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	ACHILLES_Top_Genes	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PADI3	51702	broad.mit.edu	37	1	17603314	17603314	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:17603314T>C	uc001bai.2	+	13	1538	c.1498T>C	c.(1498-1500)TTC>CTC	p.F500L		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	500					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTTCAAGCTCTTCCAGGAAAA	0.642			NA											4	23					0	0	0.001168	0	0
PADI4	23569	broad.mit.edu	37	1	17634768	17634768	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:17634768C>A	uc001baj.2	+	1	79	c.51C>A	c.(49-51)GCC>GCA	p.A17A	PADI4_uc009vpc.2_Silent_p.A17A	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	17					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			ovary(1)|skin(1)	2		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)	CCACCCATGCCGTGTGTGTGC	0.622			NA											26	61					3.80469e-20	5.66429e-20	0.009535	1	0
MYOM3	127294	broad.mit.edu	37	1	24434529	24434529	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:24434529C>T	uc001bin.3	-	3	359	c.196G>A	c.(196-198)GCC>ACC	p.A66T	MYOM3_uc001bio.2_Missense_Mutation_p.A66T|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	66										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTGCCAGGGCGTAGTCCGCG	0.632			NA											21	65					0	0	0.00632	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524847	26524847	+	Missense_Mutation	SNP	C	C	T	rs149779483	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:26524847C>T	uc010oez.1	+	6	749	c.749C>T	c.(748-750)GCG>GTG	p.A250V	CATSPER4_uc010oey.1_Missense_Mutation_p.A72V|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	250					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ATACAGGTTGCGCTGTACACC	0.532			NA											30	353					0	0	0.007291	0	0
LHX8	431707	broad.mit.edu	37	1	75609600	75609600	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:75609600A>T	uc001dgo.2	+	7	1345	c.681A>T	c.(679-681)AGA>AGT	p.R227S	LHX8_uc001dgq.2_Missense_Mutation_p.R166S	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	LIM homeobox 8	227	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CAGCAAAAAGAGCTCGGACCA	0.403			NA											6	78					0	0	0.006214	0	0
HFM1	164045	broad.mit.edu	37	1	91816323	91816323	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:91816323G>T	uc001doa.3	-	18	2278	c.2178C>A	c.(2176-2178)ATC>ATA	p.I726I	HFM1_uc009wdb.2_Intron|HFM1_uc010osu.1_Silent_p.I405I|HFM1_uc010osv.1_Silent_p.I410I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	726							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAAGGCTCTGATATAAAGCA	0.343			NA											18	96					1.33834e-09	1.70509e-09	0.007413	1	0
OR6N2	81442	broad.mit.edu	37	1	158747139	158747139	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:158747139C>A	uc010pir.1	-	1	287	c.287G>T	c.(286-288)GGA>GTA	p.G96V		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)					AAGGAGGCATCCTGCAAAAGA	0.458			NA											63	141					9.68594e-22	1.48368e-21	0.01441	1	0
HMCN1	83872	broad.mit.edu	37	1	186121913	186121913	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:186121913G>T	uc001grq.1	+	96	15157	c.14928G>T	c.(14926-14928)CGG>CGT	p.R4976R	HMCN1_uc001grs.1_Silent_p.R545R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4976	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATATTGCCCGGGGCTTGGATT	0.428			NA											63	193					2.18329e-32	3.63881e-32	0.01441	1	0
ADIPOR1	51094	broad.mit.edu	37	1	202912952	202912952	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:202912952T>G	uc001gyq.3	-	6	1006	c.739A>C	c.(739-741)ATT>CTT	p.I247L	ADIPOR1_uc010pqd.1_Missense_Mutation_p.I171L|ADIPOR1_uc001gyr.3_Missense_Mutation_p.I46L|ADIPOR1_uc001gys.3_Missense_Mutation_p.I247L	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	247	Helical; Name=4; (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			ATGGCAGAAATGCCCAGGACA	0.537			NA											15	47					0	0	0.006122	0	0
KCNH1	3756	broad.mit.edu	37	1	210970995	210970995	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:210970995G>T	uc001hib.2	-	9	1940	c.1770C>A	c.(1768-1770)CTC>CTA	p.L590L	KCNH1_uc001hic.2_Silent_p.L563L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	590	Cytoplasmic (Potential).|cNMP.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCAGTGCCCGGAGGCAGCCAT	0.612			NA											20	39					1.5548e-18	2.28901e-18	0.005443	1	0
RCOR3	55758	broad.mit.edu	37	1	211449715	211449715	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:211449715A>T	uc001hig.2	+	4	466	c.297A>T	c.(295-297)CAA>CAT	p.Q99H	RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.Q157H|RCOR3_uc010psw.1_Missense_Mutation_p.Q157H|RCOR3_uc001hif.2_Missense_Mutation_p.Q157H	NM_018254	NP_060724	Q9P2K3	RCOR3_HUMAN	REST corepressor 3 isoform d	99	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TATTTGAACAAGCCTTTAGTT	0.378			NA											69	215					0	0	0.01441	0	0
USH2A	7399	broad.mit.edu	37	1	216246606	216246606	+	Missense_Mutation	SNP	C	C	A	rs111033409		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:216246606C>A	uc001hku.1	-	28	5996	c.5609G>T	c.(5608-5610)CGG>CTG	p.R1870L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1870	Laminin G-like 2.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACAGCACCCCGTGTAAATTT	0.433			NA								HNSCC(13;0.011)			16	46					0.000566183	0.000604994	0.00499	1	0
ACTN2	88	broad.mit.edu	37	1	236891000	236891000	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:236891000T>A	uc001hyf.2	+	6	763	c.559T>A	c.(559-561)TGT>AGT	p.C187S	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.C187S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	187	CH 2.|Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTTGGACTCTGTGCCCTCAT	0.547			NA											21	77					0	0	0.016522	0	0
RYR2	6262	broad.mit.edu	37	1	237777623	237777623	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:237777623A>G	uc001hyl.1	+	37	5315	c.5195A>G	c.(5194-5196)GAG>GGG	p.E1732G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1732	Cytoplasmic (By similarity).|4 X approximate repeats.				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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			ATGACGGAGGAGACGAAGAGC	0.552			NA											6	55					0	0	0.001984	0	0
RYR2	6262	broad.mit.edu	37	1	237880547	237880547	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:237880547G>T	uc001hyl.1	+	72	10493	c.10373G>T	c.(10372-10374)CGG>CTG	p.R3458L	RYR2_uc010pxz.1_Missense_Mutation_p.R413L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3458					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			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	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)			AAAGGAGATCGGTATTCCATG	0.493			NA											10	31					1.08611e-07	1.32635e-07	0.010729	1	0
RGS7	6000	broad.mit.edu	37	1	240979707	240979707	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:240979707A>G	uc001hyv.2	-	11	1023	c.693T>C	c.(691-693)TAT>TAC	p.Y231Y	RGS7_uc010pyh.1_Silent_p.Y205Y|RGS7_uc010pyj.1_Silent_p.Y147Y|RGS7_uc001hyu.2_Silent_p.Y231Y|RGS7_uc009xgn.1_Silent_p.Y178Y|RGS7_uc001hyw.2_Silent_p.Y231Y|RGS7_uc001hyt.2_Silent_p.Y63Y	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	231					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			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTGTAAACCATAGACAGACt	0.338			NA											82	200					0	0	0.01441	0	0
OR2L2	26246	broad.mit.edu	37	1	248201977	248201977	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:248201977C>A	uc001idw.2	+	1	504	c.408C>A	c.(406-408)AGC>AGA	p.S136R	OR2L13_uc001ids.2_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L,	136	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	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;0.0278)			TCCGTATAAGCAAAAGAGTGT	0.433			NA											82	222					7.83748e-43	1.38462e-42	0.01441	1	0
OR2T3	343173	broad.mit.edu	37	1	248637257	248637257	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:248637257G>T	uc001iel.1	+	1	606	c.606G>T	c.(604-606)ACG>ACT	p.T202T		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	202	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	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)			TCTATAAGACGCTCATGTACC	0.512			NA											86	102					6.65942e-36	1.13125e-35	0.01441	1	0
CUBN	8029	broad.mit.edu	37	10	17130324	17130324	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:17130324C>A	uc001ioo.2	-	15	1838	c.1786G>T	c.(1786-1788)GGT>TGT	p.G596C		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	596	CUB 2.				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			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTAAGGACCAGTCAGGATA	0.423			NA											9	44					3.86212e-05	4.3184e-05	0.008291	1	0
ITGB1	3688	broad.mit.edu	37	10	33214878	33214878	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:33214878A>G	uc001iws.3	-	6	843	c.707T>C	c.(706-708)GTT>GCT	p.V236A	ITGB1_uc001iwp.3_Missense_Mutation_p.V236A|ITGB1_uc001iwq.3_Missense_Mutation_p.V236A|ITGB1_uc001iwr.3_Missense_Mutation_p.V236A|ITGB1_uc001iwt.3_Missense_Mutation_p.V236A|ITGB1_uc001iwu.1_Missense_Mutation_p.V236A	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	236	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTGTTTTCCAACAAGTTCATT	0.413			NA											39	156					0	0	0.00623	0	0
RET	5979	broad.mit.edu	37	10	43602005	43602005	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:43602005C>A	uc001jal.2	+	5	1239	c.1049C>A	c.(1048-1050)ACC>AAC	p.T350N	RET_uc001jak.1_Missense_Mutation_p.T350N|RET_uc010qez.1_Missense_Mutation_p.T96N	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	350	Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	GTGCGGGCGACCGTACATGAC	0.642	Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				9	32					0.00448238	0.0046765	0.004482	1	0
PCDH15	65217	broad.mit.edu	37	10	55569185	55569185	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:55569185C>G	uc010qhs.1	-	37	5035	c.4640G>C	c.(4639-4641)AGA>ACA	p.R1547T	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.R1540T|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTCTGGCTCTCTTCCATGT	0.428			NA								HNSCC(58;0.16)			96	178					0	0	0.01441	0	0
PCDH15	65217	broad.mit.edu	37	10	55626616	55626616	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:55626616G>T	uc001jju.1	-	27	3898	c.3503C>A	c.(3502-3504)GCT>GAT	p.A1168D	PCDH15_uc010qhq.1_Missense_Mutation_p.A1173D|PCDH15_uc010qhr.1_Missense_Mutation_p.A1168D|PCDH15_uc010qhs.1_Missense_Mutation_p.A1180D|PCDH15_uc010qht.1_Missense_Mutation_p.A1175D|PCDH15_uc010qhu.1_Missense_Mutation_p.A1168D|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.A1168D|PCDH15_uc010qhw.1_Missense_Mutation_p.A1131D|PCDH15_uc010qhx.1_Missense_Mutation_p.A1097D|PCDH15_uc010qhy.1_Missense_Mutation_p.A1173D|PCDH15_uc010qhz.1_Missense_Mutation_p.A1168D|PCDH15_uc010qia.1_Missense_Mutation_p.A1146D|PCDH15_uc010qib.1_Missense_Mutation_p.A1146D	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1168	Cadherin 11.|Extracellular (Potential).				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			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTATCAGTAGCCTAGACGGA	0.343			NA								HNSCC(58;0.16)			41	113					4.00102e-26	6.31113e-26	0.00623	1	0
