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
MIB2	142678	broad.mit.edu	37	1	1563750	1563750	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:1563750C>T	uc001agg.3	+	14	2329	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	MIB2_uc001agh.3_Missense_Mutation_p.R748C|MIB2_uc001agi.3_Missense_Mutation_p.R758C|MIB2_uc001agj.3_Missense_Mutation_p.R546C|MIB2_uc001agk.3_Missense_Mutation_p.R697C|MIB2_uc001agl.2_Missense_Mutation_p.R661C|MIB2_uc001agm.3_Missense_Mutation_p.R582C|MIB2_uc010nyq.2_Missense_Mutation_p.R661C|MIB2_uc009vkh.3_Missense_Mutation_p.R511C|MIB2_uc001agn.3_Missense_Mutation_p.R337C|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	705					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	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)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAACAACCACCGCGAGGTGGC	0.692												
PLEKHG5	57449	broad.mit.edu	37	1	6537601	6537601	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:6537601G>C	uc001anp.1	-	2	760	c.262C>G	c.(262-264)Ctt>Gtt	p.L88V	PLEKHG5_uc001ann.1_Missense_Mutation_p.L48V|PLEKHG5_uc001ano.1_Missense_Mutation_p.L67V|PLEKHG5_uc001anq.1_Missense_Mutation_p.L88V|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.L80V|PLEKHG5_uc001ank.1_Missense_Mutation_p.L11V|PLEKHG5_uc009vmb.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anl.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anm.1_Missense_Mutation_p.L11V	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	67					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGGGGGAAGGTCGAAGCGG	0.617												
CD53	963	broad.mit.edu	37	1	111435024	111435024	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:111435024G>A	uc001dzw.3	+	3	292	c.121G>A	c.(121-123)Gga>Aga	p.G41R	CD53_uc001dzx.3_Missense_Mutation_p.G41R|CD53_uc010owa.2_Missense_Mutation_p.G41R	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	41					signal transduction	integral to membrane|plasma membrane		p.F40F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CAACAACTTCGGAGTGCTCTT	0.507												
HSD3B2	3284	broad.mit.edu	37	1	119985580	119985580	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:119985580C>T	uc001ehu.3	+	3	559	c.387C>T	c.(385-387)gaC>gaT	p.D129D				P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.	0			G -> R (in AH2; nonsalt-wasting form).		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)	CCTGCCAGGACGTGTCGGTCG	0.507												
HRNR	388697	broad.mit.edu	37	1	152188024	152188024	+	Silent	SNP	C	C	G	rs142170860		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:152188024C>G	uc001ezt.1	-	2	6157	c.6081G>C	c.(6079-6081)tcG>tcC	p.S2027S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2027					keratinization		calcium ion binding|protein binding	p.S2027S(4)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.562												
NUP210L	91181	broad.mit.edu	37	1	154090286	154090286	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:154090286C>T	uc001fdw.3	-	11	1607	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.G512E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	512						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTCACCACTCCTTTCGTGGT	0.433												
TIPRL	261726	broad.mit.edu	37	1	168165850	168165850	+	Silent	SNP	C	C	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:168165850C>A	uc001gfg.3	+	4	727	c.582C>A	c.(580-582)atC>atA	p.I194I		NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	194	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GGGTGCTTATCAGAATGAATG	0.323												
USH2A	7399	broad.mit.edu	37	1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:215933077C>T	uc001hku.1	-	56	11543	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3719	Fibronectin type-III 22.				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)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)		
EPHX1	2052	broad.mit.edu	37	1	226027611	226027611	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:226027611C>T	uc001hpk.3	+	5	884	c.804C>T	c.(802-804)ttC>ttT	p.F268F	EPHX1_uc001hpl.3_Silent_p.F268F	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	268					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.R267C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GACAGCGTTTCGGGAGGTTTC	0.552												
