P235P|CACNA1H_uc010brj.3_Silent_p.P235P|CACNA1H_uc002ckv.3_Silent_p.P235P	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1529					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACCACAACCCCTGGATGCTGC	0.647000														72			55		0	0	0.003610	0	0
STK31	56164	broad.mit.edu	37	7	23776582	23776582	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:23776582A>G	uc003sws.4	+	7	969	c.902A>G	c.(901-903)aAg>aGg	p.K301R	STK31_uc003swt.4_Missense_Mutation_p.K278R|STK31_uc011jze.2_Missense_Mutation_p.K301R|STK31_uc010kuq.3_Missense_Mutation_p.K278R	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	301							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAAAAAATTAAGCAGGACCAG	0.333000														32			6		0	0	0.003080	0	0
DENND5A	23258	broad.mit.edu	37	11	9202465	9202465	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:9202465A>G	uc001mhl.3	-	5	1561	c.1304T>C	c.(1303-1305)cTg>cCg	p.L435P	DENND5A_uc010rbw.2_Missense_Mutation_p.L435P|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	435										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAGCCTCTTCAGCTTGGAGGC	0.498000														30			48		0	0	0.003610	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179886931	179886931	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:179886931C>T	uc001gnq.3	+	9	1527	c.1309C>T	c.(1309-1311)Cgt>Tgt	p.R437C		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	437						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TTCTTCTTTTCGTAGTGTCCG	0.458000														56			13		0	0	0.001855	0	0
CD163L1	283316	broad.mit.edu	37	12	7551065	7551065	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:7551065C>T	uc010sge.2	-	6	1580	c.1554G>A	c.(1552-1554)agG>agA	p.R518R	CD163L1_uc001qsy.3_Silent_p.R508R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	508	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCTGCATTCCTTGTGCTCC	0.468000														24			30		0	0	0.002836	0	0
RBM44	375316	broad.mit.edu	37	2	238726718	238726718	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:238726718G>A	uc002vxi.4	+	2	1291	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	386							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CTCTGTTTTTGATGATTCGAT	0.403000														22			7		0	0	0.003080	0	0
LY6H	4062	broad.mit.edu	37	8	144239839	144239839	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:144239839A>T	uc003yxt.3	-	2	1112	c.365T>A	c.(364-366)tTt>tAt	p.F122Y	LY6H_uc011lka.2_Missense_Mutation_p.F84Y|LY6H_uc011lkb.2_Missense_Mutation_p.F105Y|LY6H_uc011lkc.2_Missense_Mutation_p.F105Y			O94772	LY6H_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA.	84					nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GTCTGAGAAAAAGTGTCGCTT	0.547000														55			26		0	0	0.007291	0	0
CSRNP3	80034	broad.mit.edu	37	2	166536033	166536033	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:166536033G>A	uc002udf.3	+	6	1904	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	CSRNP3_uc002udg.3_Missense_Mutation_p.D510N	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	510					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TTCCGAAAATGATAGCGGTGT	0.502000														17			18		0	0	0.008871	0	0
COL11A1	1301	broad.mit.edu	37	1	103481270	103481270	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:103481270C>T	uc001dum.3	-	11	1796	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.G481E|COL11A1_uc001dun.3_Missense_Mutation_p.G442E|COL11A1_uc009weh.3_Missense_Mutation_p.G365E	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	481	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P492Q(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCATCAGCCCCTGGTAAGCC	0.348000														10			4		0	0	0.000602	0	0
SLIT3	6586	broad.mit.edu	37	5	168114030	168114030	+	Missense_Mutation	SNP	C	T	T	rs148887706		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:168114030C>T	uc010jjg.3	-	29	3709	c.3289G>A	c.(3289-3291)Gtg>Atg	p.V1097M	SLIT3_uc003mab.3_Missense_Mutation_p.V1090M	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1090	EGF-like 5.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGTGTCCACGCACTGGGCC	0.622000														11			24		0	0	0.005443	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6349705	6349705	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:6349705C>T	uc003gja.3	-	5	682	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PPP2R2C_uc003gjb.3_Missense_Mutation_p.D203N|PPP2R2C_uc003gjc.3_Missense_Mutation_p.D220N|PPP2R2C_uc011bwd.2_Missense_Mutation_p.D213N|PPP2R2C_uc011bwe.2_Missense_Mutation_p.D213N|PPP2R2C_uc003gjd.1_Missense_Mutation_p.D308N	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	220					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCGTAAGGTCCTCCATGTTG	0.612000														36			31		0	0	0.006230	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349724	134349724	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:134349724G>A	uc003qem.1	-	1	1410	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	413						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	p.S413F(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TTCTGCTATGGGAAGAAATCC	0.453000														16			31		0	0	0.002445	0	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	T	T	rs121913254		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				62			58		2.18419e-29	3.36537e-29	0.003610	1	0
UNC45B	146862	broad.mit.edu	37	17	33479972	33479972	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:33479972G>A	uc002hja.3	+	4	539	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	UNC45B_uc002hjb.3_Missense_Mutation_p.E148K|UNC45B_uc002hjc.3_Missense_Mutation_p.E148K|UNC45B_uc010cto.3_Missense_Mutation_p.E148K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	148					cell differentiation|muscle organ development	cytosol	binding	p.D147Y(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CCTCTTGGATGAAAACAGTGA	0.572000														24			60		0	0	0.003610	0	0
OR1J4	26219	broad.mit.edu	37	9	125281530	125281530	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:125281530C>T	uc011lyw.2	+	0	111	c.111C>T	c.(109-111)atC>atT	p.I37I		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						TGTACCTGATCACGGTGCTGG	0.562000														40			54		0	0	0.003610	0	0
FSHR	2492	broad.mit.edu	37	2	49190007	49190007	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:49190007G>A	uc002rww.3	-	9	2063	c.1953C>T	c.(1951-1953)gcC>gcT	p.A651A	FSHR_uc010fbn.3_Silent_p.A625A|FSHR_uc002rwx.3_Silent_p.A589A	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	651					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TATAAATTTGGGCTTGCATTT	0.473000									Gonadal Dysgenesis, 46 XX					23			6		0	0	0.001984	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420282	55420282	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:55420282G>A	uc001sgp.4	+	1	437	c.59G>A	c.(58-60)tGg>tAg	p.W20*	NEUROD4_uc021qyr.1_Nonsense_Mutation_p.W20*	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	20					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						ACACCATCCTGGATGGATAAA	0.443000														23			9		0	0	0.008291	0	0
DNAH7	56171	broad.mit.edu	37	2	196740494	196740495	+	Missense_Mutation	DNP	CT	TC	TC			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:196740494_196740495CT>TC	uc002utj.4	-	37	6291_6292	c.6190_6191AG>GA	c.(6190-6192)aga>GAa	p.R2064E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2064	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAACCACTGTCTAAGTAACTCA	0.436000														25			11		0	0	0.004672	0	0
OR8B4	283162	broad.mit.edu	37	11	124293853	124293853	+	Silent	SNP	C	T	T	rs151274125		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:124293853C>T	uc010sak.2	-	0	915	c.915G>A	c.(913-915)aaG>aaA	p.K305K		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L304M(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGAGCACTCTCTTCAGGGTTT	0.423000														14			9		0	0	0.000978	0	0
SBK1	388228	broad.mit.edu	37	16	28331720	28331720	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:28331720C>T	uc002dpd.3	+	3	1542	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGGCAACTTCCCGTGGGAGG	0.736000														40			10		0	0	0.000978	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28327466	28327466	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:28327466C>T	uc010jrc.3	+	2	436	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	ZKSCAN3_uc003nle.4_Missense_Mutation_p.P35S|ZKSCAN3_uc003nlf.4_Intron	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	35					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P35P(1)		kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGCCGGTTTTCCCAGTAGCCC	0.607000														145			51		0	0	0.003610	0	0
STRA6	64220	broad.mit.edu	37	15	74481544	74481544	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:74481544G>A	uc002axj.3	-	11	1479	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	STRA6_uc002axi.3_Silent_p.S143S|STRA6_uc010ulh.2_Silent_p.S372S|STRA6_uc002axk.3_Silent_p.S334S|STRA6_uc002axl.3_Silent_p.S266S|STRA6_uc010bji.3_Silent_p.S334S|STRA6_uc021sqg.1_Silent_p.S349S|STRA6_uc002axm.3_Silent_p.S334S|STRA6_uc002axn.3_Silent_p.S325S|STRA6_uc010uli.2_Silent_p.S371S|STRA6_uc010bjj.1_Non-coding_Transcript	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	334					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CCAGCAGGTAGGAGACATCCG	0.637000														9			3		0	0	0.004672	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57870159	57870159	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:57870159G>A	uc001sod.3	-	10	1510	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	ARHGAP9_uc001sny.3_5'Flank|ARHGAP9_uc001snz.3_Silent_p.P184P|ARHGAP9_uc001soa.3_Silent_p.P38P|ARHGAP9_uc001sob.3_Silent_p.P368P|ARHGAP9_uc001soc.3_Silent_p.P368P|ARHGAP9_uc001soe.1_Silent_p.P447P	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	368					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGCCTGAGGAGGGCGCTGTCG	0.687000														19			11		0	0	0.001368	0	0
ISM2	145501	broad.mit.edu	37	14	77948869	77948869	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:77948869C>T	uc001xtz.3	-	3	843	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Missense_Mutation_p.E169K	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	257						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CTGTCTTTTTCCTCTCCTTTG	0.577000														18			40		0	0	0.005524	0	0
GPR27	2850	broad.mit.edu	37	3	71804275	71804275	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:71804275C>T	uc011bge.2	+	0	1075	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	359						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CTGCCAGAGCCCCCGGACCAC	0.642000														5			4		0	0	0.000248	0	0
OR8K1	390157	broad.mit.edu	37	11	56114057	56114057	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:56114057C>T	uc010rjg.2	+	0	543	c.543C>T	c.(541-543)agC>agT	p.S181S		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACATAATCAGCTATTTTTACT	0.358000										HNSCC(65;0.19)				21			31		0	0	0.002445	0	0
MUC4	4585	broad.mit.edu	37	3	195516076	195516076	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:195516076G>A	uc021xjp.1	-	1	2531	c.2375C>T	c.(2374-2376)tCc>tTc	p.S792F	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.S674F	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	797					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGACCCTGAGGAGGCCGGTTC	0.607000														36			31		0	0	0.002096	0	0
LHX5	64211	broad.mit.edu	37	12	113907000	113907000	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:113907000G>A	uc001tvj.1	-	1	898	c.324C>T	c.(322-324)atC>atT	p.I108I		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	108	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TGTTCTCGTCGATGACGTAGA	0.572000														18			11		0	0	0.001368	0	0
C7orf58	79974	broad.mit.edu	37	7	120740026	120740026	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:120740026G>A	uc003vjq.4	+	6	1243	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	C7orf58_uc003vjr.1_Missense_Mutation_p.E266K|C7orf58_uc003vjs.4_Missense_Mutation_p.E266K|C7orf58_uc003vjt.4_Missense_Mutation_p.E46K|C7orf58_uc010lkk.2_Missense_Mutation_p.E46K	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	266						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					CTTTCGAGCCGAAGATCTATC	0.408000														19			26		0	0	0.006320	0	0
AK302879	0	broad.mit.edu	37	15	76073154	76073154	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:76073154G>A	uc010umm.1	+	5	443	c.366G>A	c.(364-366)aaG>aaA	p.K122K	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		CATTGGAAAAGGCAGACTTGA	0.473000														110			22		0	0	0.004656	0	0
GNMT	27232	broad.mit.edu	37	6	42930850	42930850	+	Silent	SNP	G	A	A	rs149792195		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:42930850G>A	uc003otd.3	+	3	498	c.492G>A	c.(490-492)gcG>gcA	p.A164A	BC040637_uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	Homo sapiens glycine N-methyltransferase (GNMT), mRNA.	164					S-adenosylmethionine metabolic process|protein homotetramerization|protein modification process		folic acid binding|glycine N-methyltransferase activity|glycine binding			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	AAAACATTGCGAGCATGGTGC	0.592000														64			22		0	0	0.003954	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221029	67221029	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:67221029C>T	uc002erx.1	-	5	1294	c.1053G>A	c.(1051-1053)atG>atA	p.M351I	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Missense_Mutation_p.M2I|EXOC3L1_uc010vje.1_Missense_Mutation_p.M290I|EXOC3L1_uc002ery.1_Missense_Mutation_p.M295I	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	351	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCAGGCTCCCCATCATTTCCT	0.607000														38			6		0	0	0.001984	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478410	14478410	+	RNA	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:14478410C>G	uc010xai.2	-	2		c.1154G>C								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		ACGTACGGCTCTTTGGAGGCG	0.448000														3			3		0	0	0.000602	0	0
OBSCN	84033	broad.mit.edu	37	1	228505765	228505765	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:228505765G>A	uc009xez.1	+	52	14066	c.14022G>A	c.(14020-14022)caG>caA	p.Q4674Q	OBSCN_uc001hsn.3_Silent_p.Q4674Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4674	Ig-like 47.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGTCTCCCAGGGTCGGCAAC	0.637000														49			34		0	0	0.008740	0	0
PMEL	6490	broad.mit.edu	37	12	56350935	56350935	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:56350935G>A	uc001sir.3	-	5	1815	c.1152C>T	c.(1150-1152)gtC>gtT	p.V384V	PMEL_uc001siq.3_Silent_p.V384V|PMEL_uc010spx.2_Silent_p.V298V|PMEL_uc001sip.3_Silent_p.V384V	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	384	10 X 13 AA approximate tandem repeats, RPT domain.				melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGTACCCATGACCTCTGAAA	0.527000														54			14		0	0	0.003163	0	0
NOTCH4	4855	broad.mit.edu	37	6	32184932	32184932	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32184932G>T	uc003obb.3	-	9	1875	c.1736C>A	c.(1735-1737)cCa>cAa	p.P579Q	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P579Q	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	579	EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGTTTACCTGGGAGACACTT	0.612000														306			8		0.00307968	0.00468066	0.003080	1	0
TP63	8626	broad.mit.edu	37	3	189526122	189526122	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:189526122C>T	uc003fry.2	+	3	475	c.386C>T	c.(385-387)tCg>tTg	p.S129L	TP63_uc003frx.2_Missense_Mutation_p.S129L|TP63_uc003frz.2_Missense_Mutation_p.S129L|TP63_uc010hzc.1_Missense_Mutation_p.S129L|TP63_uc003fsa.2_Missense_Mutation_p.S35L|TP63_uc003fsb.2_Missense_Mutation_p.S35L|TP63_uc003fsc.2_Missense_Mutation_p.S35L|TP63_uc003fsd.2_Missense_Mutation_p.S35L|TP63_uc021xir.1_Missense_Mutation_p.S35L|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.S10L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	129			S -> L.		DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AACGGCTCCTCGTCCACCAGT	0.587000										HNSCC(45;0.13)				23			25		0	0	0.005443	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668504	176668504	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:176668504C>T	uc001gkz.3	+	7	4179	c.3015C>T	c.(3013-3015)atC>atT	p.I1005I	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1005					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTGTGACATCCCACTCACCA	0.512000														48			48		0	0	0.003610	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33535075	33535075	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:33535075C>T	uc003jia.1	-	22	4632	c.4469G>A	c.(4468-4470)gGc>gAc	p.G1490D	ADAMTS12_uc010iuq.1_Missense_Mutation_p.G1405D	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1490	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTTCTGAAAGCCACCTCCACA	0.493000										HNSCC(64;0.19)				22			5		0	0	0.000602	0	0
WNK2	65268	broad.mit.edu	37	9	96030984	96030984	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:96030984C>T	uc004ati.1	+	17	3989	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L	WNK2_uc011lud.1_Missense_Mutation_p.S1330L|WNK2_uc004atj.3_Missense_Mutation_p.S1330L|WNK2_uc004atk.3_Missense_Mutation_p.S967L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1330					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.S1316L(1)|p.S1330L(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGAATCTTCGCCCCCACTT	0.617000														6			11		0	0	0.003163	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135757223	135757223	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:135757223G>A	uc004fab.3	-	18	2440	c.1978C>T	c.(1978-1980)Ctt>Ttt	p.L660F	ARHGEF6_uc011mwd.2_Missense_Mutation_p.L533F|ARHGEF6_uc011mwe.2_Missense_Mutation_p.L506F	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	660					JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATCACTTTAAGGATTTGAGCA	0.423000														19			23		0	0	0.004656	0	0
ZNF257	113835	broad.mit.edu	37	19	22271407	22271407	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22271407C>T	uc010ecx.3	+	3	1024	c.855C>T	c.(853-855)ttC>ttT	p.F285F	ZNF257_uc010ecy.3_Silent_p.F253F	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAAGCCCTTCAAATATGATG	0.393000														3			11		0	0	0.008291	0	0
STAB2	55576	broad.mit.edu	37	12	104048356	104048356	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:104048356C>T	uc001tjw.3	+	12	1617	c.1431C>T	c.(1429-1431)ctC>ctT	p.L477L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	477	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTTAAACTCCATGGAGGCA	0.403000														15			17		0	0	0.004990	0	0
FAM171B	165215	broad.mit.edu	37	2	187627229	187627229	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:187627229C>T	uc002ups.3	+	7	2272	c.2160C>T	c.(2158-2160)ctC>ctT	p.L720L	FAM171B_uc002upr.1_Silent_p.L687L|FAM171B_uc002upt.3_Silent_p.L189L	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	720						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTAGAAAGCTCGAGAGGGAGA	0.458000														25			13		0	0	0.001368	0	0
SMOC1	64093	broad.mit.edu	37	14	70418998	70418998	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:70418998G>A	uc001xlt.2	+	1	525	c.243G>A	c.(241-243)gtG>gtA	p.V81V	SMOC1_uc001xls.2_Silent_p.V81V	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	81	Kazal-like.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CCCTGGGCGTGGTGCATCGAG	0.602000														14			24		0	0	0.005443	0	0
EDC4	23644	broad.mit.edu	37	16	67912701	67912701	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:67912701C>T	uc002eur.3	+	10	1485	c.1246C>T	c.(1246-1248)Ctc>Ttc	p.L416F	EDC4_uc010cer.3_Missense_Mutation_p.L35F|EDC4_uc010vkg.1_Missense_Mutation_p.L348F|EDC4_uc002eus.3_Missense_Mutation_p.L146F	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	416					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TTGCTTGGACCTCTCAGCAGA	0.547000														128			42		0	0	0.003610	0	0
NEFM	4741	broad.mit.edu	37	8	24772138	24772138	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:24772138G>A	uc003xed.4	+	0	865	c.832G>A	c.(832-834)Gaa>Aaa	p.E278K	NEFM_uc011lac.1_Missense_Mutation_p.E278K|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	278	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTCCCAGCTCGAAAGCCACTC	0.592000														16			9		0	0	0.006214	0	0
SPP2	6694	broad.mit.edu	37	2	234959463	234959463	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:234959463G>A	uc002vvk.1	+	0	118	c.33G>A	c.(31-33)atG>atA	p.M11I	SPP2_uc010fyl.1_5'UTR	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	11					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TGACGATGATGATGAAGATAT	0.443000														56			16		0	0	0.004990	0	0
KRT16	3868	broad.mit.edu	37	17	39768825	39768825	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:39768825G>A	uc002hxg.4	-	0	255	c.116C>T	c.(115-117)tCc>tTc	p.S39F	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.S39F	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	39	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GGCACGGCAGGACCCTCCGGC	0.721000														3			13		0	0	0.001855	0	0
SMCHD1	23347	broad.mit.edu	37	18	2700607	2700607	+	Silent	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:2700607T>C	uc002klm.4	+	10	1602	c.1413T>C	c.(1411-1413)atT>atC	p.I471I	SMCHD1_uc002klk.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	471					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAGGCCTATTTTTGAATGTT	0.303000														13			6		0	0	0.003080	0	0
KPNA2	3838	broad.mit.edu	37	17	66038420	66038421	+	Missense_Mutation	DNP	CC	AA	AA	rs149130880		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:66038420_66038421CC>AA	uc002jgk.3	+	4	654_655	c.522_523CC>AA	c.(520-525)ccccat>ccAAat	p.H175N	KPNA2_uc002jgl.3_Missense_Mutation_p.H175N	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	175	NLS binding site (major) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|M phase specific microtubule process|NLS-bearing substrate import into nucleus|interspecies interaction between organisms|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity	p.H175N(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGCATCTCCCCATGCTCACAT	0.455000														541			9		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179433511	179433511	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179433511C>T	uc021vsy.1	-	274	69869	c.69644G>A	c.(69643-69645)cGg>cAg	p.R23215Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16910Q|TTN_uc021vta.1_Missense_Mutation_p.R16843Q|TTN_uc021vtb.1_Missense_Mutation_p.R16718Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24142	Fibronectin type-III 68.						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)			TGCAAGGGACCGAGGATCACT	0.413000														21			14		0	0	0.004990	0	0
OR2M7	391196	broad.mit.edu	37	1	248487354	248487354	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248487354C>T	uc010pzk.2	-	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172L(1)|p.R172Q(1)|p.R172R(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGCTATTTCCCGAGACCCA	0.433000														87			91		0	0	0.003610	0	0
OR4D6	219983	broad.mit.edu	37	11	59224811	59224811	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:59224811C>T	uc010rku.2	+	0	378	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACCTTGCAATCGCCAAGCCCC	0.498000														33			66		0	0	0.003610	0	0
STRA6	64220	broad.mit.edu	37	15	74494575	74494575	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:74494575G>A	uc002axj.3	-	1	511	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	STRA6_uc010ulh.2_Missense_Mutation_p.P50S|STRA6_uc002axk.3_Missense_Mutation_p.P12S|STRA6_uc002axl.3_5'UTR|STRA6_uc010bji.3_Missense_Mutation_p.P12S|STRA6_uc021sqg.1_Missense_Mutation_p.P27S|STRA6_uc002axm.3_Missense_Mutation_p.P12S|STRA6_uc002axn.3_Missense_Mutation_p.P12S|STRA6_uc010uli.2_Missense_Mutation_p.P49S|STRA6_uc010bjj.1_Non-coding_Transcript|STRA6_uc010bjk.3_Missense_Mutation_p.P12S|HP11097_uc021sqh.1_5'Flank	NM_001199042	NP_001185971	Q9BX79	STRA6_HUMAN	Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA.	12					adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GTGGCCCCGGGGGAGGTCTGG	0.597000														33			13		0	0	0.004007	0	0
ZPBP	11055	broad.mit.edu	37	7	50121476	50121476	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:50121476G>A	uc003tou.3	-	2	298	c.228C>T	c.(226-228)ctC>ctT	p.L76L	ZPBP_uc010kyw.3_Silent_p.L76L	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	76					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCTTTTGATGGAGCATGACAT	0.358000														21			12		0	0	0.002450	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882776	228882776	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:228882776C>T	uc002vpq.2	-	6	2841	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E932K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E932K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	932	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding	p.E931K(1)|p.E931*(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGCTAATTCTTCCGCAAAG	0.478000														71			26		0	0	0.004656	0	0
TRA	0	broad.mit.edu	37	14	22192442	22192442	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:22192442G>A	uc021rpa.1	+	1	345	c.217G>A	c.(217-219)Gat>Aat	p.D73N	TRA_uc001wbn.2_Non-coding_Transcript|TRA_uc021rpb.1_Non-coding_Transcript					Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.																		CATCACAGGGGATAACCTGGT	0.463000														23			36		0	0	0.006230	0	0
LRRC20	55222	broad.mit.edu	37	10	72083683	72083683	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:72083683G>A	uc001jqx.1	-	3	558	c.336C>T	c.(334-336)ttC>ttT	p.F112F	LRRC20_uc001jqy.1_Intron|LRRC20_uc001jqz.1_Silent_p.F62F	NM_207119	NP_997002	Q8TCA0	LRC20_HUMAN	Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA.	112										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GCTGCTCAGGGAAGTCCTGGA	0.647000														44			10		0	0	0.001855	0	0
ZNF229	7772	broad.mit.edu	37	19	44936434	44936434	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:44936434G>A	uc002oze.1	-	4	635	c.201C>T	c.(199-201)ttC>ttT	p.F67F	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.F67F	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GTAGGTTCCTGAAATTCTCCT	0.483000														28			41		0	0	0.003214	0	0
SLC22A10	387775	broad.mit.edu	37	11	63057643	63057643	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:63057643C>T	uc009yor.3	+	0	214	c.6C>T	c.(4-6)gcC>gcT	p.A2A	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_5'Flank	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	2						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AATCAATGGCCTTTGAGGAGC	0.398000														12			13		0	0	0.002450	0	0
SYNE1	23345	broad.mit.edu	37	6	152725357	152725357	+	Silent	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:152725357T>C	uc021zhb.1	-	43	7039	c.6816A>G	c.(6814-6816)ccA>ccG	p.P2272P	SYNE1_uc003qot.4_Silent_p.P2279P|SYNE1_uc003qou.4_Silent_p.P2272P|SYNE1_uc010kjb.1_Silent_p.P2255P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2272					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.P2271Q(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCTGAAGGTCTGGCGGTGTTT	0.353000										HNSCC(10;0.0054)				22			29		0	0	0.007291	0	0
NLRP4	147945	broad.mit.edu	37	19	56388459	56388459	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56388459G>A	uc002qmd.4	+	7	3045	c.2623G>A	c.(2623-2625)Gaa>Aaa	p.E875K	NLRP4_uc002qmf.3_Missense_Mutation_p.E800K|NLRP4_uc010etf.3_Missense_Mutation_p.E650K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	875							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGGTGCAATGAAATCGGAGA	0.493000														34			46		0	0	0.003610	0	0
MME	4311	broad.mit.edu	37	3	154866386	154866386	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:154866386G>A	uc010hvr.1	+	15	1756	c.1545G>A	c.(1543-1545)ttG>ttA	p.L515L	MME_uc003fab.1_Silent_p.L515L|MME_uc003fac.1_Silent_p.L515L|MME_uc003fad.1_Silent_p.L515L|MME_uc003fae.1_Silent_p.L515L	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	515					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTCAAAATTTGAAATTCAGCC	0.328000														36			33		0	0	0.008740	0	0
XDH	7498	broad.mit.edu	37	2	31606010	31606010	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:31606010A>C	uc002rnv.1	-	10	974	c.895T>G	c.(895-897)Ttt>Gtt	p.F299V		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	299	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCAGCTCCAAAGGAGATACCT	0.522000														29			10		0	0	0.000978	0	0
MACF1	23499	broad.mit.edu	37	1	39800121	39800121	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:39800121C>T	uc021olw.1	+	0	3181	c.3181C>T	c.(3181-3183)Ccc>Tcc	p.P1061S	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2626					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTGTAGATCCCGAGAACTG	0.393000														24			24		0	0	0.004656	0	0
FAM189A2	9413	broad.mit.edu	37	9	71986421	71986421	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:71986421C>T	uc010mon.1	+	2	123	c.19C>T	c.(19-21)Ctc>Ttc	p.L7F	FAM189A2_uc004ahg.2_Missense_Mutation_p.L7F	NM_001127608	NP_004807	Q15884	F1892_HUMAN	Homo sapiens family with sequence similarity 189, member A2 (FAM189A2), transcript variant 2, mRNA.	7						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TCAGGTAAACCTCTTTGTGCT	0.433000														25			32		0	0	0.004289	0	0
KCTD8	386617	broad.mit.edu	37	4	44450305	44450305	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:44450305G>A	uc003gwu.3	-	0	520	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	79	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						gccgccACGGGGACTAGAGGG	0.647000										HNSCC(17;0.042)				8			9		0	0	0.006214	0	0
CRNN	49860	broad.mit.edu	37	1	152382337	152382337	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152382337C>T	uc001ezx.2	-	2	1295	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	407					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.G407W(1)		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)			CAGTGCTTGCCCCAGTCTGGG	0.612000														24			26		0	0	0.003954	0	0
LAMA2	3908	broad.mit.edu	37	6	129813560	129813560	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:129813560G>A	uc021zfb.1	+	57	8281	c.8176G>A	c.(8176-8178)Gaa>Aaa	p.E2726K	LAMA2_uc003qbn.3_Missense_Mutation_p.E2724K|LAMA2_uc003qbo.3_Missense_Mutation_p.E2720K|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2726					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCTCCAGCTGAAATAGTTAT	0.498000														20			32		0	0	0.002445	0	0
PRRC2B	84726	broad.mit.edu	37	9	134323085	134323085	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:134323085C>T	uc004can.4	+	7	1069	c.1014C>T	c.(1012-1014)cgC>cgT	p.R338R	PRRC2B_uc010mzj.1_5'UTR	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	338							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCCCACTCCGCCCACTAAGGC	0.507000														5			8		0	0	0.003080	0	0
GPR142	350383	broad.mit.edu	37	17	72363681	72363681	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:72363681C>T	uc021ucp.1	+	0	37	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	GPR142_uc010wqy.2_Nonsense_Mutation_p.Q13*	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	13						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GCAAAAGATCCAGTGGGTCCC	0.502000														20			74		0	0	0.003610	0	0
ATP13A5	344905	broad.mit.edu	37	3	193023395	193023395	+	Silent	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:193023395A>C	uc011bsq.2	-	22	2631	c.2631T>G	c.(2629-2631)ccT>ccG	p.P877P		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	877					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.P877P(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TAGAGGTAAAAGGGGATGCCA	0.468000														79			9		0	0	0.000978	0	0
BBS4	585	broad.mit.edu	37	15	73023677	73023677	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:73023677C>A	uc002avd.3	+	10	1105	c.767C>A	c.(766-768)aCc>aAc	p.T256N	BBS4_uc010ukv.2_Missense_Mutation_p.T236N|BBS4_uc002avb.3_Missense_Mutation_p.T248N|BBS4_uc002avc.3_Missense_Mutation_p.T76N|BBS4_uc010bja.3_Missense_Mutation_p.T4N	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	248	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						ATGATGCAGACCCACGGGGAC	0.488000									Bardet-Biedl syndrome					40			18		1.33834e-09	2.04476e-09	0.007413	1	0
GPR182	11318	broad.mit.edu	37	12	57389900	57389900	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:57389900G>A	uc021qzf.1	+	0	907	c.907G>A	c.(907-909)Gat>Aat	p.D303N	GPR182_uc001smk.3_Missense_Mutation_p.D303N	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	303						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTTCTATGATGTCATTGA	0.552000														78			132		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	107122309	107122309	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:107122309G>A	uc021ser.1	-	85		c.4009C>T								Parts of antibodies, mostly variable regions.																		GTAGTTAACGGAAGGTGAATC	0.552000														10			19		0	0	0.007413	0	0
TIPARP	25976	broad.mit.edu	37	3	156422824	156422824	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:156422824C>T	uc003fav.3	+	5	2300	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F	TIPARP_uc003faw.3_Silent_p.F626F|TIPARP_uc021xgg.1_Silent_p.F626F	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	626	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			tggataatttctttgagcctc	0.418000														25			7		0	0	0.001984	0	0
RSPO1	284654	broad.mit.edu	37	1	38079859	38079859	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:38079859G>A	uc001cbl.2	-	5	1325	c.433C>T	c.(433-435)Cct>Tct	p.P145S	RSPO1_uc009vvf.2_Missense_Mutation_p.P118S|RSPO1_uc001cbm.2_Missense_Mutation_p.P145S|RSPO1_uc009vvg.2_Missense_Mutation_p.P145S	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	145					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTTACCAGGACTACTGCAC	0.632000														7			9		0	0	0.004482	0	0
FOXC2	2303	broad.mit.edu	37	16	86602418	86602418	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:86602418C>T	uc002fjq.3	+	0	1562	c.1477C>T	c.(1477-1479)Ccc>Tcc	p.P493S		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	493					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCACGCAGCCCCCTACTCCTA	0.647000									Late-onset Hereditary Lymphedema					12			9		0	0	0.006214	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714955	92714955	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:92714955C>T	uc001pdk.1	+	1	669	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	189					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CGCATCTATTCCTGCACCTTC	0.607000														68			118		0	0	0.003610	0	0
BRD1	23774	broad.mit.edu	37	22	50181140	50181140	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:50181140G>A	uc011arg.2	-	7	2523	c.2509C>T	c.(2509-2511)Ctt>Ttt	p.L837F	BRD1_uc011arf.2_Missense_Mutation_p.L514F|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.L788F|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.L919F	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	788					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AACCTCGGAAGGACTACAGAC	0.552000														16			9		0	0	0.006214	0	0
VPS13C	54832	broad.mit.edu	37	15	62182392	62182392	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:62182392G>A	uc002agz.3	-	66	9404	c.9313C>T	c.(9313-9315)Cag>Tag	p.Q3105*	VPS13C_uc002aha.3_Nonsense_Mutation_p.Q3062*|VPS13C_uc002ahb.2_Nonsense_Mutation_p.Q3105*|VPS13C_uc002ahc.2_Nonsense_Mutation_p.Q3062*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3105					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAACTTCCTGCTTGCTTTCA	0.388000														25			8		0	0	0.004482	0	0
FUT9	10690	broad.mit.edu	37	6	96651183	96651183	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:96651183A>T	uc003pop.4	+	2	493	c.152A>T	c.(151-153)aAa>aTa	p.K51I	FUT9_uc021zcw.1_Missense_Mutation_p.K51I	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	51					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.K51fs(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGAAAATGAAAAACTTCTTT	0.428000														13			30		0	0	0.008361	0	0
USP9X	8239	broad.mit.edu	37	X	41069821	41069821	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:41069821C>T	uc004dfb.3	+	32	5708	c.5075C>T	c.(5074-5076)tCa>tTa	p.S1692L	USP9X_uc004dfc.3_Missense_Mutation_p.S1692L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1692					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTTTTAATTCATTGGTGGAT	0.363000														16			32		0	0	0.004289	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610066	47610066	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:47610066G>A	uc001cqv.1	+	6	879	c.828G>A	c.(826-828)aaG>aaA	p.K276K	CYP4A22_uc009vyo.3_Silent_p.K276K|CYP4A22_uc009vyp.3_Missense_Mutation_p.G225R	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	276			K -> T (in allele CYP4A22*8, allele CYP4A22*11, allele CYP4A22*14 and allele CYP4A22*15).			endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AACTACAGAAGGAGGGGGAGC	0.532000														52			25		0	0	0.003755	0	0
ALLC	55821	broad.mit.edu	37	2	3726102	3726102	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:3726102G>A	uc010ewt.3	+	3	290	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	62							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGGAGTTTGGGAAATGGATGG	0.463000										HNSCC(21;0.051)				26			9		0	0	0.006214	0	0
FBLN5	10516	broad.mit.edu	37	14	92343989	92343989	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:92343989C>G	uc010aue.3	-	10	1623	c.1150G>C	c.(1150-1152)Gac>Cac	p.D384H	FBLN5_uc010aud.3_Missense_Mutation_p.D348H|FBLN5_uc001xzx.4_Missense_Mutation_p.D343H|FBLN5_uc001xzw.3_5'Flank	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	343					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AAGGGCTGGTCTCTGCAGCCA	0.562000														25			35		0	0	0.005524	0	0
FCN2	2220	broad.mit.edu	37	9	137777198	137777198	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:137777198G>A	uc004cfg.1	+	4	425	c.415G>A	c.(415-417)Gga>Aga	p.G139R	FCN2_uc004cfh.1_Missense_Mutation_p.G101R	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	139	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGACACGGACGGAGGGGGCTG	0.657000														7			7		0	0	0.001984	0	0
SALL1	6299	broad.mit.edu	37	16	51174110	51174110	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:51174110G>A	uc021tif.1	-	1	2054	c.1732C>T	c.(1732-1734)Cct>Tct	p.P578S	SALL1_uc021tid.1_Missense_Mutation_p.P578S|SALL1_uc021tie.1_Missense_Mutation_p.P675S|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	675					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P577H(1)|p.P675S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCCCCAAAAGGAAACTTGGCC	0.582000														57			41		0	0	0.002222	0	0
IL2RA	3559	broad.mit.edu	37	10	6061872	6061872	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:6061872G>A	uc001iiz.2	-	4	835	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	IL2RA_uc009xih.2_Missense_Mutation_p.R134C|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	206					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTCTCAGGACGGCCTTCGGGG	0.597000														29			21		0	0	0.007291	0	0
OGDHL	55753	broad.mit.edu	37	10	50946054	50946054	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:50946054G>A	uc009xog.3	-	17	2571	c.2537C>T	c.(2536-2538)tCc>tTc	p.S846F	OGDHL_uc001jie.3_Missense_Mutation_p.S819F|OGDHL_uc010qgt.2_Missense_Mutation_p.S762F|OGDHL_uc010qgu.2_Missense_Mutation_p.S610F	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	819					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGCCGGTGTGGAGCAGTTGAC	0.627000														77			70		0	0	0.003610	0	0
FRG2B	441581	broad.mit.edu	37	10	135439024	135439024	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:135439024T>A	uc010qvg.2	-	3	469	c.416A>T	c.(415-417)gAg>gTg	p.E139V		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	139						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		ATCACAGGTCTCCTGGATTTC	0.522000														69			23		0	0	0.001882	0	0
C3	718	broad.mit.edu	37	19	6707832	6707832	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:6707832G>A	uc002mfm.3	-	14	2016	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	652					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCGGTCTGCTGGCCACTGCTG	0.662000														21			29		0	0	0.002096	0	0