FAM13C	220965	broad.mit.edu	37	10	61022292	61022292	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:61022292C>A	uc001jkn.2	-	11	1272	c.1138G>T	c.(1138-1140)GGC>TGC	p.G380C	FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.G297C|FAM13C_uc010qie.1_Missense_Mutation_p.G297C|FAM13C_uc010qif.1_Missense_Mutation_p.G402C|FAM13C_uc001jkp.2_Missense_Mutation_p.G297C	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	380										ovary(2)	2						GGCTCCGGGCCCGCAGCTTCC	0.552			NA											47	67					3.94638e-17	5.7147e-17	0.01441	1	0
UNC5B	219699	broad.mit.edu	37	10	73053228	73053228	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:73053228G>A	uc001jro.2	+	12	2284	c.1839G>A	c.(1837-1839)CTG>CTA	p.L613L	UNC5B_uc001jrp.2_Silent_p.L602L	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B precursor	613	Cytoplasmic (Potential).|ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				ovary(2)|lung(1)	3						CAGGCCTCCTGCTGTGCCGCC	0.637			NA											23	129					0	0	0.003954	0	0
SORBS1	10580	broad.mit.edu	37	10	97158866	97158866	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:97158866C>G	uc001kkp.2	-	10	1111	c.1066G>C	c.(1066-1068)GAA>CAA	p.E356Q	SORBS1_uc001kkl.2_5'UTR|SORBS1_uc001kkn.2_Missense_Mutation_p.E189Q|SORBS1_uc001kkm.2_Missense_Mutation_p.E212Q|SORBS1_uc001kko.2_Missense_Mutation_p.E356Q|SORBS1_uc001kkq.2_Missense_Mutation_p.E287Q|SORBS1_uc001kkr.2_Missense_Mutation_p.E192Q|SORBS1_uc001kks.2_Missense_Mutation_p.E192Q|SORBS1_uc001kkt.2_RNA|SORBS1_uc001kku.2_Missense_Mutation_p.E233Q|SORBS1_uc001kkv.2_Missense_Mutation_p.E324Q|SORBS1_uc001kkw.2_Missense_Mutation_p.E356Q|SORBS1_uc010qoe.1_Missense_Mutation_p.E201Q|SORBS1_uc010qof.1_Missense_Mutation_p.E554Q	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	356					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCTCTTTTTTCAATAGCCTTG	0.493			NA											28	81					0	0	0.005443	0	0
GFRA1	2674	broad.mit.edu	37	10	117885022	117885022	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:117885022G>T	uc001lcj.2	-	6	1178	c.480C>A	c.(478-480)GCC>GCA	p.A160A	GFRA1_uc001lci.2_Silent_p.A155A|GFRA1_uc009xyr.2_Silent_p.A155A	NM_005264	NP_005255	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1 isoform a	160	2.				axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			ovary(1)|pancreas(1)	2		Lung NSC(174;0.21)		all cancers(201;0.0337)		CGAGGTTGCAGGCCTTCGCTG	0.562	Ovarian(128;329 1725 45498 46808 50759)		NA											12	28					0.00010058	0.000110139	0.013537	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357673	118357673	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:118357673G>T	uc001lco.1	+	8	827	c.809G>T	c.(808-810)TGG>TTG	p.W270L	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.W270L	NM_006229	NP_006220	P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1 precursor	270					lipid metabolic process		calcium ion binding|triglyceride lipase activity			ovary(1)|breast(1)	2				all cancers(201;0.0161)		GATGGCATCTGGGCGGGTAAA	0.502			NA											10	28					7.48243e-07	8.85198e-07	0.006214	1	0
MKI67	4288	broad.mit.edu	37	10	129901424	129901424	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:129901424C>A	uc001lke.2	-	13	8875	c.8680G>T	c.(8680-8682)GAC>TAC	p.D2894Y	MKI67_uc001lkf.2_Missense_Mutation_p.D2534Y|MKI67_uc009yav.1_Missense_Mutation_p.D2469Y|MKI67_uc009yaw.1_Missense_Mutation_p.D2044Y	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	2894	16 X 122 AA approximate repeats.|16.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCTGCGTCCAGCTTCCGC	0.547			NA											45	159					3.7052e-28	6.02379e-28	0.013114	1	0
OR52J3	119679	broad.mit.edu	37	11	5068622	5068622	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:5068622C>T	uc010qyv.1	+	1	867	c.867C>T	c.(865-867)AAC>AAT	p.N289N		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|lung(1)|skin(1)	3		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCTCTCAACCCCATCATTT	0.388			NA											26	105					0	0	0.007291	0	0
OR51I2	390064	broad.mit.edu	37	11	5474954	5474954	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:5474954C>A	uc010qzf.1	+	1	236	c.236C>A	c.(235-237)CCC>CAC	p.P79H	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I,	79	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACACTGCCCACTGTACTC	0.502			NA											29	98					9.65021e-13	1.31144e-12	0.010818	1	0
PTH	5741	broad.mit.edu	37	11	13514010	13514010	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:13514010C>T	uc001mlb.2	-	3	405	c.290G>A	c.(289-291)AGT>AAT	p.S97N		NM_000315	NP_000306	P01270	PTHY_HUMAN	parathyroid hormone preproprotein	97					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		CTCTCCAAGACTTTTTTCATG	0.433			NA											15	84					0	0	0.003163	0	0
RRAS2	22800	broad.mit.edu	37	11	14316111	14316111	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:14316111T>C	uc001mlf.3	-	4	627	c.314A>G	c.(313-315)TAT>TGT	p.Y105C	RRAS2_uc009ygq.2_Missense_Mutation_p.Y28C|RRAS2_uc010rco.1_Missense_Mutation_p.Y111C	NM_012250	NP_036382	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	105						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)	1				Epithelial(150;0.203)		TTGAAACTTATAGATTTCTTC	0.308			NA											5	35					0	0	0.001168	0	0
LUZP2	338645	broad.mit.edu	37	11	24759849	24759849	+	Splice_Site	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:24759849G>T	uc001mqs.2	+	4	567	c.333_splice	c.e4+1	p.T111_splice	LUZP2_uc009yif.2_Splice_Site_p.T25_splice|LUZP2_uc009yig.2_Splice_Site_p.T111_splice	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2 precursor							extracellular region				ovary(1)|skin(1)	2						CCAGGCTACTGTAAGTGTGTT	0.368			NA											12	23					1.3612e-06	1.60319e-06	0.003163	1	0
KIF18A	81930	broad.mit.edu	37	11	28116239	28116239	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:28116239T>C	uc001msc.2	-	3	616	c.434A>G	c.(433-435)GAT>GGT	p.D145G		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	kinesin family member 18A	145	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			ovary(2)	2						TTTAATCTCATCCATGCATTT	0.383			NA											27	133					0	0	0.00632	0	0
WT1	7490	broad.mit.edu	37	11	32414287	32414287	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:32414287G>T	uc001mtn.1	-	8	1460	c.1264C>A	c.(1264-1266)CAG>AAG	p.Q422K	WT1_uc001mtl.1_Missense_Mutation_p.Q210K|WT1_uc001mtm.1_Missense_Mutation_p.Q193K|WT1_uc001mto.1_Missense_Mutation_p.Q422K|WT1_uc001mtp.1_Missense_Mutation_p.Q405K|WT1_uc001mtq.1_Missense_Mutation_p.Q405K|WT1_uc009yjs.1_RNA	NM_024426	NP_077744	P19544	WT1_HUMAN	Wilms tumor 1 isoform D	354	C2H2-type 2.				adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGTCACACTGGTATGGTTTC	0.428			NA	D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				22	54					4.26978e-12	5.7146e-12	0.00333	1	0
OR4A15	81328	broad.mit.edu	37	11	55135556	55135556	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:55135556C>T	uc010rif.1	+	1	197	c.197C>T	c.(196-198)ACG>ATG	p.T66M		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	66	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TACATGGTGACGATAATGGGC	0.423			NA											34	110					0	0	0.013726	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798578	55798578	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:55798578C>A	uc010riw.1	+	1	684	c.684C>A	c.(682-684)ATC>ATA	p.I228I		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)					TGTTGAGCATCAAGTCCTCAG	0.448			NA											105	263					2.18974e-44	3.89451e-44	0.01441	1	0
OR5B17	219965	broad.mit.edu	37	11	58125640	58125640	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:58125640C>T	uc010rke.1	-	1	903	c.903G>A	c.(901-903)AAG>AAA	p.K301K		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B,	301	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTCAACAACCTTCATGAATG	0.348			NA											35	118					0	0	0.005524	0	0
OR5B2	390190	broad.mit.edu	37	11	58189942	58189942	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:58189942A>C	uc010rkg.1	-	1	793	c.793T>G	c.(793-795)TCC>GCC	p.S265A		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	265	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGTCCATGGAGTGGCTGGAG	0.498			NA											13	45					0	0	0.00245	0	0
TCN1	6947	broad.mit.edu	37	11	59626664	59626664	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:59626664T>C	uc001noj.2	-	5	731	c.633A>G	c.(631-633)GAA>GAG	p.E211E		NM_001062	NP_001053	P20061	TCO1_HUMAN	transcobalamin I precursor	211					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			ovary(2)	2		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAAACTGCCTTCATCTGCTT	0.388			NA											40	201					0	0	0.00623	0	0
MS4A14	84689	broad.mit.edu	37	11	60183087	60183087	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:60183087C>A	uc001npj.2	+	5	1211	c.646C>A	c.(646-648)CCT>ACT	p.P216T	MS4A14_uc001npi.2_Missense_Mutation_p.P104T|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.P199T|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	216						integral to membrane	receptor activity			breast(1)	1						CTCTAGGAGTCCTTTAGTCTC	0.383			NA											11	123					3.07112e-06	3.5695e-06	0.010729	1	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276953	71276953	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:71276953G>T	uc001oqt.1	+	1	345	c.320G>T	c.(319-321)TGT>TTT	p.C107F		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	107	7 X 4 AA repeats of C-C-X-P.					keratin filament				skin(1)	1						TGTGGTTCTTGTGGGGGCTCC	0.677			NA											26	34					1.30409e-13	1.80934e-13	0.01441	1	0
GRM5	2915	broad.mit.edu	37	11	88300589	88300589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:88300589G>T	uc001pcq.2	-	7	2462	c.2262C>A	c.(2260-2262)TGC>TGA	p.C754*	GRM5_uc009yvm.2_Nonsense_Mutation_p.C754*	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	754	Helical; Name=5; (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CATAGAAGGTGCAGCTCAAAA	0.443			NA											70	125					2.26907e-38	3.93008e-38	0.01441	1	0
FAT3	120114	broad.mit.edu	37	11	92613965	92613965	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:92613965C>T	uc001pdj.3	+	22	12213	c.12196C>T	c.(12196-12198)CCA>TCA	p.P4066S	FAT3_uc001pdi.3_Missense_Mutation_p.P506S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	4066	EGF-like 3.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCCTGCTTCCCAAACCCCTG	0.493			NA								TCGA Ovarian(4;0.039)			85	166					0	0	0.01441	0	0
MTMR2	8898	broad.mit.edu	37	11	95583771	95583771	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:95583771C>T	uc001pfu.2	-	8	1050	c.797G>A	c.(796-798)CGT>CAT	p.R266H	MTMR2_uc001pfv.2_Missense_Mutation_p.R194H|MTMR2_uc001pfs.2_Missense_Mutation_p.R194H|MTMR2_uc001pft.2_Missense_Mutation_p.R194H|MTMR2_uc010ruj.1_Missense_Mutation_p.R249H	NM_016156	NP_057240	Q13614	MTMR2_HUMAN	myotubularin-related protein 2 isoform 1	266	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			pancreas(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACTGGGATACGGCCTCTTGA	0.408			NA											28	119					0	0	0.00632	0	0