RYR2	6262	broad.mit.edu	37	1	237838075	237838075	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:237838075G>A	uc001hyl.1	+	59	8879	c.8759G>A	c.(8758-8760)cGa>cAa	p.R2920Q	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2920	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTGAGAAACGATTTGCCTAT	0.423												
MKX	283078	broad.mit.edu	37	10	27964299	27964299	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr10:27964299C>T	uc001ity.4	-	6	1143	c.918G>A	c.(916-918)aaG>aaA	p.K306K	MKX_uc001itx.4_Silent_p.K306K	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	306					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CGTTGATCTCCTTCCAATACG	0.458												
C10orf12	26148	broad.mit.edu	37	10	98741746	98741746	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr10:98741746G>A	uc001kmv.3	+	0	706	c.599G>A	c.(598-600)tGt>tAt	p.C200Y	C10orf12_uc009xvg.2_Missense_Mutation_p.C510Y	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	200										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AATGGTGACTGTTGTGAGCTG	0.423												
MMP10	4319	broad.mit.edu	37	11	102647144	102647144	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr11:102647144C>T	uc001phg.2	-	5	836	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	267					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCAGTAGAGGCAGGGGGAGGT	0.468												
DDX25	29118	broad.mit.edu	37	11	125787056	125787056	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr11:125787056C>T	uc001qcz.4	+	8	1089	c.948C>T	c.(946-948)taC>taT	p.Y316Y	DDX25_uc010sbk.2_Silent_p.Y316Y	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	316	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GGCAATATTACGTGCTGTGTG	0.478												
ITPR2	3709	broad.mit.edu	37	12	26864181	26864181	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:26864181G>A	uc001rhg.3	-	8	1293	c.876C>T	c.(874-876)tgC>tgT	p.C292C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	292					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACCCCCACGGCATGGGTCAT	0.433												
PRPF40B	25766	broad.mit.edu	37	12	50028946	50028946	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:50028946G>C	uc001rur.1	+	11	1063	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	PRPF40B_uc001rup.1_Missense_Mutation_p.E356Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.E328Q|PRPF40B_uc001rus.1_Missense_Mutation_p.E277Q	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	334					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCGGGAGAAGGAGGAGAAGGA	0.582												
CAPS2	84698	broad.mit.edu	37	12	75692734	75692734	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:75692734A>C	uc001sxl.3	-	9	896	c.867T>G	c.(865-867)gaT>gaG	p.D289E	CAPS2_uc001sxm.3_Missense_Mutation_p.D76E|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.4_Intron|CAPS2_uc001sxj.4_Intron|CAPS2_uc001sxk.4_Missense_Mutation_p.D308E	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	308							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CTCTGCAAGCATCACGTCCAT	0.308												
NT5DC3	51559	broad.mit.edu	37	12	104186945	104186945	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:104186945C>T	uc010swe.1	-	8	1057	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	339							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CACTCACCTCCGCTTATCATT	0.403												
NOS1	4842	broad.mit.edu	37	12	117710315	117710315	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:117710315C>T	uc001twn.2	-	9	2425	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	NOS1_uc021ren.1_Missense_Mutation_p.V236M|NOS1_uc021reo.1_Missense_Mutation_p.V236M|NOS1_uc001twm.2_Missense_Mutation_p.V572M	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	572					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.V572M(2)|p.A571A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGTTGGACACGGCGGGGAGG	0.617												
TMEM132D	121256	broad.mit.edu	37	12	130015732	130015732	+	Silent	SNP	G	G	A	rs147002439		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:130015732G>A	uc009zyl.1	-	2	1315	c.987C>T	c.(985-987)ggC>ggT	p.G329G		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	329						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGATGTTCACGCCTTTCTTCA	0.557												
SERPINA10	51156	broad.mit.edu	37	14	94756360	94756360	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr14:94756360C>T	uc001yct.3	-	1	1037	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	SERPINA10_uc001ycu.4_Missense_Mutation_p.V191M	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.	191					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)		TTCATAGGCACGCACTCTGTA	0.418												