LRP2	4036	broad.mit.edu	37	2	170076989	170076989	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:170076989C>T	uc002ues.3	-	33	5836	c.5623G>A	c.(5623-5625)Ggc>Agc	p.G1875S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1875					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			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)	ACAGTTATGCCAATTGGAAAG	0.418000														24			15		0	0	0.004990	0	0
PIWIL2	55124	broad.mit.edu	37	8	22168740	22168740	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:22168740C>T	uc003xbn.2	+	15	2064	c.1916C>T	c.(1915-1917)cCg>cTg	p.P639L	PIWIL2_uc011kzf.1_Missense_Mutation_p.P639L|PIWIL2_uc010ltv.2_Missense_Mutation_p.P639L	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	639					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		ATGAGCCCACCGGCCTGGGTT	0.453000														61			45		0	0	0.003610	0	0
SETBP1	26040	broad.mit.edu	37	18	42281456	42281456	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:42281456C>T	uc010dni.3	+	1	441	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	SETBP1_uc002lay.3_Missense_Mutation_p.P49S	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	49						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GAAGGGGATCCCGGTGGGCGG	0.627000									Schinzel-Giedion syndrome					11			5		0	0	0.000602	0	0
NELL1	4745	broad.mit.edu	37	11	20805242	20805242	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:20805242C>T	uc009yid.3	+	3	438	c.285C>T	c.(283-285)atC>atT	p.I95I	NELL1_uc010rdp.2_5'UTR|NELL1_uc001mqe.3_Silent_p.I67I|NELL1_uc001mqf.3_Silent_p.I67I|NELL1_uc010rdo.2_Silent_p.I67I	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	67	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAAGAGAGATCCATGCAGCTC	0.438000														12			15		0	0	0.006122	0	0
EVI5L	115704	broad.mit.edu	37	19	7912683	7912683	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:7912683C>T	uc010xjz.2	+	1	250	c.203C>T	c.(202-204)tCg>tTg	p.S68L	EVI5L_uc002min.3_Missense_Mutation_p.S68L	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	68						intracellular	Rab GTPase activator activity|protein binding			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						AGTGGCTCCTCGCTAGTGTCC	0.662000														9			8		0	0	0.003080	0	0
DPYS	1807	broad.mit.edu	37	8	105463515	105463515	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:105463515C>T	uc003yly.4	-	1	511	c.382G>A	c.(382-384)Gac>Aac	p.D128N		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	128					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCTGTAGTCGCAGCAAACT	0.517000														24			26		0	0	0.006320	0	0
CEP89	84902	broad.mit.edu	37	19	33417176	33417177	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:33417176_33417177CC>TT	uc002nty.3	-	10	1172_1173	c.1083_1084GG>AA	c.(1081-1086)ttggat>ttAAat	p.D362N	CEP89_uc002ntx.3_Missense_Mutation_p.D115N|CEP89_uc010edg.3_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	362						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TACTTTATATCCAACTGAAGAT	0.366000														53			72		0	0	0.004672	0	0
SCN1A	6323	broad.mit.edu	37	2	166901716	166901716	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:166901716C>T	uc002udo.4	-	11	1726	c.1499G>A	c.(1498-1500)cGg>cAg	p.R500Q	SCN1A_uc010fpk.3_Missense_Mutation_p.R500Q|SCN1A_uc021vsb.1_Missense_Mutation_p.R500Q	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	500						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R500Q(3)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTCTTCCTCCGATTTCTTCT	0.463000														63			61		0	0	0.003610	0	0
TUBB	203068	broad.mit.edu	37	6	30691565	30691565	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:30691565C>T	uc003nrl.3	+	3	853	c.726C>T	c.(724-726)ttC>ttT	p.F242F	TUBB_uc011dmq.2_Silent_p.F170F	NM_178014	NP_821133	P07437	TBB5_HUMAN	Homo sapiens tubulin, beta class I (TUBB), mRNA.	242					G2/M transition of mitotic cell cycle|cellular component movement|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	GCCTCCGTTTCCCTGGCCAGC	0.567000														81			37		0	0	0.005524	0	0
TAF5L	27097	broad.mit.edu	37	1	229738560	229738560	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:229738560A>C	uc001htq.3	-	3	520	c.354T>G	c.(352-354)agT>agG	p.S118R	TAF5L_uc001htr.3_Missense_Mutation_p.S118R	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	118					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GGCTGTAAAAACTTTCCACTG	0.478000														44			16		0	0	0.004990	0	0
EDAR	10913	broad.mit.edu	37	2	109546583	109546583	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:109546583G>A	uc010fjn.3	-	3	714	c.167C>T	c.(166-168)cCc>cTc	p.P56L	EDAR_uc010yws.2_Missense_Mutation_p.P56L|EDAR_uc002teq.4_Missense_Mutation_p.P56L	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	56					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TACCAGGTAGGGCTCCTCTCC	0.637000														9			16		0	0	0.004990	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870456	51870456	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:51870456G>A	uc002xwo.3	+	1	1346	c.459G>A	c.(457-459)agG>agA	p.R153R	TSHZ2_uc021wex.1_Silent_p.R150R	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	153					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GTGAGAGGAGGAACTGTGACA	0.522000														58			28		0	0	0.002445	0	0
XIRP1	165904	broad.mit.edu	37	3	39226013	39226013	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:39226013G>A	uc003cjk.2	-	1	5153	c.4924C>T	c.(4924-4926)Cct>Tct	p.P1642S	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.P325S|XIRP1_uc021wvz.1_Missense_Mutation_p.P1642S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1642							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGTGGAAGGGGCAGTTGAG	0.522000														19			20		0	0	0.001523	0	0
PTPRD	5789	broad.mit.edu	37	9	8341948	8341948	+	Silent	SNP	G	A	A	rs138863975		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:8341948G>A	uc003zkk.3	-	39	5435	c.4692C>T	c.(4690-4692)atC>atT	p.I1564I	PTPRD_uc003zkp.3_Silent_p.I1158I|PTPRD_uc003zkq.3_Silent_p.I1157I|PTPRD_uc003zkr.3_Silent_p.I1148I|PTPRD_uc003zks.3_Silent_p.I1157I|PTPRD_uc022bdj.1_Silent_p.I1154I	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1564	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I1564I(2)|p.I1035I(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CATCTATGACGATGAAGCAAC	0.353000										TSP Lung(15;0.13)				13			9		0	0	0.004482	0	0
SAMD7	344658	broad.mit.edu	37	3	169644396	169644396	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:169644396C>T	uc003fgd.3	+	5	613	c.346C>T	c.(346-348)Ccc>Tcc	p.P116S	SAMD7_uc003fge.3_Missense_Mutation_p.P116S|SAMD7_uc011bpo.2_Missense_Mutation_p.P17S	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	116										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAAAATTAATCCCAAGGGACT	0.468000														26			13		0	0	0.001368	0	0
MYH13	8735	broad.mit.edu	37	17	10235437	10235437	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:10235437C>T	uc002gmk.1	-	19	2367	c.2277G>A	c.(2275-2277)caG>caA	p.Q759Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	759	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGAACCTGAACTGCTCCCGGT	0.552000														11			16		0	0	0.004007	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635433	122635433	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:122635433C>T	uc003vkl.1	-	0	322	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	86					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTAAAAAATTCCCAGGTGATT	0.393000														22			7		0	0	0.001984	0	0
CHST14	113189	broad.mit.edu	37	15	40764480	40764480	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:40764480C>T	uc001zlw.3	+	0	1321	c.1068C>T	c.(1066-1068)atC>atT	p.I356I		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 (CHST14), mRNA.	356					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		CTAAGTATATCCTGGACTTCT	0.622000														43			16		0	0	0.004007	0	0
CEP128	145508	broad.mit.edu	37	14	81304583	81304583	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:81304583G>A	uc001xux.2	-	9	1060	c.889C>T	c.(889-891)Caa>Taa	p.Q297*	CEP128_uc010asz.2_5'Flank|CEP128_uc001xuz.2_Nonsense_Mutation_p.Q297*|CEP128_uc001xuy.1_Nonsense_Mutation_p.Q155*	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	297						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTTCTGATTGATTCAATAAC	0.333000														14			34		0	0	0.008740	0	0
RGS8	85397	broad.mit.edu	37	1	182617273	182617274	+	Splice_Site	DNP	TC	CT	CT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:182617273_182617274TC>CT	uc010pnw.1	-	6	618	c.360_splice	c.e6+1	p.E120_splice	RGS8_uc001gpn.1_Splice_Site_p.E120_splice|RGS8_uc001gpm.1_Splice_Site_p.E138_splice	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	120	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						CCAACACACCTCCCGTGGAGCC	0.525000														79			22		0	0	0.004672	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703829	7703829	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:7703829C>T	uc002cys.2	+	11	1758	c.770C>T	c.(769-771)cCg>cTg	p.P257L	RBFOX1_uc010buf.1_Missense_Mutation_p.P257L|RBFOX1_uc002cyr.1_Missense_Mutation_p.P256L|RBFOX1_uc002cyt.2_Missense_Mutation_p.P230L|RBFOX1_uc010uxz.1_Missense_Mutation_p.P300L|RBFOX1_uc010uya.1_Missense_Mutation_p.P214L|RBFOX1_uc002cyv.1_Missense_Mutation_p.P257L|RBFOX1_uc010uyb.1_Missense_Mutation_p.P257L|RBFOX1_uc002cyw.2_Missense_Mutation_p.P277L|RBFOX1_uc002cyy.2_Missense_Mutation_p.P277L|RBFOX1_uc002cyx.2_Missense_Mutation_p.P277L|RBFOX1_uc010uyc.1_Missense_Mutation_p.P250L	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	257					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCAGGCTTCCCGTATCCAGCA	0.701000														23			14		0	0	0.004007	0	0
TECRL	253017	broad.mit.edu	37	4	65147277	65147277	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:65147277C>T	uc003hcv.3	-	10	942	c.833_splice	c.e10-1	p.G278_splice	TECRL_uc010ihi.3_Splice_Site	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	278					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GGCATTGTTTCCTTTTTCAAA	0.338000														18			9		0	0	0.006214	0	0
DMBT1	1755	broad.mit.edu	37	10	124345750	124345750	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:124345750G>A	uc001lgk.1	+	15	1740	c.1634G>A	c.(1633-1635)gGa>gAa	p.G545E	DMBT1_uc001lgl.1_Missense_Mutation_p.G535E|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.G545E|DMBT1_uc021qag.1_Missense_Mutation_p.G535E|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G545E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	545	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGGCCCCAGGAAATGCCCGG	0.617000														90			83		0	0	0.003610	0	0
DNAH2	146754	broad.mit.edu	37	17	7680857	7680857	+	Missense_Mutation	SNP	C	T	T	rs140523857		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:7680857C>T	uc002giu.1	+	31	5166	c.5152C>T	c.(5152-5154)Cat>Tat	p.H1718Y		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1718	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.H1718Y(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATAGAAATTCATGCCCGGGA	0.488000														93			155		0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	41719784	41719784	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:41719784C>T	uc002yyq.1	-	5	1475	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	341	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTTCCTGGTCCTCAGTTCCTG	0.493000														61			21		0	0	0.001523	0	0
PTK2B	2185	broad.mit.edu	37	8	27308328	27308328	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:27308328G>A	uc003xfn.2	+	29	3211	c.2403G>A	c.(2401-2403)aaG>aaA	p.K801K	PTK2B_uc022ate.1_Silent_p.K801K|PTK2B_uc003xfp.2_Silent_p.K801K|PTK2B_uc003xfq.2_Silent_p.K759K|PTK2B_uc003xfs.1_5'UTR	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	801	Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGGCTGAAAAGGTCAAAATGC	0.577000														20			6		0	0	0.003080	0	0
USP37	57695	broad.mit.edu	37	2	219411703	219411703	+	Missense_Mutation	SNP	G	A	A	rs139468408		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219411703G>A	uc010fvs.1	-	6	954	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	USP37_uc002vie.2_Missense_Mutation_p.R181W|USP37_uc010zkf.1_Missense_Mutation_p.R181W|USP37_uc002vif.2_Missense_Mutation_p.R181W|USP37_uc002vig.2_Missense_Mutation_p.R109W|USP37_uc010zkg.2_Missense_Mutation_p.R181W	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	181					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGAATCGTCCGAGCTATTCCA	0.403000														59			17		0	0	0.007413	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278365	130278365	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:130278365G>A	uc001qgg.4	-	7	2451	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L	ADAMTS8_uc001qgf.3_Missense_Mutation_p.P179L	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	698	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCACTTGGTGGGGGTGAGGGA	0.567000														20			35		0	0	0.006230	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555961	155555961	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:155555961C>T	uc002tyv.1	+	0	869	c.674C>T	c.(673-675)tCc>tTc	p.S225F	KCNJ3_uc010zce.1_Missense_Mutation_p.S225F|KCNJ3_uc021vrh.1_Missense_Mutation_p.S225F	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	225					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CACATGGTCTCCGCGCAGATT	0.607000														5			7		0	0	0.003080	0	0
CREBBP	1387	broad.mit.edu	37	16	3820669	3820669	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:3820669G>A	uc002cvv.3	-	13	2986	c.2782C>T	c.(2782-2784)Ccg>Tcg	p.P928S	CREBBP_uc002cvw.3_Missense_Mutation_p.P890S	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	928					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.P928P(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGAGGCTGCGGGGTCACCTGG	0.672000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							48			57		0	0	0.003610	0	0
TUT1	64852	broad.mit.edu	37	11	62343574	62343574	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:62343574C>T	uc001nto.2	-	8	1769	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	539					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTGGAGATTCAGGGGGCCAA	0.627000														9			13		0	0	0.002450	0	0
FRMD1	79981	broad.mit.edu	37	6	168468049	168468049	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:168468049C>T	uc003qwo.4	-	2	447	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	FRMD1_uc003qwm.4_5'Flank|FRMD1_uc011egs.2_5'UTR|FRMD1_uc011egt.2_Missense_Mutation_p.E40K|FRMD1_uc003qwn.4_Missense_Mutation_p.E60K	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	128	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		ACACTTACTTCATTTCTTTCT	0.512000														19			33		0	0	0.003755	0	0
ZNF765	91661	broad.mit.edu	37	19	53911743	53911743	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:53911743C>T	uc010ydx.2	+	5	1262	c.935C>T	c.(934-936)tCa>tTa	p.S312L	ZNF765_uc002qbm.3_Missense_Mutation_p.S312L|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CATTTCAAATCAAAGCTTCAA	0.388000														4			9		0	0	0.004482	0	0
WNT10A	80326	broad.mit.edu	37	2	219745739	219745739	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219745739C>T	uc002vjd.1	+	0	485	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	8					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACCCTCGCCCCTGGCTGCG	0.736000														3			8		0	0	0.004482	0	0
LEPREL1	55214	broad.mit.edu	37	3	189702340	189702340	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:189702340G>A	uc011bsk.2	-	7	1617	c.1229_splice	c.e7+1	p.R410_splice	LEPREL1_uc003fsg.3_Splice_Site_p.R229_splice	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	410					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGACTTACCGATTCTCATCC	0.343000														68			19		0	0	0.001882	0	0
USP19	10869	broad.mit.edu	37	3	49148998	49148998	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:49148998A>C	uc003cwd.2	-	19	3162	c.2843T>G	c.(2842-2844)aTg>aGg	p.M948R	USP19_uc003cwa.3_Missense_Mutation_p.M756R|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.M1051R|USP19_uc011bcg.2_Missense_Mutation_p.M1039R|USP19_uc003cwc.2_Missense_Mutation_p.M706R|USP19_uc011bch.2_Missense_Mutation_p.M1049R	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	948					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACTGGCCAGCATCTCAGAAGA	0.632000														32			27		0	0	0.006320	0	0
CR1	1378	broad.mit.edu	37	1	207758068	207758068	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:207758068G>A	uc001hfy.3	+	24	4167	c.4027G>A	c.(4027-4029)Gga>Aga	p.G1343R	CR1_uc009xcl.1_Missense_Mutation_p.G893R|CR1_uc001hfx.3_Missense_Mutation_p.G1793R|CR1_uc021pij.1_Missense_Mutation_p.G1343R	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1343	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TATTCCCTATGGAAAAGAAAT	0.468000														54			47		0	0	0.003610	0	0
SLC22A20	440044	broad.mit.edu	37	11	64985149	64985149	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:64985149C>T	uc021qlg.1	+	2	662	c.629C>T	c.(628-630)tCc>tTc	p.S210F	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	208					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ATCCTCAACTCCGTCTCCCTG	0.652000														15			12		0	0	0.002450	0	0
C1orf129	80133	broad.mit.edu	37	1	170961428	170961428	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:170961428G>A	uc010plz.2	+	11	1306	c.1152G>A	c.(1150-1152)ggG>ggA	p.G384G	C1orf129_uc001ghg.3_Silent_p.G384G|C1orf129_uc009wvy.3_Silent_p.G191G	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	384							binding	p.E383K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAACGGAAGGGAAACGTTTCT	0.458000														44			24		0	0	0.006320	0	0
NOX1	27035	broad.mit.edu	37	X	100104846	100104846	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:100104846C>A	uc004egj.3	-	9	1417	c.1211G>T	c.(1210-1212)gGa>gTa	p.G404V	NOX1_uc004egl.4_Missense_Mutation_p.G404V|NOX1_uc010nne.3_Missense_Mutation_p.G367V	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	404	Interaction with NOXO1.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GACCCCAATTCCTGCTCCAAC	0.463000														5			21		8.10497e-08	1.23701e-07	0.001523	1	0
NLRP2	55655	broad.mit.edu	37	19	55493564	55493564	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55493564G>A	uc021vbq.1	+	5	609	c.498G>A	c.(496-498)acG>acA	p.T166T	NLRP2_uc010yfp.2_Silent_p.T143T|NLRP2_uc002qij.3_Silent_p.T166T|NLRP2_uc010esp.3_Silent_p.T144T|NLRP2_uc010esn.3_Silent_p.T142T|NLRP2_uc010eso.3_Silent_p.T163T	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	166					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TATTGAAGACGAAGTTCCGGG	0.473000														49			116		0	0	0.003610	0	0
C15orf55	256646	broad.mit.edu	37	15	34648565	34648565	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:34648565G>A	uc010ucc.2	+	7	2738	c.2356G>A	c.(2356-2358)Ggc>Agc	p.G786S	C15orf55_uc010ucd.2_Missense_Mutation_p.G776S|C15orf55_uc001zif.3_Missense_Mutation_p.G758S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	758						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GTATCAGGAAGGCTGCCAGGG	0.542000			T	"""BRD3, BRD4"""	lethal midline carcinoma									42			22		0	0	0.002299	0	0
ZNF682	91120	broad.mit.edu	37	19	20117929	20117929	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:20117929C>T	uc002noq.3	-	3	505	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K	ZNF682_uc002noo.3_Missense_Mutation_p.E96K|ZNF682_uc002nop.3_Missense_Mutation_p.E96K|ZNF682_uc010eck.3_Missense_Mutation_p.E52K	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTATAAATTTCTTTTTGATCC	0.328000														15			29		0	0	0.002836	0	0
OR5H15	403274	broad.mit.edu	37	3	97888212	97888212	+	Silent	SNP	C	T	T	rs62266806		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:97888212C>T	uc011bgu.2	+	0	669	c.669C>T	c.(667-669)ttC>ttT	p.F223F		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TTGTTCTCTTCACAGTCTTAG	0.363000														26			7		0	0	0.001984	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808114	48808114	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:48808114C>T	uc002rwp.2	+	1	456	c.342C>T	c.(340-342)ctC>ctT	p.L114L	STON1-GTF2A1L_uc021vhf.1_Silent_p.L114L|STON1-GTF2A1L_uc002rwo.4_Silent_p.L114L|STON1-GTF2A1L_uc010fbm.3_Silent_p.L114L|STON1-GTF2A1L_uc010yol.2_Silent_p.L114L	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	114					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGCCCACTCGCAATATCAG	0.473000														37			48		0	0	0.003610	0	0
ZNF750	79755	broad.mit.edu	37	17	80790281	80790281	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:80790281C>T	uc002kga.3	-	1	361	c.50G>A	c.(49-51)aGg>aAg	p.R17K	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	17						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCTGGAGGCCTGGGGATGTA	0.443000														88			36		0	0	0.002222	0	0
PTGIS	5740	broad.mit.edu	37	20	48166673	48166673	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:48166673G>A	uc002xut.3	-	1	182	c.128C>T	c.(127-129)gCc>gTc	p.A43V	PTGIS_uc010zyi.2_5'UTR	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	43					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	AAAGTCCAAGGCATACCCCAA	0.557000														30			27		0	0	0.004656	0	0
CACNA1G	8913	broad.mit.edu	37	17	48674270	48674270	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:48674270G>A	uc002irk.1	+	15	3616	c.3244G>A	c.(3244-3246)Gag>Aag	p.E1082K	CACNA1G_uc002iri.1_Missense_Mutation_p.E1082K|CACNA1G_uc002irj.1_Missense_Mutation_p.E1059K|CACNA1G_uc002irl.1_Missense_Mutation_p.E1059K|CACNA1G_uc002irm.1_Missense_Mutation_p.E1059K|CACNA1G_uc002irn.1_Missense_Mutation_p.E1059K|CACNA1G_uc002iro.1_Missense_Mutation_p.E1059K|CACNA1G_uc002irp.1_Missense_Mutation_p.E1082K|CACNA1G_uc002irq.1_Missense_Mutation_p.E1059K|CACNA1G_uc002irr.1_Missense_Mutation_p.E1082K|CACNA1G_uc002irs.1_Missense_Mutation_p.E1082K|CACNA1G_uc002irt.1_Missense_Mutation_p.E1082K|CACNA1G_uc002iru.1_Missense_Mutation_p.E1059K|CACNA1G_uc002irv.1_Missense_Mutation_p.E1082K|CACNA1G_uc002irw.1_Missense_Mutation_p.E1059K|CACNA1G_uc002irx.1_Missense_Mutation_p.E995K|CACNA1G_uc002iry.1_Missense_Mutation_p.E995K|CACNA1G_uc002isg.1_Missense_Mutation_p.E995K|CACNA1G_uc002ish.1_Missense_Mutation_p.E995K|CACNA1G_uc002isi.1_Missense_Mutation_p.E972K|CACNA1G_uc002irz.1_Missense_Mutation_p.E995K|CACNA1G_uc002isa.1_Missense_Mutation_p.E995K|CACNA1G_uc002isd.1_Missense_Mutation_p.E995K|CACNA1G_uc002isb.1_Missense_Mutation_p.E995K|CACNA1G_uc002isc.1_Missense_Mutation_p.E995K|CACNA1G_uc002ise.1_Missense_Mutation_p.E995K|CACNA1G_uc002isf.1_Missense_Mutation_p.E995K|CACNA1G_uc002isj.3_5'Flank	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1082					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCGGCCCACGAGATGAAGTC	0.682000														0			5		0	0	0.001168	0	0
C15orf2	23742	broad.mit.edu	37	15	24922328	24922328	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:24922328C>T	uc001ywo.3	+	0	1788	c.1314C>T	c.(1312-1314)atC>atT	p.I438I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	438	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.I438I(2)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GACCCCTCATCCTGCCTATCC	0.537000														22			18		0	0	0.007413	0	0
CEP68	23177	broad.mit.edu	37	2	65299154	65299155	+	Silent	DNP	AC	GT	GT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:65299154_65299155AC>GT	uc002sdl.4	+	2	1138_1139	c.924_925AC>GT	c.(922-927)ccactg>ccGTtg	p.308_309PL>PL	CEP68_uc002sdj.2_Silent_p.308_309PL>PL|CEP68_uc010yqb.1_Silent_p.308_309PL>PL|CEP68_uc002sdk.4_Silent_p.308_309PL>PL|CEP68_uc010yqc.2_Silent_p.308_309PL>PL|CEP68_uc010yqd.1_Silent_p.308_309PL>PL	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	308					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ATACTTACCCACTGAGGCCCGG	0.574000														35			46		0	0	0.004672	0	0
MYRIP	25924	broad.mit.edu	37	3	40085592	40085592	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:40085592G>A	uc003cka.3	+	2	297	c.162G>A	c.(160-162)tcG>tcA	p.S54S	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.S54S|MYRIP_uc010hhw.3_Missense_Mutation_p.R11Q|MYRIP_uc010hhx.1_Silent_p.S54S	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	54	RabBD.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCATCCTCTCGAAGCACCAGC	0.542000														7			9		0	0	0.006214	0	0
BIRC6	57448	broad.mit.edu	37	2	32710717	32710717	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:32710717T>A	uc010ezu.3	+	39	7838	c.7704T>A	c.(7702-7704)gaT>gaA	p.D2568E		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2568					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TAGCCCTGGATGCTCGCCTAG	0.378000														29			5		0	0	0.001984	0	0
TRIM15	89870	broad.mit.edu	37	6	30136161	30136161	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:30136161C>T	uc010jrx.3	+	2	1041	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	188					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATGTCTCCTGCTGGCCAGGCT	0.532000														45			19		0	0	0.002780	0	0
KCND2	3751	broad.mit.edu	37	7	119915766	119915766	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:119915766C>T	uc003vjj.1	+	0	2045	c.1080C>T	c.(1078-1080)gcC>gcT	p.A360A		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	360					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCCCTGCAGCCTTCTGGTATA	0.512000														71			13		0	0	0.001855	0	0
TMTC2	160335	broad.mit.edu	37	12	83359457	83359457	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:83359457C>T	uc001szt.3	+	5	2235	c.1803C>T	c.(1801-1803)caC>caT	p.H601H	TMTC2_uc001szr.1_Silent_p.H601H|TMTC2_uc001szs.1_Silent_p.H601H|TMTC2_uc010suk.2_Silent_p.H356H	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	601						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCATGCACACAAGAGCTCTG	0.473000														29			36		0	0	0.006999	0	0
ITPR2	3709	broad.mit.edu	37	12	26875362	26875362	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:26875362G>A	uc001rhg.3	-	4	910	c.493C>T	c.(493-495)Ccg>Tcg	p.P165S	ITPR2_uc001rhh.1_Missense_Mutation_p.P103S|ITPR2_uc001rhi.1_Missense_Mutation_p.P165S	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	165	MIR 1.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.P165Q(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTCCAGAACGGATGAATATAA	0.383000														63			20		0	0	0.001882	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110510714	110510714	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:110510714C>A	uc003yne.3	+	65	10727	c.10623C>A	c.(10621-10623)agC>agA	p.S3541R		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3541					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGAAGTAGCCCTGGGTTTA	0.408000										HNSCC(38;0.096)				25			19		6.49762e-13	9.96393e-13	0.006122	1	0
LRP1B	53353	broad.mit.edu	37	2	141641523	141641523	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:141641523C>T	uc002tvj.1	-	24	5004	c.4032G>A	c.(4030-4032)tgG>tgA	p.W1344*	LRP1B_uc010fnl.1_Nonsense_Mutation_p.W526*	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1344					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTGCTATCCAGTCGACTG	0.488000										TSP Lung(27;0.18)				58			39		0	0	0.002522	0	0
C7orf42	55069	broad.mit.edu	37	7	66410097	66410097	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:66410097C>T	uc003tvk.3	+	2	558	c.294C>T	c.(292-294)acC>acT	p.T98T	C7orf42_uc010lah.3_Non-coding_Transcript	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	98						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						GAGCTTCCACCCAGTCCCCCC	0.567000														22			36		0	0	0.005524	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590794	141590794	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:141590794C>T	uc010ioj.3	-	7	1703	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	477						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCACCAATTTCGGGTTGAACT	0.463000														13			10		0	0	0.008291	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045570	142045570	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:142045570G>A	uc003vxp.4	+	1	207	c.98G>A	c.(97-99)gGa>gAa	p.G33E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV4-2_uc022anc.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGGTCATGGGAATGACAAAT	0.488000														32			57		0	0	0.003610	0	0
CCDC108	255101	broad.mit.edu	37	2	219888010	219888010	+	Silent	SNP	G	A	A	rs144661790		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219888010G>A	uc002vjl.1	-	15	2823	c.2739C>T	c.(2737-2739)ttC>ttT	p.F913F		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	913	MSP.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCTCCACTCGAACTGCAGGG	0.627000														28			4		0	0	0.000248	0	0
DGKD	8527	broad.mit.edu	37	2	234367001	234367001	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:234367001C>T	uc002vui.1	+	21	2664	c.2652C>T	c.(2650-2652)gcC>gcT	p.A884A	DGKD_uc002vuj.1_Silent_p.A840A|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	884					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGCAGATGGCCGTCTCTCGAG	0.582000														11			12		0	0	0.003163	0	0
LILRB1	10859	broad.mit.edu	37	19	55143946	55143946	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:55143946G>A	uc002qgj.3	+	6	1033	c.693G>A	c.(691-693)caG>caA	p.Q231Q	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.Q231Q|LILRB1_uc002qgk.3_Silent_p.Q231Q|LILRB1_uc002qgm.3_Silent_p.Q231Q|LILRB1_uc010erq.3_Silent_p.Q231Q|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	231	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCTCAGTGCAGCCAGGTCCTA	0.547000										HNSCC(37;0.09)				18			39		0	0	0.002852	0	0
RUSC2	9853	broad.mit.edu	37	9	35555368	35555369	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:35555368_35555369CC>TT	uc003zww.3	+	2	2581_2582	c.2326_2327CC>TT	c.(2326-2328)ccc>TTc	p.P776F	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.P776F	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	776						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCGGCCATCGCCCCTGGGCAGC	0.663000														32			34		0	0	0.004672	0	0
DNAH8	1769	broad.mit.edu	37	6	38980372	38980372	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:38980372G>A	uc021yzh.1	+	90	13782	c.13673G>A	c.(13672-13674)aGg>aAg	p.R4558K	DNAH8_uc003ooe.2_Missense_Mutation_p.R4341K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGAAGGGAGGCCTAATGTG	0.423000														172			61		0	0	0.003610	0	0
KRT83	3889	broad.mit.edu	37	12	52714792	52714792	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:52714792C>T	uc001saf.2	-	0	391	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	110	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTTCTCCTCCTGCTTCACG	0.602000														70			51		0	0	0.003610	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172122	207172122	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:207172122G>A	uc002vbp.2	+	4	3120	c.2870G>A	c.(2869-2871)aGt>aAt	p.S957N		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	957							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTGAAACAAGTTTGGATTCT	0.388000														26			9		0	0	0.004482	0	0
SLC16A9	220963	broad.mit.edu	37	10	61432607	61432607	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:61432607G>A	uc010qig.1	-	2	710	c.261C>T	c.(259-261)ttC>ttT	p.F87F		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	Homo sapiens solute carrier family 16, member 9 (monocarboxylic acid transporter 9) (SLC16A9), mRNA.	87					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CAGCCACCATGAAGCCACTGA	0.418000														16			5		0	0	0.000602	0	0
PLEKHN1	84069	broad.mit.edu	37	1	908910	908910	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:908910G>A	uc001ace.3	+	11	1515	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	PLEKHN1_uc001acd.3_Missense_Mutation_p.D442N|PLEKHN1_uc001acf.3_Missense_Mutation_p.D407N	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	494										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GAGCAGCCCAGATGCCCCTGA	0.627000														32			39		0	0	0.002222	0	0
LRFN2	57497	broad.mit.edu	37	6	40400092	40400092	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:40400092C>T	uc003oph.1	-	1	1226	c.761G>A	c.(760-762)cGg>cAg	p.R254Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	254	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCGAGCCTCCGCAGCCAGAG	0.592000														47			11		0	0	0.002450	0	0
TNXB	7148	broad.mit.edu	37	6	32038123	32038123	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32038123G>A	uc003nzl.2	-	13	5261	c.5059C>T	c.(5059-5061)Cca>Tca	p.P1687S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1769	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGTGAGTCTGGGGTGGGGTCT	0.612000														188			81		0	0	0.003610	0	0
SSFA2	6744	broad.mit.edu	37	2	182784145	182784145	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:182784145C>T	uc002uoi.3	+	13	3438	c.3116C>T	c.(3115-3117)cCt>cTt	p.P1039L	SSFA2_uc002uoh.3_Missense_Mutation_p.P1039L|SSFA2_uc002uoj.3_Missense_Mutation_p.P1039L|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.P886L|SSFA2_uc002uol.3_Missense_Mutation_p.P886L|SSFA2_uc002uom.3_Missense_Mutation_p.P507L	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	1039						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTGCGCATGCCTTCACCCTTC	0.532000														66			54		0	0	0.003610	0	0
A2M	2	broad.mit.edu	37	12	9265965	9265965	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:9265965G>A	uc001qvk.1	-	1	374	c.261C>T	c.(259-261)gtC>gtT	p.V87V	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	87					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGCGAAGGCGACACAGTGGA	0.488000														14			26		0	0	0.005443	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55021697	55021697	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:55021697G>A	uc002lgn.3	+	1	601	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	82					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		TCTCACCCAGGAACTCCAAGA	0.448000														29			20		0	0	0.008871	0	0
SLC9C1	285335	broad.mit.edu	37	3	111993777	111993777	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:111993777G>A	uc003dyu.3	-	5	802	c.580C>T	c.(580-582)Caa>Taa	p.Q194*	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Nonsense_Mutation_p.Q194*	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	194					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TGTAGTCTTTGGTCAAAATCC	0.299000														29			8		0	0	0.004482	0	0
GPR112	139378	broad.mit.edu	37	X	135428725	135428725	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:135428725C>T	uc004ezu.1	+	5	3151	c.2860C>T	c.(2860-2862)Ccc>Tcc	p.P954S	GPR112_uc010nsb.1_Missense_Mutation_p.P749S|GPR112_uc010nsc.1_Missense_Mutation_p.P721S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	954					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P954P(1)		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)					AGCTGGATCTCCCACTTCTGG	0.443000														39			82		0	0	0.003610	0	0
UGT1A1	54658	broad.mit.edu	37	2	234591073	234591073	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:234591073C>T	uc002vut.3	+	0	490	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.P164S	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	167					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)	TTTCTCCCTCCCCTCTGTGGT	0.448000														90			41		0	0	0.003610	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607460	31607460	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:31607460C>T	uc002wyj.3	+	10	1178	c.984C>T	c.(982-984)ctC>ctT	p.L328L		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	328						extracellular region	lipid binding										TGGCCATGCTCCACACAAACA	0.662000														25			13		0	0	0.002450	0	0
KYNU	8942	broad.mit.edu	37	2	143713832	143713832	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:143713832C>T	uc010fnm.3	+	6	712	c.496C>T	c.(496-498)Cct>Tct	p.P166S	KYNU_uc002tvk.3_Missense_Mutation_p.P166S|KYNU_uc002tvl.3_Missense_Mutation_p.P166S	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	166	Pyridoxal phosphate binding.				NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.P166L(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CAAAGCCTTCCCTTCTGATCA	0.338000														23			5		0	0	0.001168	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142322	55142322	+	Missense_Mutation	SNP	G	A	A	rs35417906		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:55142322G>A	uc003pcl.3	+	4	1222	c.907G>A	c.(907-909)Gcc>Acc	p.A303T	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	303					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGGAAAACAGCCCGGATGTT	0.468000														37			17		0	0	0.006122	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725897	168725897	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:168725897C>T	uc021vsc.1	+	0	348	c.348C>T	c.(346-348)ttC>ttT	p.F116F	B3GALT1_uc002udz.1_Silent_p.F116F	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	116					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCACCCTGTTCCTCCTGGGCA	0.488000														30			8		0	0	0.004482	0	0
SLIT1	6585	broad.mit.edu	37	10	98764533	98764533	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:98764533G>A	uc001kmw.2	-	32	3879	c.3627C>T	c.(3625-3627)aaC>aaT	p.N1209N		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1209	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAATGTGGTCGTTGTCCCCGT	0.592000														48			5		0	0	0.000602	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48746165	48746165	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:48746165G>A	uc002xvf.3	-	3	557	c.396C>T	c.(394-396)ttC>ttT	p.F132F	TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvg.2_Silent_p.F132F|TMEM189-UBE2V1_uc010gif.2_Silent_p.F129F|TMEM189-UBE2V1_uc010zyp.1_Silent_p.F57F	NM_199203	NP_954673	A5PLL7	TM189_HUMAN	Homo sapiens TMEM189-UBE2V1 readthrough (TMEM189-UBE2V1), mRNA.	132						endoplasmic reticulum membrane|integral to membrane		p.D131N(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			TGGTCTCGATGAAGTCGTGCC	0.597000														49			28		0	0	0.005443	0	0
MCM10	55388	broad.mit.edu	37	10	13217570	13217570	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:13217570C>T	uc001ima.3	+	5	784	c.656C>T	c.(655-657)tCt>tTt	p.S219F	MCM10_uc001imb.3_Missense_Mutation_p.S218F|MCM10_uc001imc.3_Missense_Mutation_p.S218F	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	219					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CAGACGATTTCTCGGAACAAA	0.468000														48			16		0	0	0.004990	0	0
FUT3	2525	broad.mit.edu	37	19	5843768	5843768	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:5843768G>A	uc002mdk.2	-	1	1180	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	FUT3_uc002mdm.2_Silent_p.T361T|FUT3_uc002mdj.2_Silent_p.T361T|FUT3_uc002mdl.2_Silent_p.T361T|FUT3_uc021unn.1_Silent_p.T361T	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	361					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CGGCCTCTCAGGTGAACCAAG	0.622000														15			28		0	0	0.008361	0	0
GPRC6A	222545	broad.mit.edu	37	6	117113321	117113321	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:117113321C>T	uc003pxj.1	-	5	2787	c.2765G>A	c.(2764-2766)aGa>aAa	p.R922K	GPRC6A_uc003pxk.1_Missense_Mutation_p.R747K|GPRC6A_uc003pxl.1_Missense_Mutation_p.R851K	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	922					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ACTTGACATTCTTTTTCGAGG	0.383000														29			48		0	0	0.003610	0	0
ZHX1	11244	broad.mit.edu	37	8	124267562	124267562	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:124267562C>T	uc003yqe.3	-	2	1235	c.625G>A	c.(625-627)Gag>Aag	p.E209K	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.E209K|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.E209K|ZHX1_uc022bak.1_Missense_Mutation_p.E209K	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	209					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCTCTTTCTCTTCAGGAACG	0.328000														43			32		0	0	0.002445	0	0
OR56B4	196335	broad.mit.edu	37	11	6129686	6129686	+	Silent	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:6129686A>G	uc010qzx.2	+	0	678	c.678A>G	c.(676-678)gtA>gtG	p.V226V		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTATGCTGTAATCCTTCACT	0.473000														24			36		0	0	0.004289	0	0
ZNF423	23090	broad.mit.edu	37	16	49671455	49671455	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:49671455G>A	uc002efs.3	-	4	1906	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	ZNF423_uc010vgn.2_Silent_p.I419I	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	536					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGGCCTGCTGGATGTGCTCGG	0.582000														24			22		0	0	0.002299	0	0