CD4	920	broad.mit.edu	37	12	6909341	6909341	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:6909341G>T	uc001qqv.1	+	2	282	c.37G>T	c.(37-39)GTG>TTG	p.V13L	CD4_uc009zez.1_Missense_Mutation_p.V13L|CD4_uc009zfa.1_Intron|CD4_uc009zfb.1_Intron|CD4_uc010sfj.1_Intron|CD4_uc009zfc.1_Intron|CD4_uc010sfk.1_Intron|CD4_uc010sfl.1_Intron	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	13					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				CTTGCTTCTGGTGCTGCAACT	0.597			NA											14	96					0.00074312	0.000787707	0.006122	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:25398285C>A	uc001rgp.1	-	2	215	c.34G>T	c.(34-36)GGT>TGT	p.G12C	KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			7	23					7.48243e-07	8.85198e-07	0.006214	1	0
SSPN	8082	broad.mit.edu	37	12	26377286	26377286	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:26377286C>T	uc001rhe.2	+	2	440	c.340C>T	c.(340-342)CGG>TGG	p.R114W	SSPN_uc001rhd.2_Missense_Mutation_p.R11W|SSPN_uc009zjf.2_Missense_Mutation_p.R114W|SSPN_uc001rhf.3_Intron	NM_005086	NP_005077	Q14714	SSPN_HUMAN	sarcospan isoform 1	114	Cytoplasmic (Potential).				cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle					0	Colorectal(261;0.0847)					GGTTGACGAACGGACATGTAT	0.378			NA											17	513					0	0	0.006122	0	0
ITPR2	3709	broad.mit.edu	37	12	26596496	26596496	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:26596496T>A	uc001rhg.2	-	46	6847	c.6430A>T	c.(6430-6432)AAC>TAC	p.N2144Y	ITPR2_uc009zjg.1_Missense_Mutation_p.N295Y	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2144	Cytoplasmic (Potential).				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			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GCAGTGTGGTTGGCATAATAC	0.393			NA											27	58					0	0	0.015359	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57995329	57995329	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:57995329T>C	uc001sou.2	+	10	1337	c.1206T>C	c.(1204-1206)ACT>ACC	p.T402T	PIP4K2C_uc001sot.2_Silent_p.T402T|PIP4K2C_uc010srs.1_Silent_p.T384T|PIP4K2C_uc010srt.1_Silent_p.T354T	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	402	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)					AGATCTCTACTGTCCATCCGG	0.532			NA											35	151					0	0	0.005524	0	0
HMGA2	8091	broad.mit.edu	37	12	66221790	66221790	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:66221790G>T	uc001ssx.2	+	2	932	c.121G>T	c.(121-123)GGT>TGT	p.G41C	RPSAP52_uc001sso.2_5'Flank|HMGA2_uc001ssw.1_Missense_Mutation_p.G41C|HMGA2_uc001ssp.1_RNA|HMGA2_uc010ssv.1_RNA|HMGA2_uc001sss.1_RNA|HMGA2_uc001sst.1_Missense_Mutation_p.G41C|HMGA2_uc001ssu.1_Missense_Mutation_p.G41C|HMGA2_uc001ssv.2_Missense_Mutation_p.G41C	NM_003483	NP_003474	P52926	HMGA2_HUMAN	high mobility group AT-hook 2 isoform a	41					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/LPP(161)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/RAD51B(11)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/CCNB1IP1(2)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/COX6C(2)	soft_tissue(159)|bone(27)|salivary_gland(22)	208	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GGAACCAACCGGTGAGCCCTC	0.448			NA	T	LHFP|RAD51L1|LPP|HEI10|COX6C|CMKOR1|NFIB|ALDH2|CCNB1IP1|EBF1|WIF1|FHIT	lipoma|leiomyoma|pleiomorphic salivary gland adenoma								16	86					3.52763e-06	4.08219e-06	0.00499	1	0
GLIPR1	11010	broad.mit.edu	37	12	75875665	75875665	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:75875665C>A	uc001sxs.2	+	2	374	c.226C>A	c.(226-228)CAG>AAG	p.Q76K	GLIPR1_uc009zsb.1_Missense_Mutation_p.Q76K	NM_006851	NP_006842	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1 precursor	76					cellular lipid metabolic process	extracellular region|integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3						CAGCAATTGCCAGTTTTCACA	0.463			NA											71	154					2.18329e-32	3.63881e-32	0.01441	1	0
NAV3	89795	broad.mit.edu	37	12	78400364	78400364	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:78400364C>A	uc001syp.2	+	8	1219	c.1046C>A	c.(1045-1047)ACT>AAT	p.T349N	NAV3_uc001syo.2_Missense_Mutation_p.T349N	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	349						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						ACCATGTTGACTGTAAAGCAG	0.557			NA								HNSCC(70;0.22)			28	58					4.59853e-10	5.91558e-10	0.005443	1	0
BTBD11	121551	broad.mit.edu	37	12	107914364	107914364	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:107914364C>A	uc001tmk.1	+	2	1757	c.1236C>A	c.(1234-1236)ACC>ACA	p.T412T	BTBD11_uc009zut.1_Silent_p.T412T|BTBD11_uc001tmj.2_Silent_p.T412T	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11 isoform a	412						integral to membrane	DNA binding			skin(2)|ovary(1)	3						AGCTGAGGACCATCGAGCAGT	0.557			NA											14	94					3.41278e-10	4.41165e-10	0.00499	1	0
KL	9365	broad.mit.edu	37	13	33635122	33635122	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:33635122G>A	uc001uus.2	+	4	1914	c.1906G>A	c.(1906-1908)GCC>ACC	p.A636T	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	klotho precursor	636	Glycosyl hydrolase-1 2.|Extracellular (Potential).				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			large_intestine(1)|ovary(1)|skin(1)	3	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCAGTGGTGGCCCTGTGGCA	0.632			NA											4	36					0	0	0.014758	0	0
TRPC4	7223	broad.mit.edu	37	13	38225510	38225510	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:38225510G>A	uc001uws.2	-	8	2206	c.1971C>T	c.(1969-1971)TTC>TTT	p.F657F	TRPC4_uc010abv.2_Silent_p.F237F|TRPC4_uc001uwt.2_Silent_p.F657F|TRPC4_uc010tey.1_Silent_p.F657F|TRPC4_uc010abw.2_Silent_p.F484F|TRPC4_uc010abx.2_Silent_p.F657F|TRPC4_uc010aby.2_Intron	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	657	Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGATGACATTGAAGGGAGTAG	0.433			NA											20	108					0	0	0.014323	0	0
KLHL1	57626	broad.mit.edu	37	13	70681814	70681814	+	Silent	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:70681814T>A	uc001vip.2	-	1	812	c.18A>T	c.(16-18)CGA>CGT	p.R6R	KLHL1_uc010thm.1_Silent_p.R6R|ATXN8OS_uc010aej.1_RNA	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	6					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CGAAGTCTTTTCGCCCAGAGC	0.642			NA											11	21					0	0	0.008291	0	0
DACH1	1602	broad.mit.edu	37	13	72134055	72134055	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:72134055G>A	uc010thn.1	-	6	1755	c.1332C>T	c.(1330-1332)CCC>CCT	p.P444P	DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	dachshund homolog 1 isoform a	496					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			breast(1)	1		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTCCAGAGAGGGGGCAGGTG	0.542			NA											11	19					0	0	0.008291	0	0
ERCC5	2073	broad.mit.edu	37	13	103460022	103460022	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:103460022C>T	uc001vpu.1	+	1	527	c.405C>T	c.(403-405)GGC>GGT	p.G135G	BIVM_uc001vps.2_Silent_p.G135G|BIVM_uc010agc.2_Intron|BIVM_uc001vpt.2_Silent_p.G135G	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ACAGCCTGGGCAAGCTACCTC	0.393			NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				9	84					0	0	0.004482	0	0
POTEG	404785	broad.mit.edu	37	14	19566042	19566042	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:19566042A>G	uc001vuz.1	+	6	1138	c.1086A>G	c.(1084-1086)GAA>GAG	p.E362E	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA|uc001vvb.2_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	362										ovary(1)	1						ACTACAAAGAAAAACAGATGC	0.239			NA											11	138					0	0	0.013537	0	0
LTBP2	4053	broad.mit.edu	37	14	75078524	75078524	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:75078524T>A	uc001xqa.2	-	1	511	c.124A>T	c.(124-126)AGA>TGA	p.R42*		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	42					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTCGTATCTCCCTACGGGG	0.701			NA											4	18					0	0	0.001984	0	0
SERPINA11	256394	broad.mit.edu	37	14	94915055	94915055	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:94915055A>T	uc001ydd.1	-	2	117	c.57T>A	c.(55-57)TGT>TGA	p.C19*		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1	19					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)	1				COAD - Colon adenocarcinoma(157;0.211)		GAAGGGGCTGACAGTGGACAG	0.547			NA											28	141					0	0	0.008361	0	0
DICER1	23405	broad.mit.edu	37	14	95556997	95556997	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:95556997C>A	uc001ydw.2	-	28	5789	c.5607G>T	c.(5605-5607)CCG>CCT	p.P1869P	DICER1_uc010avh.1_Silent_p.P767P|DICER1_uc001ydv.2_Silent_p.P1859P|DICER1_uc001ydx.2_Silent_p.P1869P	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1869	DRBM.				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 myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCTCTCAGCCGGGCTGTAAA	0.433			NA	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				121	199					4.08092e-63	7.40714e-63	0.01441	1	0
ADAM6	8755	broad.mit.edu	37	14	106452657	106452657	+	Splice_Site	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:106452657T>A	uc010tyt.1	-	1975		c.38098_splice	c.e1975+1							Parts of antibodies, mostly variable regions.												0						GGATGTGGGTTTTCACACTGT	0.498			NA											77	174					0	0	0.01441	0	0
ACAN	176	broad.mit.edu	37	15	89402517	89402517	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr15:89402517T>C	uc010upo.1	+	12	7075	c.6701T>C	c.(6700-6702)CTA>CCA	p.L2234P	ACAN_uc010upp.1_Missense_Mutation_p.L2234P|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2234					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGACGCATCTAGAAATTGAG	0.572			NA											4	15					0	0	0.014758	0	0
ABCA3	21	broad.mit.edu	37	16	2376065	2376065	+	Missense_Mutation	SNP	C	C	A	rs150902383		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:2376065C>A	uc002cpy.1	-	5	977	c.265G>T	c.(265-267)GCT>TCT	p.A89S	ABCA3_uc010bsk.1_Missense_Mutation_p.A89S|ABCA3_uc010bsl.1_Missense_Mutation_p.A89S|ABCA3_uc002cpz.1_Missense_Mutation_p.A89S	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	89					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GTCTTGGCAGCGTCACTGTGA	0.612			NA											29	54					2.4375e-19	3.60859e-19	0.007291	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857046	9857046	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:9857046C>T	uc002czo.3	-	13	4903	c.4355G>A	c.(4354-4356)CGC>CAC	p.R1452H	GRIN2A_uc010uym.1_Missense_Mutation_p.R1452H|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1452	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTGTACACGCGTCTATTGCT	0.363			NA											15	99					0	0	0.00245	0	0