CILP	8483	broad.mit.edu	37	15	65489345	65489345	+	Silent	SNP	G	G	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr15:65489345G>T	uc002aon.2	-	8	3460	c.3279C>A	c.(3277-3279)ggC>ggA	p.G1093G		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	1093					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.L1092L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAAAGCACCGGCCGAGCGCGA	0.582												
SV2B	9899	broad.mit.edu	37	15	91835641	91835641	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr15:91835641C>T	uc002bqv.3	+	13	2802	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.G486G	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	637					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.F636F(1)		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)			GCAAATTTGGCGCCATCCTGG	0.463												
MSLNL	401827	broad.mit.edu	37	16	822701	822701	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:822701G>A	uc002cjz.1	-	11	2406	c.2406C>T	c.(2404-2406)atC>atT	p.I802I		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	451					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCTGGGGATGGATGGTCTGGA	0.647												
ERCC4	2072	broad.mit.edu	37	16	14024621	14024621	+	Missense_Mutation	SNP	T	T	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:14024621T>A	uc002dce.2	+	4	856	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	ERCC4_uc010bva.3_Missense_Mutation_p.S283T	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	283	Leucine-zipper 2.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CAAGACTAAATCCTTAGTTCA	0.363			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum			
ITPRIPL2	162073	broad.mit.edu	37	16	19126333	19126333	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:19126333C>G	uc002dfu.4	+	0	1080	c.550C>G	c.(550-552)Ccg>Gcg	p.P184A	ITPRIPL2_uc002dft.3_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	184						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCGCCTCCCGCCGCTTGTGGC	0.697											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RANBP10	57610	broad.mit.edu	37	16	67763893	67763893	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:67763893G>C	uc002eud.3	-	7	1062	c.946C>G	c.(946-948)Cgc>Ggc	p.R316G	RANBP10_uc010ceo.3_Missense_Mutation_p.R87G|RANBP10_uc010vju.2_Missense_Mutation_p.R260G|RANBP10_uc010vjv.2_Missense_Mutation_p.R199G|RANBP10_uc010vjw.1_5'UTR	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	316	CTLH.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGTAGAAGCGCTGGGTGGTC	0.632												
DNAH2	146754	broad.mit.edu	37	17	7671485	7671485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr17:7671485C>T	uc002giu.1	+	22	3855	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1281	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCTCAGGACCGAAACTGGGA	0.547												
DSG1	1828	broad.mit.edu	37	18	28913591	28913591	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr18:28913591C>T	uc002kwp.3	+	6	936	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	242	Cadherin 2.				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)			AGGCTCTGACCGAGATGGCGG	0.428												
MUC16	94025	broad.mit.edu	37	19	8996490	8996490	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:8996490A>G	uc002mkp.3	-	60	41286	c.41082T>C	c.(41080-41082)ccT>ccC	p.P13694P	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.P511P|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13696	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						CATCCTTTTCAGGCCTGGAGA	0.542												
RASAL3	64926	broad.mit.edu	37	19	15571922	15571922	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:15571922A>G	uc002nbe.2	-	4	641	c.555T>C	c.(553-555)ccT>ccC	p.P185P		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	185					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTGTTTTTCCAGGCATCCGAT	0.582												
ZNF507	22847	broad.mit.edu	37	19	32847587	32847609	+	Frame_Shift_Del	DEL	TAATGAGCCAAGAATTTCCAGTG	TAATGAGCCAAGAATTTCCAGTG	-			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	uc002nte.3	+	3	2465_2487	c.2193_2215delTAATGAGCCAAGAATTTCCAGTG	c.(2191-2217)tctaatgagccaagaatttccagtgatfs	p.S731fs	ZNF507_uc002ntc.2_Frame_Shift_Del_p.S731fs|ZNF507_uc010xrn.1_Frame_Shift_Del_p.S731fs|ZNF507_uc002ntd.3_Frame_Shift_Del_p.S731fs	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TAGCAACTTCTAATGAGCCAAGAATTTCCAGTGATACAGCTGA	0.381												