CLCN2	1181	broad.mit.edu	37	3	184069834	184069835	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:184069834_184069835GG>AA	uc003foi.3	-	21	2505_2506	c.2381_2382CC>TT	c.(2380-2382)ccc>cTT	p.P794L	CLCN2_uc003foh.3_Intron|CLCN2_uc010hya.2_Missense_Mutation_p.P777L|CLCN2_uc011brl.2_Missense_Mutation_p.P794L|CLCN2_uc011brm.2_Missense_Mutation_p.P750L	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	794	CBS 2.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CCAGCTGGAAGGGAGCAGGATC	0.564000														109			40		0	0	0.004672	0	0
FAM9A	171482	broad.mit.edu	37	X	8767068	8767068	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:8767068C>T	uc022bsk.1	-	2	295	c.159G>A	c.(157-159)agG>agA	p.R53R	FAM9A_uc004csg.3_Silent_p.R53R	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	53						nucleolus		p.R53G(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TGGCAGCCTTCCTGCTGCGCT	0.567000														10			17		0	0	0.004007	0	0
ADRA2B	151	broad.mit.edu	37	2	96781764	96781764	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:96781764G>A	uc021vlh.1	-	0	125	c.125C>T	c.(124-126)tCg>tTg	p.S42L		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	42					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCGCGCAGCGAGCGGCTGGT	0.637000														11			10		0	0	0.006214	0	0
CYP2C19	1557	broad.mit.edu	37	10	96540335	96540335	+	Silent	SNP	C	T	T	rs145272564		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96540335C>T	uc010qnz.2	+	3	561	c.561C>T	c.(559-561)ttC>ttT	p.F187F	CYP2C19_uc009xus.1_Silent_p.F52F|CYP2C19_uc010qny.2_Silent_p.F165F	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	187					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AGAAACGTTTCGATTATAAAG	0.403000														81			19		0	0	0.006122	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456510	106456510	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:106456510G>A	uc003ymd.3	+	2	225	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	68					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTTCCAGGTGATGATGAAGG	0.463000														10			6		0	0	0.001168	0	0
CIITA	4261	broad.mit.edu	37	16	11000490	11000490	+	Missense_Mutation	SNP	G	A	A	rs137852602		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:11000490G>A	uc002daj.4	+	10	1277	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	CIITA_uc002dai.4_Missense_Mutation_p.E381K|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.E381K|CIITA_uc002dah.2_Missense_Mutation_p.E333K|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	381					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTGGAGCGGGAACTGGCCAC	0.687000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									13			11		0	0	0.000978	0	0
TLL2	7093	broad.mit.edu	37	10	98180820	98180820	+	Splice_Site	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:98180820T>G	uc001kml.2	-	7	1059	c.818_splice	c.e7-1	p.G273_splice	TLL2_uc009xvf.2_Splice_Site_p.G221_splice	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	273	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACTCCTGACCTGTGACACAAC	0.498000														62			12		0	0	0.001368	0	0
GPR12	2835	broad.mit.edu	37	13	27333865	27333865	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:27333865G>A	uc021rhk.1	-	0	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S	GPR12_uc010aal.3_Missense_Mutation_p.P34S|GPR12_uc010tdl.2_Intron	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	34						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TCTACGGCAGGAACCCGGGAG	0.542000														22			16		0	0	0.007413	0	0
ATAD3C	219293	broad.mit.edu	37	1	1391200	1391200	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:1391200C>T	uc001aft.2	+	5	1463	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	156							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCGCGACATCGCCATAATGA	0.627000														22			6		0	0	0.001168	0	0
NLRP13	126204	broad.mit.edu	37	19	56410206	56410206	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56410206C>T	uc010ygg.2	-	9	2912	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	963							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCCTGAAGATCATTTTCTCCC	0.463000														16			43		0	0	0.002222	0	0
RNF8	9025	broad.mit.edu	37	6	37349114	37349114	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:37349114C>T	uc003onq.4	+	6	1618	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	RNF8_uc003onr.4_Intron|RNF8_uc011dtx.2_Silent_p.L407L	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	475					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAATTGTTCTCATTAGGGAAC	0.368000														54			18		0	0	0.008871	0	0
MYF5	4617	broad.mit.edu	37	12	81112674	81112674	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:81112674G>A	uc001szg.2	+	2	747	c.612G>A	c.(610-612)ttG>ttA	p.L204L		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	204					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TATCCAGCTTGGATTGCTTAT	0.438000														43			58		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179479601	179479601	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179479601C>T	uc021vsy.1	-	208	41254	c.41029G>A	c.(41029-41031)Gag>Aag	p.E13677K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E7372K|TTN_uc021vta.1_Missense_Mutation_p.E7305K|TTN_uc021vtb.1_Missense_Mutation_p.E7180K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14604	Ig-like 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E13677K(2)|p.E7305K(1)|p.E7372K(1)|p.E7180K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATTTCCTCTGTGGGTCTG	0.443000														2			4		0	0	0.000248	0	0
ADAM29	11086	broad.mit.edu	37	4	175898159	175898159	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:175898159G>A	uc003iuc.3	+	4	2153	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	ADAM29_uc003iud.3_Missense_Mutation_p.E495K|ADAM29_uc010irr.3_Missense_Mutation_p.E495K|ADAM29_uc011cki.2_Missense_Mutation_p.E495K|ADAM29_uc021xuo.1_Missense_Mutation_p.E495K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	495	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CTACTGCTATGAAAAGAGCTG	0.453000														73			45		0	0	0.003610	0	0
MUC3A	4584	broad.mit.edu	37	7	100551602	100551602	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100551602C>T	uc003uxl.1	+	0	853	c.53C>T	c.(52-54)tCc>tTc	p.S18F	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CCAATCAGTTCCTTTAGCACA	0.493000														296			9		0	0	0.001786	0	0
FAM83B	222584	broad.mit.edu	37	6	54805639	54805639	+	Silent	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:54805639T>C	uc003pck.3	+	4	1986	c.1870T>C	c.(1870-1872)Tta>Cta	p.L624L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	624										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCAGTAGCCTTAAACCAAAC	0.403000														42			19		0	0	0.001523	0	0
KCNH4	23415	broad.mit.edu	37	17	40312181	40312181	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:40312181G>A	uc002hzb.2	-	15	3264	c.2931C>T	c.(2929-2931)tcC>tcT	p.S977S		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	977					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGGCAATATGGAAGGTCTCA	0.612000														12			59		0	0	0.003610	0	0
KIF1A	547	broad.mit.edu	37	2	241726675	241726675	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:241726675G>A	uc010fzk.3	-	4	669	c.422C>T	c.(421-423)tCc>tTc	p.S141F	KIF1A_uc002vzy.3_Missense_Mutation_p.S141F|KIF1A_uc002vzz.2_Missense_Mutation_p.S141F	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	141	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TACCTCCACGGAGTAGGACAT	0.627000														36			5		0	0	0.000602	0	0
IL22	50616	broad.mit.edu	37	12	68645343	68645343	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:68645343C>T	uc001sty.1	-	3	465	c.412G>A	c.(412-414)Gac>Aac	p.D138N	IL22_uc010stb.1_Missense_Mutation_p.D138N	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	138					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ATATGCAGGTCATCACCTTCA	0.388000														33			27		0	0	0.002096	0	0
APOB	338	broad.mit.edu	37	2	21229154	21229154	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:21229154G>A	uc002red.3	-	25	10714	c.10586C>T	c.(10585-10587)tCa>tTa	p.S3529L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3529					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGCTTCACTGAAGACCGTGT	0.438000														420			132		0	0	0.003610	0	0
INHBA	3624	broad.mit.edu	37	7	41729703	41729703	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:41729703C>T	uc003thq.3	-	1	1061	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	INHBA_uc003thr.3_Missense_Mutation_p.E276K	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	276					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						gccccaccttcacctccgccc	0.597000										TSP Lung(11;0.080)				10			35		0	0	0.002445	0	0
PKHD1	5314	broad.mit.edu	37	6	51889493	51889493	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:51889493C>T	uc003pah.1	-	31	5391	c.5115G>A	c.(5113-5115)gtG>gtA	p.V1705V	PKHD1_uc003pai.3_Silent_p.V1705V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1705	IPT/TIG 12; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGAAGGGACCACGCACTGAA	0.527000														57			15		0	0	0.002450	0	0
TESPA1	9840	broad.mit.edu	37	12	55357661	55357661	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:55357661C>T	uc010spd.1	-	7	653	c.520G>A	c.(520-522)Gat>Aat	p.D174N	TESPA1_uc001sgl.3_Missense_Mutation_p.D36N|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_Missense_Mutation_p.D36N|TESPA1_uc001sgn.3_Missense_Mutation_p.D174N	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	174																	TCTTTGTGATCCTCTTGGCCA	0.498000														98			21		0	0	0.001523	0	0
ENPP6	133121	broad.mit.edu	37	4	185038182	185038182	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:185038182C>T	uc003iwc.3	-	4	824	c.682G>A	c.(682-684)Ggc>Agc	p.G228S		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	228					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCCTGCAGGCCCCGCTCCTGT	0.488000														31			15		0	0	0.004990	0	0
SEC13	6396	broad.mit.edu	37	3	10346776	10346776	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:10346776C>T	uc003bvn.3	-	6	771	c.649G>A	c.(649-651)Gat>Aat	p.D217N	SEC13_uc003bvl.3_Missense_Mutation_p.D149N|SEC13_uc003bvm.3_Missense_Mutation_p.D203N|SEC13_uc003bvp.3_Missense_Mutation_p.D220N|SEC13_uc003bvo.3_Missense_Mutation_p.D263N|SEC13_uc003bvr.1_Missense_Mutation_p.D203N	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	217					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						CAGGCCACATCTCGAACCCAG	0.617000														19			20		0	0	0.001882	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773765	25773765	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:25773765C>T	uc003nfe.3	+	7	969	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Missense_Mutation_p.P45S|SLC17A4_uc003nfg.3_Missense_Mutation_p.P221S|SLC17A4_uc010jqa.3_5'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	284					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGGTCTCTTCCCATTAGGGC	0.453000														51			18		0	0	0.008871	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809329	18809329	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:18809329C>T	uc001bax.3	+	0	1906	c.1854C>T	c.(1852-1854)ctC>ctT	p.L618L	KLHDC7A_uc009vpg.3_Silent_p.L400L	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	618						integral to membrane		p.P617T(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGCCGCTCCCCAGTGACA	0.672000														17			17		0	0	0.001523	0	0
TRPM2	7226	broad.mit.edu	37	21	45821572	45821572	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:45821572G>A	uc010gpt.1	+	15	2430	c.2330G>A	c.(2329-2331)aGg>aAg	p.R777K	TRPM2_uc002zet.1_Missense_Mutation_p.R777K|TRPM2_uc002zeu.1_Missense_Mutation_p.R777K|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R777K|TRPM2_uc002zex.1_Missense_Mutation_p.R563K|TRPM2_uc002zey.1_Missense_Mutation_p.R290K	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	777						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGGGAGAAGAGGCTGCAGGAT	0.672000														19			25		0	0	0.003330	0	0
SNRNP200	23020	broad.mit.edu	37	2	96970545	96970546	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:96970545_96970546GG>AA	uc002svu.3	-	1	238_239	c.106_107CC>TT	c.(106-108)ccc>TTc	p.P36F		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	36						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTCTCCTGTGGGTTCATCCCGG	0.530000														22			15		0	0	0.004672	0	0
AKR1C3	8644	broad.mit.edu	37	10	5149682	5149682	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:5149682C>T	uc001ihr.3	+	8	1142	c.959C>T	c.(958-960)tCa>tTa	p.S320L	AKR1C3_uc021pml.1_Missense_Mutation_p.S320L|AKR1C3_uc010qap.2_Missense_Mutation_p.S297L|AKR1C3_uc001ihu.3_Missense_Mutation_p.S320L	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	320					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TATCCATATTCAGATGAATAT	0.408000														23			8		0	0	0.003080	0	0
STAB1	23166	broad.mit.edu	37	3	52556830	52556830	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:52556830G>A	uc003dej.3	+	61	6858	c.6784G>A	c.(6784-6786)Ggc>Agc	p.G2262S	STAB1_uc003dek.1_Missense_Mutation_p.G277S|STAB1_uc003del.3_Missense_Mutation_p.G149S	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2262	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCTGGCCAATGGCTCCACTGC	0.612000														27			39		0	0	0.003610	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883577	19883577	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:19883577G>A	uc010vav.2	-	1	900	c.669C>T	c.(667-669)ccC>ccT	p.P223P	GPRC5B_uc021tef.1_Silent_p.P189P|GPRC5B_uc002dgt.3_Silent_p.P197P	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	197										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAAAGTCCATGGGCTCGTAGG	0.607000														31			22		0	0	0.002780	0	0
BTBD3	22903	broad.mit.edu	37	20	11903450	11903450	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:11903450C>T	uc002wnz.3	+	3	1064	c.705C>T	c.(703-705)ttC>ttT	p.F235F	BTBD3_uc002wny.3_Silent_p.F174F|BTBD3_uc002woa.3_Silent_p.F174F|BTBD3_uc010zrf.2_Silent_p.F84F|BTBD3_uc010zrg.2_Silent_p.F84F|BTBD3_uc010zrh.2_Silent_p.F84F	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	235										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GCTGCCTGTTCGAGGAGCCAG	0.547000														27			13		0	0	0.001855	0	0
STAB2	55576	broad.mit.edu	37	12	104109592	104109592	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:104109592G>A	uc001tjw.3	+	43	4724	c.4538_splice	c.e43-1	p.E1513_splice	STAB2_uc009zug.3_Splice_Site	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1513	EGF-like 13.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TTGTTTTAAAGAAATCAACCC	0.512000														34			4		0	0	0.000602	0	0
DYSF	8291	broad.mit.edu	37	2	71906329	71906329	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:71906329C>T	uc010fen.3	+	52	6168	c.6027C>T	c.(6025-6027)ccC>ccT	p.P2009P	DYSF_uc010fei.3_Silent_p.P1987P|DYSF_uc010feh.3_Silent_p.P1977P|DYSF_uc002sig.4_Silent_p.P1956P|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.P2001P|DYSF_uc010fee.3_Silent_p.P1991P|DYSF_uc010fef.3_Silent_p.P2008P|DYSF_uc002sie.3_Silent_p.P1970P|DYSF_uc010feo.3_Silent_p.P2002P|DYSF_uc010fej.3_Silent_p.P1978P|DYSF_uc010fel.3_Silent_p.P1957P|DYSF_uc010fem.3_Silent_p.P1992P|DYSF_uc002sif.3_Silent_p.P1971P|DYSF_uc010fek.3_Silent_p.P1988P|DYSF_uc010yqy.2_Silent_p.P851P|DYSF_uc010yqz.2_Silent_p.P731P	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1970						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGTGGCCCTGTGTAGCAG	0.512000														19			20		0	0	0.008871	0	0
SCN3A	6328	broad.mit.edu	37	2	165947758	165947758	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:165947758G>A	uc002ucx.3	-	27	5397	c.4905C>T	c.(4903-4905)atC>atT	p.I1635I	SCN3A_uc010zcy.2_Silent_p.I118I|SCN3A_uc002ucy.3_Silent_p.I1586I|SCN3A_uc002ucz.3_Silent_p.I1586I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1635						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTGCTCCTTTGATCAGACGTA	0.483000														41			33		0	0	0.003271	0	0
PADI4	23569	broad.mit.edu	37	1	17657566	17657566	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:17657566C>T	uc001baj.2	+	1	223	c.195C>T	c.(193-195)tcC>tcT	p.S65S	PADI4_uc009vpc.2_Silent_p.S65S	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	65					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCACAGGTTCCTCCACATGGC	0.607000														30			10		0	0	0.008291	0	0
KCNF1	3754	broad.mit.edu	37	2	11053003	11053003	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:11053003G>A	uc002rax.3	+	0	941	c.451G>A	c.(451-453)Gac>Aac	p.D151N		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	151						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CATCCTGGACGACCTGGGCGT	0.682000														27			7		0	0	0.003080	0	0
MYOM2	9172	broad.mit.edu	37	8	2046768	2046768	+	Missense_Mutation	SNP	C	T	T	rs112847331		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:2046768C>T	uc003wpx.4	+	18	2533	c.2395C>T	c.(2395-2397)Ccc>Tcc	p.P799S	MYOM2_uc011kwi.2_Missense_Mutation_p.P224S	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	799	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCCCTCAGATCCCAGTGAGCA	0.612000														16			10		0	0	0.001368	0	0
XKR4	114786	broad.mit.edu	37	8	56015501	56015501	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:56015501C>T	uc003xsf.3	+	0	485	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	151						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CGCTCTTCTTCGTGGTGCTCG	0.652000														23			16		0	0	0.004990	0	0
LRP1B	53353	broad.mit.edu	37	2	141762966	141762966	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:141762966C>T	uc002tvj.1	-	14	3413	c.2441G>A	c.(2440-2442)gGa>gAa	p.G814E	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	814	EGF-like 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P813T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CACCCGGCCTCCTGGGATAGC	0.438000										TSP Lung(27;0.18)				21			19		0	0	0.007413	0	0
TNXB	7148	broad.mit.edu	37	6	32024387	32024387	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:32024387G>A	uc003nzl.2	-	22	8321	c.8119C>T	c.(8119-8121)Ccc>Tcc	p.P2707S		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2767	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACAGAGATGGGGCCCACGCGC	0.632000														288			85		0	0	0.003610	0	0
BLK	640	broad.mit.edu	37	8	11412914	11412914	+	Silent	SNP	G	A	A	rs111642844		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:11412914G>A	uc003wty.3	+	7	1274	c.693G>A	c.(691-693)caG>caA	p.Q231Q		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	231					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Q231H(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCTGGGCCCAGGATGAATGGG	0.612000														45			9		0	0	0.006214	0	0
MAP3K1	4214	broad.mit.edu	37	5	56174881	56174881	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:56174881C>T	uc003jqw.4	+	10	2541	c.2040C>T	c.(2038-2040)ctC>ctT	p.L680L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	680					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGAGACTTCTCCAGCCAGTTG	0.413000														15			26		0	0	0.005443	0	0
ZNF208	7757	broad.mit.edu	37	19	22154256	22154256	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22154256C>T	uc021urr.1	-	3	3729	c.3580G>A	c.(3580-3582)Gag>Aag	p.E1194K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAGAGTTTCTCTCCAGTATGA	0.373000														7			13		0	0	0.002450	0	0
CDHR1	92211	broad.mit.edu	37	10	85974117	85974117	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:85974117C>T	uc001kcv.3	+	16	2425	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S	CDHR1_uc001kcw.3_Intron|CDHR1_uc009xst.3_Missense_Mutation_p.P478S|CDHR1_uc001kcx.3_Missense_Mutation_p.P88S	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	774	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AGAGAAACCTCCCAATGAGAA	0.617000														58			16		0	0	0.004007	0	0
DNER	92737	broad.mit.edu	37	2	230341907	230341907	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:230341907C>T	uc002vpv.3	-	6	1357	c.1210G>A	c.(1210-1212)Gga>Aga	p.G404R	DNER_uc010zly.1_Missense_Mutation_p.G132R	NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	404	EGF-like 5.				Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.G404R(2)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		CATGTTGCTCCATTTCTGCAT	0.358000														37			13		0	0	0.007413	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185461	127185461	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:127185461C>T	uc004eum.3	-	0	922	c.725G>A	c.(724-726)aGa>aAa	p.R242K		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	242						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						ATCTGGCAGTCTGTATGCTCC	0.542000														34			52		0	0	0.003610	0	0
ELTD1	64123	broad.mit.edu	37	1	79404875	79404875	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:79404875T>C	uc001diq.4	-	3	550	c.394A>G	c.(394-396)Aaa>Gaa	p.K132E		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	132					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CTACTTACTTTTGTTAAAGTT	0.259000														27			7		0	0	0.001984	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41008722	41008722	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:41008722G>A	uc003jmj.4	-	32	4084	c.3594C>T	c.(3592-3594)atC>atT	p.I1198I	HEATR7B2_uc003jmi.4_Silent_p.I753I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1198							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGGGGTCTGGGATCTGCTGCT	0.567000														43			21		0	0	0.008361	0	0
OR4D5	219875	broad.mit.edu	37	11	123811173	123811173	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:123811173C>T	uc001pzk.1	+	0	850	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CATGCTGAATCCTGCCATCTA	0.502000														21			46		0	0	0.003610	0	0
NBPF1	55672	broad.mit.edu	37	1	16907242	16907243	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:16907242_16907243GG>TT	uc009vos.1	-	15	2476_2477	c.1588_1589CC>AA	c.(1588-1590)cca>AAa	p.P530K	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P259K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	530	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAGGCTACCTGGGAGAATGTTT	0.421000														765			10		0	0	0.004672	0	0
FARP1	10160	broad.mit.edu	37	13	99038001	99038001	+	Missense_Mutation	SNP	C	T	T	rs150061718	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:99038001C>T	uc001vnh.3	+	7	931	c.692C>T	c.(691-693)cCg>cTg	p.P231L	FARP1_uc001vnj.3_Missense_Mutation_p.P231L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	231	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CGGTTGCACCCGGCCAAGGAC	0.502000														18			36		0	0	0.006230	0	0
CYP11B2	1585	broad.mit.edu	37	8	143999259	143999259	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:143999259C>T	uc003yxk.1	-	1	1	c.-2_splice	c.e1-1			NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.						aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	AGTGCCATTCCAATGCTCCCT	0.607000									Familial Hyperaldosteronism type I					64			43		0	0	0.003610	0	0
MYOM2	9172	broad.mit.edu	37	8	2057242	2057242	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:2057242T>C	uc003wpx.4	+	24	3238	c.3100T>C	c.(3100-3102)Ttc>Ctc	p.F1034L	MYOM2_uc011kwi.2_Missense_Mutation_p.F459L	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1034					muscle contraction	myosin filament	structural constituent of muscle	p.R1033H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GCGGGTTCGCTTCTGGCTCCA	0.443000														22			22		0	0	0.001523	0	0
ZNF645	158506	broad.mit.edu	37	X	22291889	22291889	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:22291889C>T	uc004dai.2	+	0	860	c.781C>T	c.(781-783)Cct>Tct	p.P261S		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	261	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CGACTATTATCCTGAGTGTCA	0.418000														34			65		0	0	0.003610	0	0
CCDC130	81576	broad.mit.edu	37	19	13873709	13873709	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:13873709A>G	uc002mxc.1	+	9	1235	c.1018A>G	c.(1018-1020)Aca>Gca	p.T340A	MRI1_uc002mxe.3_5'Flank|MRI1_uc002mxf.3_5'Flank	NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	340					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			TCCTCCGGAAACAACTGAGAC	0.692000														2			7		0	0	0.003080	0	0
OR4A5	81318	broad.mit.edu	37	11	51411617	51411617	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:51411617G>A	uc001nhi.2	-	0	832	c.779C>T	c.(778-780)tCa>tTa	p.S260L		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AGGAAAGTTTGAAACAGGTCT	0.383000														9			11		0	0	0.001368	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958838	51958838	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:51958838C>T	uc002pwt.3	-	3	952	c.885G>A	c.(883-885)tgG>tgA	p.W295*	SIGLEC8_uc010yda.2_Nonsense_Mutation_p.W186*|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Nonsense_Mutation_p.W202*	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	295	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.W295L(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCCCCGGGTCCAGCTCAGCC	0.632000														9			24		0	0	0.002780	0	0
PLCB2	5330	broad.mit.edu	37	15	40594354	40594354	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:40594354C>T	uc001zld.3	-	5	790	c.489G>A	c.(487-489)ggG>ggA	p.G163G	PLCB2_uc010bbo.3_Silent_p.G163G|PLCB2_uc010ucm.2_Silent_p.G163G|PLCB2_uc001zle.4_Silent_p.G163G	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	163					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCGGAATCTTCCCTTCAGAGT	0.607000														74			43		0	0	0.003610	0	0
FGD5	152273	broad.mit.edu	37	3	14942551	14942551	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:14942551G>A	uc003bzc.3	+	8	3357	c.3247G>A	c.(3247-3249)Gac>Aac	p.D1083N	FGD5_uc011avk.2_Missense_Mutation_p.D1083N|FGD5_uc003bzd.3_Missense_Mutation_p.D161N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1083	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCGTGCCAACGACAGCATGGA	0.622000														36			34		0	0	0.002222	0	0
PAPLN	89932	broad.mit.edu	37	14	73727967	73727967	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:73727967C>T	uc010ttx.2	+	16	2373	c.2210C>T	c.(2209-2211)cCt>cTt	p.P737L	PAPLN_uc001xnw.4_Missense_Mutation_p.P710L|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.P737L|PAPLN_uc010arm.3_5'UTR|PAPLN_uc010arn.3_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	737						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.P710L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCAGCCGGTCCTCTTGGGGAA	0.642000														13			10		0	0	0.002450	0	0
CLCN5	1184	broad.mit.edu	37	X	49855127	49855127	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:49855127G>A	uc004dos.1	+	9	2137	c.1889G>A	c.(1888-1890)aGa>aAa	p.R630K	CLCN5_uc004dor.1_Missense_Mutation_p.R700K|CLCN5_uc004doq.1_Missense_Mutation_p.R700K|CLCN5_uc004dot.1_Missense_Mutation_p.R630K	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	630	CBS 1.				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GAGTCCCAAAGACTTGTGGGC	0.453000														8			7		0	0	0.003080	0	0
RPL4	6124	broad.mit.edu	37	15	66794230	66794230	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:66794230G>A	uc002apv.3	-	4	507	c.442C>T	c.(442-444)Cct>Tct	p.P148S	RPL4_uc002apx.3_Missense_Mutation_p.P54S|RPL4_uc010ujq.2_Missense_Mutation_p.P148S|RPL4_uc010bhs.1_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	Homo sapiens ribosomal protein L4 (RPL4), mRNA.	148					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GGAAGTTCAGGAACTTCCTCA	0.343000														20			8		0	0	0.004482	0	0
SLC6A11	6538	broad.mit.edu	37	3	10967746	10967747	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:10967746_10967747CC>AA	uc003bvz.3	+	8	1211_1212	c.1177_1178CC>AA	c.(1177-1179)ccg>AAg	p.P393K		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	393					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GCCTCTCTCCCCGCTGTGGGCC	0.639000														196			7		0	0	0.004672	0	0
ARMC1	55156	broad.mit.edu	37	8	66539522	66539522	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:66539522G>A	uc003xvl.3	-	1	367	c.112C>T	c.(112-114)Cag>Tag	p.Q38*	ARMC1_uc011leo.2_5'UTR	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	38					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AGACATCCCTGATCCTGGACG	0.478000														78			23		0	0	0.002780	0	0
KIAA1109	84162	broad.mit.edu	37	4	123140648	123140648	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:123140648C>T	uc003ieh.3	+	18	2446	c.2401C>T	c.(2401-2403)Cat>Tat	p.H801Y	KIAA1109_uc003iei.1_Missense_Mutation_p.H555Y|KIAA1109_uc010ins.1_Missense_Mutation_p.H145Y|KIAA1109_uc003iej.1_Missense_Mutation_p.H186Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	801					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAAGTCAATTCATCCACTTGC	0.413000														58			45		0	0	0.003610	0	0
RBFOX1	54715	broad.mit.edu	37	16	7760624	7760624	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:7760624G>A	uc002cys.2	+	16	2060	c.1072_splice	c.e16-1	p.N358_splice	RBFOX1_uc002cyt.2_Splice_Site_p.N331_splice|RBFOX1_uc010uyb.1_Splice_Site_p.N358_splice|RBFOX1_uc002cyw.2_Splice_Site_p.*396_splice|RBFOX1_uc002cyy.2_Splice_Site_p.N379_splice|RBFOX1_uc002cyx.2_Intron|RBFOX1_uc010uyc.1_Splice_Site_p.N352_splice	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	358					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CTTTGTTTCAGAATGCTTTTG	0.403000														48			28		0	0	0.002096	0	0
ZBTB46	140685	broad.mit.edu	37	20	62378417	62378417	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:62378417C>T	uc002ygv.2	-	4	1837	c.1636G>A	c.(1636-1638)Gag>Aag	p.E546K	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCCAGCTCCTCCGCCTCCCCT	0.726000														7			18		0	0	0.002299	0	0
C20orf144	128864	broad.mit.edu	37	20	32251358	32251358	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:32251358C>T	uc002wzs.2	+	1	207	c.147C>T	c.(145-147)ctC>ctT	p.L49L	NECAB3_uc002wzl.3_5'Flank|NECAB3_uc002wzm.4_Intron|NECAB3_uc002wzn.4_Intron|NECAB3_uc002wzo.4_Intron|ACTL10_uc002wzt.3_5'Flank	NM_080825	NP_543015	Q9BQM9	CT144_HUMAN	Homo sapiens chromosome 20 open reading frame 144 (C20orf144), mRNA.	49										lung(1)	1						TGCTGATTCTCCCCCTGGACA	0.721000														25			19		0	0	0.001882	0	0
PITX2	5308	broad.mit.edu	37	4	111539353	111539353	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:111539353G>A	uc003iaf.3	-	6	2705	c.882C>T	c.(880-882)ttC>ttT	p.F294F	PITX2_uc003iac.3_Silent_p.F301F|PITX2_uc003iad.3_Silent_p.F294F|PITX2_uc021xqr.1_Silent_p.F294F|PITX2_uc003iae.3_Silent_p.F248F|PITX2_uc021xqs.1_Silent_p.F248F	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	294					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGGCGTAGCCGAAGCTGGAGT	0.627000														43			14		0	0	0.001855	0	0
CYP2C19	1557	broad.mit.edu	37	10	96484284	96484284	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:96484284C>T	uc001kjv.4	+	6	1469	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	CYP2C19_uc001kjw.4_Silent_p.I322I|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	381					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACTACCTCATCCCCAAGGTAA	0.458000														66			12		0	0	0.002450	0	0
FNDC1	84624	broad.mit.edu	37	6	159654087	159654087	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:159654087C>T	uc010kjv.3	+	10	2743	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	FNDC1_uc010kjw.1_Missense_Mutation_p.S733F	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	848						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCTCCAGCTCCCCACAGTCG	0.602000														2			6		0	0	0.001168	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:13029765G>A	uc002wod.1	+	1	579	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_uc002woc.3_Missense_Mutation_p.R97K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	97					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GCTGTGGAAAGAAAAGAACAA	0.428000														20			8		0	0	0.003080	0	0
ISLR	3671	broad.mit.edu	37	15	74468479	74468479	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:74468479C>T	uc002axg.1	+	1	1562	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	ISLR_uc002axh.1_Missense_Mutation_p.S427F|ISLR_uc021sqf.1_Missense_Mutation_p.S427F	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	427					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TTCCTCACCTCCTTCTAGCCC	0.642000														24			8		0	0	0.004482	0	0
RP1L1	94137	broad.mit.edu	37	8	10469796	10469796	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:10469796C>T	uc003wtc.3	-	3	2041	c.1812G>A	c.(1810-1812)gcG>gcA	p.A604A		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	604					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTGTCACAGCCGCTCCCGTGG	0.632000														34			32		0	0	0.002836	0	0
KIF4A	24137	broad.mit.edu	37	X	69626151	69626151	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:69626151C>T	uc004dyg.3	+	26	3162	c.3019C>T	c.(3019-3021)Cct>Tct	p.P1007S	KIF4A_uc010nkw.3_Missense_Mutation_p.P1007S	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	1007	Globular.|Interaction with PRC1.			QKHLPKDTLLSP -> RTLPRIPFYLQ (in Ref. 8; AAF86334).	anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GAAACATCTTCCTAAGGATAC	0.438000														9			18		0	0	0.001523	0	0
SULF2	55959	broad.mit.edu	37	20	46301014	46301014	+	Missense_Mutation	SNP	C	T	T	rs143133611	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:46301014C>T	uc002xto.3	-	10	1834	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	SULF2_uc002xtr.3_Missense_Mutation_p.E502K|SULF2_uc002xtq.3_Missense_Mutation_p.E502K	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	502					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.E502K(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGCAGGCCTCGCTGCCCTGC	0.617000														50			46		0	0	0.003610	0	0
CCDC170	80129	broad.mit.edu	37	6	151859284	151859284	+	Silent	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:151859284C>A	uc003qol.3	+	2	380	c.291C>A	c.(289-291)ctC>ctA	p.L97L		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	97																	AATCATCTCTCCTTACCTCTT	0.418000														8			12		1.05317e-09	1.60992e-09	0.002450	1	0
FURIN	5045	broad.mit.edu	37	15	91424816	91424816	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:91424816T>G	uc002bpu.1	+	15	2309	c.2093T>G	c.(2092-2094)gTg>gGg	p.V698G	FES_uc002bpv.3_5'Flank|FES_uc010uqj.2_5'Flank|FES_uc010uqk.2_5'Flank	NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	698	Cys-rich.				Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCCCCGGAGGTGGAGGCGGGG	0.697000														109			33		0	0	0.007835	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777621	18777621	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:18777621C>T	uc003zne.4	+	18	3546	c.3394C>T	c.(3394-3396)Ctc>Ttc	p.L1132F		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1132						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCAGTGACTCTCTCGCCTCA	0.672000														4			3		0	0	0.000602	0	0
ACOT7	11332	broad.mit.edu	37	1	6354942	6354942	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:6354942G>A	uc001ams.3	-	6	998	c.841C>T	c.(841-843)Cat>Tat	p.H281Y	ACOT7_uc001amt.3_Missense_Mutation_p.H271Y|ACOT7_uc001amu.3_Non-coding_Transcript|ACOT7_uc001amq.3_Missense_Mutation_p.H230Y|ACOT7_uc001amr.3_Missense_Mutation_p.H251Y	NM_181864	NP_863654	O00154	BACH_HUMAN	Homo sapiens acyl-CoA thioesterase 7 (ACOT7), transcript variant hBACHb, mRNA.	281	Acyl coenzyme A hydrolase 2.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		ATCTTGTCATGAAAATTAATG	0.537000														49			12		0	0	0.003163	0	0
ZNF676	163223	broad.mit.edu	37	19	22363780	22363780	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22363780G>A	uc002nqs.1	-	2	1057	c.739C>T	c.(739-741)Cat>Tat	p.H247Y		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCCAGTATGAATTATCTTA	0.368000														18			13		0	0	0.001855	0	0
OR10K2	391107	broad.mit.edu	37	1	158389888	158389888	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158389888A>T	uc010pii.2	-	0	769	c.769T>A	c.(769-771)Ttt>Att	p.F257I		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AAGTAGATAAAGGAGGCACAG	0.423000														46			9		0	0	0.000978	0	0
PSKH2	85481	broad.mit.edu	37	8	87081804	87081804	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:87081804C>T	uc011lfy.2	-	0	48	c.48G>A	c.(46-48)ctG>ctA	p.L16L		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	16							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TGGCCCAAGCCAGCGCTGGTG	0.741000														8			14		0	0	0.004007	0	0
MFSD6	54842	broad.mit.edu	37	2	191364880	191364880	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:191364880G>A	uc002urz.2	+	7	2636	c.2312G>A	c.(2311-2313)aGt>aAt	p.S771N	MFSD6_uc010zge.1_Missense_Mutation_p.S233N	NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	771					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GCTCACCCCAGTGTGGACCCG	0.617000														43			10		0	0	0.008291	0	0
ST8SIA6	338596	broad.mit.edu	37	10	17362936	17362936	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:17362936G>A	uc001ipd.3	-	7	1138	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	380					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TGAAGTTGGAGGATCTGGCTG	0.368000														84			55		0	0	0.003610	0	0
DEFB112	245915	broad.mit.edu	37	6	50011320	50011320	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:50011320G>A	uc011dws.2	-	1	310	c.310C>T	c.(310-312)Caa>Taa	p.Q104*		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	104					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TACCATTCTTGAGTCCCTACT	0.408000														30			14		0	0	0.003163	0	0
FLRT2	23768	broad.mit.edu	37	14	86088320	86088320	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:86088320C>T	uc021rxf.1	+	0	462	c.462C>T	c.(460-462)gcC>gcT	p.A154A	FLRT2_uc001xvr.3_Silent_p.A154A|FLRT2_uc010atd.3_Silent_p.A154A	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	154					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGACGGGGCCTTCCGGGAGG	0.527000														5			19		0	0	0.008871	0	0
HIPK2	28996	broad.mit.edu	37	7	139268718	139268718	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:139268718G>A	uc003vvf.4	-	12	3081	c.2810C>T	c.(2809-2811)tCc>tTc	p.S937F	HIPK2_uc003vvd.4_Missense_Mutation_p.S910F	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	937	Interaction with AXIN1 (By similarity).|Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGCTGCACGGAGTAGGGGCT	0.562000														17			24		0	0	0.003954	0	0
SLC6A13	6540	broad.mit.edu	37	12	344277	344277	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:344277G>A	uc001qic.2	-	6	900	c.810C>T	c.(808-810)ctC>ctT	p.L270L	SLC6A13_uc009zdj.2_Silent_p.L270L|SLC6A13_uc010sdl.2_Silent_p.L178L|SLC6A13_uc010sdm.1_Silent_p.L151L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	270					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.L270L(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAGACGCGTGAGGTTTGGGT	0.572000														18			28		0	0	0.008361	0	0
GPAM	57678	broad.mit.edu	37	10	113915751	113915751	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:113915751A>T	uc009xxy.2	-	19	2392	c.2182T>A	c.(2182-2184)Ttg>Atg	p.L728M	GPAM_uc001kzp.3_Missense_Mutation_p.L728M|GPAM_uc001kzq.1_3'UTR	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	728					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GCCTCCAGCAAAGGCCCAAGG	0.483000														15			6		0	0	0.001168	0	0
DMBT1	1755	broad.mit.edu	37	10	124339144	124339144	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:124339144C>T	uc001lgk.1	+	9	836	c.730C>T	c.(730-732)Cga>Tga	p.R244*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.R244*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R244*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R244*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R244*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R244*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R244*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Nonsense_Mutation_p.R96*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	244	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R244*(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CGACAGGTGTCGAGGCCGAGT	0.567000														213			68		0	0	0.003610	0	0
COL11A2	1302	broad.mit.edu	37	6	33146700	33146700	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:33146700C>T	uc003ocx.1	-	16	1890	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Silent_p.V468V|COL11A2_uc003ocz.1_Silent_p.V447V	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	554	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.V554A(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTTACCTTCACTCCAGGAT	0.617000														39			8		0	0	0.004482	0	0