CLEC16A	23274	broad.mit.edu	37	16	11217633	11217633	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:11217633G>A	uc002dao.2	+	21	2533	c.2303G>A	c.(2302-2304)CGT>CAT	p.R768H	CLEC16A_uc002dan.3_Missense_Mutation_p.R750H|CLEC16A_uc002dap.2_5'Flank	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	768										ovary(1)|central_nervous_system(1)	2						GACGACAGCCGTGCCCTGAAC	0.592			NA											22	74					0	0	0.016522	0	0
GP2	2813	broad.mit.edu	37	16	20327355	20327355	+	Nonsense_Mutation	SNP	G	G	T	rs140017290		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:20327355G>T	uc002dgv.2	-	10	1516	c.1433C>A	c.(1432-1434)TCA>TAA	p.S478*	GP2_uc002dgw.2_Nonsense_Mutation_p.S475*|GP2_uc002dgx.2_Nonsense_Mutation_p.S331*|GP2_uc002dgy.2_Nonsense_Mutation_p.S328*	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	478	ZP.					anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4						TTGACTTCTTGAGCAAGACTG	0.478			NA											24	70					3.7963e-18	5.55813e-18	0.00333	1	0
RBBP6	5930	broad.mit.edu	37	16	24582841	24582841	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:24582841C>A	uc002dmh.2	+	18	5494	c.4454C>A	c.(4453-4455)TCC>TAC	p.S1485Y	RBBP6_uc002dmi.2_Missense_Mutation_p.S1451Y|RBBP6_uc010bxr.2_Missense_Mutation_p.S645Y|RBBP6_uc002dmk.2_Missense_Mutation_p.S1318Y	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	1485	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		TATTCAAGTTCCAAACGTAGA	0.378			NA											17	87					3.45872e-05	3.91692e-05	0.004007	1	0
KIAA0556	23247	broad.mit.edu	37	16	27710904	27710904	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:27710904A>T	uc002dow.2	+	10	1187	c.1163A>T	c.(1162-1164)AAG>ATG	p.K388M	KIAA0556_uc002dox.1_Missense_Mutation_p.K296M	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	388										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						CTGGAGGAGAAGGAAGAGACC	0.502			NA											13	56					0	0	0.003163	0	0
C16orf92	146378	broad.mit.edu	37	16	30035098	30035098	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:30035098C>T	uc002dvs.2	+	2	202	c.181C>T	c.(181-183)CGC>TGC	p.R61C	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.R39C	NM_001109660	NP_001103130	Q96LL3	CP092_HUMAN	hypothetical protein LOC146378 isoform 2	61						integral to membrane					0						AGAGTCTCCGCGCTTCTTAGA	0.567			NA											4	65					0	0	0.009096	0	0
ITGAM	3684	broad.mit.edu	37	16	31283251	31283251	+	Silent	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:31283251G>C	uc002ebq.2	+	7	740	c.642G>C	c.(640-642)CTG>CTC	p.L214L	ITGAM_uc002ebr.2_Silent_p.L214L	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	214	VWFA.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						CAAGATCACTGGTGAAGCCAA	0.537			NA											40	113					0	0	0.011902	0	0
ZNF267	10308	broad.mit.edu	37	16	31926644	31926644	+	Silent	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:31926644C>G	uc002ecs.3	+	4	1283	c.1074C>G	c.(1072-1074)GTC>GTG	p.V358V		NM_003414	NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	358					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)|skin(1)	4						GTGGCAAGGTCTTTAACCTTA	0.358			NA											105	297					0	0	0.01441	0	0
MMP2	4313	broad.mit.edu	37	16	55532290	55532290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:55532290C>T	uc002ehz.3	+	11	2010	c.1699C>T	c.(1699-1701)CGA>TGA	p.R567*	MMP2_uc010vhd.1_Nonsense_Mutation_p.R491*|MMP2_uc010ccc.2_Nonsense_Mutation_p.R517*|MMP2_uc002eia.3_Nonsense_Mutation_p.R64*	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	567	Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGATGTCCAGCGAGTGGATGC	0.562			NA											15	101					0	0	0.014323	0	0
COG4	25839	broad.mit.edu	37	16	70517776	70517776	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:70517776T>C	uc002ezc.2	-	14	1818	c.1807A>G	c.(1807-1809)AAA>GAA	p.K603E	COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Missense_Mutation_p.K59E|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.K582E|COG4_uc002eze.2_Missense_Mutation_p.K297E	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	599					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				TCTCGGAATTTGTTGGACACG	0.552			NA											42	104					0	0	0.01441	0	0
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:7577108C>A	uc002gim.2	-	8	1024	c.830G>T	c.(829-831)TGT>TTT	p.C277F	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C277F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C145F|TP53_uc010cng.1_Missense_Mutation_p.C145F|TP53_uc002gii.1_Missense_Mutation_p.C145F|TP53_uc010cnh.1_Missense_Mutation_p.C277F|TP53_uc010cni.1_Missense_Mutation_p.C277F|TP53_uc002gij.2_Missense_Mutation_p.C277F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	277	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> W (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|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|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C277F(20)|p.C277Y(15)|p.0?(7)|p.C277*(6)|p.C277G(4)|p.C277C(4)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.L265_K305del41(1)|p.C275_R283delCACPGRDRR(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275fs*20(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		TCTCCCAGGACAGGCACAAAC	0.547	Pancreas(47;798 1329 9957 10801)		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_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)			13	27					1.49906e-05	1.70494e-05	0.00245	1	0
MYH2	4620	broad.mit.edu	37	17	10426663	10426663	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:10426663G>C	uc010coi.2	-	38	5667	c.5539C>G	c.(5539-5541)CGC>GGC	p.R1847G	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1847G|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1847	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						TCATGTTTGCGCAGACCTTTG	0.468			NA											20	124					0	0	0.010504	0	0
FBXO47	494188	broad.mit.edu	37	17	37099079	37099079	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:37099079C>A	uc002hrc.2	-	9	1235	c.1035G>T	c.(1033-1035)GTG>GTT	p.V345V		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	F-box protein 47	345											0						TGCGTCCATTCACAGCTTTAC	0.398			NA											57	68					4.32865e-36	7.40059e-36	0.01441	1	0
MED1	5469	broad.mit.edu	37	17	37565089	37565089	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:37565089T>C	uc002hrv.3	-	17	3597	c.3385A>G	c.(3385-3387)AGC>GGC	p.S1129G	MED1_uc010wee.1_Missense_Mutation_p.S957G|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	mediator complex subunit 1	1129	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	8		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TACATACTGCTACTTAACTTG	0.483	Pancreas(21;279 768 2492 4877 24026)		NA								HNSCC(31;0.082)			7	38					0	0	0.00308	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262039	39262039	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:39262039C>G	uc010wfp.1	+	1	399	c.399C>G	c.(397-399)AGC>AGG	p.S133R		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	133	21.|29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament					0						gtgtgtccagctgctgcaagc	0.184			NA											4	30					0	0	0.004482	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47075134	47075134	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:47075134C>T	uc002iom.2	+	1	361	c.27C>T	c.(25-27)CTC>CTT	p.L9L	IGF2BP1_uc010dbj.2_Silent_p.L9L	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	9	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						TCGGCAACCTCAACGAGAGCG	0.642	Esophageal Squamous(198;1041 2123 8248 37119 38268)		NA											18	93					0	0	0.012319	0	0
MYST2	11143	broad.mit.edu	37	17	47904793	47904793	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:47904793G>T	uc002ipm.2	+	15	1891	c.1765G>T	c.(1765-1767)GCC>TCC	p.A589S	MYST2_uc010wma.1_Missense_Mutation_p.A450S|MYST2_uc010wmb.1_Missense_Mutation_p.A479S|MYST2_uc010wmc.1_Missense_Mutation_p.A420S|MYST2_uc010wmd.1_Missense_Mutation_p.A433S|MYST2_uc010wme.1_Missense_Mutation_p.A403S|MYST2_uc010wmf.1_Missense_Mutation_p.A254S|MYST2_uc010wmg.1_Missense_Mutation_p.A144S	NM_007067	NP_008998	O95251	MYST2_HUMAN	MYST histone acetyltransferase 2	589					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3						AGCCAAAGAGGCCAAAAGGTC	0.453			NA											23	53					3.01185e-09	3.80067e-09	0.003954	1	0
KIF2B	84643	broad.mit.edu	37	17	51901330	51901330	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:51901330C>T	uc002iua.2	+	1	1092	c.936C>T	c.(934-936)ACC>ACT	p.T312T	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	312	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						AGACGTACACCATGGGTGGAG	0.542			NA											65	88					0	0	0.01441	0	0
ESCO1	114799	broad.mit.edu	37	18	19110322	19110322	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr18:19110322A>G	uc002kth.1	-	12	3439	c.2505T>C	c.(2503-2505)AAT>AAC	p.N835N	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	835					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0						TATTCTGTCCATTAATAAAAT	0.398			NA											10	109					0	0	0.008291	0	0
LAMA3	3909	broad.mit.edu	37	18	21513860	21513860	+	Silent	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr18:21513860T>A	uc002kuq.2	+	67	8909	c.8823T>A	c.(8821-8823)TCT>TCA	p.S2941S	LAMA3_uc002kur.2_Silent_p.S2885S|LAMA3_uc002kus.3_Silent_p.S1332S|LAMA3_uc002kut.3_Silent_p.S1276S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2941					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTAAAGGTTCTACCAGGTTTA	0.468			NA											21	94					0	0	0.016522	0	0
EEF2	1938	broad.mit.edu	37	19	3976626	3976627	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:3976626_3976627CC>AA	uc002lze.2	-	15	2585_2586	c.2502_2503GG>TT	c.(2500-2505)GTGGTG>GTTTTG	p.V835L		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	835						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCCGCCACCACCTGGCTGG	0.658	Colon(165;1804 1908 4071 6587 18799)		NA											7	7					0	0	0.004672	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569323	11569323	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:11569323G>T	uc002mry.1	-	4	817	c.437C>A	c.(436-438)TCC>TAC	p.S146Y	ELAVL3_uc002mrx.1_Missense_Mutation_p.S146Y	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	146	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						GCCGTACTGGGAGAAGAGCTG	0.622			NA											59	87					2.01871e-26	3.22264e-26	0.01441	1	0
ZNF799	90576	broad.mit.edu	37	19	12491639	12491639	+	Missense_Mutation	SNP	A	A	G	rs59301182	by1000genomes	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:12491639A>G	uc002mts.3	-	4	903	c.437T>C	c.(436-438)CTG>CCG	p.L146P				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	252				L -> P (in Ref. 1; AL832890).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						ACATTCATACAGTTTCTCCCC	0.368			NA											5	78					0	0	0.014758	0	0
ZNF799	90576	broad.mit.edu	37	19	12491654	12491654	+	Missense_Mutation	SNP	C	C	T	rs57371898	by1000genomes	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:12491654C>T	uc002mts.3	-	4	888	c.422G>A	c.(421-423)CGT>CAT	p.R141H				Q96GE5	ZN799_HUMAN	Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****.	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6						CTCCCCAGTACGTGTTCTTTC	0.373			NA											4	73					0	0	0.009096	0	0