OPA3	80207	broad.mit.edu	37	19	46056784	46056784	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:46056784C>T	uc002pcj.4	-						OPA3_uc002pck.4_Silent_p.A176A|OPA3_uc010xxk.2_Silent_p.A123A	NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATTTCTTGGACGCAGGCACTG	0.637												
CCDC114	93233	broad.mit.edu	37	19	48805978	48805978	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:48805978G>A	uc002pir.2	-	9	1785	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	CCDC114_uc002piq.2_Missense_Mutation_p.R177W|CCDC114_uc002pio.3_Missense_Mutation_p.R405W|CCDC114_uc002pis.1_Missense_Mutation_p.R48W|CCDC114_uc002pit.1_Missense_Mutation_p.R405W	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	368										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGCTGTCCCCGCACATCCTGG	0.647												
CA11	770	broad.mit.edu	37	19	49143426	49143426	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:49143426G>C	uc002pjz.1	-	3	959	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	133						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		AGCAGCCGCAGTTCACTGAGT	0.592												
SIGLEC10	89790	broad.mit.edu	37	19	51919569	51919569	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:51919569G>A	uc002pwo.3	-	3	971	c.749C>T	c.(748-750)aCg>aTg	p.T250M	SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	250					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGTACCTGGCGTGTTGTCACG	0.547												
LILRB4	11006	broad.mit.edu	37	19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55175317G>A	uc002qgp.3	+	2	538	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_uc002qgo.1_Missense_Mutation_p.R100H|LILRB4_uc002qgq.3_Missense_Mutation_p.R59H|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.R100H|LILRB4_uc010eru.3_Missense_Mutation_p.R88H	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	59	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587												
NLRP7	199713	broad.mit.edu	37	19	55450816	55450816	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55450816G>A	uc002qih.4	-	3	1447	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	NLRP7_uc010esk.3_Silent_p.D457D|NLRP7_uc002qig.4_Silent_p.D457D|NLRP7_uc002qii.4_Silent_p.D457D|NLRP7_uc010esl.3_Silent_p.D485D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	457	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAGACTCTGTCCTGGCGGA	0.617												
PTPRH	5794	broad.mit.edu	37	19	55708508	55708508	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55708508G>A	uc002qjq.3	-	8	2040	c.1967C>T	c.(1966-1968)aCg>aTg	p.T656M	PTPRH_uc010esv.3_Missense_Mutation_p.T478M|PTPRH_uc002qjs.2_Missense_Mutation_p.T663M	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	656	Fibronectin type-III 7.				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)		GAGGCTCTGCGTGGAACTGGC	0.547												
SNTG2	54221	broad.mit.edu	37	2	1271318	1271318	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:1271318C>T	uc002qwq.3	+	13	1388	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	SNTG2_uc010ewi.3_Missense_Mutation_p.T293M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	420	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAAAGAGCCACGTTCATGGAA	0.527												
TTN	7273	broad.mit.edu	37	2	179425883	179425883	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:179425883G>A	uc021vsy.1	-	274	77497	c.77272C>T	c.(77272-77274)Cgg>Tgg	p.R25758W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R19453W|TTN_uc021vta.1_Missense_Mutation_p.R19386W|TTN_uc021vtb.1_Missense_Mutation_p.R19261W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26685	Fibronectin type-III 87.						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)			GCAAAAACCCGGAATTCATAA	0.403												
NMUR1	10316	broad.mit.edu	37	2	232393454	232393454	+	Missense_Mutation	SNP	G	G	A	rs143358901	by1000genomes	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:232393454G>A	uc002vry.4	-	1	388	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	93					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)		GTTGGTAGGCGTGCGCATGGC	0.612												