ADAM2	2515	broad.mit.edu	37	8	39626974	39626974	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:39626974C>T	uc003xnj.3	-	11	1224	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	ADAM2_uc003xnk.3_Silent_p.Q364Q|ADAM2_uc011lck.2_Silent_p.Q383Q|ADAM2_uc003xnl.3_Silent_p.Q257Q	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	383					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACACTGCTTGCTGTTTGAAAA	0.443000														36			11		0	0	0.001368	0	0
F8	2157	broad.mit.edu	37	X	154158550	154158550	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:154158550C>T	uc004fmt.3	-	13	3686	c.3515G>A	c.(3514-3516)gGa>gAa	p.G1172E		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1172	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCACCCTTTCCTACTACCAC	0.383000														34			27		0	0	0.007291	0	0
CTF1	1489	broad.mit.edu	37	16	30910772	30910772	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:30910772C>T	uc002dzw.3	+	1	99	c.62C>T	c.(61-63)cCc>cTc	p.P21L	CTF1_uc002dzx.3_Missense_Mutation_p.P20L	NM_001330	NP_001321	Q16619	CTF1_HUMAN	Homo sapiens cardiotrophin 1 (CTF1), transcript variant 1, mRNA.	21					cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation	extracellular space	cytokine activity|leukemia inhibitory factor receptor binding			large_intestine(1)|urinary_tract(1)	2			Colorectal(24;0.198)			TCACTTCTTCCCCACTTGGAG	0.567000														20			26		0	0	0.006320	0	0
TG	7038	broad.mit.edu	37	8	133894734	133894734	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:133894734G>A	uc003ytw.3	+	6	807	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	256	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTTACTGGATGAAATTTATGA	0.468000														147			46		0	0	0.003610	0	0
PRSS16	10279	broad.mit.edu	37	6	27215814	27215814	+	Missense_Mutation	SNP	G	A	A	rs150849072	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:27215814G>A	uc003nja.3	+	1	239	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.R75Q|PRSS16_uc003njc.1_5'Flank|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	75					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.R75Q(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCGACAGACGATCCTTCCTA	0.617000														13			20		0	0	0.001882	0	0
CDKAL1	54901	broad.mit.edu	37	6	20955722	20955723	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:20955722_20955723CC>AA	uc003ndd.2	+	9	982_983	c.815_816CC>AA	c.(814-816)ccc>cAA	p.P272Q	CDKAL1_uc003nde.2_Missense_Mutation_p.P202Q|CDKAL1_uc021ymk.1_Missense_Mutation_p.P272Q	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	272					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ACCAATCTCCCCACACTCCTGT	0.460000														640			10		0	0	0.004672	0	0
RASA3	22821	broad.mit.edu	37	13	114748764	114748764	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:114748764G>A	uc001vui.3	-	23	2630	c.2499C>T	c.(2497-2499)tcC>tcT	p.S833S	RASA3_uc010tkk.2_Silent_p.S801S|RASA3_uc001vuj.3_Silent_p.S450S	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	833					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GACTTTAAATGGAATGAGTGG	0.602000														15			22		0	0	0.003330	0	0
MCTP2	55784	broad.mit.edu	37	15	95013640	95013640	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:95013640C>T	uc002btj.3	+	19	2504	c.2439C>T	c.(2437-2439)ttC>ttT	p.F813F	MCTP2_uc010boj.3_Silent_p.F542F|MCTP2_uc010bok.3_Silent_p.F758F|MCTP2_uc002btl.3_Silent_p.F401F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	813					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.F813V(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTTGTATTTCATTCCACTGC	0.403000														102			29		0	0	0.003271	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104319	26104319	+	Silent	SNP	C	T	T	rs146396988		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:26104319C>T	uc003ngi.3	+	0	144	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	48					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AGCGCATTTCCGGTCTTATCT	0.537000														54			18		0	0	0.001523	0	0
SDK1	221935	broad.mit.edu	37	7	4116724	4116724	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:4116724C>T	uc003smx.3	+	20	3244	c.3105C>T	c.(3103-3105)ctC>ctT	p.L1035L	SDK1_uc010kso.3_Silent_p.L311L	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1035	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCAAGGCCTCTCATCTCTCA	0.572000														35			12		0	0	0.002450	0	0
ABCC11	85320	broad.mit.edu	37	16	48231937	48231937	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:48231937C>T	uc002eff.1	-	15	2609	c.2259G>A	c.(2257-2259)aaG>aaA	p.K753K	ABCC11_uc002efg.1_Silent_p.K753K|ABCC11_uc002efh.1_Silent_p.K753K|ABCC11_uc010vgk.1_Intron	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	753						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GACTTTCTACCTTTGGCTTCT	0.552000														27			24		0	0	0.003330	0	0
SLC38A8	146167	broad.mit.edu	37	16	84065481	84065481	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:84065481G>A	uc002fhg.1	-	3	623	c.623C>T	c.(622-624)cCt>cTt	p.P208L		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	208					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCAGTGAAGGATGGGACTC	0.627000														56			7		0	0	0.004482	0	0
FREM1	158326	broad.mit.edu	37	9	14806683	14806683	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:14806683T>A	uc003zlm.3	-	18	4066	c.3250A>T	c.(3250-3252)Aaa>Taa	p.K1084*	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1084					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.E1084*(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATATTGCTTTTTTCAAAACCC	0.428000														1			9		0	0	0.008291	0	0
PRAM1	84106	broad.mit.edu	37	19	8564197	8564198	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:8564197_8564198CC>TT	uc002mkd.3	-	1	557_558	c.494_495GG>AA	c.(493-495)cgg>cAA	p.R165Q		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	213	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GCAGGGGTTTCCGGGCCGGCGC	0.693000														7			10		0	0	0.004672	0	0
C18orf26	284254	broad.mit.edu	37	18	52262277	52262277	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:52262277G>A	uc002lfq.1	+	1	289	c.243G>A	c.(241-243)gtG>gtA	p.V81V		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	81						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		GGGTCTGCGTGAACCCAGGAA	0.453000														53			23		0	0	0.005443	0	0
GPC6	10082	broad.mit.edu	37	13	94680006	94680006	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:94680006C>T	uc001vlt.3	+	3	1367	c.735C>T	c.(733-735)atC>atT	p.I245I	GPC6_uc010tig.1_Silent_p.I245I|5S_rRNA_uc021rli.1_5'Flank	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	245						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CAGGGTGTATCCGTGCCCTCA	0.468000														27			43		0	0	0.003610	0	0
ZC3H12D	340152	broad.mit.edu	37	6	149783102	149783102	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:149783102C>T	uc010kid.3	-	2	580	c.310G>A	c.(310-312)Gga>Aga	p.G104R	ZC3H12D_uc003qmn.1_Missense_Mutation_p.G104R	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	104						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCTTTATTTCCATGGCTACAA	0.438000														4			10		0	0	0.001368	0	0
DCC	1630	broad.mit.edu	37	18	51053037	51053037	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:51053037G>A	uc002lfe.2	+	27	4778	c.4162G>A	c.(4162-4164)Gga>Aga	p.G1388R	DCC_uc010dpf.2_Missense_Mutation_p.G1021R	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1388					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)		TGGGTTGGCTGGAAAAGCAAG	0.483000														46			18		0	0	0.008871	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991482	39991482	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:39991482G>A	uc002xjy.1	-	3	951	c.727C>T	c.(727-729)Cca>Tca	p.P243S		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	243						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GGTGTTAGTGGCCCTCTGGCT	0.597000														53			17		0	0	0.007413	0	0
PRKCG	5582	broad.mit.edu	37	19	54395855	54395855	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:54395855C>T	uc002qcq.1	+	6	1061	c.779C>T	c.(778-780)tCc>tTc	p.S260F	PRKCG_uc010eqz.1_Missense_Mutation_p.S260F|PRKCG_uc010yef.1_Missense_Mutation_p.S260F|PRKCG_uc010yeg.1_Missense_Mutation_p.S260F|PRKCG_uc010yeh.1_Missense_Mutation_p.S147F|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	260	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGGGCCATGTCCTTTGGCGTC	0.642000														7			8		0	0	0.008291	0	0
CRISP2	7180	broad.mit.edu	37	6	49660530	49660530	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:49660530C>T	uc003ozn.2	-	9	924	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	CRISP2_uc003ozr.2_Missense_Mutation_p.E230K|CRISP2_uc003ozo.2_Missense_Mutation_p.E230K|CRISP2_uc003ozm.2_Missense_Mutation_p.E265K|CRISP2_uc003ozp.2_Missense_Mutation_p.E230K|CRISP2_uc003ozq.2_Missense_Mutation_p.E230K|CRISP2_uc003ozl.2_Missense_Mutation_p.E230K	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	230						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGCACTTTTCCTTGAGTAAC	0.393000														60			35		0	0	0.004289	0	0
TTN	7273	broad.mit.edu	37	2	179436997	179436997	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179436997C>T	uc021vsy.1	-	274	66383	c.66158G>A	c.(66157-66159)gGa>gAa	p.G22053E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G15748E|TTN_uc021vta.1_Missense_Mutation_p.G15681E|TTN_uc021vtb.1_Missense_Mutation_p.G15556E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22980	Ig-like 115.						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)			AGTTATTTTTCCTGGAGGAAG	0.458000														14			17		0	0	0.008871	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881353	228881353	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:228881353G>A	uc002vpq.2	-	6	4264	c.4217C>T	c.(4216-4218)tCc>tTc	p.S1406F	SPHKAP_uc002vpp.2_Missense_Mutation_p.S1406F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1406F	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1406						cytoplasm	protein binding	p.S1406F(2)|p.T1405N(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGCACGAGGAAGTTTCTTT	0.438000														63			16		0	0	0.007413	0	0
FAM49B	51571	broad.mit.edu	37	8	130891648	130891648	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:130891648G>A	uc003yss.3	-	5	609	c.60C>T	c.(58-60)ttC>ttT	p.F20F	FAM49B_uc003yst.3_Silent_p.F20F|FAM49B_uc003ysu.3_Silent_p.F20F|FAM49B_uc003ysw.3_Silent_p.F20F|FAM49B_uc003ysx.3_Silent_p.F20F|FAM49B_uc003ysy.1_Silent_p.F20F	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	Homo sapiens family with sequence similarity 49, member B (FAM49B), mRNA.	20										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			CAAAATCAAGGAAAAAATTTG	0.373000														28			15		0	0	0.003163	0	0
PCDH15	65217	broad.mit.edu	37	10	55582895	55582895	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:55582895C>T	uc010qhy.1	-	34	5007	c.4612G>A	c.(4612-4614)Gaa>Aaa	p.E1538K	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1533K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1508K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1528K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1491K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1462K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1533K|PCDH15_uc010qia.1_Missense_Mutation_p.E1511K|PCDH15_uc001jju.1_Missense_Mutation_p.E1531K|PCDH15_uc010qib.1_Missense_Mutation_p.E1508K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1531					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E1531*(1)|p.K1530_E1531>N*(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTATGTTTTCCTTATAAAGG	0.368000										HNSCC(58;0.16)				36			20		0	0	0.008871	0	0
LPIN3	64900	broad.mit.edu	37	20	39984674	39984674	+	Splice_Site	SNP	C	T	T	rs148198959	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:39984674C>T	uc010ggh.3	+	14	1897	c.1806_splice	c.e14+1	p.I602_splice	LPIN3_uc002xjx.3_Splice_Site_p.I601_splice|LPIN3_uc010zwf.2_Splice_Site	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	601	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCGATCAGATCGTAAGTGTGG	0.582000														60			9		0	0	0.006214	0	0
SORL1	6653	broad.mit.edu	37	11	121498459	121498459	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:121498459C>T	uc001pxx.3	+	46	6689	c.6560C>T	c.(6559-6561)tCc>tTc	p.S2187F	SORL1_uc010rzp.1_Missense_Mutation_p.S1033F|SORL1_uc010rzq.1_Missense_Mutation_p.S802F	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2187					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCAATCTTCTCCTCTGGGGAT	0.602000														7			16		0	0	0.006122	0	0
CDCA7	83879	broad.mit.edu	37	2	174229714	174229714	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:174229714G>A	uc002uic.1	+	5	1022	c.891G>A	c.(889-891)atG>atA	p.M297I	CDCA7_uc002uid.1_Missense_Mutation_p.M218I|CDCA7_uc010zej.1_Missense_Mutation_p.M253I|CDCA7_uc010zek.1_Missense_Mutation_p.M176I	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	218	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			ATGGCTACATGAATGTGAGTT	0.522000														19			6		0	0	0.001984	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908344	48908344	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:48908344C>T	uc002pjc.4	+	2	907	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	273						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	ACGTCTGGTTCATGGTGGGGC	0.716000														4			7		0	0	0.004482	0	0
C1orf127	148345	broad.mit.edu	37	1	11017713	11017713	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11017713G>A	uc010oao.2	-	6	653	c.653C>T	c.(652-654)aCc>aTc	p.T218I	C1orf127_uc001ars.2_Missense_Mutation_p.T79I|C1orf127_uc001arr.2_Missense_Mutation_p.T79I	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	69										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GCTTTGGACGGTGACAGTGGT	0.607000														47			9		0	0	0.006214	0	0
CD101	9398	broad.mit.edu	37	1	117560035	117560035	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:117560035C>T	uc010oxb.1	+	4	1610	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	CD101_uc009whd.3_Missense_Mutation_p.R518W|CD101_uc010oxc.1_Missense_Mutation_p.R518W|CD101_uc010oxd.1_Missense_Mutation_p.R456W	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	518	Ig-like C2-type 4.		R -> Q (in dbSNP:rs17235766).		cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAGAAGTCTCGGAACCAGGC	0.483000														24			24		0	0	0.003330	0	0
DDR2	4921	broad.mit.edu	37	1	162725007	162725007	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:162725007T>C	uc001gcf.3	+	6	944	c.479T>C	c.(478-480)gTa>gCa	p.V160A	DDR2_uc001gcg.3_Missense_Mutation_p.V160A	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	160	F5/8 type C.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCGCCCATTGTAGCCAGATTT	0.488000														53			26		0	0	0.006320	0	0
ALDOB	229	broad.mit.edu	37	9	104187203	104187203	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:104187203C>T	uc004bbk.2	-	7	1003	c.921G>A	c.(919-921)caG>caA	p.Q307Q		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	307					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.L306L(1)|p.L306M(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GTGCACTGGCCTGCAGGGCCC	0.542000														14			20		0	0	0.002299	0	0
ALK	238	broad.mit.edu	37	2	29416472	29416472	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:29416472C>T	uc002rmy.3	-	28	5433	c.4481G>A	c.(4480-4482)gGa>gAa	p.G1494E	ALK_uc010ymo.2_Missense_Mutation_p.G426E	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1494					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTTTCTGGATCCGTGGACCTT	0.527000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					51			43		0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52336155	52336155	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:52336155T>G	uc003xqu.4	-	13	1876	c.1775A>C	c.(1774-1776)aAc>aCc	p.N592T		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	592	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AAGAAACATGTTGGTCACAGC	0.458000														21			3		0	0	0.004672	0	0
OR1K1	392392	broad.mit.edu	37	9	125563215	125563215	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:125563215G>A	uc011lze.2	+	0	814	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GGCAGAGTGGGGCCGTGTGGC	0.597000														28			36		0	0	0.005524	0	0
WDR17	116966	broad.mit.edu	37	4	177067288	177067288	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:177067288C>T	uc003iuj.3	+	12	2047	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	WDR17_uc003ium.4_Missense_Mutation_p.L558F|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	582										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGAGGGAATTCTTTGCAGTGG	0.338000														60			34		0	0	0.007835	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548030	47548030	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:47548030G>A	uc001cqu.1	+	3	392	c.389G>A	c.(388-390)gGt>gAt	p.G130D		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	130						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						ACCCTGGATGGTTCTAAATGG	0.453000														20			21		0	0	0.001523	0	0
PTCRA	171558	broad.mit.edu	37	6	42890985	42890985	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:42890985C>T	uc021yzp.1	+	1	360	c.279C>T	c.(277-279)tcC>tcT	p.S93S	PTCRA_uc011duz.1_Missense_Mutation_p.P104L|PTCRA_uc010jxx.1_Missense_Mutation_p.P54L|PTCRA_uc010jxy.3_Silent_p.S68S|PTCRA_uc003osx.3_Silent_p.S93S|PTCRA_uc010jxz.3_Intron	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	93						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CCCATCTCTCCCTGCCTTCTG	0.612000														104			38		0	0	0.005524	0	0
CFH	3075	broad.mit.edu	37	1	196695951	196695951	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:196695951C>T	uc001gtj.4	+	13	2357	c.2117C>T	c.(2116-2118)tCc>tTc	p.S706F	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	706	Sushi 12.				complement activation, alternative pathway	extracellular space		p.S705F(1)|p.S706S(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGCTTTCTTCCCCTCCTTAT	0.383000														10			22		0	0	0.001882	0	0
PTPRN2	5799	broad.mit.edu	37	7	157874027	157874027	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:157874027G>A	uc003wno.3	-	10	1807	c.1686C>T	c.(1684-1686)gtC>gtT	p.V562V	PTPRN2_uc003wnp.3_Silent_p.V545V|PTPRN2_uc003wnq.3_Silent_p.V533V|PTPRN2_uc003wnr.3_Silent_p.V524V|PTPRN2_uc011kwa.2_Silent_p.V585V	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	562						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCACGTTTTGGACATTGGCGC	0.517000														34			36		0	0	0.008740	0	0
DSC2	1824	broad.mit.edu	37	18	28667695	28667695	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:28667695C>T	uc002kwl.4	-	5	1166	c.712G>A	c.(712-714)Gat>Aat	p.D238N	DSC2_uc002kwk.4_Missense_Mutation_p.D238N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	238	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGGTAGTTATCATTTTCATCC	0.333000														33			12		0	0	0.001368	0	0
PCDH15	65217	broad.mit.edu	37	10	55582720	55582720	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:55582720G>A	uc010qhy.1	-	34	5182	c.4787C>T	c.(4786-4788)cCa>cTa	p.P1596L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1591L|PCDH15_uc021pqz.1_Missense_Mutation_p.P1566L|PCDH15_uc010qhv.1_Missense_Mutation_p.P1586L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1549L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1520L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1591L|PCDH15_uc010qia.1_Missense_Mutation_p.P1569L|PCDH15_uc001jju.1_Missense_Mutation_p.P1589L|PCDH15_uc010qib.1_Missense_Mutation_p.P1566L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1589					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1596Y(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGTCTATTTGGAACTTTCCT	0.473000										HNSCC(58;0.16)				41			12		0	0	0.002450	0	0
ITGA8	8516	broad.mit.edu	37	10	15760852	15760852	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:15760852C>T	uc001ioc.1	-	1	256	c.256G>A	c.(256-258)Gat>Aat	p.D86N	ITGA8_uc010qcb.1_Missense_Mutation_p.D86N	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	86					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.P85P(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCACGATATCGGGCTGGCTG	0.577000														33			23		0	0	0.003330	0	0
ANO1	55107	broad.mit.edu	37	11	69972296	69972296	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:69972296C>T	uc001opj.3	+	9	1397	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.I336I|ANO1_uc010rqk.2_Silent_p.I99I	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	364					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ATGAAAACATCCCCAGGTAGG	0.602000														8			10		0	0	0.006214	0	0
AKAP8L	26993	broad.mit.edu	37	19	15512027	15512027	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:15512027G>A	uc002naw.1	-	4	849	c.750C>T	c.(748-750)ttC>ttT	p.F250F	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Silent_p.F189F|AKAP8L_uc002nay.1_Silent_p.F250F|AKAP8L_uc002naz.3_Silent_p.F98F	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	250						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCAAACCCGAAACCAAAGC	0.632000														61			83		0	0	0.003610	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519159	113519160	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:113519159_113519160CC>TT	uc010ljy.1	-	3	2018_2019	c.1987_1988GG>AA	c.(1987-1989)gga>AAa	p.G663K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	663					glycogen metabolic process	integral to membrane		p.G663G(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCTTGATTTTCCCTGACTTTCC	0.361000														37			57		0	0	0.004672	0	0
CPXM2	119587	broad.mit.edu	37	10	125528107	125528107	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:125528107C>T	uc001lhk.1	-	8	1559	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	412					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGCGTCTCCTCCACCAGGTGG	0.627000														32			35		0	0	0.003271	0	0
MTOR	2475	broad.mit.edu	37	1	11273516	11273516	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11273516G>A	uc001asd.3	-	20	3346	c.3225C>T	c.(3223-3225)atC>atT	p.I1075I		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1075				I -> S (in Ref. 2; AAC39933).	T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCATGTGTGGGATCAGCTGGG	0.488000														31			38		0	0	0.005524	0	0
TMCO3	55002	broad.mit.edu	37	13	114193764	114193764	+	Silent	SNP	C	T	T	rs145263082	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:114193764C>T	uc001vtu.4	+	9	1993	c.1632C>T	c.(1630-1632)atC>atT	p.I544I		NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	544						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCGAGGAGATCGCCACCTCCA	0.557000														14			13		0	0	0.001855	0	0
USP26	83844	broad.mit.edu	37	X	132160170	132160170	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:132160170G>A	uc011mvf.2	-	0	2131	c.2079C>T	c.(2077-2079)ccC>ccT	p.P693P	USP26_uc010nrm.1_Silent_p.P693P	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	693					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTGGATTTTCGGGCACTGTTT	0.383000														19			31		0	0	0.001786	0	0
PLCG2	5336	broad.mit.edu	37	16	81925159	81925159	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:81925159C>T	uc002fgt.3	+	10	1128	c.950C>T	c.(949-951)cCc>cTc	p.P317L	PLCG2_uc010chg.1_Missense_Mutation_p.P317L	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	317	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGAACAACCCCCTGTCTCAT	0.512000														9			12		0	0	0.000978	0	0
OR2W5	441932	broad.mit.edu	37	1	247655000	247655000	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:247655000G>A	uc001icz.2	+	0	631	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCTTGTGAGGAAACCATGCT	0.577000														82			17		0	0	0.006122	0	0
TDG	6996	broad.mit.edu	37	12	104376612	104376612	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:104376612C>T	uc001tkg.3	+	4	737	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	TDG_uc009zuk.3_Nonsense_Mutation_p.Q168*|TDG_uc010swi.2_Nonsense_Mutation_p.Q29*|TDG_uc010swj.2_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	172					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CAGTGAGGTCCAGCTGAACCA	0.448000								Base excision repair (BER), DNA glycosylases						55			30		0	0	0.001786	0	0
CCDC147	159686	broad.mit.edu	37	10	106118186	106118186	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:106118186G>A	uc001kyh.3	+	1	231	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA.	33										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTTTCTGGAGACAAAAGTTT	0.378000														13			13		0	0	0.001368	0	0
OR8B4	283162	broad.mit.edu	37	11	124294693	124294693	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:124294693G>A	uc010sak.2	-	0	75	c.75C>T	c.(73-75)ctC>ctT	p.L25L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGAAAAGAGGGAGCTGGAGCT	0.483000														12			22		0	0	0.002299	0	0
GRM3	2913	broad.mit.edu	37	7	86394825	86394825	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:86394825G>A	uc003uid.3	+	1	1463	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	GRM3_uc010lef.3_Missense_Mutation_p.E120K|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	122					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAAAGTGGATGAAGCTGAGTA	0.433000														66			15		0	0	0.004007	0	0
PKP2	5318	broad.mit.edu	37	12	33031217	33031217	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:33031217G>A	uc001rlj.4	-	2	712	c.597C>T	c.(595-597)atC>atT	p.I199I	PKP2_uc001rlk.4_Silent_p.I199I|PKP2_uc010skj.2_Silent_p.I199I	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	199					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.I199I(2)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGACCCCCACGATCTCGGAAC	0.597000														41			15		0	0	0.004990	0	0
VIL1	7429	broad.mit.edu	37	2	219289047	219289047	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:219289047C>T	uc002vib.3	+	1	145	c.123C>T	c.(121-123)ttC>ttT	p.F41F	VIL1_uc010zke.2_Intron|VIL1_uc002via.3_Silent_p.F41F|VIL1_uc002vic.1_Silent_p.F41F	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	41	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGCTTCTTCGATGGTGACT	0.592000														79			25		0	0	0.005443	0	0
ABCC6	368	broad.mit.edu	37	16	16263549	16263549	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:16263549C>T	uc002den.4	-	21	2986	c.2949G>A	c.(2947-2949)caG>caA	p.Q983Q	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	983	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCAGGGCTGCCTGCGTCTGCT	0.667000														7			9		0	0	0.000978	0	0
KRT73	319101	broad.mit.edu	37	12	53011970	53011970	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:53011970G>A	uc001sas.3	-	0	374	c.339C>T	c.(337-339)ctC>ctT	p.L113L		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	113	Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGGGTGCCAGGAGGCTCTTGT	0.597000														64			23		0	0	0.003954	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8670023	8670023	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:8670023G>A	uc002mkj.1	-	3	583	c.309C>T	c.(307-309)tcC>tcT	p.S103S	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	103					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						AGTACTCCACGGAGACGTGCC	0.687000														6			15		0	0	0.002450	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518063	84518063	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:84518063G>A	uc010ffz.1	+	0	258	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		ACTCTCAGCCGAAAAGTATAG	0.498000														40			10		0	0	0.006214	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907738	164907738	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:164907738C>T	uc003fej.4	-	1	1325	c.881G>A	c.(880-882)gGa>gAa	p.G294E	SLITRK3_uc003fek.3_Missense_Mutation_p.G294E|SLITRK3_uc021xgy.1_Missense_Mutation_p.G294E	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	294						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATGTGGAATTCCCAAACTAGC	0.453000										HNSCC(40;0.11)				58			14		0	0	0.003163	0	0
TBC1D5	9779	broad.mit.edu	37	3	17226675	17226675	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:17226675G>A	uc010hev.3	-	20	2108	c.1844C>T	c.(1843-1845)tCc>tTc	p.S615F	TBC1D5_uc010heu.3_Missense_Mutation_p.S180F|TBC1D5_uc003cbf.3_Missense_Mutation_p.S593F|TBC1D5_uc003cbe.3_Missense_Mutation_p.S593F|TBC1D5_uc010hew.1_Missense_Mutation_p.S567F	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	593						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGAAGGAAGGAAATTTGGGC	0.368000														23			23		0	0	0.003954	0	0
C4orf22	255119	broad.mit.edu	37	4	81866048	81866048	+	Silent	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:81866048T>A	uc010ijp.3	+	5	661	c.612T>A	c.(610-612)ctT>ctA	p.L204L	C4orf22_uc003hmf.3_Silent_p.L187L	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	187										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						AAGGCTTACTTTTCAGATACA	0.333000														36			30		0	0	0.002096	0	0
RTN1	6252	broad.mit.edu	37	14	60193865	60193865	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:60193865G>A	uc001xen.1	-	2	1746	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	RTN1_uc001xem.1_Missense_Mutation_p.R93W	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	513					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGGCCCCGCCGGCTTGGCGCA	0.726000														2			6		0	0	0.001984	0	0
PLCB1	23236	broad.mit.edu	37	20	8678391	8678391	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:8678391C>T	uc002wnb.3	+	10	1131	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	PLCB1_uc010zrb.1_Silent_p.I275I|PLCB1_uc002wna.3_Silent_p.I376I|PLCB1_uc002wnc.1_Silent_p.I275I	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	376	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACCTGTCATCACCCATGGCT	0.478000														37			17		0	0	0.006122	0	0
MGAM	8972	broad.mit.edu	37	7	141799479	141799479	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:141799479C>T	uc003vwy.3	+	43	5182	c.5128C>T	c.(5128-5130)Cat>Tat	p.H1710Y		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1710	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CATTAATCTTCATGTCCGTGG	0.498000														41			10		0	0	0.006214	0	0
EPHB1	2047	broad.mit.edu	37	3	134670506	134670506	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:134670506C>T	uc003eqt.3	+	2	792	c.417C>T	c.(415-417)acC>acT	p.T139T	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Silent_p.T139T	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	139						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AAGTAGACACCATTGCTGCAG	0.502000														65			60		0	0	0.003610	0	0
MYH8	4626	broad.mit.edu	37	17	10315965	10315965	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:10315965C>T	uc002gmm.2	-	12	1323	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	410	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TACTCATTGCCAACCTTGACC	0.502000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					49			72		0	0	0.003610	0	0
ADAM20	8748	broad.mit.edu	37	14	70990607	70990607	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:70990607G>A	uc021rvs.1	-	0	1018	c.1018C>T	c.(1018-1020)Cga>Tga	p.R340*	ADAM20_uc001xme.3_Nonsense_Mutation_p.R340*	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	290	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGTTGTAGTCGATTATTAAGG	0.348000														9			22		0	0	0.001882	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060224	35060224	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:35060224C>T	uc002xff.3	+	2	539	c.104C>T	c.(103-105)tCg>tTg	p.S35L	DLGAP4_uc010zvp.2_Missense_Mutation_p.S35L	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	35					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TACCTGCTGTCGCCCACGGAG	0.701000														53			12		0	0	0.003163	0	0
TAB2	23118	broad.mit.edu	37	6	149691193	149691193	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:149691193C>T	uc003qmj.3	+	1	238	c.60C>T	c.(58-60)ttC>ttT	p.F20F	TAB2_uc011eec.2_Intron|TAB2_uc010kia.1_Silent_p.F20F|TAB2_uc010kib.2_Silent_p.F20F|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	20	CUE.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GACAAAAATTCCCTGAAGTAC	0.373000														16			17		0	0	0.007413	0	0
MICALL1	85377	broad.mit.edu	37	22	38313740	38313740	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:38313740C>T	uc003aui.3	+	3	639	c.364C>T	c.(364-366)Ctt>Ttt	p.L122F		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	122						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CAGAAAGGGCCTTGCACCCTG	0.612000														46			34		0	0	0.003214	0	0
ST14	6768	broad.mit.edu	37	11	130068280	130068280	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:130068280G>A	uc001qfw.3	+	12	1730	c.1537G>A	c.(1537-1539)Gac>Aac	p.D513N		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	513	LDL-receptor class A 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGTGTGAACGACTGCGGAGA	0.662000														8			34		0	0	0.005524	0	0
ABCC2	1244	broad.mit.edu	37	10	101601754	101601754	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:101601754G>A	uc001kqf.2	+	25	3784	c.3645G>A	c.(3643-3645)ggG>ggA	p.G1215G		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	1215	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGCTGGTTGGGAACCTGACTG	0.493000														34			48		0	0	0.003610	0	0
ERCC6	2074	broad.mit.edu	37	10	50740841	50740841	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:50740841G>A	uc001jhs.4	-	1	324	c.170C>T	c.(169-171)tCt>tTt	p.S57F	ERCC6_uc009xoe.3_Missense_Mutation_p.S57F|ERCC6_uc001jhu.3_Missense_Mutation_p.S57F	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	57					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCCACAGCAGAGGTGGACAG	0.577000								Direct reversal of damage;Nucleotide excision repair (NER)						22			7		0	0	0.001984	0	0
BIRC6	57448	broad.mit.edu	37	2	32710714	32710715	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:32710714_32710715GG>AT	uc010ezu.3	+	39	7835_7836	c.7701_7702GG>AT	c.(7699-7704)ctggat>ctATat	p.D2568Y		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2568					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTGTAGCCCTGGATGCTCGCCT	0.386000														27			5		0	0	0.004672	0	0
ZNF117	51351	broad.mit.edu	37	7	64439054	64439054	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:64439054G>A	uc003ttr.2	-	3	2180	c.895C>T	c.(895-897)Cat>Tat	p.H299Y		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	299						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTCCACTATGAATTCTCTTA	0.358000														19			6		0	0	0.001168	0	0
PTPRT	11122	broad.mit.edu	37	20	40743863	40743863	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:40743863G>A	uc002xkg.3	-	21	3259	c.3075C>T	c.(3073-3075)gtC>gtT	p.V1025V	PTPRT_uc010ggj.3_Silent_p.V1044V|PTPRT_uc010ggi.3_Silent_p.V228V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1025	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGGTGCGTATGACGTATTCTG	0.522000														58			48		0	0	0.003610	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41038922	41038922	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:41038922G>A	uc003jmj.4	-	20	2620	c.2130C>T	c.(2128-2130)ctC>ctT	p.L710L	HEATR7B2_uc003jmi.4_Silent_p.L265L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	710							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGGGAGCATGGAGGGCCACTG	0.473000														22			17		0	0	0.006122	0	0
PPP1R3B	79660	broad.mit.edu	37	8	8998783	8998783	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:8998783G>A	uc022arp.1	-	0	379	c.379C>T	c.(379-381)Cga>Tga	p.R127*	PPP1R3B_uc003wsn.4_Nonsense_Mutation_p.R127*|PPP1R3B_uc003wso.4_Nonsense_Mutation_p.R127*	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	127	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		GCCTGAAGTCGATTTCTAAAG	0.502000														34			22		0	0	0.001882	0	0
PEX5	5830	broad.mit.edu	37	12	7362423	7362423	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:7362423C>T	uc009zfu.2	+	15	2285	c.1705C>T	c.(1705-1707)Ctc>Ttc	p.L569F	PEX5_uc001qsw.3_Missense_Mutation_p.L569F|PEX5_uc010sgc.2_Missense_Mutation_p.L584F|PEX5_uc001qsu.3_Missense_Mutation_p.L532F|PEX5_uc010sgd.2_Missense_Mutation_p.L590F|PEX5_uc001qsv.3_Missense_Mutation_p.L561F	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	569					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						CTGCATCAACCTCGGGGCTCA	0.522000														14			22		0	0	0.003330	0	0
VPS18	57617	broad.mit.edu	37	15	41191361	41191361	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:41191361C>T	uc001zne.3	+	3	684	c.345C>T	c.(343-345)gcC>gcT	p.A115A		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	115					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGCTGATTGCCCTGAGCAGCA	0.627000														23			10		0	0	0.008291	0	0
ZNF335	63925	broad.mit.edu	37	20	44598277	44598277	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:44598277G>A	uc002xqw.3	-	2	378	c.255C>T	c.(253-255)ctC>ctT	p.L85L	ZNF335_uc010zxk.2_Intron|ZNF335_uc002xqx.1_Silent_p.L53L|ZNF335_uc002xqy.3_5'Flank	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGAATCAGGGAGGTAGCTAT	0.582000											OREG0025987	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		112			28		0	0	0.002445	0	0
OR13C3	138803	broad.mit.edu	37	9	107298654	107298654	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:107298654C>T	uc004bcb.1	-	0	441	c.441G>A	c.(439-441)atG>atA	p.M147I		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M147I(4)		endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CAAATGCCATCATGCCAAGAA	0.463000														35			45		0	0	0.003214	0	0
CNGB1	1258	broad.mit.edu	37	16	57945663	57945663	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:57945663C>T	uc002emt.2	-	24	2551	c.2486G>A	c.(2485-2487)gGa>gAa	p.G829E	CNGB1_uc010cdh.2_Missense_Mutation_p.G823E	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	829					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCACCTGTTTCCCACGCCATC	0.542000														21			20		0	0	0.001882	0	0
CLTC	1213	broad.mit.edu	37	17	57758286	57758286	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:57758286C>T	uc002ixr.1	+	18	3388	c.2945C>T	c.(2944-2946)gCt>gTt	p.A982V	CLTC_uc002ixp.3_Missense_Mutation_p.A978V|CLTC_uc002ixq.1_Missense_Mutation_p.A978V	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	978	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTACAAACAGCTTTGTCTGAG	0.388000			T	"""ALK, TFE3"""	"""ALCL, renal """									25			64		0	0	0.003610	0	0
PAH	5053	broad.mit.edu	37	12	103234196	103234196	+	Silent	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:103234196A>G	uc001tjq.1	-	11	1770	c.1297T>C	c.(1297-1299)Ttg>Ctg	p.L433L		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	433					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAATCAGCCAAAATCTTAAGC	0.453000														42			8		0	0	0.004482	0	0
PTX4	390667	broad.mit.edu	37	16	1537890	1537891	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:1537890_1537891GG>AA	uc010uvf.2	-	1	207_208	c.207_208CC>TT	c.(205-210)gtccgg>gtTTgg	p.R70W		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	75						extracellular region	metal ion binding	p.R70L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTCCGGAACCGGACGTCAACGT	0.619000														78			22		0	0	0.004672	0	0
NOX1	27035	broad.mit.edu	37	X	100125714	100125714	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:100125714G>A	uc004egj.3	-	1	341	c.135C>T	c.(133-135)atC>atT	p.I45I	NOX1_uc004egl.4_Silent_p.I45I|NOX1_uc010nne.3_Silent_p.I45I	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	45					FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TCACCCCAAGGATTTTTCTTG	0.418000														35			47		0	0	0.003610	0	0
ODZ3	55714	broad.mit.edu	37	4	183659578	183659578	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:183659578C>T	uc003ivd.1	+	16	3335	c.3260C>T	c.(3259-3261)tCg>tTg	p.S1087L	ODZ3_uc003ive.1_Missense_Mutation_p.S493L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1087					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GAGTATGAGTCGTGTTTGGAC	0.433000														154			113		0	0	0.003610	0	0