GIPC1	10755	broad.mit.edu	37	19	14591185	14591185	+	Missense_Mutation	SNP	C	C	A	rs147512845		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:14591185C>A	uc002myt.2	-	6	857	c.587G>T	c.(586-588)CGG>CTG	p.R196L	GIPC1_uc002myu.2_Missense_Mutation_p.R196L|GIPC1_uc002myv.2_Missense_Mutation_p.R99L|GIPC1_uc002myw.2_Missense_Mutation_p.R99L|GIPC1_uc002myx.2_Missense_Mutation_p.R196L|GIPC1_uc002myy.2_Missense_Mutation_p.R99L	NM_005716	NP_005707	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	196	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding				0						CTTGAGCAGCCGGGCCACCTC	0.672	Pancreas(33;78 923 2910 41023 52850)		NA									OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	37					6.00712e-18	8.74663e-18	0.012213	1	0
RYR1	6261	broad.mit.edu	37	19	38949877	38949877	+	Silent	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:38949877C>G	uc002oit.2	+	19	2389	c.2259C>G	c.(2257-2259)TCC>TCG	p.S753S	RYR1_uc002oiu.2_Silent_p.S753S	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	753	Cytoplasmic.|B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGTGCCGTCCATCTCCTTCC	0.622			NA											12	39					0	0	0.010504	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42399487	42399487	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:42399487G>A	uc002orx.2	+	12	1052	c.943G>A	c.(943-945)GGG>AGG	p.G315R	ARHGEF1_uc002orw.1_Missense_Mutation_p.G315R|ARHGEF1_uc002ory.2_Missense_Mutation_p.G282R|ARHGEF1_uc002orz.2_Missense_Mutation_p.G153R|ARHGEF1_uc002osa.2_Missense_Mutation_p.G330R|ARHGEF1_uc002osb.2_Missense_Mutation_p.G297R|ARHGEF1_uc002osc.2_Missense_Mutation_p.G9R|ARHGEF1_uc002osd.2_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	315					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCGGAATATCGGGGCTCCTGG	0.637			NA											12	114					0	0	0.001855	0	0
PSG7	5676	broad.mit.edu	37	19	43441198	43441198	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:43441198G>T	uc002ovl.3	-	1	133	c.31C>A	c.(31-33)CAG>AAG	p.Q11K	PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.Q11K	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	11					female pregnancy	extracellular region					0		Prostate(69;0.00682)				GTTATATGCTGTGTGCAGGGA	0.572			NA											59	73					6.07242e-22	9.35577e-22	0.01441	1	0
PSG11	5680	broad.mit.edu	37	19	43523176	43523176	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:43523176G>T	uc002ovm.1	-	3	562	c.455C>A	c.(454-456)TCC>TAC	p.S152Y	PSG11_uc002ouw.2_Missense_Mutation_p.S158Y|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.S158Y|PSG11_uc002ovn.1_Missense_Mutation_p.S158Y|PSG11_uc002ovo.1_Missense_Mutation_p.S30Y|PSG11_uc002ovp.1_Missense_Mutation_p.S30Y	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	152	Ig-like C2-type 1.				female pregnancy	extracellular region					0		Prostate(69;0.00682)				GTTGCTGCTGGAGATGGAGGG	0.502			NA											45	181					1.00776e-21	1.52603e-21	0.01441	1	0
EHD2	30846	broad.mit.edu	37	19	48244176	48244176	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:48244176G>T	uc002phj.3	+	6	1369	c.1119G>T	c.(1117-1119)TCG>TCT	p.S373S	EHD2_uc010xyu.1_Silent_p.S237S|EHD2_uc010xyv.1_Silent_p.S56S	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	373					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AGTTTCACTCGCTGAAGCCGA	0.637			NA											16	28					6.94344e-10	8.88895e-10	0.006122	1	0
NLRP5	126206	broad.mit.edu	37	19	56539800	56539800	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:56539800G>C	uc002qmj.2	+	7	2201	c.2201G>C	c.(2200-2202)CGG>CCG	p.R734P	NLRP5_uc002qmi.2_Missense_Mutation_p.R715P	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	734	LRR 2.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCGTATTTGCGGAAAATTCGG	0.507			NA											97	138					0	0	0.01441	0	0
SOX11	6664	broad.mit.edu	37	2	5833563	5833563	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:5833563T>A	uc002qyj.2	+	1	765	c.710T>A	c.(709-711)CTG>CAG	p.L237Q		NM_003108	NP_003099	P35716	SOX11_HUMAN	SRY-box 11	237					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(3)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		gaGCTGCAGCTGCAGATCAAA	0.592			NA											6	1					0	0	0.010729	0	0
BIRC6	57448	broad.mit.edu	37	2	32688372	32688372	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:32688372C>T	uc010ezu.2	+	24	4998	c.4864C>T	c.(4864-4866)CAT>TAT	p.H1622Y		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	1622					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GTCTCTCTCTCATGCAATGGC	0.532	Pancreas(94;175 1509 16028 18060 45422)		NA											9	36					0	0	0.006214	0	0
DGUOK	1716	broad.mit.edu	37	2	74166086	74166086	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:74166086A>G	uc002sjx.2	+	2	277	c.192A>G	c.(190-192)GAA>GAG	p.E64E	DGUOK_uc002sjy.2_Silent_p.E64E|DGUOK_uc002sjz.2_Intron	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	deoxyguanosine kinase isoform a precursor	64					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor				0						CTTACCCAGAATGGCACGTAG	0.473			NA											22	146					0	0	0.004656	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540623	133540623	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:133540623G>T	uc002ttp.2	-	14	4135	c.3761C>A	c.(3760-3762)TCC>TAC	p.S1254Y	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1254							protein binding				0						GGAGGAAAGGGATCTTCTCAT	0.517			NA											25	123					6.32553e-13	8.64054e-13	0.004656	1	0
SLC4A10	57282	broad.mit.edu	37	2	162830770	162830770	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:162830770T>C	uc002ubx.3	+	24	3355	c.3171T>C	c.(3169-3171)AGT>AGC	p.S1057S	SLC4A10_uc002uby.3_Silent_p.S1027S|SLC4A10_uc010zcs.1_Silent_p.S1038S	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	1057	Cytoplasmic (Potential).			SM -> CV (in Ref. 1; BAB18301).	bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						AAGAACAAAGTATGCTAGCTA	0.323			NA											7	18					0	0	0.00308	0	0
TTN	7273	broad.mit.edu	37	2	179577475	179577475	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:179577475C>T	uc010zfg.1	-	91	23769	c.23545G>A	c.(23545-23547)GTT>ATT	p.V7849I	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4510I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8776							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATTGCTAACTATGCAAGTA	0.393			NA											36	105					0	0	0.006999	0	0
SESTD1	91404	broad.mit.edu	37	2	179986618	179986618	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:179986618G>C	uc002uni.3	-	13	1471	c.1321C>G	c.(1321-1323)CTC>GTC	p.L441V	SESTD1_uc002unh.3_5'UTR	NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	441	Spectrin 2.				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGATCCAGGAGACCTTGACCT	0.418			NA											37	92					0	0	0.00623	0	0
PDE1A	5136	broad.mit.edu	37	2	183095827	183095827	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:183095827G>T	uc002uos.2	-	6	581	c.497C>A	c.(496-498)GCC>GAC	p.A166D	PDE1A_uc010zfp.1_Missense_Mutation_p.A62D|PDE1A_uc002uoq.1_Missense_Mutation_p.A166D|PDE1A_uc010zfq.1_Missense_Mutation_p.A166D|PDE1A_uc002uor.2_Missense_Mutation_p.A150D|PDE1A_uc002uou.2_Missense_Mutation_p.A132D	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	phosphodiesterase 1A isoform 2	166					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			skin(2)|ovary(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTCATTTAGGGCAAATACATC	0.328			NA											26	126					4.87955e-14	6.8417e-14	0.005443	1	0
NDUFS1	4719	broad.mit.edu	37	2	206992595	206992595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:206992595G>A	uc002vbe.2	-	16	1937	c.1810C>T	c.(1810-1812)CAG>TAG	p.Q604*	NDUFS1_uc010ziq.1_Nonsense_Mutation_p.Q618*|NDUFS1_uc010zir.1_Nonsense_Mutation_p.Q568*|NDUFS1_uc010zis.1_Nonsense_Mutation_p.Q547*|NDUFS1_uc010zit.1_Nonsense_Mutation_p.Q493*|NDUFS1_uc010ziu.1_Nonsense_Mutation_p.Q488*	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	604					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	TTAGTCTGCTGAGCTCTACCC	0.453			NA											43	80					0	0	0.01441	0	0
UNC80	285175	broad.mit.edu	37	2	210642106	210642106	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:210642106G>T	uc010zjc.1	+	4	503	c.423G>T	c.(421-423)TGG>TGT	p.W141C	UNC80_uc002vdj.1_Missense_Mutation_p.W141C	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	chromosome 2 open reading frame 21 isoform 1	141						integral to membrane					0						GCTCCAGCTGGGGTGGAAGCA	0.552			NA											23	103					1.10513e-12	1.49419e-12	0.014323	1	0
DIS3L2	129563	broad.mit.edu	37	2	233195486	233195486	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:233195486G>T	uc010fxz.2	+	16	2286	c.2010G>T	c.(2008-2010)CAG>CAT	p.Q670H	DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S.	670							exonuclease activity|ribonuclease activity|RNA binding			ovary(1)|breast(1)|central_nervous_system(1)	3		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGCCCATGCAGGTAAGGAGGG	0.612			NA											37	114					1.47244e-24	2.30886e-24	0.00623	1	0
C20orf54	113278	broad.mit.edu	37	20	746119	746119	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:746119C>T	uc002wed.3	-	2	639	c.300G>A	c.(298-300)CTG>CTA	p.L100L	C20orf54_uc002wee.2_Silent_p.L100L	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	hypothetical protein LOC113278 precursor	100	Helical; (Potential).				sensory perception of sound	integral to plasma membrane	riboflavin transporter activity			ovary(2)	2						GGTGGCCGTCCAGCACCCAGG	0.597			NA											6	9					0	0	0.001168	0	0
ADRA1D	146	broad.mit.edu	37	20	4228878	4228878	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:4228878C>T	uc002wkr.2	-	1	782	c.727G>A	c.(727-729)GAG>AAG	p.E243K		NM_000678	NP_000669	P25100	ADA1D_HUMAN	alpha-1D-adrenergic receptor	243	Extracellular (By similarity).				cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity				0					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CAGAAGCGCTCGTCAGGGGGC	0.677			NA											7	6					0	0	0.00308	0	0
NCOA6	23054	broad.mit.edu	37	20	33338167	33338167	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:33338167C>A	uc002xav.2	-	10	4402	c.1831G>T	c.(1831-1833)GGC>TGC	p.G611C	NCOA6_uc002xaw.2_Missense_Mutation_p.G611C	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	611	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						TGGGGCTGGCCTTGCATGTTG	0.557			NA											11	56					5.50884e-06	6.31966e-06	0.013537	1	0
ZNF334	55713	broad.mit.edu	37	20	45130940	45130940	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:45130940C>A	uc002xsc.2	-	5	1222	c.1038G>T	c.(1036-1038)GAG>GAT	p.E346D	ZNF334_uc002xsa.2_Missense_Mutation_p.E369D|ZNF334_uc002xsb.2_Missense_Mutation_p.E308D|ZNF334_uc002xsd.2_Missense_Mutation_p.E308D|ZNF334_uc010ghl.2_Missense_Mutation_p.E345D	NM_018102	NP_060572	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334 isoform a	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)				CGTAAGGCTTCTCCCCTGTGT	0.428			NA											64	279					1.87469e-40	3.29002e-40	0.01441	1	0