PCSK2	5126	broad.mit.edu	37	20	17445987	17445987	+	Missense_Mutation	SNP	C	C	T	rs138900084		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:17445987C>T	uc002wpm.3	+	10	1573	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	PCSK2_uc002wpl.3_Missense_Mutation_p.R388W|PCSK2_uc010zrm.2_Missense_Mutation_p.R372W|PCSK2_uc002wpn.3_Missense_Mutation_p.R61W	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	407	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGACCTGGCGGGACATGCA	0.552												
TPX2	22974	broad.mit.edu	37	20	30371716	30371716	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:30371716G>T	uc002wwp.1	+	11	2103	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y	TPX2_uc010gdv.1_Missense_Mutation_p.D505Y	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	469					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GATTTTGGAAGATGTTGTGGT	0.413												
BPI	671	broad.mit.edu	37	20	36932646	36932646	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:36932646C>T	uc002xib.2	+	0	95	c.33C>T	c.(31-33)aaC>aaT	p.N11N		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	11					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCCTTGCAACGCGCCGAGAT	0.627												
KRTAP10-9	386676	broad.mit.edu	37	21	46047200	46047200	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr21:46047200G>A	uc002zfp.4	+	0	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	38	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CAGCTGCTGCGCCCCGGCCCC	0.687												
KRTAP10-11	386678	broad.mit.edu	37	21	46066382	46066382	+	Missense_Mutation	SNP	G	G	A	rs150246805	by1000genomes	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr21:46066382G>A	uc002zfr.4	+	0	52	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	3						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCATGGCCGCGTCCACCAT	0.647												
TMPRSS6	164656	broad.mit.edu	37	22	37491997	37491997	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr22:37491997C>T	uc003aqt.1	-	4	600	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V189I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V180I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	189					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						CTGTAGGGGACGGCAGCCGAG	0.642												
PTPRG	5793	broad.mit.edu	37	3	62188854	62188854	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr3:62188854C>T	uc003dlb.3	+	11	2104	c.1385C>T	c.(1384-1386)gCg>gTg	p.A462V	PTPRG_uc003dlc.3_Missense_Mutation_p.A462V	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	462					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CAGCCCACAGCGTCTCCTGCC	0.547												
STAG1	10274	broad.mit.edu	37	3	136076625	136076625	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr3:136076625delA	uc003era.1	-	27	3294	c.3002delT	c.(3001-3003)ctgfs	p.L1001fs	STAG1_uc003erb.1_Frame_Shift_Del_p.L1001fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	1001					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAGAAAAGCCAGATTAGGAGG	0.333												
BMP3	651	broad.mit.edu	37	4	81952456	81952456	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:81952456G>A	uc003hmg.4	+	0	338	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	6					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGGCGAGCAGGCTGCTCTTTC	0.706												
MTTP	4547	broad.mit.edu	37	4	100534247	100534247	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:100534247G>A	uc011cej.2	+	14	2261	c.2248G>A	c.(2248-2250)Gac>Aac	p.D750N	MTTP_uc003hvc.4_Missense_Mutation_p.D723N	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	723					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)	AGCATCTGGCGACCCTATCAG	0.428												
TLL1	7092	broad.mit.edu	37	4	166915601	166915601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:166915601C>T	uc003irh.2	+	3	1077	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TLL1_uc021xud.1_Nonsense_Mutation_p.R144*|TLL1_uc011cjn.2_Nonsense_Mutation_p.R144*|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	144					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)		TGAGAAAAATCGAGTTCCCAG	0.423												
PDE8B	8622	broad.mit.edu	37	5	76640735	76640735	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:76640735A>G	uc003kfa.3	+	6	900	c.855A>G	c.(853-855)acA>acG	p.T285T	PDE8B_uc003kfd.3_Silent_p.T285T|PDE8B_uc003kfe.3_Silent_p.T285T|PDE8B_uc003kfb.3_Silent_p.T265T|PDE8B_uc003kfc.3_Silent_p.T285T	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	285	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TAGAAATAACAAGCGATGACC	0.353												