PHF8	23133	broad.mit.edu	37	X	53965627	53965627	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:53965627G>A	uc004dsu.3	-	21	3393	c.3147C>T	c.(3145-3147)atC>atT	p.I1049I	PHF8_uc004dsv.3_Silent_p.I879I|PHF8_uc004dst.3_Silent_p.I1013I|PHF8_uc004dsw.3_Silent_p.I912I	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	1049					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGATTTTCAGGATACGGCCGA	0.542000														22			36		0	0	0.006230	0	0
FCRL5	83416	broad.mit.edu	37	1	157514089	157514089	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:157514089G>A	uc009wsm.3	-	4	965	c.807C>T	c.(805-807)gtC>gtT	p.V269V	FCRL5_uc001fqu.3_Silent_p.V269V|FCRL5_uc010phv.1_Silent_p.V269V|FCRL5_uc010phw.1_Silent_p.V184V|FCRL5_uc001fqv.1_Silent_p.V269V|FCRL5_uc010phx.2_Silent_p.V20V	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	269	Ig-like C2-type 2.		V -> I (in dbSNP:rs12036228).			integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTCAGATATGACGCTGTAAG	0.507000														123			36		0	0	0.003214	0	0
LHPP	64077	broad.mit.edu	37	10	126172829	126172829	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:126172829C>T	uc001lhs.2	+	1	338	c.247C>T	c.(247-249)Ccg>Tcg	p.P83S	LHPP_uc001lht.2_Missense_Mutation_p.P83S|LHPP_uc009yai.2_Missense_Mutation_p.P83S	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	Homo sapiens phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP), transcript variant 1, mRNA.	83					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		GGTGACCGCCCCGGCACCAGC	0.632000														39			4		0	0	0.001168	0	0
CDKL1	8814	broad.mit.edu	37	14	50796864	50796864	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:50796864G>A	uc001wxz.3	-	8	1058	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	ATP5S_uc010ant.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	334						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					AAGCTGGAAGGATGCTGCTGC	0.353000														8			15		0	0	0.003163	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153309709	153309709	+	Silent	SNP	G	A	A	rs140665438		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:153309709G>A	uc001fbo.3	-	7	956	c.891C>T	c.(889-891)acC>acT	p.T297T	PGLYRP4_uc001fbp.3_Silent_p.T293T	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	297	Interaction with murein.				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGTAGCCAGGGGTGGAGGAGC	0.542000														18			22		0	0	0.001882	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821216	5821216	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:5821216C>T	uc010ndi.3	-	5	2078	c.1614G>A	c.(1612-1614)atG>atA	p.M538I	NLGN4X_uc004crp.3_Missense_Mutation_p.M521I|NLGN4X_uc010ndh.3_Missense_Mutation_p.M501I|NLGN4X_uc004crq.3_Missense_Mutation_p.M501I|NLGN4X_uc004crr.3_Missense_Mutation_p.M501I|NLGN4X_uc010ndj.3_Missense_Mutation_p.M501I	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	501					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGACCGATCATGGGGATGC	0.532000														13			35		0	0	0.004289	0	0
VCAM1	7412	broad.mit.edu	37	1	101186235	101186235	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:101186235G>A	uc001dti.3	+	1	489	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	VCAM1_uc010ouj.2_Intron|VCAM1_uc001dtj.3_Missense_Mutation_p.E90K	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	90	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTTTGGGAACGAACACTCTTA	0.423000														18			5		0	0	0.000602	0	0
THEMIS	387357	broad.mit.edu	37	6	128150684	128150684	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:128150684G>A	uc011ebt.2	-	2	795	c.646C>T	c.(646-648)Cct>Tct	p.P216S	THEMIS_uc010kfa.3_Missense_Mutation_p.P119S|THEMIS_uc021zfa.1_Missense_Mutation_p.P216S|THEMIS_uc010kfb.3_Missense_Mutation_p.P181S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	216	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AAGTCTTTAGGAAATGGATTC	0.363000														20			22		0	0	0.002780	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974684	21974684	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:21974684G>A	uc003zpk.3	-	0	449	c.143C>T	c.(142-144)cCg>cTg	p.P48L	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Missense_Mutation_p.P48L|CDKN2A_uc010miu.3_Missense_Mutation_p.P48L|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.P48L(18)|p.P48R(2)|p.V28_V51del(2)|p.P48P(1)|p.0(1)|p.R47fs(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTGGATCGGCCTCCGACC	0.677000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				70			134		0	0	0.003610	0	0
SMUG1	23583	broad.mit.edu	37	12	54577461	54577461	+	Silent	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:54577461A>C	uc001sfg.2	-	2	411	c.264T>G	c.(262-264)ccT>ccG	p.P88P	SMUG1_uc001sfa.1_5'Flank|SMUG1_uc009znf.2_Silent_p.P88P|SMUG1_uc001sff.2_Silent_p.P88P|SMUG1_uc001sfc.4_Silent_p.P88P|SMUG1_uc001sfb.4_Silent_p.P88P|SMUG1_uc001sfd.4_Silent_p.P88P|SMUG1_uc021qyn.1_Silent_p.P88P|SMUG1_uc001sfe.2_Silent_p.P88P	NM_001243787	NP_001230716	Q53HV7	SMUG1_HUMAN	Homo sapiens single-strand-selective monofunctional uracil-DNA glycosylase 1 (SMUG1), transcript variant 2, mRNA.	88				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						CCATGCCAAAAGGTCCAGGGT	0.587000								Base excision repair (BER), DNA glycosylases						31			12		0	0	0.001368	0	0
ABCC6P2	730013	broad.mit.edu	37	16	14916816	14916816	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:14916816G>A	uc002dcu.2	-	1	179	c.146C>T	c.(145-147)cCc>cTc	p.P49L						Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 2 (ABCC6P2), non-coding RNA.																		GAGGTAGATGGGACCAAGGAC	0.612000														20			18		0	0	0.004990	0	0
TGM7	116179	broad.mit.edu	37	15	43571345	43571345	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:43571345G>A	uc001zrf.1	-	10	1814	c.1809C>T	c.(1807-1809)atC>atT	p.I603I		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	603					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GCTCCAGACAGATATCTTTTA	0.552000														14			3		0	0	0.004672	0	0
DNAH5	1767	broad.mit.edu	37	5	13793757	13793757	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:13793757G>A	uc003jfd.2	-	48	8133	c.8091C>T	c.(8089-8091)atC>atT	p.I2697I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2697	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGATGTCCACGATGCTGGTGA	0.448000									Kartagener syndrome					28			41		0	0	0.003610	0	0
METTL24	728464	broad.mit.edu	37	6	110620283	110620283	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:110620283G>A	uc010kdu.1	-	3	628	c.628C>T	c.(628-630)Cct>Tct	p.P210S	METTL24_uc003pub.2_Missense_Mutation_p.P13S	NM_001123364	NP_001116836	Q5JXM2	CF186_HUMAN	Homo sapiens chromosome 6 open reading frame 186 (C6orf186), mRNA.	210						extracellular region											TTGACACTAGGATCAAAACGA	0.478000														11			37		0	0	0.002522	0	0
KRT4	3851	broad.mit.edu	37	12	53202523	53202523	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:53202523C>T	uc001saz.3	-	4	1168	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	316						keratin filament	structural molecule activity	p.Y389Y(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GCAATCTCCTCGTACTGGGCA	0.592000														28			6		0	0	0.001984	0	0
C4orf37	285555	broad.mit.edu	37	4	99064228	99064228	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:99064228G>A	uc003htt.2	-	0	164	c.74C>T	c.(73-75)tCc>tTc	p.S25F		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	25										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		TACCTGGTAGGATCCAGGACC	0.597000											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			7		0	0	0.006214	0	0
MASP1	5648	broad.mit.edu	37	3	186938850	186938850	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:186938850C>T	uc003frh.2	-	14	2272	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N		NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	628	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CAGATCATGTCCCTGGTCACT	0.547000														15			11		0	0	0.001368	0	0
MYH2	4620	broad.mit.edu	37	17	10427974	10427974	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:10427974G>A	uc010coi.3	-	34	5112	c.4984C>T	c.(4984-4986)Cac>Tac	p.H1662Y	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.H1662Y|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1662					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCATCCAGGTGGATCTGGGTA	0.552000														17			21		0	0	0.001523	0	0
KIAA0753	9851	broad.mit.edu	37	17	6531816	6531816	+	Silent	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:6531816A>G	uc002gde.4	-	2	698	c.339T>C	c.(337-339)ttT>ttC	p.F113F	KIAA0753_uc010clo.3_5'UTR|KIAA0753_uc010vte.2_5'UTR	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	113						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TATGTTTTTCAAATTGTCTTC	0.428000														14			21		0	0	0.001882	0	0
ZMYND11	10771	broad.mit.edu	37	10	267225	267225	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:267225C>T	uc010pzu.2	+	3	708	c.367C>T	c.(367-369)Cat>Tat	p.H123Y	ZMYND11_uc001ifk.3_Missense_Mutation_p.H123Y|ZMYND11_uc010pzv.2_Intron|ZMYND11_uc010pzw.2_Intron|ZMYND11_uc001ifm.3_Intron|ZMYND11_uc010pzx.2_Missense_Mutation_p.H123Y|ZMYND11_uc001ifn.3_Intron|ZMYND11_uc009xhg.3_Missense_Mutation_p.H106Y|ZMYND11_uc010pzy.2_Intron|ZMYND11_uc009xhh.3_Intron	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	Homo sapiens zinc finger, MYND-type containing 11 (ZMYND11), transcript variant 1, mRNA.	83					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGTGTGTATCATTCCAAGTG	0.453000														48			42		0	0	0.006999	0	0
FLT1	2321	broad.mit.edu	37	13	29012444	29012444	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:29012444G>A	uc001usb.3	-	3	712	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FLT1_uc010aar.1_Missense_Mutation_p.P143S|FLT1_uc001usc.3_Missense_Mutation_p.P143S|FLT1_uc010tdp.1_Missense_Mutation_p.P143S	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	143					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATAATTTCGGGGATTTCACTG	0.373000														12			7		0	0	0.003080	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907736	164907736	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:164907736T>A	uc003fej.4	-	1	1327	c.883A>T	c.(883-885)Att>Ttt	p.I295F	SLITRK3_uc003fek.3_Missense_Mutation_p.I295F|SLITRK3_uc021xgy.1_Missense_Mutation_p.I295F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	295						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAATGTGGAATTCCCAAACTA	0.453000										HNSCC(40;0.11)				58			15		0	0	0.003163	0	0
TNR	7143	broad.mit.edu	37	1	175375474	175375474	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:175375474G>A	uc001gkp.1	-	0	458	c.377C>T	c.(376-378)cCa>cTa	p.P126L	TNR_uc009wwu.1_Missense_Mutation_p.P126L|TNR_uc010pmz.1_Missense_Mutation_p.P126L	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	126					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACTGGCACATGGACAGGCCTT	0.592000														35			25		0	0	0.005443	0	0
FRMPD2	143162	broad.mit.edu	37	10	49386175	49386175	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:49386175G>A	uc001jgi.3	-	21	3141	c.2810C>T	c.(2809-2811)cCt>cTt	p.P937L	FRMPD2_uc001jgh.3_Missense_Mutation_p.P905L|FRMPD2_uc001jgj.3_Missense_Mutation_p.P906L|FRMPD2_uc001jgf.3_5'Flank|FRMPD2_uc001jgg.3_5'Flank|FRMPD2_uc001jgk.3_5'UTR	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	937					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGGTGATGGAGGACAAGAAGA	0.428000														6			7		0	0	0.008291	0	0
CLEC4F	165530	broad.mit.edu	37	2	71044171	71044171	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:71044171G>A	uc002shf.3	-	3	419	c.342C>T	c.(340-342)tcC>tcT	p.S114S	CLEC4F_uc010yqv.1_Silent_p.S114S	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	114					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCCAGGCACTGGAATTCTCCA	0.502000														29			29		0	0	0.007291	0	0
CR1	1378	broad.mit.edu	37	1	207739232	207739232	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:207739232G>A	uc001hfy.3	+	15	2706	c.2566G>A	c.(2566-2568)Gaa>Aaa	p.E856K	CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.E1306K|CR1_uc021pij.1_Missense_Mutation_p.E856K|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	856	Sushi 13.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GGCTGGAATGGAAAGCCTTTG	0.418000														92			23		0	0	0.005443	0	0
PRDM9	56979	broad.mit.edu	37	5	23527765	23527765	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:23527765G>A	uc003jgo.3	+	10	2750	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	856					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.T855K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACACACAGGGGAGAAGCCCT	0.587000										HNSCC(3;0.000094)				94			27		0	0	0.006320	0	0
ADTRP	84830	broad.mit.edu	37	6	11778902	11778902	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:11778902C>T	uc011dip.2	-	0	379	c.91G>A	c.(91-93)Gag>Aag	p.E31K	ADTRP_uc003nab.3_Missense_Mutation_p.E31K	NM_001143948	NP_001137420	Q96IZ2	CF105_HUMAN	Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA.	31						integral to membrane		p.E31*(1)									GGTTTCACCTCGTCTTTTCCT	0.433000														127			51		0	0	0.003610	0	0
GALNT1	2589	broad.mit.edu	37	18	33269215	33269215	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:33269215G>A	uc010dmu.3	+	6	992	c.939G>A	c.(937-939)atG>atA	p.M313I	GALNT1_uc002kyz.4_Missense_Mutation_p.M253I|GALNT1_uc002kzb.3_Missense_Mutation_p.M313I	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	313	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ATGCTGGAATGGATATTTGGG	0.338000														35			21		0	0	0.002299	0	0
HERC1	8925	broad.mit.edu	37	15	63966647	63966647	+	Silent	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:63966647T>G	uc002amp.3	-	37	7888	c.7740A>C	c.(7738-7740)atA>atC	p.I2580I		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2580					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATGCTCTCTTTATGGGTGACC	0.488000														25			8		0	0	0.004482	0	0
IRF5	3663	broad.mit.edu	37	7	128582311	128582311	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:128582311G>A	uc003voh.3	+	1	297	c.176G>A	c.(175-177)gGa>gAa	p.G59E	IRF5_uc010llr.1_Missense_Mutation_p.G59E|IRF5_uc011kot.1_Missense_Mutation_p.G59E|IRF5_uc011kou.1_Missense_Mutation_p.G59E|IRF5_uc010lls.1_Missense_Mutation_p.G59E|IRF5_uc003vog.3_Missense_Mutation_p.G59E|IRF5_uc010llt.3_Missense_Mutation_p.G59E|IRF5_uc003voi.3_Missense_Mutation_p.G59E|IRF5_uc010llu.1_Missense_Mutation_p.G59E|IRF5_uc003vok.2_Missense_Mutation_p.G59E|IRF5_uc003voj.4_Missense_Mutation_p.G59E|IRF5_uc010llv.1_Missense_Mutation_p.G59E|IRF5_uc010llw.1_Missense_Mutation_p.G59E	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	59					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCCAGGACGGAGATAACACC	0.582000														36			7		0	0	0.004482	0	0
TEX11	56159	broad.mit.edu	37	X	69826839	69826839	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:69826839C>T	uc004dyl.3	-	23	2127	c.1965G>A	c.(1963-1965)atG>atA	p.M655I	TEX11_uc004dyk.3_Missense_Mutation_p.M330I|TEX11_uc004dym.3_Missense_Mutation_p.M640I	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	655							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ACTCTCTCATCATCACTGGAT	0.308000														13			11		0	0	0.001855	0	0
SERPINA13	388007	broad.mit.edu	37	14	95108170	95108170	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:95108170C>T	uc001ydt.3	+	1	775	c.687C>T	c.(685-687)ctC>ctT	p.L229L						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						AGGGGAAGCTCGGGGCCTGGG	0.587000														47			44		0	0	0.003610	0	0
HCN1	348980	broad.mit.edu	37	5	45262159	45262159	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:45262159G>A	uc003jok.3	-	7	2562	c.2537C>T	c.(2536-2538)tCg>tTg	p.S846L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	846						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGCTCCCGACGACATCTGTCG	0.647000														54			30		0	0	0.002096	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518316	233518316	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:233518316G>A	uc001hvt.4	+	9	3231	c.2970G>A	c.(2968-2970)gaG>gaA	p.E990E	KIAA1804_uc001hvu.4_Silent_p.E436E	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	990					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CTGCCAAGGAGAGAACTAAAT	0.557000														22			6		0	0	0.003080	0	0
BAI3	577	broad.mit.edu	37	6	70064186	70064186	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:70064186C>T	uc010kak.3	+	25	3797	c.3521C>T	c.(3520-3522)tCg>tTg	p.S1174L	BAI3_uc003pev.4_Missense_Mutation_p.S1174L|BAI3_uc011dxx.2_Missense_Mutation_p.S380L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1174	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S1174S(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAGATTCTTCGAGTTCGTTT	0.393000														63			45		0	0	0.003610	0	0
PADI6	353238	broad.mit.edu	37	1	17725327	17725327	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:17725327C>T	uc001bak.1	+	15	1835	c.1835C>T	c.(1834-1836)cCa>cTa	p.P612L		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	604					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TTTGCGAGGCCATACTTCCCT	0.602000														25			16		0	0	0.001523	0	0
C12orf63	374467	broad.mit.edu	37	12	97078499	97078499	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:97078499C>T	uc021rcc.1	+	7	1143	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	355										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTCTCATCTTCGCAGAAAAGA	0.323000														35			49		0	0	0.003610	0	0
UTRN	7402	broad.mit.edu	37	6	144843240	144843240	+	Missense_Mutation	SNP	C	T	T	rs144099534		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:144843240C>T	uc003qkt.3	+	38	5758	c.5666C>T	c.(5665-5667)tCg>tTg	p.S1889L		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1889					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTTGAATTATCGCTTAATGTT	0.393000														26			53		0	0	0.003610	0	0
OR7G1	125962	broad.mit.edu	37	19	9226274	9226274	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9226274G>A	uc021uoi.1	-	0	166	c.166C>T	c.(166-168)Cac>Tac	p.H56Y	OR7G1_uc002mks.1_Missense_Mutation_p.H56Y	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ATGGGGGTGTGGAGGTGGGAG	0.483000														20			42		0	0	0.002852	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16852154	16852154	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:16852154G>A	uc002gqs.1	-	2	356	c.343C>T	c.(343-345)Cca>Tca	p.P115S	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.P69S	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	115					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						AGCTCTGGTGGAAGGTTCACT	0.527000									IgA Deficiency, Selective					32			62		0	0	0.003610	0	0
LILRB5	10990	broad.mit.edu	37	19	54760607	54760607	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:54760607C>T	uc010yer.1	-	2	211	c.100G>A	c.(100-102)Gag>Aag	p.E34K	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.E34K|LILRB5_uc002qez.3_Missense_Mutation_p.E34K|LILRB5_uc002qex.3_Missense_Mutation_p.E34K|LILRB5_uc002qfa.1_Missense_Mutation_p.E24K|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	34	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGGCTGGCTCAGCCCAGAGG	0.617000														25			29		0	0	0.001786	0	0
PSD2	84249	broad.mit.edu	37	5	139193016	139193016	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:139193016G>A	uc003leu.1	+	2	699	c.494G>A	c.(493-495)aGc>aAc	p.S165N		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	165					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGGGCTGAGCCTCACGGAT	0.652000														10			21		0	0	0.001523	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769651	31769651	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:31769651C>T	uc002nsy.4	-	1	1113	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	350					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A350T(1)|p.A350E(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGAAGTGCATCGTTGGTGTCT	0.567000														49			74		0	0	0.003610	0	0
HEATR4	399671	broad.mit.edu	37	14	73989442	73989442	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:73989442C>T	uc021rwe.1	-	2	763	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	HEATR4_uc021rwf.1_Missense_Mutation_p.E92K|HEATR4_uc010tub.1_Missense_Mutation_p.E139K	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCAGAGCTTTCTGTCTTCACA	0.557000														15			18		0	0	0.001882	0	0
AIRE	326	broad.mit.edu	37	21	45711070	45711070	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:45711070C>T	uc002zei.2	+	7	1099	c.972C>T	c.(970-972)tcC>tcT	p.S324S	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Silent_p.S127S|AIRE_uc010gpr.2_Silent_p.S127S	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	324					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		CCTGCCTGTCCCCTCCGCTCC	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					15			16		0	0	0.004007	0	0
FILIP1	27145	broad.mit.edu	37	6	76023074	76023074	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:76023074C>T	uc010kbe.3	-	5	3013	c.2483G>A	c.(2482-2484)cGg>cAg	p.R828Q	FILIP1_uc003phy.1_Missense_Mutation_p.R825Q|FILIP1_uc003phz.3_Missense_Mutation_p.R726Q|FILIP1_uc003pia.3_Missense_Mutation_p.R825Q|FILIP1_uc003pib.1_Missense_Mutation_p.R577Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	825										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAAGGATTTCCGTATGAATAC	0.463000														141			79		0	0	0.003610	0	0
PCLO	27445	broad.mit.edu	37	7	82545811	82545811	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:82545811G>A	uc003uhx.2	-	6	11780	c.11491C>T	c.(11491-11493)Cgt>Tgt	p.R3831C	PCLO_uc003uhv.2_Missense_Mutation_p.R3831C|PCLO_uc010lec.3_Missense_Mutation_p.R796C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3762	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3831C(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATGTAATCACGATCCTCAGCT	0.473000														28			53		0	0	0.003610	0	0
FGA	2243	broad.mit.edu	37	4	155508735	155508735	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:155508735C>T	uc003iod.1	-	3	497	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	FGA_uc003ioe.1_Missense_Mutation_p.E147K|FGA_uc003iof.1_Missense_Mutation_p.E147K	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	147					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGTACTTTTTCTATGACTTTG	0.418000														41			19		0	0	0.008871	0	0
SPIN1	10927	broad.mit.edu	37	9	91090126	91090126	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:91090126C>T	uc010mqj.3	+	5	1223	c.723C>T	c.(721-723)tcC>tcT	p.S241S	SPIN1_uc004apy.3_Silent_p.S241S|SPIN1_uc004apz.3_Silent_p.S241S|SPIN1_uc010mqk.3_Silent_p.S241S	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	Homo sapiens spindlin 1 (SPIN1), mRNA.	241					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						CCAAGCCCTCCGTCTATTTCA	0.413000														17			22		0	0	0.003330	0	0
SAMHD1	25939	broad.mit.edu	37	20	35545216	35545216	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:35545216C>T	uc002xgh.2	-	8	1171	c.971G>A	c.(970-972)gGa>gAa	p.G324E		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	324					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATTTTGGATTCCAAGATGATG	0.338000														128			93		0	0	0.003610	0	0
AGBL4	84871	broad.mit.edu	37	1	49056532	49056532	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:49056532G>A	uc010omx.1	-	9	1271	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	AGBL4_uc001cru.2_Silent_p.L359L|AGBL4_uc010omw.1_Silent_p.L92L|AGBL4_uc010omy.1_Silent_p.L182L|AGBL4_uc001crv.1_Silent_p.L212L	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	359					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CATTCTGGCAGAGGAGCTTGG	0.547000														3			4		0	0	0.000602	0	0
GBP6	163351	broad.mit.edu	37	1	89846169	89846169	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:89846169G>A	uc001dnf.2	+	5	1124	c.850G>A	c.(850-852)Gga>Aga	p.G284R	GBP6_uc010ost.1_Missense_Mutation_p.G154R	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	284							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CCTCAGGGAGGGAATCACAGT	0.403000														18			4		0	0	0.000602	0	0
AHSP	51327	broad.mit.edu	37	16	31539942	31539942	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:31539942C>T	uc002ecj.3	+	2	324	c.239C>T	c.(238-240)cCt>cTt	p.P80L		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	80					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CTGGCCAACCCTTTCCTGGCC	0.582000														19			12		0	0	0.001368	0	0
SLC7A11	23657	broad.mit.edu	37	4	139100404	139100404	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:139100404C>T	uc021xrw.1	-	10	1691	c.1411G>A	c.(1411-1413)Gac>Aac	p.D471N		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	471					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GGTTTCTTGTCCCATATAATA	0.418000														27			16		0	0	0.001882	0	0
HABP2	3026	broad.mit.edu	37	10	115343020	115343020	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:115343020G>A	uc001lai.4	+	9	1243	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	HABP2_uc021pyr.1_Silent_p.L354L|HABP2_uc010qrz.1_Non-coding_Transcript	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	380	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		ACCAGGACCTGAAGAAAGAAG	0.453000														48			13		0	0	0.004990	0	0
DLG2	1740	broad.mit.edu	37	11	84245709	84245709	+	Silent	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:84245709T>C	uc001paj.2	-	1	411	c.108A>G	c.(106-108)gtA>gtG	p.V36V	DLG2_uc010rsz.1_Silent_p.V36V|DLG2_uc010rta.1_Silent_p.V36V|DLG2_uc001pak.2_Silent_p.V141V|DLG2_uc001pal.1_Silent_p.V36V	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	36						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.E35E(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGGGCCTCTTACTTCGTGGG	0.408000														22			42		0	0	0.006999	0	0
ARL4A	10124	broad.mit.edu	37	7	12728360	12728360	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:12728360C>T	uc003ssp.3	+	1	787	c.481C>T	c.(481-483)Cct>Tct	p.P161S	ARL4A_uc003ssq.3_Missense_Mutation_p.P161S|ARL4A_uc021zzq.1_Missense_Mutation_p.P161S|ARL4A_uc003sss.3_Missense_Mutation_p.P161S|ARL4A_uc021zzr.1_Missense_Mutation_p.P161S	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA.	161					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		CTCATCAACTCCTTGGCATTT	0.388000														32			45		0	0	0.003610	0	0
ICA1	3382	broad.mit.edu	37	7	8167558	8167558	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:8167558G>T	uc003sro.4	-	12	1411	c.1275C>A	c.(1273-1275)ttC>ttA	p.F425L	ICA1_uc010ktr.3_Missense_Mutation_p.F454L|ICA1_uc003srm.3_Missense_Mutation_p.F425L|ICA1_uc003srn.4_Missense_Mutation_p.F351L|ICA1_uc003srq.3_Missense_Mutation_p.F425L|ICA1_uc003srr.3_Missense_Mutation_p.F424L|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	425					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GCGAAGGAAGGAAACCTGAGC	0.522000														178			33		2.19489e-29	3.38006e-29	0.006230	1	0
RFPL2	10739	broad.mit.edu	37	22	32590399	32590399	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:32590399G>A	uc003amg.3	-	2	1134	c.198C>T	c.(196-198)gcC>gcT	p.A66A	RFPL2_uc003ame.3_5'Flank|RFPL2_uc003amf.3_Intron|RFPL2_uc003amh.3_Intron	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	66							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTGGGGAAGGGGCACACGAGG	0.547000														14			7		0	0	0.003080	0	0
WBSCR17	64409	broad.mit.edu	37	7	71142229	71142229	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:71142229G>A	uc003tvy.3	+	8	1438	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	WBSCR17_uc003tvz.3_Missense_Mutation_p.D179N	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	480	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGTCTGCTTGGACCAGGGGCC	0.532000														82			105		0	0	0.003610	0	0
MUS81	80198	broad.mit.edu	37	11	65632505	65632505	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:65632505C>T	uc001ofv.4	+	12	1643	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	MUS81_uc001ofx.4_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	430					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		CCCTACGCAGCCGCCCCTGGG	0.637000								Homologous recombination						23			35		0	0	0.003755	0	0
MYO5C	55930	broad.mit.edu	37	15	52497106	52497106	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:52497106G>A	uc010bff.3	-	37	4938	c.4776C>T	c.(4774-4776)ttC>ttT	p.F1592F	MYO5C_uc010uga.2_Non-coding_Transcript|AF007131_uc002abv.3_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1592	Dilute.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCTTGCGCAGGAAGAGGCTGT	0.582000														8			6		0	0	0.001168	0	0
ANXA9	8416	broad.mit.edu	37	1	150960769	150960769	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:150960769C>T	uc001ewa.2	+	11	1274	c.804C>T	c.(802-804)atC>atT	p.I268I		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	268					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTCGGTGATCAAGAACACAC	0.512000														42			37		0	0	0.006999	0	0
TTN	7273	broad.mit.edu	37	2	179458165	179458165	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179458165T>A	uc021vsy.1	-	247	51291	c.51066A>T	c.(51064-51066)gaA>gaT	p.E17022D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E10717D|TTN_uc021vta.1_Missense_Mutation_p.E10650D|TTN_uc021vtb.1_Missense_Mutation_p.E10525D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17949	Fibronectin type-III 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGGTAACTTCTGTAACAA	0.363000														20			24		0	0	0.003954	0	0
S100A9	6280	broad.mit.edu	37	1	153330861	153330861	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:153330861G>A	uc001fbq.3	+	1	145	c.102G>A	c.(100-102)caG>caA	p.Q34Q		NM_002965	NP_002956	P06702	S10A9_HUMAN	Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA.	34	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCTGAACCAGGGGGAATTCA	0.517000														17			15		0	0	0.002450	0	0
PLCB2	5330	broad.mit.edu	37	15	40591081	40591081	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:40591081G>A	uc001zld.3	-	8	1069	c.768C>T	c.(766-768)tcC>tcT	p.S256S	PLCB2_uc010bbo.3_Silent_p.S256S|PLCB2_uc010ucm.2_Silent_p.S256S	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	256					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGAACAGCAGGGAGTTAAGCC	0.567000														30			18		0	0	0.002299	0	0
SRMS	6725	broad.mit.edu	37	20	62175640	62175640	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:62175640C>T	uc002yfi.1	-	1	459	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	140	SH2.						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)			GCCCCTGGTTCGTTGGGTGGG	0.672000														4			4		0	0	0.001168	0	0
AMBN	258	broad.mit.edu	37	4	71465260	71465260	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:71465260G>A	uc003hfl.3	+	4	292	c.191G>A	c.(190-192)aGa>aAa	p.R64K		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	64					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TAGTATTCTAGATACGGCTTT	0.328000														20			9		0	0	0.008291	0	0
ADAM2	2515	broad.mit.edu	37	8	39679182	39679182	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:39679182C>T	uc003xnj.3	-	5	343	c.268_splice	c.e5-1	p.N90_splice	ADAM2_uc003xnk.3_Splice_Site_p.N90_splice|ADAM2_uc011lck.2_Splice_Site_p.N90_splice|ADAM2_uc003xnl.3_Splice_Site_p.N90_splice	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	90					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGCAGAAATTCTGAAAGATAA	0.308000														12			6		0	0	0.001168	0	0
DNAH5	1767	broad.mit.edu	37	5	13931261	13931261	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:13931261C>T	uc003jfd.2	-	1	192	c.150G>A	c.(148-150)ctG>ctA	p.L50L	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	50	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D49N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGGTTTTGTTCAGGTCCAAAC	0.473000									Kartagener syndrome					13			35		0	0	0.005524	0	0
C18orf26	284254	broad.mit.edu	37	18	52265336	52265336	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:52265336C>T	uc002lfq.1	+	2	639	c.593C>T	c.(592-594)tCc>tTc	p.S198F		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	198	Thr-rich.					integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		GCCACCACTTCCACAGAACCT	0.453000														21			13		0	0	0.003163	0	0
CCDC141	285025	broad.mit.edu	37	2	179736979	179736979	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179736979C>T	uc002une.2	-	12	2078	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	CCDC141_uc002unf.1_Missense_Mutation_p.E133K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	79							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCTGGTTTTCCATGGTGTTC	0.423000														26			21		0	0	0.002299	0	0
MIR205HG	642587	broad.mit.edu	37	1	209602743	209602743	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:209602743C>T	uc009xcn.3	+	1	484	c.101C>T	c.(100-102)gCt>gTt	p.A34V	MIR205HG_uc010psk.2_5'Flank	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		GAACTGGGTGCTTTATATAGG	0.418000														9			9		0	0	0.000978	0	0
CCHCR1	54535	broad.mit.edu	37	6	31122388	31122388	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31122388C>T	uc003nsp.4	-	3	875	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	CCHCR1_uc011dne.2_Missense_Mutation_p.R140Q|CCHCR1_uc003nsq.4_Missense_Mutation_p.R193Q|CCHCR1_uc003nsr.4_Missense_Mutation_p.R140Q|CCHCR1_uc010jsk.1_Missense_Mutation_p.R140Q	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	140					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.R229W(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AGCCTCAGCTCGGCCGGCCTT	0.662000														144			149		0	0	0.003610	0	0
DIP2C	22982	broad.mit.edu	37	10	329246	329246	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:329246G>A	uc001ifp.3	-	34	4350	c.4260C>T	c.(4258-4260)ttC>ttT	p.F1420F	5S_rRNA_uc021pmi.1_5'Flank	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1420						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCTCCGCAGGAACCCCAAGT	0.547000														35			33		0	0	0.004289	0	0
DDR2	4921	broad.mit.edu	37	1	162731107	162731107	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:162731107C>T	uc001gcf.3	+	9	1427	c.962C>T	c.(961-963)cCc>cTc	p.P321L	DDR2_uc001gcg.3_Missense_Mutation_p.P321L	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	321					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P321L(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ATTTCCTTCCCCCTTGTCCTG	0.502000														22			6		0	0	0.003080	0	0
DYDC2	84332	broad.mit.edu	37	10	82122302	82122302	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:82122302C>T	uc001kca.1	+	2	483	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	DYDC2_uc001kbz.1_Non-coding_Transcript|DYDC2_uc001kcb.1_Missense_Mutation_p.H35Y	NM_032372	NP_115748	Q96IM9	DYDC2_HUMAN	Homo sapiens DPY30 domain containing 2 (DYDC2), mRNA.	35							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			ATACCTGGCTCACTGGCTTTA	0.498000														33			31		0	0	0.002445	0	0
NEK8	284086	broad.mit.edu	37	17	27064839	27064839	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:27064839A>T	uc002hcp.3	+	6	892	c.892A>T	c.(892-894)Atc>Ttc	p.I298F		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	298						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ACCTGCAGGTATCCCCCGGGG	0.617000														31			37		0	0	0.002852	0	0
PLXDC2	84898	broad.mit.edu	37	10	20436754	20436754	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:20436754G>A	uc001iqg.1	+	5	1343	c.706G>A	c.(706-708)Gat>Aat	p.D236N	PLXDC2_uc001iqh.1_Missense_Mutation_p.D187N|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	236						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACATCTCCAGGATAATTATAA	0.413000														25			25		0	0	0.004656	0	0
ALMS1	7840	broad.mit.edu	37	2	73717557	73717557	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:73717557C>T	uc002sje.1	+	9	8579	c.8468C>T	c.(8467-8469)cCc>cTc	p.P2823L	ALMS1_uc002sjf.1_Missense_Mutation_p.P2781L|ALMS1_uc002sjg.3_Missense_Mutation_p.P2211L|ALMS1_uc002sjh.1_Missense_Mutation_p.P2211L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2823					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTCTGAGCCCAGTACCAGG	0.403000														24			5		0	0	0.000602	0	0
OR51E2	81285	broad.mit.edu	37	11	4703590	4703590	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:4703590C>T	uc001lzk.2	-	1	596	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	OR51E2_uc021qcr.1_Missense_Mutation_p.A118T	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CGGTCAAAGGCCATGGCCAGC	0.537000														9			12		0	0	0.000978	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058541	152058541	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152058541G>A	uc001ezo.1	-	2	1682	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	539							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CACTCTGTGTGAATGGTGACT	0.527000														46			46		0	0	0.003214	0	0
LGALS9B	284194	broad.mit.edu	37	17	20355177	20355177	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:20355177G>A	uc002gxa.1	-	8	757	c.692C>T	c.(691-693)aCc>aTc	p.T231I	LGALS9B_uc002gwz.1_Missense_Mutation_p.T230I|LGALS9B_uc010vzh.1_Missense_Mutation_p.T143I	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	231	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						TCCCGGAATGGTGGTGATGAA	0.587000														5			7		0	0	0.006214	0	0
FAM41C	284593	broad.mit.edu	37	1	809712	809712	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:809712G>A	uc001abt.4	-	1		c.881C>T								Homo sapiens family with sequence similarity 41, member C (FAM41C), non-coding RNA.																		GGAGTATGCTGAGGAGGAGGT	0.493000														64			15		0	0	0.004007	0	0
LRRC43	254050	broad.mit.edu	37	12	122677530	122677530	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:122677530C>T	uc009zxm.3	+	6	1353	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L	LRRC43_uc001ubw.4_Missense_Mutation_p.P258L|LRRC43_uc009zxn.3_Missense_Mutation_p.P204L	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	443										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CGTATAGATCCCCGGCTCTGC	0.592000														7			13		0	0	0.002450	0	0
PTCHD2	57540	broad.mit.edu	37	1	11591051	11591051	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11591051G>A	uc001ash.4	+	15	3328	c.3190G>A	c.(3190-3192)Gag>Aag	p.E1064K		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1064					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCAACTCCGAGCTGGTGAA	0.612000														64			67		0	0	0.003610	0	0
NEK5	341676	broad.mit.edu	37	13	52660499	52660499	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:52660499C>T	uc001vge.3	-	16	1533	c.1393_splice	c.e16-1	p.E465_splice		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	465							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TTCCAATATTCCTGGAAAGCA	0.338000														17			27		0	0	0.001786	0	0
DNAH3	55567	broad.mit.edu	37	16	20970706	20970706	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:20970706C>T	uc010vbe.2	-	53	10621	c.10621G>A	c.(10621-10623)Gat>Aat	p.D3541N	DNAH3_uc010vbd.2_Missense_Mutation_p.D976N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3541	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATACCAAGATCATCAGCAAAC	0.478000														61			18		0	0	0.007413	0	0
CRNN	49860	broad.mit.edu	37	1	152382519	152382519	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152382519T>C	uc001ezx.2	-	2	1113	c.1039A>G	c.(1039-1041)Act>Gct	p.T347A		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	347	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGTGTGTCCTCCT	0.592000														128			4		0	0	0.000602	0	0
ATAD2	29028	broad.mit.edu	37	8	124384064	124384064	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:124384064G>A	uc003yqh.4	-	3	490	c.382C>T	c.(382-384)Cca>Tca	p.P128S	ATAD2_uc011lii.2_5'UTR|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.P128S	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGAGTAACTGGAATCACTTTG	0.308000														17			12		0	0	0.001368	0	0
C4orf50	389197	broad.mit.edu	37	4	5961349	5961349	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:5961349G>A	uc003git.2	-	6		c.1882C>T						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						CAAGGACAGAGGGAGCTGCAG	0.517000														20			8		0	0	0.004482	0	0
OR10H1	26539	broad.mit.edu	37	19	15917920	15917920	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:15917920G>C	uc002nbq.2	-	0	1017	c.928C>G	c.(928-930)Ctc>Gtc	p.L310V		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCTGGGTAGAGTTTACTGAAG	0.443000														9			27		0	0	0.006320	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18793432	18793432	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:18793432C>T	uc001rdt.3	+	30	4245	c.4129C>T	c.(4129-4131)Cgt>Tgt	p.R1377C	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1418C|PIK3C2G_uc010sic.2_Missense_Mutation_p.R1196C	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1377	C2.			R -> L (in Ref. 1; CAA03853).	cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAGTGAAGTTCGTAGGAGGAA	0.368000														1			14		0	0	0.002450	0	0