FAM65C	140876	broad.mit.edu	37	20	49218951	49218951	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:49218951G>A	uc002xvm.2	-	13	1623	c.1305C>T	c.(1303-1305)CAC>CAT	p.H435H	FAM65C_uc010zyt.1_Silent_p.H439H|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Silent_p.H435H	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	435										ovary(2)	2						CAATGGAGGCGTGGGGACCGA	0.652			NA											8	65					0	0	0.006214	0	0
MORC3	23515	broad.mit.edu	37	21	37721643	37721643	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr21:37721643T>C	uc002yvi.2	+	9	1116	c.1040T>C	c.(1039-1041)ATA>ACA	p.I347T		NM_015358	NP_056173	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	347					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			ovary(2)	2						GTTGGAATTATAGAGTGTAAT	0.313			NA											13	83					0	0	0.00499	0	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr21:44524456G>A	uc002zda.1	-	2	185	c.101C>T	c.(100-102)TCT>TTT	p.S34F	U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F	NM_001025203	NP_001020374	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxillary factor 1 isoform	34	C3H1-type 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding				0						GTGCAACCGAGAGCACCTGTC	0.358			NA											26	65					0	0	0.005443	0	0
POTEH	23784	broad.mit.edu	37	22	16287281	16287281	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:16287281T>A	uc010gqp.2	-	1	657	c.605A>T	c.(604-606)GAC>GTC	p.D202V	POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_5'UTR|POTEH_uc002zlj.1_Missense_Mutation_p.D37V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	ANKRD26-like family C, member 3	202	ANK 1.									skin(1)	1						CTTGTTCATGTCAGTGTCCTT	0.567			NA											20	112					0	0	0.016522	0	0
BCR	613	broad.mit.edu	37	22	23630285	23630285	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:23630285G>T	uc002zww.2	+	12	3124	c.2528G>T	c.(2527-2529)AGT>ATT	p.S843I	BCR_uc002zwx.2_Missense_Mutation_p.S843I|BCR_uc011aiy.1_Missense_Mutation_p.S432I|BCR_uc002zwy.1_Missense_Mutation_p.S129I	NM_004327	NP_004318	P11274	BCR_HUMAN	breakpoint cluster region isoform 1	843	PH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12						CCACCCTAGAGTTACACGTTC	0.557			NA	T	ABL1| FGFR1|JAK2 	CML|ALL|AML								20	65					5.26018e-13	7.22252e-13	0.012319	1	0
GGT5	2687	broad.mit.edu	37	22	24621594	24621594	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:24621594C>A	uc002zzo.3	-	9	1673	c.1256G>T	c.(1255-1257)CGG>CTG	p.R419L	GGT5_uc002zzp.3_Missense_Mutation_p.R419L|GGT5_uc002zzr.3_Missense_Mutation_p.R387L|GGT5_uc002zzq.3_Missense_Mutation_p.R387L|GGT5_uc011ajm.1_Missense_Mutation_p.R342L	NM_004121	NP_004112	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5 isoform b	419	Extracellular (Potential).				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(2)|skin(1)	3						GATGCCTGTCCGTGGTGAATA	0.617			NA											6	25					8.12818e-05	8.97487e-05	0.001984	1	0
SLC5A1	6523	broad.mit.edu	37	22	32439311	32439311	+	Silent	SNP	C	C	A	rs33915717		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:32439311C>A	uc003amc.2	+	1	275	c.43C>A	c.(43-45)CGG>AGG	p.R15R		NM_000343	NP_000334	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose	15	Extracellular (Potential).				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			skin(1)	1						CGCGGTCACCCGGCCTGTTGA	0.602			NA											8	27					3.09899e-07	3.69924e-07	0.004482	1	0
BRD1	23774	broad.mit.edu	37	22	50192227	50192227	+	Silent	SNP	C	C	G	rs149829026		TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:50192227C>G	uc003biv.2	-	4	2251	c.1764G>C	c.(1762-1764)GCG>GCC	p.A588A	BRD1_uc011arf.1_Silent_p.A183A|BRD1_uc011arg.1_Silent_p.A642A|BRD1_uc011arh.1_Silent_p.A588A|BRD1_uc003biu.3_Silent_p.A588A	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	588	Bromo.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		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)		TCACGGGCTGCGCAAATATCC	0.627			NA											5	45					0	0	0.014758	0	0
FGD5	152273	broad.mit.edu	37	3	14964604	14964604	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:14964604G>A	uc003bzc.2	+	16	3969	c.3859G>A	c.(3859-3861)GAC>AAC	p.D1287N	FGD5_uc011avk.1_Missense_Mutation_p.D1287N|FGD5_uc003bzd.2_Missense_Mutation_p.D365N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1287	FYVE-type.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						GTACCTGAAGGACAGGATGGC	0.612			NA											8	52					0	0	0.013537	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478677	21478677	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:21478677G>T	uc003cce.2	-	5	866	c.458C>A	c.(457-459)CCA>CAA	p.P153Q	ZNF385D_uc010hfb.1_RNA	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	153	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding			large_intestine(2)|skin(2)|ovary(1)	5						TGATATTGCTGGTGTCCCTGC	0.418			NA											13	123					0.000151284	0.000164981	0.001855	1	0
SCN10A	6336	broad.mit.edu	37	3	38798230	38798230	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:38798230C>A	uc003ciq.2	-	9	1225	c.1225G>T	c.(1225-1227)GAT>TAT	p.D409Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	409					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	TCAATTTCATCAGTGGTTGCC	0.493			NA											35	144					2.09667e-21	3.15691e-21	0.003755	1	0
SCN10A	6336	broad.mit.edu	37	3	38835490	38835490	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:38835490G>A	uc003ciq.2	-	1	12	c.12C>T	c.(10-12)CCC>CCT	p.P4P		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	4					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				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)	GGGATCCAATGGGGAATTCCA	0.473			NA											35	166					0	0	0.005524	0	0
COL7A1	1294	broad.mit.edu	37	3	48614316	48614316	+	Splice_Site	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:48614316C>T	uc003ctz.2	-	66	5605	c.5604_splice	c.e66+1	p.E1868_splice		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAATACTCACTTCTCTCCCA	0.557			NA											19	74					0	0	0.008871	0	0
CELSR3	1951	broad.mit.edu	37	3	48689456	48689456	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:48689456G>A	uc003cul.2	-	12	6058	c.5777C>T	c.(5776-5778)TCT>TTT	p.S1926F	CELSR3_uc003cuf.1_Missense_Mutation_p.S1996F|CELSR3_uc010hkg.2_5'UTR	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	1926	Extracellular (Potential).|Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGGGAGCCAGAGGGTGTGGA	0.657			NA											6	15					0	0	0.00308	0	0
POU1F1	5449	broad.mit.edu	37	3	87311358	87311358	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:87311358G>T	uc003dqq.1	-	4	592	c.467C>A	c.(466-468)GCC>GAC	p.A156D	POU1F1_uc010hoj.1_Missense_Mutation_p.A182D	NM_000306	NP_000297	P28069	PIT1_HUMAN	pituitary specific transcription factor 1	156	POU-specific.				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|skin(1)	2	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AGCTGCCAGGGCCTCCCCAAC	0.423			NA											15	118					1.99824e-07	2.41796e-07	0.00499	1	0
RABL3	285282	broad.mit.edu	37	3	120417347	120417347	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:120417347G>C	uc003edx.2	-	5	487	c.457C>G	c.(457-459)CAT>GAT	p.H153D		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	153	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding				0				GBM - Glioblastoma multiforme(114;0.151)		TTTGTTTCATGAATCTGGTCC	0.363			NA											70	344					0	0	0.01441	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876387	120876387	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:120876387C>G	uc003eec.3	+	9	930	c.790C>G	c.(790-792)CAG>GAG	p.Q264E	STXBP5L_uc011bji.1_Missense_Mutation_p.Q264E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	264	WD 5.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TGAGGGCAAACAGTTCATGTG	0.378			NA											24	71					0	0	0.016522	0	0
HCLS1	3059	broad.mit.edu	37	3	121355331	121355331	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:121355331C>T	uc003eeh.3	-	8	696	c.571G>A	c.(571-573)GCC>ACC	p.A191T	HCLS1_uc011bjj.1_Missense_Mutation_p.A154T|HCLS1_uc011bjk.1_RNA	NM_005335	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	191	Cortactin 4; truncated.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity				0				GBM - Glioblastoma multiforme(114;0.0912)		AAGCCCTTGGCATAATCTGCA	0.448			NA											31	80					0	0	0.007835	0	0
ZIC1	7545	broad.mit.edu	37	3	147130409	147130409	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:147130409C>A	uc003ewe.2	+	2	1806	c.1087C>A	c.(1087-1089)CTT>ATT	p.L363I		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	363	C2H2-type 5.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CAAGCCCTATCTTTGCAAGAT	0.577			NA											19	100					1.01871e-10	1.32985e-10	0.008871	1	0
GPR149	344758	broad.mit.edu	37	3	154147302	154147302	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:154147302A>T	uc003faa.2	-	1	203	c.103T>A	c.(103-105)TAT>AAT	p.Y35N		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	35	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAAAAAAGATAGATATTCAGG	0.393			NA											18	132					0	0	0.010504	0	0
SI	6476	broad.mit.edu	37	3	164756867	164756867	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:164756867G>A	uc003fei.2	-	20	2362	c.2300C>T	c.(2299-2301)TCT>TTT	p.S767F		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	767	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTACTTACAGATTCATAATC	0.284			NA								HNSCC(35;0.089)			5	22					0	0	0.001168	0	0
SAMD7	344658	broad.mit.edu	37	3	169656275	169656275	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:169656275G>A	uc003fgd.2	+	9	1589	c.1322G>A	c.(1321-1323)CGA>CAA	p.R441Q	SAMD7_uc003fge.2_Missense_Mutation_p.R441Q|SAMD7_uc011bpo.1_Missense_Mutation_p.R342Q	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	441										skin(1)	1	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)			GGAATTGAGCGAGGTAGTATG	0.413			NA											4	52					0	0	0.009096	0	0
CPN2	1370	broad.mit.edu	37	3	194062055	194062055	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:194062055C>T	uc003fts.2	-	2	1467	c.1377G>A	c.(1375-1377)CCG>CCA	p.P459P		NM_001080513	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	459					protein stabilization	extracellular region	enzyme regulator activity			ovary(5)	5	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCTTTCGTCCGGCCACGTGA	0.662			NA											17	142					0	0	0.007413	0	0
WHSC1	7468	broad.mit.edu	37	4	1902791	1902791	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:1902791C>T	uc003gdz.3	+	2	586	c.410C>T	c.(409-411)CCT>CTT	p.P137L	WHSC1_uc003geb.3_Missense_Mutation_p.P137L|WHSC1_uc003gec.3_Missense_Mutation_p.P137L|WHSC1_uc003ged.3_Missense_Mutation_p.P137L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.P137L|WHSC1_uc003gdy.1_Missense_Mutation_p.P137L|WHSC1_uc010icd.1_Missense_Mutation_p.P137L|WHSC1_uc003gea.1_Missense_Mutation_p.P137L|WHSC1_uc010ice.1_Missense_Mutation_p.P137L|WHSC1_uc003geg.1_Missense_Mutation_p.P137L|WHSC1_uc003geh.1_Missense_Mutation_p.P137L	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	137					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AATGGGAAGCCTCTCTTTGAA	0.428			NA	T	IGH@	MM								12	59					0	0	0.013537	0	0