RASA1	5921	broad.mit.edu	37	5	86659220	86659220	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:86659220A>G	uc003kiw.3	+	10	1708	c.1509A>G	c.(1507-1509)caA>caG	p.Q503Q	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Silent_p.Q326Q|RASA1_uc011ctv.2_Silent_p.Q336Q|RASA1_uc011ctw.2_Silent_p.Q337Q|RASA1_uc010jaw.3_Silent_p.Q325Q	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	503	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GTGATGCCCAACTTATTTATT	0.323												
GPR98	84059	broad.mit.edu	37	5	89986845	89986845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:89986845C>T	uc003kju.3	+	30	7034	c.6938C>T	c.(6937-6939)cCg>cTg	p.P2313L	GPR98_uc003kjt.3_Intron|GPR98_uc003kjv.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2313	Calx-beta 16.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACGACGTTCCGGAGATTGAA	0.468												
TRPC7	57113	broad.mit.edu	37	5	135583350	135583350	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:135583350G>A	uc003lbn.2	-	6	1875	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	TRPC7_uc010jef.2_Silent_p.S487S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.S102S|TRPC7_uc010jeh.2_Silent_p.S490S|TRPC7_uc010jei.2_Silent_p.S435S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	551					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGAGAGAAGCTCAGCACGA	0.502												
GABRA1	2554	broad.mit.edu	37	5	161324264	161324264	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:161324264G>A	uc010jiw.3	+	10	1675	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	GABRA1_uc010jix.3_Missense_Mutation_p.E403K|GABRA1_uc010jiy.3_Missense_Mutation_p.E403K|GABRA1_uc003lyx.4_Missense_Mutation_p.E403K|GABRA1_uc010jiz.3_Missense_Mutation_p.E403K|GABRA1_uc010jja.3_Missense_Mutation_p.E403K|GABRA1_uc010jjb.3_Missense_Mutation_p.E403K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	403					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.E403K(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	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)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGTCAAGCCCGAAACAAAACC	0.473												
CUL9	23113	broad.mit.edu	37	6	43181519	43181519	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:43181519G>A	uc003ouk.3	+	28	5632	c.5557G>A	c.(5557-5559)Gca>Aca	p.A1853T	CUL9_uc003oul.3_Intron|CUL9_uc010jyk.3_Missense_Mutation_p.A1005T|CUL9_uc003oun.3_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1853				Missing (in Ref. 3; CAH18696).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCTCCCCAGGCATACCTGAA	0.577												
CLIC5	53405	broad.mit.edu	37	6	45882070	45882070	+	Silent	SNP	G	G	A	rs146052023		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:45882070G>A	uc003oxv.3	-	4	1066	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CLIC5_uc003oxu.3_Silent_p.D161D|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Silent_p.D161D	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	320	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AAGTGTTGGCGTCAATCTCCT	0.537												
STX7	8417	broad.mit.edu	37	6	132792715	132792715	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:132792715G>A	uc003qdg.2	-	4	524	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron	NM_003569	NP_003560	O15400	STX7_HUMAN	Homo sapiens syntaxin 7 (STX7), mRNA.	92					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCCACTAAGCGATCCTTCTGT	0.453												
PDE1C	5137	broad.mit.edu	37	7	31890345	31890345	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:31890345G>A	uc003tcm.2	-	7	1222	c.761C>T	c.(760-762)aCg>aTg	p.T254M	PDE1C_uc003tcn.1_Missense_Mutation_p.T254M|PDE1C_uc003tco.2_Missense_Mutation_p.T314M|PDE1C_uc003tcr.3_Missense_Mutation_p.T254M|PDE1C_uc003tcs.3_Missense_Mutation_p.T254M	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	254	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	p.L253Q(1)		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)			CTCCAGCTCCGTCAGCCAGTT	0.463												
ABCA13	154664	broad.mit.edu	37	7	48556332	48556332	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:48556332T>C	uc003toq.2	+	51	13676	c.13652T>C	c.(13651-13653)cTt>cCt	p.L4551P	ABCA13_uc010kys.1_Missense_Mutation_p.L1626P|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.L281P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4551					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATGCAACTCTTCCATGGATG	0.378												