SAMD11	148398	broad.mit.edu	37	1	879473	879474	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:879473_879474GG>CA	uc001abw.1	+	13	2066_2067	c.1986_1987GG>CA	c.(1984-1989)caggag>caCAag	p.662_663QE>HK	SAMD11_uc001abx.1_Missense_Mutation_p.525_526QE>HK	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	662						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CACCCAAGCAGGAGAATGGGAC	0.649000														64			9		0	0	0.004672	0	0
ALS2	57679	broad.mit.edu	37	2	202593804	202593804	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:202593804A>G	uc002uyo.3	-	13	3039	c.2683T>C	c.(2683-2685)Ttc>Ctc	p.F895L	ALS2_uc002uyp.4_Missense_Mutation_p.F895L|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	895					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTCTTCCAGAAGCCCAGTGTG	0.433000														70			62		0	0	0.003610	0	0
UBIAD1	29914	broad.mit.edu	37	1	11346060	11346060	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:11346060G>A	uc001asg.3	+	1	1223	c.889G>A	c.(889-891)Gag>Aag	p.E297K		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	297					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		CTTCTCCCTTGAGAGACAGTT	0.557000														86			23		0	0	0.002780	0	0
abParts	0	broad.mit.edu	37	15	22473351	22473351	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:22473351C>T	uc001yuj.2	-	5		c.60G>A								Parts of antibodies, mostly variable regions.																		ACAGGTGTTTCATGTTCTTGT	0.512000														25			10		0	0	0.000978	0	0
TTI1	9675	broad.mit.edu	37	20	36612003	36612003	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:36612003G>A	uc002xhl.3	-	8	3334	c.3125C>T	c.(3124-3126)aCc>aTc	p.T1042I	TTI1_uc002xhm.3_Missense_Mutation_p.T1042I	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	1042							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GAGGAACCAGGTGGAGTCTGG	0.607000														33			11		0	0	0.001855	0	0
LTA	4049	broad.mit.edu	37	6	31541203	31541203	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31541203G>A	uc011dnu.1	+	3	564	c.351G>A	c.(349-351)ggG>ggA	p.G117G	LTA_uc003nue.1_Silent_p.G117G|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Intron|LTA_uc010jsr.3_Intron|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	117					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TCTTCTCTGGGAAAGCCTACT	0.577000														65			26		0	0	0.006320	0	0
MTTP	4547	broad.mit.edu	37	4	100534212	100534212	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:100534212G>A	uc011cej.2	+	14	2226	c.2213G>A	c.(2212-2214)aGt>aAt	p.S738N	MTTP_uc003hvc.4_Missense_Mutation_p.S711N	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	711					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AACGGATACAGTGATTTGATG	0.463000														38			23		0	0	0.002780	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272336	186272336	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:186272336G>A	uc003fqg.3	-	5	1380	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A	TBCCD1_uc011bry.2_Silent_p.A417A|TBCCD1_uc003fqh.3_Silent_p.A321A	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	417	C-CAP/cofactor C-like.				cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TATGAAAAGGGGCAAAAGTTA	0.473000														28			11		0	0	0.000978	0	0
KRT7	3855	broad.mit.edu	37	12	52639340	52639340	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:52639340G>A	uc001saa.1	+	6	1256	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	377	Coil 2.|Rod.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TGAGTACCAGGAACTCATGAG	0.637000														23			19		0	0	0.001523	0	0
PTPDC1	138639	broad.mit.edu	37	9	96863937	96863937	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:96863937G>A	uc010mrj.2	+	6	2205	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V	PTPDC1_uc004auf.2_Silent_p.V647V|PTPDC1_uc004aug.2_Silent_p.V642V|PTPDC1_uc004auh.2_Silent_p.V699V	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	647							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGTCTTGGGTGGAGCAACTGA	0.463000														21			52		0	0	0.003610	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058282	152058282	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152058282C>T	uc001ezo.1	-	2	1941	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	626							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GCAGGCTGTTCCTGGTCCTCT	0.567000														41			34		0	0	0.003755	0	0
FGFR4	2264	broad.mit.edu	37	5	176522568	176522568	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:176522568G>A	uc003mfl.3	+	12	1832	c.1665G>A	c.(1663-1665)aaG>aaA	p.K555K	FGFR4_uc003mfm.3_Silent_p.K555K|FGFR4_uc011dfu.2_Silent_p.K487K|FGFR4_uc003mfo.3_Silent_p.K515K	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	555	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCGCCGCCAAGGGAAACCTGC	0.706000										TSP Lung(9;0.080)				7			5		0	0	0.000602	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150178	39150178	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:39150178G>A	uc002hvr.1	-	0	208	c.172C>T	c.(172-174)Cct>Tct	p.P58S		NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN	Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.	58	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGGCTGAGGAATGTGGCAG	0.622000														13			50		0	0	0.003610	0	0
TLE4	7091	broad.mit.edu	37	9	82336705	82336705	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:82336705G>A	uc004ald.3	+	17	2812	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	TLE4_uc004alc.3_Missense_Mutation_p.D630N|TLE4_uc010mpr.3_Missense_Mutation_p.D509N|TLE4_uc004ale.3_Missense_Mutation_p.D267N|TLE4_uc011lsq.2_Missense_Mutation_p.D598N|TLE4_uc010mps.3_Missense_Mutation_p.D554N|TLE4_uc004alf.3_Missense_Mutation_p.D569N	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATTTCTAATGATGGCACCAA	0.527000														9			20		0	0	0.002299	0	0
KCNB1	3745	broad.mit.edu	37	20	47989816	47989816	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:47989816C>T	uc002xur.1	-	1	2447	c.2281G>A	c.(2281-2283)Gat>Aat	p.D761N	KCNB1_uc002xus.1_Missense_Mutation_p.D761N	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	761					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCTCATCATCTGTGTCTGCG	0.567000														229			64		0	0	0.003610	0	0
ATG4A	115201	broad.mit.edu	37	X	107377369	107377369	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:107377369C>T	uc004enr.3	+	4	533	c.375C>T	c.(373-375)tgC>tgT	p.C125C	ATG4A_uc004ens.3_Silent_p.C41C|ATG4A_uc011msl.2_Silent_p.C41C|ATG4A_uc010npi.3_Non-coding_Transcript|ATG4A_uc004ent.3_Silent_p.C125C	NM_052936	NP_443168	Q8WYN0	ATG4A_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog A (S. cerevisiae) (ATG4A), transcript variant 1, mRNA.	125					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AAGATTGTTGCTACTCTATCC	0.373000														10			17		0	0	0.007413	0	0
FBXO24	26261	broad.mit.edu	37	7	100187820	100187820	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100187820C>T	uc011kjz.1	+	2	344	c.276C>T	c.(274-276)ctC>ctT	p.L92L	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.L54L|FBXO24_uc003uvm.1_Silent_p.L54L|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Silent_p.L42L	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	54						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCTCATTCCTCCCAGTCAGAG	0.582000														9			7		0	0	0.006214	0	0
IBTK	25998	broad.mit.edu	37	6	82924513	82924513	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:82924513G>A	uc003pjl.1	-	11	2162	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	IBTK_uc011dyv.1_Silent_p.S545S|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.S239S|IBTK_uc003pjm.2_Silent_p.S545S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	545					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CTTCAAAAAAGGATGATGAGG	0.373000														19			31		0	0	0.003755	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390068	93390068	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:93390068G>A	uc001kho.3	-	1	702	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	190	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TCCAAGAATCGAAAGTGATAC	0.413000														19			16		0	0	0.004007	0	0
C14orf37	145407	broad.mit.edu	37	14	58563465	58563465	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:58563465C>T	uc010tro.2	-	5	2378	c.2180G>A	c.(2179-2181)tGg>tAg	p.W727*	C14orf37_uc001xdc.3_Nonsense_Mutation_p.W689*|C14orf37_uc001xdd.3_Nonsense_Mutation_p.W689*	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	689						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTGCTGTTCCCACTCGAGGGC	0.502000														5			6		0	0	0.001168	0	0
WDR70	55100	broad.mit.edu	37	5	37725136	37725136	+	Silent	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:37725136T>A	uc003jkv.3	+	15	1756	c.1698T>A	c.(1696-1698)ccT>ccA	p.P566P		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	566										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACCTGAACCTCCTGTAGCAG	0.537000														45			22		0	0	0.003954	0	0
ZNF713	349075	broad.mit.edu	37	7	56006968	56006968	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:56006968C>T	uc003tra.2	+	6	1408	c.601C>T	c.(601-603)Cct>Tct	p.P201S	ZNF713_uc003trc.1_Missense_Mutation_p.P188S	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCAGAGAATTCCTTCCATTAA	0.373000														44			10		0	0	0.006214	0	0
COL24A1	255631	broad.mit.edu	37	1	86283719	86283719	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:86283719G>A	uc001dlj.3	-	45	3916	c.3841C>T	c.(3841-3843)Cct>Tct	p.P1281S	COL24A1_uc001dli.3_Missense_Mutation_p.P417S|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.P581S|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1281	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTACTTACAGGAATCCCAGGT	0.408000														47			47		0	0	0.003610	0	0
OR6C2	341416	broad.mit.edu	37	12	55846554	55846554	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:55846554C>T	uc001sgz.1	+	0	557	c.557C>T	c.(556-558)tCa>tTa	p.S186L		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTAAAGATCTCATGCTCAGAT	0.413000														45			39		0	0	0.006999	0	0
NBPF1	55672	broad.mit.edu	37	1	16892177	16892177	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:16892177G>A	uc009vos.1	-	26	3903	c.3015C>T	c.(3013-3015)tcC>tcT	p.S1005S	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1005	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ATGCATAAAAGGAACTTCCAT	0.448000														911			22		0	0	0.008871	0	0
MTBP	27085	broad.mit.edu	37	8	121471542	121471542	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:121471542C>T	uc003ypc.1	+	7	880	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	MTBP_uc011lie.1_Non-coding_Transcript	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	279					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TACTGACTTCCTTGCCAAAAA	0.294000														32			16		0	0	0.004007	0	0
FBXW10	10517	broad.mit.edu	37	17	18675803	18675803	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:18675803G>A	uc002gul.3	+	10	2404	c.2172G>A	c.(2170-2172)acG>acA	p.T724T	FBXW10_uc002guj.3_Silent_p.T695T|FBXW10_uc002guk.3_Silent_p.T695T|FBXW10_uc010cqh.2_Silent_p.T642T	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	695										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						Tggaaaaaacgaaacaaaaga	0.408000														37			69		0	0	0.003610	0	0
KRT7	3855	broad.mit.edu	37	12	52635367	52635367	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:52635367G>A	uc001saa.1	+	4	932	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	269	Coil 2.|Rod.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GGCGCAGTATGAGGAGATGGC	0.607000														10			15		0	0	0.003163	0	0
WDR81	124997	broad.mit.edu	37	17	1636905	1636905	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:1636905G>A	uc002ftj.2	+	6	4703	c.4574G>A	c.(4573-4575)aGt>aAt	p.S1525N	WDR81_uc002fth.2_Missense_Mutation_p.S474N|WDR81_uc010vqp.1_Missense_Mutation_p.S322N|WDR81_uc002fti.2_Missense_Mutation_p.S298N|WDR81_uc010vqq.1_Missense_Mutation_p.S156N	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	298										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCCCCAGCAGTCGCAACCCT	0.662000														20			27		0	0	0.004656	0	0
ST14	6768	broad.mit.edu	37	11	130069969	130069969	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:130069969C>T	uc001qfw.3	+	15	2124	c.1931C>T	c.(1930-1932)tCc>tTc	p.S644F		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	644	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	p.S644S(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGCGGTGCTTCCCTCATCTCT	0.627000														8			17		0	0	0.008871	0	0
DSG1	1828	broad.mit.edu	37	18	28934380	28934380	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:28934380G>A	uc002kwp.3	+	14	2433	c.2221G>A	c.(2221-2223)Gaa>Aaa	p.E741K	DSG1_uc010xbp.2_Missense_Mutation_p.E100K	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	741					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTTCATTGGAGAAGACCTGGA	0.458000														65			22		0	0	0.003954	0	0
FLNA	2316	broad.mit.edu	37	X	153589684	153589684	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:153589684G>A	uc004fkk.2	-	20	3448	c.3199C>T	c.(3199-3201)Cct>Tct	p.P1067S	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.P1067S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1067					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTTGCTAGGCTTGGTGGGG	0.612000														15			24		0	0	0.004656	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24646006	24646006	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:24646006G>A	uc002wtw.1	+	3	1276	c.643G>A	c.(643-645)Gac>Aac	p.D215N		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	215					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GGCCAAGGGGGACTTGCACCA	0.592000														91			41		0	0	0.003610	0	0
ARSA	410	broad.mit.edu	37	22	51065310	51065310	+	Silent	SNP	G	A	A	rs149026944	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:51065310G>A	uc003bna.4	-	2	640	c.378C>T	c.(376-378)gcC>gcT	p.A126A	ARSA_uc021wsd.1_Silent_p.A212A|ARSA_uc021wse.1_Silent_p.A212A|ARSA_uc021wsf.1_Silent_p.A212A|ARSA_uc003bmz.4_Silent_p.A210A|ARSA_uc010hbf.3_3'UTR	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	210						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	p.A210A(1)		endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GCTGGGCGTCGGCCATGAGGT	0.652000														110			82		0	0	0.003610	0	0
GCFC1	94104	broad.mit.edu	37	21	34117948	34117948	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:34117948C>T	uc002yqn.3	-	11	2195	c.2005G>A	c.(2005-2007)Gat>Aat	p.D669N	GCFC1_uc002yql.3_Missense_Mutation_p.D178N|GCFC1_uc002yqm.3_Missense_Mutation_p.D163N|GCFC1_uc002yqo.3_Non-coding_Transcript|GCFC1_uc002yqp.3_Missense_Mutation_p.D669N	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	669						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						TCTACATCATCTTTTTCTTGC	0.378000														30			33		0	0	0.002445	0	0
COL27A1	85301	broad.mit.edu	37	9	117005812	117005812	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:117005812C>T	uc011lxl.2	+	22	2906	c.2906C>T	c.(2905-2907)cCt>cTt	p.P969L	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	969	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AAGGGGTTTCCTGGGAGGCCC	0.627000														2			19		0	0	0.004656	0	0
IL7R	3575	broad.mit.edu	37	5	35876102	35876102	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:35876102C>T	uc003jjs.3	+	7	983	c.894C>T	c.(892-894)ttC>ttT	p.F298F	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	298					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ATGTGAGTTTCAATCCTGAAA	0.418000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							26			11		0	0	0.001855	0	0
SPATA18	132671	broad.mit.edu	37	4	52945915	52945915	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:52945915G>A	uc003gzl.3	+	8	1463	c.1185G>A	c.(1183-1185)gtG>gtA	p.V395V	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Silent_p.V363V|SPATA18_uc003gzk.1_Silent_p.V395V	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	395					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTCAGGATGTGATCCGAGCCA	0.428000														106			58		0	0	0.003610	0	0
NPSR1	387129	broad.mit.edu	37	7	34889188	34889188	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:34889188C>T	uc003teh.1	+	9	1265	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.S346L|NPSR1_uc010kwt.1_Missense_Mutation_p.S193L|NPSR1_uc010kwu.1_Missense_Mutation_p.S136L|NPSR1_uc010kwv.1_Missense_Mutation_p.S280L|NPSR1_uc003tei.1_Intron|NPSR1_uc010kww.1_Intron|NPSR1_uc011kar.1_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	0						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	GAGCAAAGATCACAGGATTCC	0.438000														44			59		0	0	0.003610	0	0
EBF2	64641	broad.mit.edu	37	8	25745398	25745398	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:25745398C>T	uc003xes.2	-	8	1107	c.842G>A	c.(841-843)gGt>gAt	p.G281D	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	281	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CACTTGGAGACCATCAAAGAA	0.498000														41			15		0	0	0.004990	0	0
FOXD4	2298	broad.mit.edu	37	9	118092	118092	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:118092G>A	uc003zfz.3	-	0	326	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	10					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGTGTGGAGCGAAGGCGCTCA	0.652000														22			36		0	0	0.003610	0	0
HECW1	23072	broad.mit.edu	37	7	43591895	43591895	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:43591895C>T	uc003tid.1	+	27	5075	c.4470C>T	c.(4468-4470)atC>atT	p.I1490I	HECW1_uc011kbi.1_Silent_p.I1456I	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1490	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.V1490V(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCGCGGAAATCGACCTAAATG	0.512000														93			13		0	0	0.002450	0	0
SCN11A	11280	broad.mit.edu	37	3	38912214	38912214	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:38912214C>T	uc021wvy.1	-	21	3980	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1261					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TATATAATATCCATCCAGCCC	0.403000														13			15		0	0	0.004007	0	0
SCGN	10590	broad.mit.edu	37	6	25670232	25670232	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:25670232C>T	uc003nfb.3	+	5	602	c.399C>T	c.(397-399)ttC>ttT	p.F133F	SCGN_uc010jpz.3_Missense_Mutation_p.S43F	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	133	EF-hand 3.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CACAGAACTTCCTCCGAGACC	0.398000														218			78		0	0	0.003610	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	T	T	rs425487	by1000genomes	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:39274415C>T	uc002hvz.3	-	0	192	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(12)|p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000														58			4		0	0	0.001984	0	0
FLJ43860	389690	broad.mit.edu	37	8	142486223	142486223	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:142486223C>T	uc003ywi.2	-	12	1551	c.1470G>A	c.(1468-1470)ttG>ttA	p.L490L	FLJ43860_uc011ljs.1_Intron|FLJ43860_uc010meu.1_Intron	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	490							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ACTTCCTTTCCAAGTCTATGG	0.612000														1			3		0	0	0.004672	0	0
DNAH5	1767	broad.mit.edu	37	5	13916470	13916470	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:13916470G>A	uc003jfd.2	-	8	1226	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	395	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TACAAACAGAGATGTGATCTT	0.318000									Kartagener syndrome					10			21		0	0	0.001523	0	0
OR10J5	127385	broad.mit.edu	37	1	159505736	159505736	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:159505736C>T	uc010piw.2	-	0	62	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGATGCTTTCCAAAGCTAGA	0.368000														51			10		0	0	0.000978	0	0
FGFR2	2263	broad.mit.edu	37	10	123245021	123245021	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:123245021C>T	uc021pzz.1	-	15	2730	c.2083G>A	c.(2083-2085)Gag>Aag	p.E695K	FGFR2_uc021pzv.1_Missense_Mutation_p.E583K|FGFR2_uc021pzw.1_Missense_Mutation_p.E580K|FGFR2_uc021pzx.1_Missense_Mutation_p.E606K|FGFR2_uc021pzy.1_Missense_Mutation_p.E696K|FGFR2_uc010qtl.2_Missense_Mutation_p.E579K|FGFR2_uc010qtm.2_Missense_Mutation_p.E578K|FGFR2_uc021qaa.1_Missense_Mutation_p.E696K|FGFR2_uc021qab.1_Missense_Mutation_p.E607K|FGFR2_uc021qac.1_Missense_Mutation_p.E624K|FGFR2_uc001lfg.4_Missense_Mutation_p.E303K|FGFR2_uc001lfk.1_5'Flank	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	695	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTGAAGATCTCCCACATTAAC	0.517000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					33			15		0	0	0.003163	0	0
ZNF768	79724	broad.mit.edu	37	16	30536502	30536502	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:30536502G>A	uc002dyk.4	-	1	1135	c.959C>T	c.(958-960)cCc>cTc	p.P320L	ZNF768_uc010vex.2_Missense_Mutation_p.P289L|ZNF768_uc010vew.2_Missense_Mutation_p.P289L	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	320					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCCGCAACGGGGACATTTGTA	0.602000														11			16		0	0	0.006122	0	0
HSP90AB3P	3327	broad.mit.edu	37	4	88814998	88814998	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:88814998C>T	uc010iko.1	+	3	1625	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F						Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 3, pseudogene (HSP90AB3P), non-coding RNA.																		TCGGGCTTTTCCCTTGAGGAT	0.532000														126			93		0	0	0.003610	0	0
SH3TC2	79628	broad.mit.edu	37	5	148408258	148408258	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:148408258G>A	uc003lpu.3	-	9	1311	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_5'UTR|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.P380S|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.P272S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	387							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATTTGGAGGATTCTGGATG	0.517000														19			33		0	0	0.004878	0	0
ADCY8	114	broad.mit.edu	37	8	131880139	131880139	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:131880139G>A	uc003ytd.4	-	8	2419	c.2163C>T	c.(2161-2163)atC>atT	p.I721I	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	721					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATAGAAGAACGATAAATGCAC	0.348000										HNSCC(32;0.087)				31			21		0	0	0.004656	0	0
CFB	629	broad.mit.edu	37	6	31895820	31895820	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31895820C>G	uc011dor.2	+	1	399	c.135C>G	c.(133-135)agC>agG	p.S45R	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.S45R|CFB_uc003nyf.3_Missense_Mutation_p.S45R|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Missense_Mutation_p.A7G	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	56	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTCCTGGGAGCCTTCTCACCT	0.652000														269			87		0	0	0.003610	0	0
SCLT1	132320	broad.mit.edu	37	4	129867244	129867244	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:129867244A>T	uc003igp.2	-	15	1863	c.1357T>A	c.(1357-1359)Ttc>Atc	p.F453I	SCLT1_uc003ign.2_Missense_Mutation_p.F117I|SCLT1_uc003igo.2_Missense_Mutation_p.F63I|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron	NM_144643	NP_653244	Q96NL6	SCLT1_HUMAN	Homo sapiens sodium channel and clathrin linker 1 (SCLT1), mRNA.	453						centrosome		p.F453F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						GAAACCAGGAATCTTTGGTGC	0.353000														22			11		0	0	0.000978	0	0
PPP6R3	55291	broad.mit.edu	37	11	68367904	68367904	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:68367904C>T	uc001onv.3	+	19	2401	c.2134C>T	c.(2134-2136)Ccg>Tcg	p.P712S	PPP6R3_uc001onw.3_Missense_Mutation_p.P712S|PPP6R3_uc001ony.4_Missense_Mutation_p.P683S|PPP6R3_uc001onx.3_Missense_Mutation_p.P706S|PPP6R3_uc009ysh.3_Missense_Mutation_p.P632S|PPP6R3_uc001onu.3_Missense_Mutation_p.P632S|PPP6R3_uc010rqc.2_Missense_Mutation_p.P480S|PPP6R3_uc010rqd.2_Missense_Mutation_p.P395S|PPP6R3_uc001onz.3_Missense_Mutation_p.P40S|PPP6R3_uc001ooa.3_Missense_Mutation_p.P162S	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	712					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACAGAGGAGCCGATGCCAAC	0.527000														14			19		0	0	0.006122	0	0
CPXM2	119587	broad.mit.edu	37	10	125558698	125558698	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:125558698G>A	uc001lhk.1	-	4	996	c.671C>T	c.(670-672)tCc>tTc	p.S224F	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	224	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GACCTTATAGGATGTCACCCA	0.423000														92			29		0	0	0.002096	0	0
DMBT1	1755	broad.mit.edu	37	10	124402684	124402684	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:124402684C>T	uc001lgk.1	+	52	7118	c.7012C>T	c.(7012-7014)Cgc>Tgc	p.R2338C	DMBT1_uc001lgl.1_Missense_Mutation_p.R2328C|DMBT1_uc001lgm.1_Missense_Mutation_p.R1710C|DMBT1_uc021qaf.1_Missense_Mutation_p.R2338C|DMBT1_uc021qag.1_Missense_Mutation_p.R2328C|DMBT1_uc021qah.1_Missense_Mutation_p.R1710C|DMBT1_uc009xzz.1_Missense_Mutation_p.R2337C|DMBT1_uc010qtx.1_Missense_Mutation_p.R1058C|DMBT1_uc009yab.1_Missense_Mutation_p.R1041C|DMBT1_uc009yac.1_Missense_Mutation_p.R632C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2338	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCCATCTCTTCGCATTGCCCG	0.567000														44			21		0	0	0.001523	0	0
SCO1	6341	broad.mit.edu	37	17	10596221	10596221	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:10596221G>A	uc002gmr.4	-	2	483	c.422C>T	c.(421-423)tCc>tTc	p.S141F		NM_004589	NP_004580	O75880	SCO1_HUMAN	Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1), nuclear gene encoding mitochondrial protein, mRNA.	141					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						AGTTGTGAGGGAAAACGGTCC	0.443000														7			22		0	0	0.005443	0	0
DOK6	220164	broad.mit.edu	37	18	67266698	67266698	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:67266698C>T	uc002lkl.3	+	2	450	c.253C>T	c.(253-255)Cac>Tac	p.H85Y		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	85	PH.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AATCATCTTTCACGATGAAAC	0.418000														16			6		0	0	0.001168	0	0
DYM	54808	broad.mit.edu	37	18	46956685	46956685	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:46956685G>A	uc002ldi.1	-	1	445	c.80C>T	c.(79-81)tCt>tTt	p.S27F	DYM_uc010xdf.1_Missense_Mutation_p.S27F	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	27						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GTCATTCTCAGAGATAGATTC	0.418000														57			19		0	0	0.007413	0	0
MPL	4352	broad.mit.edu	37	1	43803540	43803540	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:43803540C>T	uc001ciw.3	+	0	66	c.21C>T	c.(19-21)ttC>ttT	p.F7F	MPL_uc001civ.3_Silent_p.F7F|MPL_uc009vwr.3_Silent_p.F7F	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	7					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGCCCTCTTCATGGTCACCT	0.632000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia							6			3		0	0	0.004672	0	0
GGT5	2687	broad.mit.edu	37	22	24621589	24621589	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:24621589C>T	uc002zzp.4	-	8	1678	c.1261G>A	c.(1261-1263)Ggc>Agc	p.G421S	GGT5_uc002zzo.4_Missense_Mutation_p.G421S|GGT5_uc002zzr.4_Missense_Mutation_p.G389S|GGT5_uc002zzq.4_Missense_Mutation_p.G389S|GGT5_uc011ajm.2_Missense_Mutation_p.G344S	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	421					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGGATGATGCCTGTCCGTGGT	0.627000														35			14		0	0	0.002450	0	0
LIMK2	3985	broad.mit.edu	37	22	31658740	31658740	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:31658740G>A	uc003akh.3	+	6	962	c.817G>A	c.(817-819)Gag>Aag	p.E273K	LIMK2_uc003aki.3_Intron|LIMK2_uc003akj.3_Missense_Mutation_p.E252K|LIMK2_uc003akk.3_Missense_Mutation_p.E252K|LIMK2_uc011aln.2_Missense_Mutation_p.E190K	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	273						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GGACACCAAGGAGAATCTGGA	0.632000														4			3		0	0	0.004672	0	0
MUC17	140453	broad.mit.edu	37	7	100685823	100685823	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:100685823C>T	uc003uxp.1	+	2	11179	c.11126C>T	c.(11125-11127)tCt>tTt	p.S3709F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3709	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGACCAGCTCTGAGGGTAGC	0.517000														117			27		0	0	0.004656	0	0
CCKAR	886	broad.mit.edu	37	4	26491823	26491823	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:26491823C>T	uc003gse.1	-	0	220	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	23					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTCATTTTCGAGCCCGAGT	0.483000														33			11		0	0	0.003163	0	0
ZNF684	127396	broad.mit.edu	37	1	41012620	41012620	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:41012620C>T	uc001cft.2	+	4	876	c.625C>T	c.(625-627)Cat>Tat	p.H209Y		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			TCAGAAAATTCATAATGGAGA	0.428000														16			14		0	0	0.004007	0	0
PAK7	57144	broad.mit.edu	37	20	9561101	9561102	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:9561101_9561102AG>CA	uc002wnl.2	-	4	1225_1226	c.680_681CT>TG	c.(679-681)cct>cTG	p.P227L	PAK7_uc002wnk.2_Missense_Mutation_p.P227L|PAK7_uc002wnj.2_Missense_Mutation_p.P227L|PAK7_uc010gby.1_Missense_Mutation_p.P227L	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	227	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S226S(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AATAATCCAGAGGGGAGCTACT	0.505000														22			10		0	0	0.004672	0	0
GRIA2	2891	broad.mit.edu	37	4	158284117	158284117	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:158284117C>T	uc003ipm.4	+	14	3032	c.2573C>T	c.(2572-2574)tCt>tTt	p.S858F	GRIA2_uc011cit.2_Missense_Mutation_p.S811F|GRIA2_uc003ipl.4_Missense_Mutation_p.S858F|GRIA2_uc003ipk.4_Missense_Mutation_p.S811F|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	858					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATTAACCCATCTTCCTCGCAG	0.428000														39			17		0	0	0.006122	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261906	23261906	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:23261906G>A	uc001yvh.1	+	10	1317	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						CCGGGGACAAGAAGAGAGGAT	0.572000														6			12		0	0	0.001368	0	0
ATF4	468	broad.mit.edu	37	22	39918330	39918330	+	Missense_Mutation	SNP	C	T	T	rs147899546		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:39918330C>T	uc003axz.3	+	2	1059	c.779C>T	c.(778-780)cCt>cTt	p.P260L	ATF4_uc011aol.1_Missense_Mutation_p.P172L|ATF4_uc003aya.3_Missense_Mutation_p.P260L	NM_182810	NP_877962	P18848	ATF4_HUMAN	Homo sapiens activating transcription factor 4 (tax-responsive enhancer element B67) (ATF4), transcript variant 2, mRNA.	260					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CGTCCCAAACCTTACGATCCT	0.517000														20			8		0	0	0.004482	0	0
LRRC1	55227	broad.mit.edu	37	6	53764569	53764569	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:53764569C>T	uc003pcd.1	+	7	1188	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	223						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAAGAACCTGCTGTGTTTAGA	0.383000														53			15		0	0	0.004990	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142489	18142489	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:18142489C>T	uc021wbb.1	+	4	1145	c.708C>T	c.(706-708)ccC>ccT	p.P236P	CSRP2BP_uc002wqk.3_Silent_p.P108P|CSRP2BP_uc010zru.2_Silent_p.P107P	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	236					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CTTTAGATCCCATCATTACTG	0.413000														32			18		0	0	0.007413	0	0
DNAH10	196385	broad.mit.edu	37	12	124298405	124298405	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:124298405C>T	uc001uft.4	+	19	3397	c.3372C>T	c.(3370-3372)ctC>ctT	p.L1124L	DNAH10_uc010tav.1_3'UTR|DNAH10_uc010taw.1_3'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1124	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCATGGAACTCAGATATAGGG	0.388000														31			4		0	0	0.000602	0	0
CLCNKA	1187	broad.mit.edu	37	1	16374527	16374527	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:16374527C>T	uc001axx.4	+	4	622	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	162					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCACCCTCTTCCTCGGGAAAG	0.622000														23			8		0	0	0.003080	0	0
ABCD2	225	broad.mit.edu	37	12	39973389	39973389	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:39973389G>A	uc001rmb.2	-	7	2251	c.1825C>T	c.(1825-1827)Ctg>Ttg	p.L609L		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	609	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CCTCCTGACAGGACATCTTTC	0.328000														59			35		0	0	0.008740	0	0
FGF1	2246	broad.mit.edu	37	5	141974978	141974978	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:141974978C>T	uc003lmm.3	-	3	425	c.345G>A	c.(343-345)aaG>aaA	p.K115K	FGF1_uc011dbi.2_3'UTR|FGF1_uc003lmn.4_Silent_p.K115K|FGF1_uc003lmp.4_3'UTR|FGF1_uc003lmq.3_Silent_p.K115K|FGF1_uc010jgj.3_Silent_p.K114K|FGF1_uc003lmr.3_Silent_p.K115K|FGF1_uc003lms.4_Silent_p.K115K|FGF1_uc021yew.1_3'UTR	NM_001144892	NP_001138407	P05230	FGF1_HUMAN	Homo sapiens fibroblast growth factor 1 (acidic) (FGF1), transcript variant 4, mRNA.	115					angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter	cell cortex|cytosol|extracellular space	S100 alpha binding|fibroblast growth factor receptor binding|growth factor activity|heparin binding			large_intestine(1)|lung(2)	3		all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00032)	Pentosan Polysulfate(DB00686)	CTGCATGCTTCTTGGATATAT	0.443000														13			30		0	0	0.001786	0	0
DLL4	54567	broad.mit.edu	37	15	41223949	41223949	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:41223949G>A	uc001zng.2	+	3	979	c.643G>A	c.(643-645)Gaa>Aaa	p.E215K		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	215	DSL.				Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTGGACTGGGGAATATTGCCA	0.582000														8			5		0	0	0.000602	0	0
ABAT	18	broad.mit.edu	37	16	8858602	8858602	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:8858602C>T	uc002czc.4	+	7	621	c.455C>T	c.(454-456)cCc>cTc	p.P152L	ABAT_uc002czd.4_Missense_Mutation_p.P152L|ABAT_uc010buh.3_Missense_Mutation_p.P94L|ABAT_uc010bui.3_Missense_Mutation_p.P152L	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	152					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAGGTGGCTCCCAAAGGGATG	0.592000														24			16		0	0	0.004007	0	0
MAGI2	9863	broad.mit.edu	37	7	77756669	77756669	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:77756669C>T	uc003ugx.3	-	18	3522	c.3268G>A	c.(3268-3270)Gac>Aac	p.D1090N	MAGI2_uc003ugy.3_Missense_Mutation_p.D1076N|MAGI2_uc010ldx.1_Missense_Mutation_p.D683N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1090	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGCCTGTAGTCTGTGAATGGA	0.537000														57			11		0	0	0.002450	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204433193	204433193	+	Silent	SNP	C	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:204433193C>A	uc001haw.3	-	5	1736	c.1257G>T	c.(1255-1257)gtG>gtT	p.V419V	PIK3C2B_uc010pqv.2_Silent_p.V419V|PIK3C2B_uc001hax.1_Silent_p.V419V|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	419					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CACCCACGTCCACATTCCTCA	0.537000														79			21		6.44725e-10	9.87108e-10	0.002299	1	0
PTPRT	11122	broad.mit.edu	37	20	40770569	40770570	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:40770569_40770570CC>TT	uc002xkg.3	-	17	2939_2940	c.2755_2756GG>AA	c.(2755-2757)ggg>AAg	p.G919K	PTPRT_uc010ggj.3_Missense_Mutation_p.G938K|PTPRT_uc010ggi.3_Missense_Mutation_p.G122K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	919	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TATGATGTTCCCATATCGATTC	0.475000														194			32		0	0	0.004672	0	0
MYH2	4620	broad.mit.edu	37	17	10446465	10446465	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:10446465C>T	uc010coi.3	-	8	883	c.755G>A	c.(754-756)aGa>aAa	p.R252K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R252K|MYH2_uc010coj.3_Missense_Mutation_p.R252K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	252	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAAGTGGATTCTGATGAATTT	0.284000														43			53		0	0	0.003610	0	0
ZNF354C	30832	broad.mit.edu	37	5	178505774	178505774	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:178505774C>T	uc003mju.3	+	4	456	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S114P(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AAGAAAGAATCCATTAAGGAT	0.373000														10			27		0	0	0.006320	0	0
SLC41A1	254428	broad.mit.edu	37	1	205764127	205764127	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:205764127G>A	uc001hdh.1	-	9	2099	c.1227C>T	c.(1225-1227)gcC>gcT	p.A409A	SLC41A1_uc001hdg.1_Silent_p.A30A	NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	409						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGAGGACCCGGGCTGAGCGAG	0.567000														29			8		0	0	0.008291	0	0
ZNF208	7757	broad.mit.edu	37	19	22193595	22193595	+	Splice_Site	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:22193595A>C	uc021urr.1	-	1	152	c.3_splice	c.e1+1	p.M1_splice	ZNF208_uc002nqo.1_Splice_Site_p.M1_splice|ZNF208_uc002nqq.3_Splice_Site	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACACTCACCATTTCTAGGCT	0.622000														6			11		0	0	0.001368	0	0
C7	730	broad.mit.edu	37	5	40959592	40959592	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:40959592C>T	uc003jmh.3	+	11	1645	c.1531C>T	c.(1531-1533)Ccc>Tcc	p.P511S	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	511	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTCTTGGAGCCCCTGTGTCCA	0.502000														19			12		0	0	0.000978	0	0
BAI3	577	broad.mit.edu	37	6	69349060	69349060	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:69349060C>T	uc010kak.3	+	1	769	c.493C>T	c.(493-495)Cag>Tag	p.Q165*	BAI3_uc003pev.4_Nonsense_Mutation_p.Q165*	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	165					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAGCCCAAGCCAGTTTGGTTG	0.383000														50			30		0	0	0.003271	0	0
CRYGN	155051	broad.mit.edu	37	7	151133346	151133346	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:151133346G>A	uc003wke.3	-	2	432	c.336C>T	c.(334-336)ttC>ttT	p.F112F	CRYGN_uc003wkf.3_Intron|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_Non-coding_Transcript|MIR3907_uc022aqe.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	112	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCCTCCAGGAACTCCAGGC	0.562000														11			19		0	0	0.007413	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754803	94754803	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:94754803C>T	uc001yct.3	-	2	1278	c.812G>A	c.(811-813)gGt>gAt	p.G271D	SERPINA10_uc001ycu.4_Missense_Mutation_p.G271D	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	271			G -> S (in dbSNP:rs2232708).		regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTGCCTGCACCGTACATCAT	0.498000														23			30		0	0	0.001786	0	0
NDST4	64579	broad.mit.edu	37	4	115997728	115997728	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:115997728C>T	uc003ibu.3	-	1	1144	c.465G>A	c.(463-465)gtG>gtA	p.V155V	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	155	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CACTGTATTCCACACAGTATT	0.323000														43			19		0	0	0.002780	0	0
TUBA3C	7278	broad.mit.edu	37	13	19748108	19748108	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:19748108C>T	uc009zzj.3	-	4	1353	c.1248G>A	c.(1246-1248)ggG>ggA	p.G416G		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	416					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CAGAGAACTCCCCCTCCTCCA	0.592000														30			65		0	0	0.003610	0	0
FFAR3	2865	broad.mit.edu	37	19	35849867	35849867	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:35849867C>T	uc002nzd.3	+	1	150	c.75C>T	c.(73-75)ttC>ttT	p.F25F	FFAR3_uc021usm.1_Silent_p.F25F	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	25						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TTCTCACTTTCCTGGTGGGGC	0.632000														33			13		0	0	0.004656	0	0