DRD5	1816	broad.mit.edu	37	4	9784902	9784902	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:9784902G>A	uc003gmb.3	+	1	1645	c.1249G>A	c.(1249-1251)GCC>ACC	p.A417T		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	417	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GATGCCCAACGCCGTTACCCC	0.557			NA											8	65					0	0	0.008291	0	0
SLC34A2	10568	broad.mit.edu	37	4	25674768	25674768	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:25674768A>T	uc003grr.2	+	10	1189	c.1108A>T	c.(1108-1110)ATA>TTA	p.I370L	SLC34A2_uc003grs.2_Missense_Mutation_p.I369L|SLC34A2_uc010iev.2_Missense_Mutation_p.I369L	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	370	Helical; Name=M4; (Potential).				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			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				CATCTTGCTCATACTCTCCCT	0.527			NA											18	126					0	0	0.007413	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156545	55156545	+	Silent	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:55156545G>C	uc003han.3	+	22	3277	c.2946G>C	c.(2944-2946)GTG>GTC	p.V982V	PDGFRA_uc003haa.2_Silent_p.V742V	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	982	Cytoplasmic (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|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			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	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)	GCATGCGTGTGGACTCAGACA	0.453	Pancreas(151;208 1913 7310 23853 37092)		NA	Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			25	146					0	0	0.005443	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699064	68699064	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:68699064C>G	uc003hdq.2	-	7	615	c.550G>C	c.(550-552)GAG>CAG	p.E184Q	LOC550112_uc003hdl.3_Intron|TMPRSS11D_uc003hdp.2_5'UTR|TMPRSS11D_uc011caj.1_Missense_Mutation_p.E67Q	NM_004262	NP_004253	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	184	Extracellular (Potential).				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1						ATTCTCTGCTCAGACAATGTT	0.507			NA											17	234					0	0	0.006122	0	0
PTPN13	5783	broad.mit.edu	37	4	87730997	87730997	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:87730997G>A	uc003hpz.2	+	46	7639	c.7159G>A	c.(7159-7161)GAT>AAT	p.D2387N	PTPN13_uc003hpy.2_Missense_Mutation_p.D2392N|PTPN13_uc003hqa.2_Missense_Mutation_p.D2368N|PTPN13_uc003hqb.2_Missense_Mutation_p.D2196N	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	2387	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAACCAGATGATCTGCTTAC	0.458			NA											16	133					0	0	0.007413	0	0
ENPEP	2028	broad.mit.edu	37	4	111480849	111480849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:111480849G>T	uc003iab.3	+	19	3031	c.2689G>T	c.(2689-2691)GAG>TAG	p.E897*		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	897	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CACAATAGCAGAGCCATTCAA	0.353			NA											15	76					2.23348e-06	2.60737e-06	0.004007	1	0
ANK2	287	broad.mit.edu	37	4	114279055	114279055	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:114279055C>A	uc003ibe.3	+	38	9381	c.9281C>A	c.(9280-9282)CCA>CAA	p.P3094Q	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.P396Q|ANK2_uc011cgb.1_Missense_Mutation_p.P3109Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	3061					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGGGACCCCAACAAGTGAG	0.458			NA											19	63					7.45023e-12	9.92115e-12	0.010504	1	0
FAT4	79633	broad.mit.edu	37	4	126389833	126389833	+	Silent	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:126389833G>C	uc003ifj.3	+	11	12066	c.12066G>C	c.(12064-12066)CGG>CGC	p.R4022R	FAT4_uc011cgp.1_Silent_p.R2285R|FAT4_uc003ifi.1_Silent_p.R1500R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4022	Laminin G-like 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CAGGCGACCGGGCTGAGTTTT	0.408			NA											17	147					0	0	0.007413	0	0
INPP4B	8821	broad.mit.edu	37	4	143033741	143033741	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:143033741C>G	uc003iix.3	-	23	2825	c.2230G>C	c.(2230-2232)GTA>CTA	p.V744L	INPP4B_uc003iiw.3_Missense_Mutation_p.V744L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.V559L|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	744					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)					TTAAAAAGTACTGGATACACA	0.393			NA											33	167					0	0	0.003755	0	0
DCHS2	54798	broad.mit.edu	37	4	155249289	155249289	+	Missense_Mutation	SNP	G	G	T	rs111557030	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:155249289G>T	uc003inw.2	-	12	2609	c.2609C>A	c.(2608-2610)CCT>CAT	p.P870H	DCHS2_uc003inx.2_Missense_Mutation_p.P1325H	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	870	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTTCATCAGGATCCTTTGC	0.348			NA											46	141					6.27289e-28	1.01361e-27	0.01441	1	0
GALNTL6	442117	broad.mit.edu	37	4	173734827	173734827	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:173734827C>A	uc003isv.2	+	7	1612	c.876C>A	c.(874-876)ATC>ATA	p.I292I		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	292	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						ACAAAAGAATCCCCATCCCTC	0.562			NA											23	51					1.1804e-14	1.69084e-14	0.003954	1	0
HAND2	9464	broad.mit.edu	37	4	174450016	174450016	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:174450016C>T	uc003ith.1	-	1	1363	c.425G>A	c.(424-426)CGC>CAC	p.R142H	NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Silent_p.A107A|HAND2_uc010ire.1_Missense_Mutation_p.R142H	NM_021973	NP_068808	P61296	HAND2_HUMAN	basic helix-loop-helix transcription factor	142	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity			skin(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGTGGCCAGGCGCAGGGTCTT	0.612			NA											10	108					0	0	0.003163	0	0
CTNND2	1501	broad.mit.edu	37	5	11732279	11732279	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:11732279G>T	uc003jfa.1	-	2	288	c.143C>A	c.(142-144)ACC>AAC	p.T48N	CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	48					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GATGGCAGAGGTGGTTTCTGT	0.473			NA											44	293					2.24722e-20	3.36448e-20	0.01441	1	0
UGT3A1	133688	broad.mit.edu	37	5	35954564	35954564	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:35954564C>A	uc003jjv.1	-	7	1469	c.1312G>T	c.(1312-1314)GTG>TTG	p.V438L	UGT3A1_uc003jjw.1_RNA	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	438	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGCTGCCACCACTGCCGAC	0.587			NA											12	26					3.27435e-08	4.05469e-08	0.00245	1	0
HEATR7B2	133558	broad.mit.edu	37	5	41038956	41038956	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:41038956G>T	uc003jmj.3	-	21	2586	c.2096C>A	c.(2095-2097)ACA>AAA	p.T699K	HEATR7B2_uc003jmi.3_Missense_Mutation_p.T254K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	699	HEAT 8.						binding			ovary(6)|central_nervous_system(2)	8						CATGACATCTGTCTTGGTCAG	0.433			NA											28	60					9.78306e-22	1.48995e-21	0.009535	1	0
HCN1	348980	broad.mit.edu	37	5	45262097	45262097	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:45262097G>T	uc003jok.2	-	8	2624	c.2599C>A	c.(2599-2601)CTT>ATT	p.L867I		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	867	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						TCTCTTGGAAGAGCAGCTGCT	0.552			NA											60	177					6.26901e-30	1.02549e-29	0.01441	1	0
SV2C	22987	broad.mit.edu	37	5	75596736	75596736	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:75596736A>G	uc003kei.1	+	11	1953	c.1819A>G	c.(1819-1821)ATT>GTT	p.I607V		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	607	Cytoplasmic (Potential).				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			skin(1)	1		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GATGGACAGAATTGGGCGCTT	0.463			NA											94	132					0	0	0.01441	0	0
THBS4	7060	broad.mit.edu	37	5	79351687	79351687	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:79351687G>T	uc003kgh.2	+	4	695	c.372G>T	c.(370-372)CGG>CGT	p.R124R		NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	124	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACGGAAGGCGGCACAGGATCC	0.567			NA											13	186					0.00010058	0.000110139	0.013537	1	0
PCDHB8	56128	broad.mit.edu	37	5	140559207	140559207	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:140559207G>A	uc011dai.1	+	1	1778	c.1592G>A	c.(1591-1593)CGG>CAG	p.R531Q	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	531	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGGGTGGGCGCT	0.672			NA											29	219					0	0	0.008361	0	0
FBXO38	81545	broad.mit.edu	37	5	147813274	147813274	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:147813274A>T	uc003lpf.1	+	17	2951	c.2831A>T	c.(2830-2832)GAC>GTC	p.D944V	FBXO38_uc003lpg.1_Missense_Mutation_p.D869V|FBXO38_uc003lph.2_Missense_Mutation_p.D699V	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	F-box protein 38 isoform b	944						cytoplasm|nucleus				ovary(4)|skin(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTAAAAGACTGTCCAAAG	0.333			NA											38	145					0	0	0.005524	0	0
LARP1	23367	broad.mit.edu	37	5	154169891	154169891	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:154169891C>T	uc003lvp.2	+	2	872	c.443C>T	c.(442-444)TCT>TTT	p.S148F	LARP1_uc003lvo.2_Missense_Mutation_p.S71F|LARP1_uc010jie.1_5'UTR	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	la related protein isoform 2	148							protein binding|RNA binding			ovary(2)|pancreas(1)|skin(1)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAGAACACTCTGCTCCAGCC	0.547			NA											47	72					0	0	0.01441	0	0
RNF145	153830	broad.mit.edu	37	5	158595962	158595962	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:158595962A>C	uc003lxp.2	-	8	1353	c.1040T>G	c.(1039-1041)TTC>TGC	p.F347C	RNF145_uc011ddy.1_Missense_Mutation_p.F361C|RNF145_uc003lxo.1_Missense_Mutation_p.F375C|RNF145_uc011ddz.1_Missense_Mutation_p.F364C|RNF145_uc010jiq.1_Missense_Mutation_p.F377C	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	347	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACGACAATGAAAAGGATAAT	0.428			NA											8	174					0	0	0.004482	0	0
SLIT3	6586	broad.mit.edu	37	5	168135055	168135055	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:168135055G>T	uc003mab.2	-	26	3190	c.2770C>A	c.(2770-2772)CCG>ACG	p.P924T	SLIT3_uc010jjg.2_Missense_Mutation_p.P931T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	924	EGF-like 1.				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|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	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)			TTCTTGCACGGGCTGGAGAGG	0.602	Ovarian(29;311 847 10864 17279 24903)		NA											6	102					8.12818e-05	8.97487e-05	0.001984	1	0