STEAP2	261729	broad.mit.edu	37	7	89856794	89856794	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:89856794C>T	uc010len.3	+	3	1508	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	STEAP2_uc003ujy.2_Silent_p.L376L|STEAP2_uc003uka.3_Silent_p.L334L|STEAP2_uc003ujz.3_Silent_p.L334L|STEAP2_uc003ukc.3_Silent_p.L334L|STEAP2_uc003ukb.3_Silent_p.L334L|STEAP2_uc003ukd.3_Silent_p.L334L	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	334	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATTTGTTTCTCAACATGGCTT	0.338												
ZAN	7455	broad.mit.edu	37	7	100382333	100382333	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:100382333C>T	uc003uwj.3	+	36	6873	c.6708C>T	c.(6706-6708)ggC>ggT	p.G2236G	ZAN_uc003uwk.3_Silent_p.G2236G|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.G287G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2237	TIL 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTGTGAGGGCGCCAAAGTCC	0.612												
IFRD1	3475	broad.mit.edu	37	7	112097053	112097053	+	Frame_Shift_Del	DEL	A	A	-			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:112097053delA	uc003vgh.3	+	4	839	c.369delA	c.(367-369)agafs	p.R123fs	IFRD1_uc011kmn.2_Frame_Shift_Del_p.R73fs|IFRD1_uc003vgi.3_Frame_Shift_Del_p.R123fs|IFRD1_uc003vgj.3_Frame_Shift_Del_p.R123fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Del_p.R73fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	123					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGGAAAGGAGAATGACTTTAA	0.368												
FLNC	2318	broad.mit.edu	37	7	128490536	128490536	+	Silent	SNP	A	A	G			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:128490536A>G	uc003vnz.4	+	32	5607	c.5398_splice	c.e32+1	p.G1800_splice	FLNC_uc003voa.4_Splice_Site_p.G1767_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1800					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGAGCTCACAGGTACTGCCC	0.592												
FLNC	2318	broad.mit.edu	37	7	128493857	128493857	+	Silent	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:128493857C>T	uc003vnz.4	+	38	6659	c.6450C>T	c.(6448-6450)atC>atT	p.I2150I	FLNC_uc003voa.4_Silent_p.I2117I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2150					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGCCACCATCGGCAGCACCT	0.662												
C7orf49	78996	broad.mit.edu	37	7	134851619	134851619	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:134851619C>T	uc003vsl.3	-	3	531	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Missense_Mutation_p.R44H|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Missense_Mutation_p.R18H|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Missense_Mutation_p.R18H|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	73						cytoplasm		p.P72L(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTCCTGTTTGCGGCTCTGTGG	0.552												
ATP6V0A4	50617	broad.mit.edu	37	7	138453573	138453573	+	Silent	SNP	G	G	A	rs137955459		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:138453573G>A	uc003vuf.3	-	3	481	c.243C>T	c.(241-243)ctC>ctT	p.L81L	ATP6V0A4_uc003vug.3_Silent_p.L81L|ATP6V0A4_uc003vuh.3_Silent_p.L81L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	81					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCTTTTCTCGAGCAACTGAA	0.483												
KEL	3792	broad.mit.edu	37	7	142658446	142658446	+	Splice_Site	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:142658446C>T	uc003wcb.3	-	3	433	c.223_splice	c.e3+1	p.R75_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	75					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCTTGCTTACGAGGGCCACA	0.602												
FAM83H	286077	broad.mit.edu	37	8	144810766	144810766	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr8:144810766C>T	uc003yzk.3	-	4	934	c.865G>A	c.(865-867)Gcg>Acg	p.A289T		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	289					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAGGGCCGCGGCCGAGGGC	0.711												
EPPK1	83481	broad.mit.edu	37	8	144940597	144940597	+	Silent	SNP	G	G	A			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr8:144940597G>A	uc003zaa.1	-	0	6838	c.6825C>T	c.(6823-6825)ccC>ccT	p.P2275P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2275						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.D2274D(1)		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)			GGTTGCGCACGGGGTCGATGA	0.721												