ANK3	288	broad.mit.edu	37	10	61846602	61846602	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:61846602C>T	uc001jky.3	-	29	3919	c.3581G>A	c.(3580-3582)gGa>gAa	p.G1194E	ANK3_uc001jkw.3_Missense_Mutation_p.G328E|ANK3_uc009xpa.3_Missense_Mutation_p.G328E|ANK3_uc001jkx.3_Missense_Mutation_p.G372E|ANK3_uc010qih.2_Missense_Mutation_p.G1195E|ANK3_uc001jkz.4_Missense_Mutation_p.G1188E|ANK3_uc001jla.1_Missense_Mutation_p.G260E|ANK3_uc001jlb.1_Missense_Mutation_p.G712E	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1194					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCTTTGTTTCCAAGGATCTT	0.413000														13			15		0	0	0.003163	0	0
OR10G2	26534	broad.mit.edu	37	14	22102334	22102334	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:22102334G>A	uc010tmc.2	-	0	665	c.665C>T	c.(664-666)tCc>tTc	p.S222F		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GTTGGCATAGGAGAGCAGAAT	0.547000														3			22		0	0	0.001523	0	0
OR10T2	128360	broad.mit.edu	37	1	158368948	158368948	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158368948G>A	uc010pih.2	-	0	309	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CAAGGAAAAAGAACAGCTGGG	0.507000														18			6		0	0	0.001168	0	0
CATSPERD	257062	broad.mit.edu	37	19	5733907	5733907	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:5733907C>T	uc002mda.3	+	4	378	c.317C>T	c.(316-318)tCg>tTg	p.S106L	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	106						integral to membrane											TTTGCTGGTTCGTTATTGCTG	0.313000														7			19		0	0	0.002299	0	0
LRRC14B	389257	broad.mit.edu	37	5	195035	195035	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:195035G>A	uc003jal.1	+	1	1140	c.1112G>A	c.(1111-1113)gGc>gAc	p.G371D		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	Homo sapiens leucine rich repeat containing 14B (LRRC14B), mRNA.	371										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GAGGAGTGTGGCATCGTAGAC	0.652000														7			9		0	0	0.006214	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251409	25251409	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:25251409G>A	uc002dod.4	-	6	3039	c.2632C>T	c.(2632-2634)Cgg>Tgg	p.R878W	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.R674W	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	878					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGAACTCTCCGGTGGGCGCTG	0.453000														31			23		0	0	0.004656	0	0
OR2G6	391211	broad.mit.edu	37	1	248685105	248685105	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248685105C>T	uc001ien.1	+	0	158	c.158C>T	c.(157-159)tCc>tTc	p.S53F		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S53Y(4)|p.S53*(2)|p.S53S(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTCTGGACTCCAGACTCCAC	0.483000														21			17		0	0	0.004007	0	0
KPRP	448834	broad.mit.edu	37	1	152733600	152733600	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:152733600C>T	uc001fal.1	+	1	1594	c.1536C>T	c.(1534-1536)gaC>gaT	p.D512D	KPRP_uc021ozf.1_Silent_p.D512D	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	512						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCCAGGAGACCTAGGCTGTC	0.637000														34			15		0	0	0.004007	0	0
OSTCP1	202459	broad.mit.edu	37	6	159262913	159262913	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:159262913C>T	uc003qrw.3	-	2		c.431G>A								Homo sapiens oligosaccharyltransferase complex subunit pseudogene 1 (OSTCP1), non-coding RNA.																		ACCTAAACCTCCTATTGTAAA	0.408000														14			29		0	0	0.002836	0	0
FAM179A	165186	broad.mit.edu	37	2	29259556	29259556	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:29259556C>T	uc010ezl.3	+	17	2919	c.2568C>T	c.(2566-2568)ctC>ctT	p.L856L	FAM179A_uc010ymm.2_Silent_p.L801L|FAM179A_uc002rmr.4_Silent_p.L383L|FAM179A_uc002rms.1_Silent_p.L154L	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	856							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGACAACCTCAACTCCAAGA	0.582000														15			11		0	0	0.003163	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599243	136599243	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:136599243G>A	uc003qgx.1	-	3	1029	c.776C>T	c.(775-777)tCt>tTt	p.S259F	BCLAF1_uc003qgy.1_Missense_Mutation_p.S257F|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.S257F|BCLAF1_uc003qgw.1_Missense_Mutation_p.S259F	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	259					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAATGCTGAGAAGGAGTATT	0.448000														37			4		0	0	0.000248	0	0
YBEY	54059	broad.mit.edu	37	21	47711300	47711300	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:47711300T>C	uc002ziv.3	+	2	692	c.263T>C	c.(262-264)tTg>tCg	p.L88S	YBEY_uc002zit.1_Missense_Mutation_p.L88S|YBEY_uc002ziu.1_Missense_Mutation_p.L88S|YBEY_uc010gqh.3_Intron|YBEY_uc002ziw.3_Missense_Mutation_p.L43S|YBEY_uc002zix.3_Missense_Mutation_p.L88S|YBEY_uc002ziy.3_Intron	NM_058181	NP_478061	P58557	YBEY_HUMAN	Homo sapiens ybeY metallopeptidase (putative) (YBEY), transcript variant 1, mRNA.	88							metal ion binding|metalloendopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GACTACAATTTGGGAGACATT	0.398000														27			6		0	0	0.001984	0	0
RABEP1	9135	broad.mit.edu	37	17	5212104	5212104	+	Silent	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:5212104T>C	uc002gbm.4	+	1	374	c.150T>C	c.(148-150)taT>taC	p.Y50Y	RABEP1_uc010clc.1_Silent_p.Y50Y|RABEP1_uc010cld.1_Intron|RABEP1_uc010vsw.1_Intron|RABEP1_uc002gbl.4_Silent_p.Y50Y|RABEP1_uc002gbj.3_Silent_p.Y50Y|RABEP1_uc002gbk.2_Silent_p.Y50Y	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	50					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGGAGTTATATTTGGCTAAAG	0.343000														12			25		0	0	0.001786	0	0
SCEL	8796	broad.mit.edu	37	13	78187059	78187059	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:78187059C>T	uc001vki.3	+	22	1541	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	SCEL_uc010thx.2_Silent_p.I415I|SCEL_uc001vkj.3_Silent_p.I437I	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	457	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TCAAAGTGATCCCTTCAGCAA	0.279000														11			11		0	0	0.001368	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571095	155571095	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:155571095A>C	uc003fan.4	-	0	1154	c.692T>G	c.(691-693)tTg>tGg	p.L231W	SLC33A1_uc003fao.2_Missense_Mutation_p.L231W	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	231					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCAAAAACAAAACATTGCC	0.428000														45			8		0	0	0.004482	0	0
FARP2	9855	broad.mit.edu	37	2	242396191	242396191	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:242396191C>T	uc002wbi.2	+	13	1605	c.1441C>T	c.(1441-1443)Ccc>Tcc	p.P481S	FARP2_uc010zoq.2_Missense_Mutation_p.P481S|FARP2_uc010zor.2_Missense_Mutation_p.P481S	NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	481	Pro-rich.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TCAGCCTTCTCCCTCCAGCCG	0.607000														74			20		0	0	0.002780	0	0
USH2A	7399	broad.mit.edu	37	1	215901413	215901413	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:215901413G>A	uc001hku.1	-	60	12412	c.12025C>T	c.(12025-12027)Cct>Tct	p.P4009S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4009	Fibronectin type-III 25.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTAAATGTAGGATCGTCGGGT	0.443000										HNSCC(13;0.011)				87			26		0	0	0.006320	0	0
OSBPL6	114880	broad.mit.edu	37	2	179214106	179214106	+	Silent	SNP	C	T	T	rs139699722		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:179214106C>T	uc002uly.3	+	12	1762	c.1218C>T	c.(1216-1218)atC>atT	p.I406I	OSBPL6_uc002ulw.3_Silent_p.I350I|OSBPL6_uc002ulx.3_Silent_p.I381I|OSBPL6_uc010zfe.2_Silent_p.I350I|OSBPL6_uc002ulz.3_Silent_p.I381I|OSBPL6_uc002uma.3_Silent_p.I385I	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	381					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTTGTCTAATCGCACAGAAAG	0.368000														44			8		0	0	0.003080	0	0
OR5H2	79310	broad.mit.edu	37	3	98002658	98002658	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:98002658G>A	uc003dsj.1	+	0	927	c.927G>A	c.(925-927)atG>atA	p.M309I		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCACAAAAATGGTAAAAAGAA	0.274000														3			10		0	0	0.006214	0	0
GRM4	2914	broad.mit.edu	37	6	34004153	34004153	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:34004153G>A	uc003oir.4	-	7	2097	c.1734C>T	c.(1732-1734)atC>atT	p.I578I	GRM4_uc011dsn.2_Silent_p.I531I|GRM4_uc010jvh.3_Silent_p.I578I|GRM4_uc010jvi.3_Silent_p.I270I|GRM4_uc003oio.3_Silent_p.I270I|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.I438I|GRM4_uc003oiq.3_Silent_p.I445I|GRM4_uc011dsm.2_Silent_p.I409I	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	578					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CAAGCTTGATGATGGGGATGG	0.637000														47			18		0	0	0.007413	0	0
LNX1	84708	broad.mit.edu	37	4	54327130	54327130	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:54327130C>T	uc003hag.4	-	10	2387	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.E615K|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	711	PDZ 4.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCTTTAAGTTCTTTCAGCAGT	0.348000														39			25		0	0	0.003954	0	0
DDX60	55601	broad.mit.edu	37	4	169196631	169196631	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:169196631C>T	uc003irp.3	-	15	2461	c.2169G>A	c.(2167-2169)gtG>gtA	p.V723V		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	723							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCCTTTTCTTCACTTTTACAT	0.323000														11			17		0	0	0.001523	0	0
CLEC17A	388512	broad.mit.edu	37	19	14710954	14710954	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:14710954A>T	uc010dzn.2	+	11	931	c.854A>T	c.(853-855)aAt>aTt	p.N285I	CLEC17A_uc010dzo.2_Missense_Mutation_p.N285I|CLEC17A_uc002mzh.2_Missense_Mutation_p.N268I|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_Intron	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	285	C-type lectin.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										TGCCAGGAGAATTACTCTCAC	0.512000														9			16		0	0	0.003163	0	0
AQP9	366	broad.mit.edu	37	15	58467154	58467154	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:58467154C>T	uc002aez.2	+	3	771	c.414C>T	c.(412-414)atC>atT	p.I138I	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Silent_p.I73I	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	138					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		AACTGCTGATCGTGGGAGAAA	0.458000														40			9		0	0	0.004482	0	0
OR9Q2	219957	broad.mit.edu	37	11	57958210	57958210	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:57958210C>T	uc010rka.2	+	0	305	c.248C>T	c.(247-249)gCt>gTt	p.A83V		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CAGATGCTGGCTGTGCTGTGG	0.587000														24			38		0	0	0.004289	0	0
MPPED2	744	broad.mit.edu	37	11	30439117	30439117	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:30439117C>T	uc001msr.3	-	3	721	c.600G>A	c.(598-600)tgG>tgA	p.W200*	MPPED2_uc001msq.3_Nonsense_Mutation_p.W200*|MPPED2_uc009yji.3_Nonsense_Mutation_p.W74*	NM_001584	NP_001575	Q15777	MPPD2_HUMAN	Homo sapiens metallophosphoesterase domain containing 2 (MPPED2), transcript variant 1, mRNA.	200					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						GGATGAGGTTCCACTTGTCCA	0.498000														8			17		0	0	0.001523	0	0
PLCB1	23236	broad.mit.edu	37	20	8698409	8698409	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:8698409G>A	uc002wnb.3	+	13	1430	c.1427G>A	c.(1426-1428)gGa>gAa	p.G476E	PLCB1_uc010zrb.1_Missense_Mutation_p.G375E|PLCB1_uc002wna.3_Missense_Mutation_p.G476E|PLCB1_uc002wnc.1_Missense_Mutation_p.G375E|PLCB1_uc002wnd.1_Missense_Mutation_p.G53E	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	476					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCATCAGAAGGAAGCGGCAAA	0.463000														21			16		0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141143569	141143569	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:141143569G>A	uc002tvj.1	-	66	11396	c.10424C>T	c.(10423-10425)aCt>aTt	p.T3475I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3475	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGTCCACAAGTCTTTTTATC	0.413000										TSP Lung(27;0.18)				35			46		0	0	0.003610	0	0
HDC	3067	broad.mit.edu	37	15	50546441	50546441	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:50546441C>T	uc001zxz.3	-	5	948	c.606G>A	c.(604-606)ttG>ttA	p.L202L	HDC_uc001zxy.3_5'Flank|HDC_uc010uff.2_Silent_p.L202L|HDC_uc010bet.2_Silent_p.L123L|HDC_uc010beu.2_Silent_p.L202L	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	202					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CAAGGGAAATCAAACCAGCCT	0.517000														30			12		0	0	0.001855	0	0
USP34	9736	broad.mit.edu	37	2	61528235	61528235	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:61528235G>A	uc002sbe.3	-	28	4001	c.3979C>T	c.(3979-3981)Cca>Tca	p.P1327S		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1327					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAAGATGCTGGCAGCTGAACA	0.403000														108			81		0	0	0.003610	0	0
TP53	7157	broad.mit.edu	37	17	7577099	7577099	+	Missense_Mutation	SNP	C	T	T	rs121912660		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:7577099C>T	uc002gim.2	-	7	1033	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R280K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R148K|TP53_uc010cnf.1_Missense_Mutation_p.R148K|TP53_uc002gii.1_Missense_Mutation_p.R148K|TP53_uc010cni.1_Missense_Mutation_p.R280K|TP53_uc010cnh.1_Missense_Mutation_p.R280K|TP53_uc002gij.2_Missense_Mutation_p.R280K|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(126)|p.R280K(96)|p.G279E(31)|p.R280I(30)|p.R280G(19)|p.R280S(15)|p.R280fs*65(8)|p.G279R(8)|p.R280*(8)|p.0?(8)|p.G279V(4)|p.R280_D281delRD(4)|p.G279G(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.G279_R280delGR(2)|p.R280fs*62(2)|p.G279W(2)|p.G279fs*59(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.G279fs*65(2)|p.G279fs*27(2)|p.A276fs*64(1)|p.S269fs*21(1)|p.P278_G279insXXXXX(1)|p.D281fs*24(1)|p.C275fs*20(1)|p.G279fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				10			20		0	0	0.001523	0	0
FRYL	285527	broad.mit.edu	37	4	48564928	48564928	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:48564928T>G	uc003gyh.1	-	31	4279	c.3674A>C	c.(3673-3675)gAa>gCa	p.E1225A	FRYL_uc003gyk.3_Missense_Mutation_p.E1225A|FRYL_uc003gyi.1_Missense_Mutation_p.E114A	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CATAGCAACTTCATAGATACT	0.294000														81			53		0	0	0.003610	0	0
TLR8	51311	broad.mit.edu	37	X	12939764	12939764	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:12939764G>A	uc004cvd.3	+	2	2829	c.2659G>A	c.(2659-2661)Ggc>Agc	p.G887S	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.G869S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	869	TIR.				I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAAGGTAAAAGGCTACAGGTC	0.408000														21			53		0	0	0.003610	0	0
SYT1	6857	broad.mit.edu	37	12	79837866	79837866	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:79837866G>A	uc001sys.3	+	10	1613	c.942G>A	c.(940-942)aaG>aaA	p.K314K	SYT1_uc001syt.3_Silent_p.K314K|SYT1_uc001syu.3_Silent_p.K311K|SYT1_uc001syv.3_Silent_p.K314K	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	314	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTTATGTGAAGATTCATCTGA	0.333000														21			8		0	0	0.006214	0	0
BCMO1	53630	broad.mit.edu	37	16	81324033	81324033	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:81324033G>A	uc002fgn.1	+	10	1713	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	BCMO1_uc010vnp.1_Missense_Mutation_p.E430K	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	499					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						AAGCTTTACGGAATTGGCCCG	0.443000														37			30		0	0	0.002096	0	0
FAM19A1	407738	broad.mit.edu	37	3	68587941	68587941	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:68587941G>A	uc003dnd.3	+	3	510	c.294G>A	c.(292-294)atG>atA	p.M98I	FAM19A1_uc003dne.3_Missense_Mutation_p.M98I|FAM19A1_uc003dng.3_Missense_Mutation_p.M98I	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	98						endoplasmic reticulum|extracellular region		p.M98I(3)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GGTGTGAGATGGAGCCTTGCC	0.458000														12			30		0	0	0.003755	0	0
PLXNA4	91584	broad.mit.edu	37	7	131831449	131831449	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:131831449G>A	uc003vra.4	-	27	5104	c.4875C>T	c.(4873-4875)atC>atT	p.I1625I	PLXNA4_uc003vqz.4_5'Flank	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1625						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGTGTACCGGATCATGTTTT	0.577000														57			78		0	0	0.003610	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525643	176525643	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:176525643C>T	uc001gkz.3	+	1	1349	c.185C>T	c.(184-186)tCt>tTt	p.S62F	PAPPA2_uc001gky.1_Missense_Mutation_p.S62F|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	62					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGAGCTTCTCCACAGCAT	0.557000														74			7		0	0	0.003080	0	0
NPSR1	387129	broad.mit.edu	37	7	34884512	34884512	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:34884512G>A	uc003teh.1	+	6	890	c.762G>A	c.(760-762)ggG>ggA	p.G254G	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.G254G|NPSR1_uc010kwt.1_Silent_p.G101G|NPSR1_uc010kwu.1_Silent_p.G44G|NPSR1_uc010kwv.1_Silent_p.G188G|NPSR1_uc003tei.1_Silent_p.G254G|NPSR1_uc010kww.1_Silent_p.G243G|NPSR1_uc011kar.1_Silent_p.G188G	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	254						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTACAGATGGGAAACTGTGCA	0.403000														35			7		0	0	0.003080	0	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:12187475C>G	uc002mtb.2	+	3	1683	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_uc010dym.1_Missense_Mutation_p.H357D	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000														18			3		0	0	0.004672	0	0
AIFM2	84883	broad.mit.edu	37	10	71880917	71880917	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:71880917G>A	uc010qjg.2	-	2	361	c.345C>T	c.(343-345)ttC>ttT	p.F115F	AIFM2_uc021psi.1_Silent_p.F115F|AIFM2_uc001jqp.2_Silent_p.F115F	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	115					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ACTTGCCCGGGAAGGGCCCAG	0.512000														24			28		0	0	0.001786	0	0
DHX36	170506	broad.mit.edu	37	3	154017629	154017629	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:154017629G>A	uc003ezy.4	-	11	1628	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	DHX36_uc010hvq.3_Missense_Mutation_p.S516L|DHX36_uc003ezz.4_Missense_Mutation_p.S516L	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	516	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CATAGTACCTGATTTAAACAT	0.333000														28			33		0	0	0.005524	0	0
GCOM1	145781	broad.mit.edu	37	15	57913897	57913897	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:57913897C>T	uc002aei.3	+	4	542	c.411_splice	c.e4+1	p.S137_splice	GCOM1_uc002aej.3_Splice_Site_p.S137_splice|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Splice_Site_p.S137_splice|GCOM1_uc002aep.3_Splice_Site|GCOM1_uc010bfx.3_Splice_Site|GCOM1_uc002aeq.3_Splice_Site|GCOM1_uc002aen.3_Splice_Site|GCOM1_uc010bfy.3_Splice_Site|GCOM1_uc002aeo.3_Splice_Site_p.S137_splice	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	137					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CAGGAACTATCAGTAAGTCAT	0.468000														65			21		0	0	0.002299	0	0
PRKCB	5579	broad.mit.edu	37	16	24043504	24043504	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:24043504C>T	uc002dmd.3	+	3	533	c.336C>T	c.(334-336)ccC>ccT	p.P112P	PRKCB_uc002dme.3_Silent_p.P112P	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	112					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ACTCCAGCCCCACGTTTTGTG	0.527000														22			5		0	0	0.001168	0	0
SENP1	29843	broad.mit.edu	37	12	48482619	48482619	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:48482619G>A	uc001rqx.3	-	4	791	c.345C>T	c.(343-345)agC>agT	p.S115S	SENP1_uc001rqw.3_Silent_p.S115S|SENP1_uc001rqy.3_5'UTR|SENP1_uc001rqz.3_5'UTR|SENP1_uc009zkx.3_Silent_p.S115S	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	115	Ser-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	SUMO-specific protease activity|endopeptidase activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				AAAGACTTCGGCTGTTTCTTG	0.428000														11			6		0	0	0.001984	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:19455440C>T	uc002dgc.4	+	3	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_uc010vaq.2_Missense_Mutation_p.R276C|TMC5_uc002dgb.4_Missense_Mutation_p.R276C|TMC5_uc010var.2_Missense_Mutation_p.R276C	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000														31			38		0	0	0.005524	0	0
TLN2	83660	broad.mit.edu	37	15	63127944	63127944	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:63127944C>T	uc002alb.4	+	52	7137	c.7137C>T	c.(7135-7137)tcC>tcT	p.S2379S	TLN2_uc002alc.4_Silent_p.S772S|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2379	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGGTGGGCTCCATCCCTGCCA	0.592000														90			21		0	0	0.004656	0	0
NEB	4703	broad.mit.edu	37	2	152541387	152541387	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:152541387C>T	uc021vrb.1	-	25	2769	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	NEB_uc002txu.3_Missense_Mutation_p.D914N|NEB_uc021vrc.1_Missense_Mutation_p.D914N|NEB_uc010fnx.3_Missense_Mutation_p.D914N|NEB_uc021vrd.1_Missense_Mutation_p.D914N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	914					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAATCAACGTCGCTGGCAATT	0.443000														8			17		0	0	0.004990	0	0
ETV7	51513	broad.mit.edu	37	6	36336837	36336837	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:36336837G>A	uc003omb.3	-	5	935	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	ETV7_uc003olz.2_Silent_p.L226L|ETV7_uc003oma.2_Silent_p.L171L|ETV7_uc003omc.3_Silent_p.L171L|ETV7_uc010jwj.3_Silent_p.L167L|ETV7_uc010jwi.3_Silent_p.L149L|ETV7_uc010jwh.3_Silent_p.L145L|ETV7_uc011dtl.2_Silent_p.L75L	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	226					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TAATCCCACAGCAGGCGGCAG	0.537000														51			17		0	0	0.006122	0	0
PNPLA7	375775	broad.mit.edu	37	9	140373553	140373553	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:140373553G>A	uc010ncj.1	-	23	3055	c.2718C>T	c.(2716-2718)ctC>ctT	p.L906L	PNPLA7_uc004cnd.1_Silent_p.L147L|PNPLA7_uc004cne.1_Silent_p.L147L|PNPLA7_uc011mfa.1_Silent_p.L289L|PNPLA7_uc004cnf.2_Silent_p.L881L	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	881					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCGGGCAGCAGAGGTGCAGGT	0.687000														4			6		0	0	0.003080	0	0
SLC41A2	84102	broad.mit.edu	37	12	105282952	105282952	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:105282952G>A	uc001tla.3	-	3	906	c.739C>T	c.(739-741)Cag>Tag	p.Q247*		NM_032148	NP_115524	Q96JW4	S41A2_HUMAN	Homo sapiens solute carrier family 41, member 2 (SLC41A2), mRNA.	247						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						ACTGTTGCCTGAACCTAAAAT	0.313000														16			23		0	0	0.003330	0	0
ADD2	119	broad.mit.edu	37	2	70931469	70931469	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:70931469G>A	uc021vjc.1	-	3	571	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.F102F|ADD2_uc002sgz.3_Silent_p.F102F|ADD2_uc010fdt.2_Silent_p.F102F|ADD2_uc002shc.2_Silent_p.F102F|ADD2_uc010fdu.2_Silent_p.F118F	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	102					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AAGATGTCGGGAAGACTGCGT	0.602000														46			18		0	0	0.008871	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945403	16945403	+	RNA	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:16945403G>A	uc010ocf.2	-	3		c.754C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GAAACCGCGGGATAGCTCGGT	0.597000														18			5		0	0	0.000602	0	0
MUC16	94025	broad.mit.edu	37	19	9070778	9070778	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9070778G>A	uc002mkp.3	-	2	16872	c.16668C>T	c.(16666-16668)atC>atT	p.I5556I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5558	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTTGTCATGATGGGGGAGG	0.502000														32			57		0	0	0.003610	0	0
PTPRN2	5799	broad.mit.edu	37	7	157475510	157475510	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:157475510G>A	uc003wno.3	-	12	2029	c.1908C>T	c.(1906-1908)atC>atT	p.I636I	PTPRN2_uc003wnp.3_Silent_p.I619I|PTPRN2_uc003wnq.3_Silent_p.I607I|PTPRN2_uc003wnr.3_Silent_p.I598I|PTPRN2_uc011kwa.2_Silent_p.I659I	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	636						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGAGGCAGTAGATGAGGCCAG	0.632000														34			56		0	0	0.003610	0	0
VCL	7414	broad.mit.edu	37	10	75857083	75857083	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:75857083G>A	uc001jwd.3	+	12	1959	c.1865G>A	c.(1864-1866)aGg>aAg	p.R622K	VCL_uc009xrr.3_Missense_Mutation_p.R371K|VCL_uc010qky.1_Missense_Mutation_p.R529K|VCL_uc001jwe.3_Missense_Mutation_p.R622K|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	622	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GCGCCTAACAGGGAAGAGGTG	0.502000														47			13		0	0	0.001855	0	0
DNAH1	25981	broad.mit.edu	37	3	52428605	52428605	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:52428605C>T	uc011bef.2	+	66	11012	c.10751C>T	c.(10750-10752)tCc>tTc	p.S3584F	DNAH1_uc003ddv.3_Missense_Mutation_p.S442F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3649					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)		CCAACCTTTTCCTCCTTCTCT	0.582000														9			14		0	0	0.004007	0	0
IL15	3600	broad.mit.edu	37	4	142649103	142649103	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:142649103T>A	uc003iis.3	+	5	580	c.206T>A	c.(205-207)aTt>aAt	p.I69N	IL15_uc010iol.3_Missense_Mutation_p.I42N|IL15_uc003iit.3_Missense_Mutation_p.I69N	NM_000585	NP_000576	P40933	IL15_HUMAN	Homo sapiens interleukin 15 (IL15), transcript variant 3, mRNA.	69					cell-cell signaling|immune response|positive regulation of interleukin-17 production	Golgi apparatus|endosome|extracellular space|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TCTATGCATATTGATGCTACT	0.254000														24			12		0	0	0.002450	0	0
SLC26A11	284129	broad.mit.edu	37	17	78222958	78222958	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:78222958C>T	uc002jyb.2	+	15	1834	c.1528C>T	c.(1528-1530)Ccg>Tcg	p.P510S	SLC26A11_uc002jyc.2_Missense_Mutation_p.P510S|SLC26A11_uc002jyd.2_Missense_Mutation_p.P510S|SLC26A11_uc010dhv.2_Missense_Mutation_p.P510S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	510	STAS.					Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCCAGTGTCCCCGCCACGCTG	0.662000														4			7		0	0	0.004482	0	0
TIAM2	26230	broad.mit.edu	37	6	155458691	155458691	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:155458691G>A	uc003qqb.3	+	6	2848	c.1575G>A	c.(1573-1575)agG>agA	p.R525R	TIAM2_uc003qqe.3_Silent_p.R525R|TIAM2_uc010kjj.3_Silent_p.R58R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	525	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAAGGAAAGGAAGCTTGAGC	0.562000														9			21		0	0	0.001882	0	0
DNAH7	56171	broad.mit.edu	37	2	196913086	196913086	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:196913086G>A	uc002utj.4	-	3	285	c.184C>T	c.(184-186)Cat>Tat	p.H62Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	62	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACACTCAAATGGAATGATGGA	0.348000														38			28		0	0	0.002096	0	0
TDRD5	163589	broad.mit.edu	37	1	179620094	179620094	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:179620094C>T	uc010pnp.2	+	11	2411	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	TDRD5_uc021pfm.1_Silent_p.I631I|TDRD5_uc001gnf.2_Silent_p.I631I|TDRD5_uc021pfn.1_Silent_p.I631I|TDRD5_uc001gnh.2_Silent_p.I186I	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	631					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGATGGAATCCTTAACATTT	0.403000														28			44		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140222098	140222098	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:140222098G>A	uc003lhs.2	+	0	1192	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.V398M	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	412	Cadherin 4.				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)			CTTCAAGCTGGTGTCCACCTT	0.587000														40			73		0	0	0.003610	0	0
ETV3L	440695	broad.mit.edu	37	1	157067719	157067719	+	Missense_Mutation	SNP	G	A	A	rs148705550	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:157067719G>A	uc001fqq.2	-	3	833	c.548C>T	c.(547-549)aCc>aTc	p.T183I		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCCTCGGGGGGTCTGCTGTCC	0.622000														35			6		0	0	0.001168	0	0
SDK1	221935	broad.mit.edu	37	7	4153707	4153707	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:4153707C>T	uc003smx.3	+	24	3763	c.3624C>T	c.(3622-3624)tcC>tcT	p.S1208S	SDK1_uc010kso.3_Silent_p.S484S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1208	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACCCCGAGTCCGTGGGCTACA	0.587000														19			25		0	0	0.002780	0	0
CCNY	219771	broad.mit.edu	37	10	35819114	35819114	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:35819114C>T	uc001iyw.4	+	6	702	c.522C>T	c.(520-522)ttC>ttT	p.F174F	CCNY_uc001iyu.4_Silent_p.F120F|CCNY_uc001iyv.4_Silent_p.F120F|CCNY_uc001iyx.4_Silent_p.F120F|CCNY_uc009xmb.3_Silent_p.F149F|CCNY_uc010qet.2_Silent_p.F41F	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	174	Cyclin N-terminal.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TTTACCGGTTCGTTCGGACAC	0.532000														35			6		0	0	0.001984	0	0
HRH1	3269	broad.mit.edu	37	3	11301227	11301227	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:11301227C>T	uc010hdr.3	+	1	846	c.504C>T	c.(502-504)ttC>ttT	p.F168F	HRH1_uc010hds.3_Silent_p.F168F|HRH1_uc010hdt.3_Silent_p.F168F|HRH1_uc003bwb.4_Silent_p.F168F|HRH1_uc021wtb.1_Silent_p.F168F	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	168					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGAATCACTTCATGCAGCAGA	0.517000														32			23		0	0	0.006320	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714776	92714776	+	Silent	SNP	C	T	T	rs147960983		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:92714776C>T	uc001pdk.1	+	1	490	c.387C>T	c.(385-387)ttC>ttT	p.F129F		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	129					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCTCTGTCTTCAATATCACTG	0.592000														63			105		0	0	0.003610	0	0
ABHD16A	7920	broad.mit.edu	37	6	31655432	31655432	+	Silent	SNP	G	A	A	rs141653752		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31655432G>A	uc003nvy.2	-	17	1612	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	ABHD16A_uc003nvx.2_Silent_p.F292F|ABHD16A_uc011dny.2_Silent_p.F478F|ABHD16A_uc010jtc.2_Silent_p.F292F|ABHD16A_uc011dnz.2_Silent_p.F292F	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	511						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						CGCTCCAGGGGAAGTCGGGCC	0.597000														216			73		0	0	0.003610	0	0
FABP2	2169	broad.mit.edu	37	4	120241869	120241869	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:120241869C>T	uc003icw.3	-	1	255	c.196G>A	c.(196-198)Ggt>Agt	p.G66S		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	66							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						AAGGTGACACCAAGTTCAAAA	0.323000														26			20		0	0	0.002299	0	0
INO80D	54891	broad.mit.edu	37	2	206869260	206869260	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:206869260G>A	uc002vaz.4	-	10	3321	c.2916C>T	c.(2914-2916)ctC>ctT	p.L972L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	0					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TGAACTGAGGGAGTTGCTGCT	0.592000														6			7		0	0	0.004482	0	0
TIAM1	7074	broad.mit.edu	37	21	32554834	32554834	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:32554834C>T	uc002yow.1	-	15	3263	c.2791G>A	c.(2791-2793)Gag>Aag	p.E931K	TIAM1_uc011adk.1_Missense_Mutation_p.E931K|TIAM1_uc011adl.1_Missense_Mutation_p.E871K	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	931					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACTCCTTCCTCCAGCTCGGGG	0.612000														9			22		0	0	0.002780	0	0
ITGAL	3683	broad.mit.edu	37	16	30507601	30507601	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:30507601C>T	uc002dyi.4	+	13	1863	c.1687C>T	c.(1687-1689)Ccc>Tcc	p.P563S	ITGAL_uc002dyj.4_Missense_Mutation_p.P480S|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	563					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GGGGCTTAGTCCCCAGCCAAG	0.627000														35			38		0	0	0.005524	0	0
ABP1	26	broad.mit.edu	37	7	150558089	150558089	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150558089C>T	uc003why.1	+	5	6266	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	ABP1_uc003whz.1_Missense_Mutation_p.P683L|ABP1_uc003wia.1_Missense_Mutation_p.P702L	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	683					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GAGGACATTCCCAACACAGCC	0.622000														36			12		0	0	0.001855	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817413	26817413	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:26817413G>A	uc010wan.2	+	2	387	c.320G>A	c.(319-321)gGg>gAg	p.G107E	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Intron|SLC13A2_uc002hbh.3_Intron|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_Intron	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	66						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CATAACCTCGGGGGCACCGTG	0.552000														23			35		0	0	0.006230	0	0
WWC3	55841	broad.mit.edu	37	X	10092359	10092359	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:10092359C>T	uc004csx.4	+	12	2004	c.1806C>T	c.(1804-1806)ccC>ccT	p.P602P	WWC3_uc010nds.3_Silent_p.P266P|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	602										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACGGAGATCCCCAGATCCACG	0.602000														15			26		0	0	0.004656	0	0
ACACA	31	broad.mit.edu	37	17	35615257	35615257	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:35615257G>A	uc002hnm.3	-	12	1619	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	ACACA_uc002hnk.3_Silent_p.I398I|ACACA_uc002hnl.3_Silent_p.I418I|ACACA_uc002hnn.3_Silent_p.I476I|ACACA_uc002hno.3_Silent_p.I513I|ACACA_uc010cuz.3_Silent_p.I476I	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	476	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACATCATACGGATATCCTTGA	0.418000														13			37		0	0	0.005524	0	0
LARP4B	23185	broad.mit.edu	37	10	863676	863676	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:863676A>T	uc001ifs.1	-	13	1725	c.1684T>A	c.(1684-1686)Tcc>Acc	p.S562T		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	562							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTTTCTTTGGATGGTCCTATT	0.473000														122			97		0	0	0.003610	0	0
KIAA1751	85452	broad.mit.edu	37	1	1918470	1918470	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:1918470C>T	uc001aim.1	-	4	457	c.301G>A	c.(301-303)Gag>Aag	p.E101K	KIAA1751_uc009vkz.1_Missense_Mutation_p.E101K|KIAA1751_uc001ain.1_Missense_Mutation_p.E101K	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	101										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCGCGCAGCTCCCCTCTGGAA	0.617000														34			18		0	0	0.007413	0	0
HOXC11	3227	broad.mit.edu	37	12	54367345	54367345	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:54367345C>T	uc001sem.3	+	0	436	c.320C>T	c.(319-321)cCt>cTt	p.P107L		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	107					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						TGCCTGCCTCCTTCCACCGTC	0.652000			T	NUP98	AML									85			76		0	0	0.003610	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657456	46657456	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:46657456C>T	uc003bhh.3	-	0	1764	c.1764G>A	c.(1762-1764)agG>agA	p.R588R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	588	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CGTGCTTATCCCTAAAATTAC	0.368000														33			20		0	0	0.008871	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359786	77359786	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:77359786C>T	uc002ffc.4	-	12	2428	c.2009G>A	c.(2008-2010)tGg>tAg	p.W670*	ADAMTS18_uc010chc.1_Nonsense_Mutation_p.W258*|ADAMTS18_uc002ffe.1_Nonsense_Mutation_p.W366*	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	670	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATAGGGTTTCCACTGGTAGAA	0.378000														33			15		0	0	0.008871	0	0
OR10H4	126541	broad.mit.edu	37	19	16060709	16060709	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:16060709G>A	uc010xov.2	+	0	892	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						AAGGAACAAGGAGCTGAAGAA	0.433000														24			53		0	0	0.003610	0	0
CHMP7	91782	broad.mit.edu	37	8	23114091	23114091	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:23114091C>T	uc003xdc.2	+	4	1424	c.776C>T	c.(775-777)tCc>tTc	p.S259F	CHMP7_uc011kzs.1_Non-coding_Transcript|CHMP7_uc003xdd.2_Missense_Mutation_p.S149F|CHMP7_uc003xde.2_Missense_Mutation_p.S117F	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	259					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity	p.S259S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GAGTCCTTATCCCAGGAAGCA	0.517000														117			33		0	0	0.003755	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676920	7676920	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:7676920C>T	uc002mgu.4	+	12	1723	c.1622C>T	c.(1621-1623)aCc>aTc	p.T541I	CAMSAP3_uc002mgv.4_Missense_Mutation_p.T514I|CAMSAP3_uc002mgw.3_5'Flank	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	514	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	p.P540T(1)		cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						GACAGGCCCACCAAAGCACCA	0.662000														10			12		0	0	0.001368	0	0
OR7D2	162998	broad.mit.edu	37	19	9296535	9296535	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:9296535C>T	uc002mkz.1	+	0	266	c.78C>T	c.(76-78)ttC>ttT	p.F26F		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	26					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F26L(2)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TACAGCCGTTCATATTTGGGC	0.493000														4			16		0	0	0.004007	0	0
TAF8	129685	broad.mit.edu	37	6	42044897	42044897	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:42044897G>A	uc003ort.3	+	8	991	c.962G>A	c.(961-963)cGg>cAg	p.R321Q	TAF8_uc003ors.3_Silent_p.S280S|TAF8_uc003oru.1_Missense_Mutation_p.R321Q|TAF8_uc003orv.1_Silent_p.S280S|TAF8_uc011dun.2_Silent_p.S204S			Q7Z7C8	TAF8_HUMAN	Homo sapiens TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa (TAF8), mRNA.	0					cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CCTCCTTGTCGGGTAGCCGGA	0.532000														43			44		0	0	0.003610	0	0
OR10K2	391107	broad.mit.edu	37	1	158390631	158390631	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:158390631A>C	uc010pii.2	-	0	26	c.26T>G	c.(25-27)gTg>gGg	p.V9G		NM_001004476	NP_001004476	Q6IF99	O10K2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V8L(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GACCTCTCTCACCACAGTCTC	0.502000														25			6		0	0	0.001168	0	0
MLL2	8085	broad.mit.edu	37	12	49422739	49422739	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:49422739A>T	uc001rta.4	-	44	14254	c.14254T>A	c.(14254-14256)Ttc>Atc	p.F4752I		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4752					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTATCTGGGAAGACTGAATGA	0.547000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				149			24		0	0	0.007291	0	0
S1PR5	53637	broad.mit.edu	37	19	10624658	10624658	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:10624658C>T	uc021uox.1	-	0	1030	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T	S1PR5_uc002mot.2_Missense_Mutation_p.A344T|S1PR5_uc002mou.2_Missense_Mutation_p.A344T	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.	344						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						CCCCCGGAAGCCTCAGCCGCG	0.756000														3			4		0	0	0.000602	0	0
FGR	2268	broad.mit.edu	37	1	27949640	27949640	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:27949640A>C	uc001boj.3	-	1	388	c.242T>G	c.(241-243)cTg>cGg	p.L81R	FGR_uc001bok.3_Missense_Mutation_p.L81R|FGR_uc001bol.3_Missense_Mutation_p.L81R|FGR_uc001bom.3_Missense_Mutation_p.L81R	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	81	SH3.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGCAATGAACAGGGTCACCCC	0.562000														16			22		0	0	0.002780	0	0
CST11	140880	broad.mit.edu	37	20	23433416	23433416	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:23433416G>A	uc002wtf.1	-	0	67	c.33C>T	c.(31-33)ctC>ctT	p.L11L	CST11_uc002wtg.1_Silent_p.L11L	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	11					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGGCCAACAGGAGCTGTAGGG	0.512000														18			5		0	0	0.000602	0	0
MLC1	23209	broad.mit.edu	37	22	50523268	50523268	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:50523268G>A	uc003bjg.1	-	1	337	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	MLC1_uc011arl.1_Missense_Mutation_p.R22W|MLC1_uc003bjh.1_Missense_Mutation_p.R22W|MLC1_uc011arm.1_Missense_Mutation_p.R22W|MLC1_uc011arn.1_Intron|MLC1_uc011aro.1_Missense_Mutation_p.R22W	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	22						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GGGTCTTGCCGGCCCCGCTCC	0.637000														24			12		0	0	0.001368	0	0
SCN11A	11280	broad.mit.edu	37	3	38889207	38889207	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:38889207G>A	uc021wvy.1	-	25	4553	c.4354C>T	c.(4354-4356)Cag>Tag	p.Q1452*		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1452					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTGCTCCTGATTTTCCAAG	0.507000														4			16		0	0	0.007413	0	0
MMRN1	22915	broad.mit.edu	37	4	90816651	90816651	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:90816651C>T	uc003hst.3	+	0	600	c.529C>T	c.(529-531)Cga>Tga	p.R177*	MMRN1_uc010iku.3_Nonsense_Mutation_p.R143*	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	177					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		cGTGGGAAATCGAGCCCCACG	0.493000														30			6		0	0	0.001984	0	0
TM4SF4	7104	broad.mit.edu	37	3	149205420	149205420	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:149205420G>A	uc003exd.2	+	2	576	c.279G>A	c.(277-279)acG>acA	p.T93T		NM_004617	NP_004608	P48230	T4S4_HUMAN	Homo sapiens transmembrane 4 L six family member 4 (TM4SF4), mRNA.	93						integral to membrane		p.T93T(2)		large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCACCTCCACGATATTTGCTG	0.448000														35			9		0	0	0.004482	0	0
SORL1	6653	broad.mit.edu	37	11	121428058	121428058	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:121428058C>T	uc001pxx.3	+	18	2736	c.2607C>T	c.(2605-2607)atC>atT	p.I869I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	869					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GACTCACAATCGTCAATTCCT	0.522000														21			39		0	0	0.003610	0	0
CDH13	1012	broad.mit.edu	37	16	83378478	83378478	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:83378478G>A	uc010vns.2	+	6	1053	c.789G>A	c.(787-789)gaG>gaA	p.E263E	CDH13_uc002fgx.3_Silent_p.E216E|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Silent_p.E177E	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	216	Cadherin 2.				Rac protein signal transduction|Rho protein signal transduction|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|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|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)		TATTTGTGGAGACCACTGATG	0.423000														37			29		0	0	0.002096	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102036929	102036929	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:102036929C>T	uc011kkr.1	+	0	126	c.71C>T	c.(70-72)cCc>cTc	p.P24L	PRKRIP1_uc011kkq.1_Intron|PRKRIP1_uc003uzh.2_Missense_Mutation_p.P24L			Q9H875	PKRI1_HUMAN	Homo sapiens PRKR interacting protein 1 (IL11 inducible) (PRKRIP1), mRNA.	24	Interaction with EIF2AK2 (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						CTCGTCATCCCCAAGAATGCG	0.672000														18			15		0	0	0.004990	0	0
SNTG1	54212	broad.mit.edu	37	8	51664574	51664574	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:51664574G>A	uc010lxy.1	+	18	1669	c.1298G>A	c.(1297-1299)aGg>aAg	p.R433K	SNTG1_uc003xqs.1_Missense_Mutation_p.R433K|SNTG1_uc010lxz.1_Intron|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	433					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTCCTTTGGAGGTATAAATTC	0.333000														58			13		0	0	0.003163	0	0
VPS13B	157680	broad.mit.edu	37	8	100443785	100443785	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:100443785C>T	uc003yiv.3	+	21	3214	c.3103C>T	c.(3103-3105)Cct>Tct	p.P1035S	VPS13B_uc003yiw.3_Missense_Mutation_p.P1035S|VPS13B_uc003yiu.1_Missense_Mutation_p.P1035S|VPS13B_uc003yix.1_Missense_Mutation_p.P505S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1035					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATTGTCAGTTCCTGTTAAAGC	0.343000														39			24		0	0	0.007291	0	0
CNTN3	5067	broad.mit.edu	37	3	74315713	74315714	+	Missense_Mutation	DNP	CC	TT	TT	rs141145151		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:74315713_74315714CC>TT	uc003dpm.1	-	20	2984_2985	c.2904_2905GG>AA	c.(2902-2907)gaggac>gaAAac	p.D969N		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	969	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATAATGTAGTCCTCTTTAATGG	0.406000														29			54		0	0	0.004672	0	0
NLRP9	338321	broad.mit.edu	37	19	56243801	56243801	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:56243801G>A	uc002qly.3	-	1	1424	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	466						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GCCGGGTTAGGATCGTCTTTG	0.478000														23			44		0	0	0.003610	0	0
ZNF107	51427	broad.mit.edu	37	7	64167562	64167562	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:64167562C>T	uc003ttd.3	+	6	1666	c.880C>T	c.(880-882)Cat>Tat	p.H294Y	ZNF107_uc003tte.3_Missense_Mutation_p.H294Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GGAGAAAATTCATACTGGAGG	0.353000														30			38		0	0	0.002522	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098951	220098951	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:220098951G>A	uc002vkg.3	+	8	1319	c.1145G>A	c.(1144-1146)aGa>aAa	p.R382K	ANKZF1_uc010zkv.1_Missense_Mutation_p.R326K|ANKZF1_uc010zkw.1_Missense_Mutation_p.R172K|ANKZF1_uc002vkh.3_Missense_Mutation_p.R172K|ANKZF1_uc002vki.3_Missense_Mutation_p.R382K|ANKZF1_uc002vkj.1_Missense_Mutation_p.R370K	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	382						intracellular	zinc ion binding	p.I381V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAAATAAGAAAGATCTGC	0.473000														52			13		0	0	0.002450	0	0
VNN2	8875	broad.mit.edu	37	6	133070844	133070844	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:133070844C>T	uc003qdt.3	-	5	1372	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	VNN2_uc003qds.3_Missense_Mutation_p.G163E|VNN2_uc010kgb.3_Missense_Mutation_p.G233E|VNN2_uc003qdv.3_Missense_Mutation_p.G401E	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	454					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTCAAATTTTCCAGGTGACAG	0.368000														7			9		0	0	0.008291	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955837	51955837	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:51955837G>A	uc002pwt.3	-	6	1363	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P	SIGLEC8_uc010yda.2_Silent_p.P323P|SIGLEC8_uc002pwu.3_Intron|SIGLEC8_uc010eox.2_Silent_p.P339P	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	432					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAACAGCTGGGGGAGGCTTCT	0.592000														12			23		0	0	0.002299	0	0
SCN7A	6332	broad.mit.edu	37	2	167262975	167262975	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:167262975G>A	uc002udu.2	-	24	4294	c.4164C>T	c.(4162-4164)ttC>ttT	p.F1388F	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1388					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ACATGACCAGGAAGATGAGAA	0.378000														36			14		0	0	0.001855	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21054389	21054389	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr12:21054389C>T	uc010sil.2	+	12	1918	c.1853C>T	c.(1852-1854)tCc>tTc	p.S618F	SLCO1B3_uc001rek.3_Missense_Mutation_p.S618F|SLCO1B3_uc001rel.3_Missense_Mutation_p.S618F|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	618					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.S618S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATATATAATTCCGTATTTTTT	0.338000														73			29		0	0	0.001786	0	0
OR2T12	127064	broad.mit.edu	37	1	248458168	248458168	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:248458168G>T	uc010pzj.2	-	0	713	c.713C>A	c.(712-714)aCc>aAc	p.T238N		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237D(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGAAGAGCAGGTGGCAAAGGC	0.522000														70			7		0.00448238	0.00680901	0.004482	1	0
BBS1	582	broad.mit.edu	37	11	66272217	66272217	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:66272217C>T	uc001oih.1	+	1	315	c.116C>T	c.(115-117)tCa>tTa	p.S39L	DPP3_uc001oig.1_Silent_p.L671L|DPP3_uc001oif.1_Silent_p.L671L|DPP3_uc010rpe.1_Silent_p.L660L			Q8NFJ9	BBS1_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	0					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CTCGGAAGCTCATTGTTCAGC	0.577000									Bardet-Biedl syndrome					26			40		0	0	0.003214	0	0
OGT	8473	broad.mit.edu	37	X	70782856	70782856	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:70782856C>T	uc004eaa.2	+	15	2375	c.2137C>T	c.(2137-2139)Cct>Tct	p.P713S	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.P703S|OGT_uc004eac.3_Missense_Mutation_p.P574S|OGT_uc004ead.3_Missense_Mutation_p.P332S	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	713					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TAATATGTTCCCTCACCTGAA	0.388000														15			28		0	0	0.001786	0	0
BCL9L	283149	broad.mit.edu	37	11	118770160	118770160	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:118770160G>A	uc001pug.3	-	7	4429	c.3464C>T	c.(3463-3465)cCt>cTt	p.P1155L	BCL9L_uc009zal.3_Missense_Mutation_p.P1150L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1155	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CATGCCCATAGGGCTCTGGGC	0.652000														3			8		0	0	0.000978	0	0
SCARA3	51435	broad.mit.edu	37	8	27516076	27516076	+	Missense_Mutation	SNP	G	A	A	rs34791518	byFrequency	TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:27516076G>A	uc003xga.1	+	4	530	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	SCARA3_uc003xgb.1_Missense_Mutation_p.R130Q	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	130			R -> Q (in dbSNP:rs34791518).		UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCAGAGATCCGAAAACTGCAG	0.562000														50			51		0	0	0.003610	0	0
THSD7A	221981	broad.mit.edu	37	7	11485797	11485797	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:11485797C>T	uc021zzo.1	-	12	3207	c.2955G>A	c.(2953-2955)atG>atA	p.M985I	THSD7A_uc021zzn.1_Missense_Mutation_p.M985I	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	985	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTTGTACTTTCATTCCCAGCA	0.433000										HNSCC(18;0.044)				116			30		0	0	0.007291	0	0
TFEC	22797	broad.mit.edu	37	7	115624483	115624483	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:115624483G>A	uc003vhj.2	-	1	266	c.13C>T	c.(13-15)Cat>Tat	p.H5Y	TFEC_uc003vhk.2_Missense_Mutation_p.H5Y|TFEC_uc003vhl.4_Missense_Mutation_p.H5Y|TFEC_uc011kmw.2_Missense_Mutation_p.H95Y	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	5	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ATGATCTGATGATCAAGGGTC	0.478000														35			48		0	0	0.003610	0	0
PLCB1	23236	broad.mit.edu	37	20	8698344	8698344	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr20:8698344C>T	uc002wnb.3	+	13	1365	c.1362C>T	c.(1360-1362)agC>agT	p.S454S	PLCB1_uc010zrb.1_Silent_p.S353S|PLCB1_uc002wna.3_Silent_p.S454S|PLCB1_uc002wnc.1_Silent_p.S353S|PLCB1_uc002wnd.1_Silent_p.S31S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	454	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTCTTCCAAGCCCTATGGATT	0.408000														42			20		0	0	0.003954	0	0
FAM76A	199870	broad.mit.edu	37	1	28075618	28075618	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:28075618C>T	uc001bor.3	+	6	756	c.654C>T	c.(652-654)atC>atT	p.I218I	FAM76A_uc009vtb.3_Silent_p.I184I|FAM76A_uc001boq.3_Silent_p.I184I|FAM76A_uc001bos.3_Intron|FAM76A_uc001bot.3_Intron|FAM76A_uc010ofm.2_Intron	NM_001143912	NP_001137384	Q8TAV0	FA76A_HUMAN	Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA.	184										endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		AAAATGAAATCCCAAAGAAAA	0.358000														14			6		0	0	0.001984	0	0
C5orf34	375444	broad.mit.edu	37	5	43506360	43506360	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:43506360T>A	uc003jnz.2	-	3	824	c.422A>T	c.(421-423)cAt>cTt	p.H141L	C5orf34_uc011cpx.2_Missense_Mutation_p.H27L	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	141										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TGTAAATTCATGCTGAGATCT	0.378000														42			23		0	0	0.003954	0	0
ANP32C	23520	broad.mit.edu	37	4	165118365	165118365	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr4:165118365C>T	uc011cjk.2	-	0	499	c.499G>A	c.(499-501)Gag>Aag	p.E167K	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	167	Asp/Glu-rich (highly acidic).									NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		TCACCCTCCTCCTCGTCATCC	0.557000														25			19		0	0	0.006122	0	0
SLC9A4	389015	broad.mit.edu	37	2	103095587	103095587	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:103095587G>A	uc002tbz.4	+	1	1003	c.546G>A	c.(544-546)caG>caA	p.Q182Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	182					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCATCTGCCAGGTGAAGGCCT	0.617000														29			6		0	0	0.001984	0	0
EFHB	151651	broad.mit.edu	37	3	19924167	19924167	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:19924167G>A	uc003cbl.4	-	11	2399	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	EFHB_uc003cbm.3_Missense_Mutation_p.R605C	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	735					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTGATGCGACGAATTCGGGGA	0.418000														6			8		0	0	0.006214	0	0
CELSR1	9620	broad.mit.edu	37	22	46807619	46807619	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr22:46807619G>T	uc003bhw.1	-	5	4649	c.4649C>A	c.(4648-4650)tCc>tAc	p.S1550Y	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1550	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTTTCCCCGGACGGCCCATG	0.587000														78			9		1.76689e-08	2.69811e-08	0.006214	1	0
CACNB4	785	broad.mit.edu	37	2	152739857	152739857	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:152739857G>A	uc002tya.3	-	2	243	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	CACNB4_uc002txy.3_Missense_Mutation_p.P25S|CACNB4_uc002txz.3_Missense_Mutation_p.P41S|CACNB4_uc010fnz.3_Missense_Mutation_p.P59S|CACNB4_uc021vre.1_Missense_Mutation_p.P25S|CACNB4_uc002tyb.2_Missense_Mutation_p.P25S	NM_000726	NP_000717	O00305	CACB4_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA.	59					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	GAGTCAGACGGCCTGCTTGTG	0.468000														40			40		0	0	0.003610	0	0
C14orf105	55195	broad.mit.edu	37	14	57960358	57960358	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:57960358G>A	uc010trl.1	-	0	219	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	C14orf105_uc001xcy.2_Missense_Mutation_p.P26S|C14orf105_uc010trm.1_5'UTR|C14orf105_uc010trn.1_5'UTR|C14orf105_uc001xcz.2_Missense_Mutation_p.P26S|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_5'UTR	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	26										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCAGCCGAGGGAGTCTCTACC	0.453000														15			20		0	0	0.001523	0	0
B3GNT3	10331	broad.mit.edu	37	19	17918754	17918754	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:17918754C>T	uc002nhl.1	+	1	285	c.138C>T	c.(136-138)gcC>gcT	p.A46A	B3GNT3_uc010ebd.1_Silent_p.A46A|B3GNT3_uc010ebe.1_Silent_p.A46A	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	46					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TCCCCGAGGCCCTGGCCTGGC	0.682000														5			12		0	0	0.000978	0	0
RASAL2	9462	broad.mit.edu	37	1	178425968	178425968	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:178425968C>T	uc001glq.3	+	12	3088	c.2324C>T	c.(2323-2325)tCc>tTc	p.S775F	RASAL2_uc001glr.3_Missense_Mutation_p.S634F|RASAL2_uc009wxc.3_Missense_Mutation_p.S148F	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	634					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GAACATAACTCCAGTCCAAAT	0.458000														72			58		0	0	0.003610	0	0
OR5V1	81696	broad.mit.edu	37	6	29323269	29323269	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:29323269C>T	uc011dlo.2	-	0	786	c.704G>A	c.(703-705)cGa>cAa	p.R235Q		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily V, member 1 (OR5V1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAGGCTTTTCGTCTTCCCTC	0.458000														45			20		0	0	0.007413	0	0
RGS3	5998	broad.mit.edu	37	9	116346160	116346160	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:116346160C>T	uc004bhq.3	+	20	2677	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	RGS3_uc004bhs.3_Missense_Mutation_p.S713F|RGS3_uc004bht.3_Missense_Mutation_p.S542F|RGS3_uc010muy.3_Intron|RGS3_uc004bhv.3_Missense_Mutation_p.S144F|RGS3_uc010muz.1_Missense_Mutation_p.S162F|RGS3_uc004bhw.3_Intron|RGS3_uc011lxh.2_Missense_Mutation_p.S144F|RGS3_uc004bhx.3_Missense_Mutation_p.S144F|RGS3_uc004bhy.1_Missense_Mutation_p.S133F|RGS3_uc004bhz.3_Missense_Mutation_p.S165F	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	823					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCCAGGTCTCCCTGCCAGCC	0.637000														24			30		0	0	0.002445	0	0
C8B	732	broad.mit.edu	37	1	57395138	57395138	+	Missense_Mutation	SNP	G	A	A	rs140422613		TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:57395138G>A	uc001cyp.3	-	11	1782	c.1715C>T	c.(1714-1716)cCt>cTt	p.P572L	C8B_uc010oon.2_Missense_Mutation_p.P510L|C8B_uc010ooo.2_Missense_Mutation_p.P520L	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	572	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ATTTTGAGGAGGTGGATTGTT	0.483000														25			8		0	0	0.006214	0	0
SLC9C1	285335	broad.mit.edu	37	3	111899473	111899473	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:111899473C>T	uc003dyu.3	-	21	2908	c.2686G>A	c.(2686-2688)Gat>Aat	p.D896N	SLC9C1_uc011bhu.2_Missense_Mutation_p.D159N|SLC9C1_uc010hqc.3_Missense_Mutation_p.D848N	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	896					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TCAAATATATCATTTCCACAA	0.308000														31			5		0	0	0.003080	0	0
N6AMT1	29104	broad.mit.edu	37	21	30252202	30252202	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr21:30252202G>A	uc002ymo.1	-	3	412	c.386C>T	c.(385-387)cCa>cTa	p.P129L	N6AMT1_uc002ymp.1_Intron|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA.	129					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						CTCTTGAGGTGGAGTCACTAC	0.323000														91			21		0	0	0.002780	0	0
TEX30	93081	broad.mit.edu	37	13	103418798	103418798	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:103418798A>T	uc001vpo.3	-	5	815	c.637T>A	c.(637-639)Ttg>Atg	p.L213M	TEX30_uc001vpn.3_Missense_Mutation_p.L172M	NM_138779	NP_620134	Q5JUR7	CM027_HUMAN	Homo sapiens chromosome 13 open reading frame 27 (C13orf27), mRNA.	213										lung(1)|urinary_tract(1)	2						ATCCAAAACAAAATCTGTGTA	0.343000														7			10		0	0	0.006214	0	0
SLIT1	6585	broad.mit.edu	37	10	98790525	98790526	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:98790525_98790526GG>AA	uc001kmw.2	-	24	2822_2823	c.2570_2571CC>TT	c.(2569-2571)tcc>tTT	p.S857F		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	857					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTGAGACAGGGAGGTCACGTC	0.545000														18			46		0	0	0.004672	0	0
ZNF768	79724	broad.mit.edu	37	16	30536451	30536451	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr16:30536451C>T	uc002dyk.4	-	1	1186	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	ZNF768_uc010vex.2_Missense_Mutation_p.R306H|ZNF768_uc010vew.2_Missense_Mutation_p.R306H	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	337					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding	p.Q336K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGAGTGAGTGCGCTGGTGGCG	0.632000														10			4		0	0	0.000248	0	0
THSD7B	80731	broad.mit.edu	37	2	138329995	138329995	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:138329995G>A	uc002tva.1	+	15	3202	c.3202G>A	c.(3202-3204)Ggt>Agt	p.G1068S	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.G1101S(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TACTGCGGATGGTGAAGGTGG	0.403000														12			15		0	0	0.004007	0	0
CCDC144C	348254	broad.mit.edu	37	17	20242896	20242896	+	RNA	SNP	A	G	G			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:20242896A>G	uc010cqy.1	+	4		c.985A>G								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						ATGCGGATTGAACAAGGCAAA	0.358000														25			29		0	0	0.001786	0	0
GIN1	54826	broad.mit.edu	37	5	102432395	102432395	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr5:102432395G>A	uc003koa.1	-	6	1226	c.1144C>T	c.(1144-1146)Cgt>Tgt	p.R382C	GIN1_uc003kob.1_Missense_Mutation_p.R235C|GIN1_uc003koc.1_Intron	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA.	382					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GACTGAAAACGACCATCCTTC	0.378000														42			59		0	0	0.003610	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891899	173891899	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:173891899C>T	uc002uhv.4	+	24	2657	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*	RAPGEF4_uc002uhw.4_Nonsense_Mutation_p.Q680*	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	824	Ras-GEF.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TAATGAAATTCAGTTTTGGGT	0.358000														71			15		0	0	0.002450	0	0
THSD7B	80731	broad.mit.edu	37	2	137814169	137814169	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:137814169G>A	uc002tva.1	+	1	226	c.226G>A	c.(226-228)Gag>Aag	p.E76K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.S76R(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTTCAGTGGGAGGTTTCTGA	0.537000														12			20		0	0	0.008871	0	0
WEE2	494551	broad.mit.edu	37	7	141408682	141408682	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:141408682G>A	uc003vwn.2	+	0	530	c.124G>A	c.(124-126)Gag>Aag	p.E42K	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	42					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCAAACCCCAGAGAAGGGTGA	0.473000														99			18		0	0	0.007413	0	0
HSPG2	3339	broad.mit.edu	37	1	22150814	22150814	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:22150814C>T	uc009vqd.3	-	93	12843	c.12803G>A	c.(12802-12804)gGg>gAg	p.G4268E	LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.3_Missense_Mutation_p.G284E|HSPG2_uc001bfj.3_Missense_Mutation_p.G4267E	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	4267	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACAAGGTGCCCGTCTTGAAG	0.657000														51			38		0	0	0.006999	0	0
SLC30A8	169026	broad.mit.edu	37	8	118169949	118169949	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr8:118169949C>T	uc003yoh.3	+	3	668	c.438C>T	c.(436-438)ctC>ctT	p.L146L	SLC30A8_uc010mcz.3_Silent_p.L97L|SLC30A8_uc003yog.3_Silent_p.L97L|SLC30A8_uc011lia.2_Silent_p.L97L|SLC30A8_uc022bab.1_Silent_p.L97L	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	146					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GTGCCCTGCTCTCCATCCTGT	0.517000														189			166		0	0	0.003610	0	0
MAB21L3	126868	broad.mit.edu	37	1	116670178	116670178	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:116670178G>A	uc001egc.1	+	4	838	c.573G>A	c.(571-573)gtG>gtA	p.V191V		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	191										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TCCCCGCAGTGGAGATCCCCA	0.587000														29			36		0	0	0.004289	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530396	5530396	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:5530396G>A	uc021qcw.1	-	0	393	c.393C>T	c.(391-393)gcC>gcT	p.A131A	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Silent_p.A131A	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	131										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAAGCTAAAGGCAGGGGGCC	0.612000														8			10		0	0	0.001855	0	0
C10orf137	26098	broad.mit.edu	37	10	127436490	127436490	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:127436490C>T	uc001liq.1	+	20	3325	c.3032C>T	c.(3031-3033)tCa>tTa	p.S1011L	C10orf137_uc001lin.3_Missense_Mutation_p.S977L|C10orf137_uc001lip.1_Missense_Mutation_p.S715L|C10orf137_uc001lio.1_Missense_Mutation_p.S977L|C10orf137_uc001lis.1_Missense_Mutation_p.S337L|C10orf137_uc001lit.1_5'Flank	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	1011					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATGTGGATTCAGTGTCTGCT	0.458000														29			25		0	0	0.003330	0	0
OR6F1	343169	broad.mit.edu	37	1	247875901	247875901	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:247875901G>A	uc001idj.1	-	0	157	c.157C>T	c.(157-159)Cat>Tat	p.H53Y		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H53N(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGCAACTGATGGGAGGTGCTC	0.468000														53			18		0	0	0.004990	0	0
DAAM1	23002	broad.mit.edu	37	14	59791090	59791090	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:59791090C>T	uc001xdz.1	+	7	1032	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	DAAM1_uc001xea.1_Missense_Mutation_p.H303Y|DAAM1_uc001xeb.1_Missense_Mutation_p.H303Y	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	303	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTTTAGACTTCATCTTCGCTA	0.274000														18			26		0	0	0.002445	0	0
FMN2	56776	broad.mit.edu	37	1	240370842	240370842	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:240370842C>T	uc010pye.2	+	5	2967	c.2742C>T	c.(2740-2742)ccC>ccT	p.P914P	FMN2_uc010pyd.2_Silent_p.P910P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	910	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCTGCCACCCCCTCCCCCTC	0.657000														20			25		0	0	0.005443	0	0
CENPJ	55835	broad.mit.edu	37	13	25487158	25487158	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr13:25487158G>A	uc001upt.4	-	1	259	c.6C>T	c.(4-6)ttC>ttT	p.F2F	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	2					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTGGCATCAGGAACATCTTAG	0.403000														12			22		0	0	0.003330	0	0
ZNF66	0	broad.mit.edu	37	19	20975441	20975441	+	RNA	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:20975441C>T	uc002npe.3	+	1		c.302C>T								Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds.																		CCTGGTCTTTCTTGGTGAGAA	0.333000														13			14		0	0	0.002450	0	0
FGF12	2257	broad.mit.edu	37	3	192078284	192078284	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:192078284C>T	uc003fsx.3	-	1	1069	c.243G>A	c.(241-243)caG>caA	p.Q81Q	FGF12_uc003fsy.3_Silent_p.Q19Q	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	81					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		GGAAGTATCCCTGCTGGCTGA	0.403000														48			31		0	0	0.004289	0	0
LDLR	3949	broad.mit.edu	37	19	11231068	11231068	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr19:11231068C>T	uc002mqk.4	+	13	2197	c.2010C>T	c.(2008-2010)acC>acT	p.T670T	LDLR_uc010xlk.2_Silent_p.T670T|LDLR_uc010xll.2_Silent_p.T629T|LDLR_uc021upc.1_Silent_p.T549T|LDLR_uc010xln.2_Intron|LDLR_uc010xlo.2_Silent_p.T502T|LDLR_uc010xlm.2_Silent_p.T523T|LDLR_uc021upd.1_Silent_p.T407T	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	670	EGF-like 3.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GTGAGAGGACCACCCTGAGCA	0.582000														38			83		0	0	0.003610	0	0
NETO1	81832	broad.mit.edu	37	18	70417346	70417346	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:70417346C>T	uc002lkw.3	-	8	1776	c.1492G>A	c.(1492-1494)Gtg>Atg	p.V498M	NETO1_uc002lky.2_Missense_Mutation_p.V498M	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	498					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GTGGTCGGCACCTCTTCGATT	0.458000														20			13		0	0	0.002450	0	0
PDE7B	27115	broad.mit.edu	37	6	136500196	136500196	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:136500196G>A	uc003qgp.3	+	9	1168	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.E341K	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	289	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CAGGCAGAATGAATTTTTGAC	0.418000														26			39		0	0	0.006999	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724071	7724071	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:7724071C>T	uc001aoi.3	+	8	1671	c.1464C>T	c.(1462-1464)ttC>ttT	p.F488F		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGACTGTTTCCTTAATAACC	0.607000			T	WWTR1	epitheliod hemangioendothelioma									48			20		0	0	0.001523	0	0
C9orf86	55684	broad.mit.edu	37	9	139734637	139734637	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:139734637G>A	uc004cjj.1	+	13	2422	c.1965G>A	c.(1963-1965)aaG>aaA	p.K655K	C9orf86_uc004cji.1_Silent_p.K654K|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Silent_p.K539K|C9orf86_uc004cjn.1_Silent_p.K448K	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	654	Interaction with CDKN2A.|Lys-rich.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		CTaaggagaagaagaagaaga	0.577000														12			12		0	0	0.002450	0	0
ENPP4	22875	broad.mit.edu	37	6	46111256	46111256	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:46111256C>T	uc003oxy.3	+	3	1500	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	414						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTTATCGGTTCACTCTTGGTG	0.418000														68			20		0	0	0.001882	0	0
CNTN3	5067	broad.mit.edu	37	3	74347205	74347205	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr3:74347205G>A	uc003dpm.1	-	16	2384	c.2304C>T	c.(2302-2304)atC>atT	p.I768I		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	768	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATGGCACGATGCTTTCAT	0.453000														10			29		0	0	0.001786	0	0
C7orf58	79974	broad.mit.edu	37	7	120629778	120629778	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:120629778C>T	uc003vjq.4	+	1	550	c.103C>T	c.(103-105)Ctc>Ttc	p.L35F	C7orf58_uc003vjr.1_Missense_Mutation_p.L35F|C7orf58_uc003vjs.4_Missense_Mutation_p.L35F	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	35						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GACTCTGACCCTCCGAGGGTC	0.587000														86			15		0	0	0.007413	0	0
DAXX	1616	broad.mit.edu	37	6	33287363	33287363	+	Silent	SNP	G	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:33287363G>T	uc003oec.3	-	5	1938	c.1734C>A	c.(1732-1734)acC>acA	p.T578T	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Silent_p.T578T|DAXX_uc021ywo.1_Silent_p.T578T|DAXX_uc011dre.2_Silent_p.T590T|DAXX_uc003oed.3_Silent_p.T578T|DAXX_uc011drd.2_Silent_p.T503T	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	578	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CAGAGGAAGGGGTATCCAGGG	0.517000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									97			38		3.21399e-22	4.94421e-22	0.004878	1	0
AKAP9	10142	broad.mit.edu	37	7	91682262	91682262	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:91682262C>T	uc003ulg.3	+	21	5816	c.5591C>T	c.(5590-5592)aCt>aTt	p.T1864I	AKAP9_uc003ulf.3_Missense_Mutation_p.T1864I|AKAP9_uc003uli.3_Missense_Mutation_p.T1487I	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1876	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATAAGTGAAACTAGCAGTCAG	0.378000			T	BRAF	papillary thyroid									18			4		0	0	0.000248	0	0
AIM1	202	broad.mit.edu	37	6	106978146	106978146	+	Silent	SNP	T	C	C			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:106978146T>C	uc003prh.3	+	5	4362	c.3450T>C	c.(3448-3450)ttT>ttC	p.F1150F		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1150	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGCAGGGATTTGGTGTAATGC	0.343000														30			37		0	0	0.007835	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528442	77528442	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chrX:77528442C>T	uc022bzh.1	-	0	802	c.802G>A	c.(802-804)Gat>Aat	p.D268N	CYSLTR1_uc004edb.3_Missense_Mutation_p.D268N|CYSLTR1_uc010nma.3_Missense_Mutation_p.D268N|CYSLTR1_uc010nmb.3_Missense_Mutation_p.D268N	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	268					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity	p.D268N(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AGGACAGAATCACAGGGTTTA	0.418000														10			27		0	0	0.004656	0	0
PCNXL2	80003	broad.mit.edu	37	1	233372670	233372670	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:233372670G>A	uc001hvl.2	-	8	2514	c.2279C>T	c.(2278-2280)tCt>tTt	p.S760F	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.S59F	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	760						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGTCCCCAGAAGACGGATC	0.532000														33			42		0	0	0.007835	0	0
MEIS2	4212	broad.mit.edu	37	15	37187432	37187433	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr15:37187432_37187433CC>AT	uc001zjr.3	-	10	2140_2141	c.1066_1067GG>AT	c.(1066-1068)gga>ATa	p.G356I	MEIS2_uc001zjl.3_Missense_Mutation_p.G343I|MEIS2_uc010ucj.2_Missense_Mutation_p.G336I|MEIS2_uc001zjm.3_Missense_Mutation_p.G261I|MEIS2_uc001zjn.3_Missense_Mutation_p.G210I|MEIS2_uc001zjo.3_Missense_Mutation_p.G356I|MEIS2_uc001zjp.3_Missense_Mutation_p.G349I|MEIS2_uc001zjs.3_Missense_Mutation_p.G349I|MEIS2_uc001zju.3_Missense_Mutation_p.G336I|MEIS2_uc001zjt.3_Missense_Mutation_p.G349I|MEIS2_uc001zjj.3_Missense_Mutation_p.G52I|MEIS2_uc001zjk.3_Missense_Mutation_p.G45I	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	356					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		ATATGCTGCTCCTTGGCTCACT	0.505000														32			11		0	0	0.004672	0	0
SBF2	81846	broad.mit.edu	37	11	10015515	10015515	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr11:10015515G>A	uc001mib.2	-	9	1144	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	SBF2_uc001mif.3_Missense_Mutation_p.H92Y	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	336					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GGAAAAGCATGATCTGCTACT	0.289000														8			10		0	0	0.001855	0	0
C14orf43	91748	broad.mit.edu	37	14	74196554	74196554	+	Silent	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:74196554G>A	uc010tud.1	-	2	2131	c.1884C>T	c.(1882-1884)acC>acT	p.T628T	C14orf43_uc001xos.3_5'Flank|C14orf43_uc001xot.3_Silent_p.T628T|C14orf43_uc001xou.3_Silent_p.T628T|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	628					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		TCTGGTATGGGGTGATGTTGG	0.657000														9			20		0	0	0.008871	0	0
PRPF4B	8899	broad.mit.edu	37	6	4057355	4057355	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:4057355C>T	uc003mvv.3	+	12	2758	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	PRPF4B_uc003mvw.3_Non-coding_Transcript|FAM217A_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	889	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AAATTTTATTCCCTGGCAAAA	0.353000														131			24		0	0	0.003330	0	0
DSG3	1830	broad.mit.edu	37	18	29052712	29052712	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr18:29052712C>T	uc002kws.3	+	13	2171	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	688					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTGTGTGCCTCCTGTAACAGC	0.343000														15			12		0	0	0.003163	0	0
SLC4A2	6522	broad.mit.edu	37	7	150771341	150771341	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr7:150771341C>T	uc022apz.1	+	16	3791	c.2751C>T	c.(2749-2751)ttC>ttT	p.F917F	SLC4A2_uc003wit.4_Silent_p.F917F|SLC4A2_uc011kve.2_Silent_p.F908F|SLC4A2_uc003wiu.4_Silent_p.F903F	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	917	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.F916F(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGCCTTCTTCCTGCGCAAAT	0.647000														43			61		0	0	0.003610	0	0
DHTKD1	55526	broad.mit.edu	37	10	12129677	12129677	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:12129677C>T	uc001ild.4	+	3	765	c.666C>T	c.(664-666)ccC>ccT	p.P222P		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	222					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTGGGATGCCCCATAGAGGGA	0.483000														258			95		0	0	0.003610	0	0
USP43	124739	broad.mit.edu	37	17	9615323	9615323	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr17:9615323C>T	uc010cod.3	+	13	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	USP43_uc002gma.4_Missense_Mutation_p.R426W|USP43_uc010vva.2_Missense_Mutation_p.R732W|USP43_uc010coe.3_Missense_Mutation_p.R534W|USP43_uc002gmc.4_Missense_Mutation_p.R249W	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	737					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CTGGCTCTTACGGCTCGGGAG	0.632000														6			12		0	0	0.004007	0	0
C4B	721	broad.mit.edu	37	6	31962466	31962466	+	Silent	SNP	C	T	T			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr6:31962466C>T	uc011doy.2	+	20	2835	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	C4B_uc011doz.2_Silent_p.S928S	NM_001242823	NP_001229752	P0C0L5	CO4B_HUMAN	Homo sapiens complement C4-B-like (LOC100293534), mRNA.	928					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										ATGCGGTGTCCAAGGTTCTGC	0.617000														44			7		0	0	0.000978	0	0
CSMD2	114784	broad.mit.edu	37	1	34208974	34208974	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:34208974G>A	uc001bxm.1	-	13	2257	c.2080C>T	c.(2080-2082)Ccc>Tcc	p.P694S	CSMD2_uc001bxn.1_Missense_Mutation_p.P654S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	654	Sushi 4.					integral to membrane|plasma membrane	protein binding	p.P694A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGGAGGAGGGAAGCTGGTTT	0.582000														45			10		0	0	0.006214	0	0
MRPL20	55052	broad.mit.edu	37	1	1337486	1337486	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr1:1337486delA	uc001afo.4	-	3	523	c.427delT	c.(427-429)tccfs	p.S143fs	CCNL2_uc001afi.2_5'Flank|CCNL2_uc001afj.2_5'Flank|CCNL2_uc021oep.1_5'Flank	NM_017971	NP_060441	Q9BYC9	RM20_HUMAN	Homo sapiens mitochondrial ribosomal protein L20 (MRPL20), nuclear gene encoding mitochondrial protein, mRNA.	143							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACCACTCTGGAAAAAATGCCT	0.443													---	195	---	---	7	---					
ZFP36L2	678	broad.mit.edu	37	2	43452413	43452426	+	Frame_Shift_Del	DEL	GCGAACTGGCACTT	-	-			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr2:43452413_43452426delGCGAACTGGCACTT	uc002rsv.4	-	1	808_821	c.517_530delAAGTGCCAGTTCGC	c.(517-531)aagtgccagttcgcgfs	p.K173fs	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	173	RNA-binding.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F176L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GAAGCCATGCGCGAACTGGCACTTTTCGCCGTAC	0.640													---	22	---	---	9	---					
BC070322	0	broad.mit.edu	37	9	69634667	69634668	+	RNA	INS	-	GA	GA			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr9:69634667_69634668insGA	uc004afu.3	-	2		c.403_404insTC								Homo sapiens aquaporin 7 pseudogene 2, mRNA (cDNA clone IMAGE:30406582).																		AAGATGCGGGGGGGGCAGGTCC	0.569													---	85	---	---	16	---					
MYOF	26509	broad.mit.edu	37	10	95083038	95083038	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr10:95083038delC	uc001kin.3	-	46	5472	c.5349delG	c.(5347-5349)cggfs	p.R1783fs	MYOF_uc001kio.3_Frame_Shift_Del_p.R1770fs|MYOF_uc009xue.3_Intron	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1783			R -> Q (in dbSNP:rs11594445).		blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTGGCTTTCCGGGGTGTGA	0.478													---	69	---	---	43	---					
ARID4A	5926	broad.mit.edu	37	14	58833673	58833673	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A1HV-06A-21D-A196-08	TCGA-DA-A1HV-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75ba6722-1148-4a52-a9ed-68d890238205	02fb5e42-5dcc-44ba-97c3-1be1ba423680	g.chr14:58833673delA	uc001xdp.3	+	22	3850	c.3596delA	c.(3595-3597)tatfs	p.Y1199fs	ARID4A_uc001xdo.3_Frame_Shift_Del_p.Y1145fs|ARID4A_uc001xdq.3_Frame_Shift_Del_p.Y1130fs	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1199				IRKYYM -> SENIICL (in Ref. 4; no nucleotide entry).	negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCAGAAAATATTATATGTCT	0.323													---	20	---	---	37	---					