GFPT2	9945	broad.mit.edu	37	5	179734239	179734239	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:179734239C>A	uc003mlw.1	-	16	1709	c.1611G>T	c.(1609-1611)ACG>ACT	p.T537T		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	537	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GCGATCTCTGCGTGTAGAGCT	0.522			NA											11	40					6.40141e-05	7.12762e-05	0.010729	1	0
CNOT6	57472	broad.mit.edu	37	5	179976929	179976929	+	Splice_Site	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:179976929A>G	uc003mlx.2	+	3	462	c.113_splice	c.e3-2	p.G38_splice	CNOT6_uc010jld.2_Splice_Site_p.G38_splice|CNOT6_uc010jle.2_Splice_Site_p.G38_splice	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding				0	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTCTCTTACAGGAAAAGTAA	0.343			NA											105	170					0	0	0.01441	0	0
OR2Y1	134083	broad.mit.edu	37	5	180167004	180167004	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:180167004C>G	uc003mmf.1	-	1	55	c.55G>C	c.(55-57)GAT>CAT	p.D19H		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCGGCCAATCTGAGAATCCC	0.458			NA											6	104					0	0	0.004482	0	0
NUP153	9972	broad.mit.edu	37	6	17624952	17624952	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:17624952G>A	uc003ncd.1	-	20	4214	c.4014C>T	c.(4012-4014)CCC>CCT	p.P1338P	NUP153_uc011dje.1_Silent_p.P1369P|NUP153_uc010jpl.1_Silent_p.P1296P	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1338					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CAAAGCCTGGGGGATTGGGCT	0.522			NA											40	80					0	0	0.006999	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26156797	26156797	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:26156797C>A	uc003ngq.2	+	1	239	c.179C>A	c.(178-180)GCC>GAC	p.A60D	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	60	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						GTATCTTTGGCCGCTCTCAAG	0.617			NA											11	45					1.08611e-07	1.32635e-07	0.010729	1	0
BTN1A1	696	broad.mit.edu	37	6	26509306	26509306	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:26509306C>A	uc003nif.3	+	7	1505	c.1485C>A	c.(1483-1485)ATC>ATA	p.I495I		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1 precursor	495	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	receptor activity			ovary(1)|skin(1)	2						CTAAGGAGATCCCATTGTCCC	0.542			NA											21	155					3.5997e-14	5.07404e-14	0.014323	1	0
CCHCR1	54535	broad.mit.edu	37	6	31113225	31113225	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:31113225C>A	uc003nsr.3	-	12	1595	c.1472G>T	c.(1471-1473)AGC>ATC	p.S491I	CCHCR1_uc011dne.1_Missense_Mutation_p.S491I|CCHCR1_uc003nsq.3_Missense_Mutation_p.S544I|CCHCR1_uc003nsp.3_Missense_Mutation_p.S580I|CCHCR1_uc010jsk.1_Missense_Mutation_p.S491I	NM_019052	NP_061925	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1 isoform	491					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			skin(1)	1						CAAACTTCACCTCTCCTGGCG	0.552			NA											18	53					0.00278032	0.00292375	0.016522	1	0
LSM2	57819	broad.mit.edu	37	6	31765615	31765615	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:31765615G>A	uc003nxg.2	-	5	416	c.207C>T	c.(205-207)TAC>TAT	p.Y69Y	VARS_uc003nxe.2_5'Flank|VARS_uc011doi.1_5'Flank	NM_021177	NP_067000	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated	69					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding				0						GCAGCTGCACGTATCGGACCA	0.502			NA											34	321					0	0	0.015359	0	0
IP6K3	117283	broad.mit.edu	37	6	33696019	33696019	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:33696019G>C	uc010jvf.2	-	4	794	c.258C>G	c.(256-258)AAC>AAG	p.N86K	IP6K3_uc003ofb.2_Missense_Mutation_p.N86K	NM_001142883	NP_001136355	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	86					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity				0						CCTTCACTGGGTTGGCAACCA	0.612			NA											13	36					0	0	0.012319	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222605	44222605	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:44222605G>A	uc003oxd.2	-	4	1273	c.1137C>T	c.(1135-1137)ATC>ATT	p.I379I	SLC35B2_uc011dvt.1_Silent_p.I282I|SLC35B2_uc011dvu.1_Silent_p.I246I	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	solute carrier family 35, member B2	379					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			ovary(1)|central_nervous_system(1)	2	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGAAAGAAGGATGGCAAAGG	0.592			NA											5	57					0	0	0.014758	0	0
IL17A	3605	broad.mit.edu	37	6	52052599	52052599	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:52052599C>T	uc003pak.1	+	2	271	c.226C>T	c.(226-228)CTC>TTC	p.L76F		NM_002190	NP_002181	Q16552	IL17_HUMAN	interleukin 17A precursor	76					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity				0	Lung NSC(77;0.116)					ACCTTGGAATCTCCAGTACGT	0.418			NA											24	108					0	0	0.016522	0	0
MDN1	23195	broad.mit.edu	37	6	90504317	90504317	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:90504317C>A	uc003pnn.1	-	3	649	c.533G>T	c.(532-534)AGC>ATC	p.S178I	MDN1_uc003pnp.1_Missense_Mutation_p.S178I	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	178					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGTGTCATGGCTTCTGAGGAG	0.547			NA											35	46					1.69901e-12	2.28547e-12	0.005524	1	0
EPHA7	2045	broad.mit.edu	37	6	93967241	93967241	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:93967241C>A	uc003poe.2	-	12	2352	c.2111G>T	c.(2110-2112)GGG>GTG	p.G704V	EPHA7_uc003pof.2_Missense_Mutation_p.G699V|EPHA7_uc011eac.1_Missense_Mutation_p.G700V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	ephrin receptor EphA7 precursor	704	Cytoplasmic (Potential).|Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GACTGGTTTCCCTAAAATTAA	0.368			NA											10	16					3.86212e-05	4.3184e-05	0.008291	1	0
TAAR2	9287	broad.mit.edu	37	6	132938904	132938904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:132938904G>T	uc003qdl.1	-	2	441	c.441C>A	c.(439-441)TAC>TAA	p.Y147*	TAAR2_uc010kfr.1_Nonsense_Mutation_p.Y102*	NM_001033080	NP_001028252	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2 isoform 1	147	Cytoplasmic (Potential).					plasma membrane	G-protein coupled receptor activity			ovary(1)	1	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AAAGTAATGGGTAACATATAG	0.368			NA											26	58					9.39395e-14	1.31021e-13	0.00632	1	0
FNDC1	84624	broad.mit.edu	37	6	159646637	159646637	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:159646637C>T	uc010kjv.2	+	8	1155	c.955C>T	c.(955-957)CGT>TGT	p.R319C	FNDC1_uc010kjw.1_Missense_Mutation_p.R267C	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	319	Fibronectin type-III 3.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		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)		CGCTAACAGGCGTGTGCTGAT	0.468			NA											17	244					0	0	0.004007	0	0
INTS1	26173	broad.mit.edu	37	7	1535817	1535817	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:1535817G>A	uc003skn.2	-	12	1787	c.1686C>T	c.(1684-1686)ATC>ATT	p.I562I	INTS1_uc003skp.1_5'Flank	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	562					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGTCCCAGGCGATGCCGGCCT	0.657			NA											11	105					0	0	0.004007	0	0
ITGB8	3696	broad.mit.edu	37	7	20449248	20449248	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:20449248C>A	uc003suu.2	+	13	2739	c.2034C>A	c.(2032-2034)TCC>TCA	p.S678S	ITGB8_uc011jyh.1_Silent_p.S543S	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	678	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3						AATGTTTCTCCAGCCCAAGCT	0.303			NA											34	131					2.48696e-23	3.85406e-23	0.015359	1	0
STK31	56164	broad.mit.edu	37	7	23809344	23809344	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:23809344G>T	uc003sws.3	+	13	1749	c.1682G>T	c.(1681-1683)AGT>ATT	p.S561I	STK31_uc003swt.3_Missense_Mutation_p.S538I|STK31_uc011jze.1_Missense_Mutation_p.S561I|STK31_uc010kuq.2_Missense_Mutation_p.S538I	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	561							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9						ACTGAGTCAAGTGTCTGCAAA	0.383			NA											128	306					6.21504e-60	1.1204e-59	0.01441	1	0
CACNA2D1	781	broad.mit.edu	37	7	81641517	81641517	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:81641517C>T	uc003uhr.1	-	15	1571	c.1315G>A	c.(1315-1317)GAC>AAC	p.D439N	uc003uhs.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	439	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTAGCTTTGTCTCCTGCTAAA	0.378			NA											30	89					0	0	0.010818	0	0
PCLO	27445	broad.mit.edu	37	7	82579564	82579564	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:82579564G>A	uc003uhx.2	-	6	10629	c.10340C>T	c.(10339-10341)ACG>ATG	p.T3447M	PCLO_uc003uhv.2_Missense_Mutation_p.T3447M|PCLO_uc010lec.2_Missense_Mutation_p.T412M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3378					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						TTCGTCATCCGTTTGTACACC	0.433			NA											24	89					0	0	0.004656	0	0
MUC17	140453	broad.mit.edu	37	7	100675218	100675218	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:100675218C>T	uc003uxp.1	+	3	574	c.521C>T	c.(520-522)GCC>GTC	p.A174V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	174	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTTTGAGGCCTACACATCT	0.468			NA											24	319					0	0	0.016522	0	0
EPHB6	2051	broad.mit.edu	37	7	142562293	142562293	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:142562293G>T	uc011kst.1	+	7	1522	c.735G>T	c.(733-735)ACG>ACT	p.T245T	EPHB6_uc011ksu.1_Silent_p.T245T|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	245	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					TTCCAGAGACGCAGGCCAGTG	0.672			NA											60	101					1.3515e-34	2.28119e-34	0.01441	1	0
TAS2R60	338398	broad.mit.edu	37	7	143140889	143140889	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:143140889G>T	uc011ktg.1	+	1	344	c.344G>T	c.(343-345)AGT>ATT	p.S115I	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	115	Cytoplasmic (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					ACCTGGCTCAGTGTCTTCTAT	0.498			NA											53	311					2.17126e-26	3.44541e-26	0.01441	1	0
CUL1	8454	broad.mit.edu	37	7	148463701	148463701	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:148463701C>T	uc010lpg.2	+	8	1364	c.838C>T	c.(838-840)CAT>TAT	p.H280Y	CUL1_uc003wey.2_Missense_Mutation_p.H280Y|CUL1_uc003wez.2_Missense_Mutation_p.H170Y	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	280					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGTTTACCTTCATGAAAGCAC	0.373			NA											10	108					0	0	0.006214	0	0
PRKAG2	51422	broad.mit.edu	37	7	151478496	151478496	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:151478496C>A	uc003wkk.2	-	3	819	c.208G>T	c.(208-210)GGC>TGC	p.G70C	PRKAG2_uc003wkj.2_Missense_Mutation_p.G26C|PRKAG2_uc010lqe.1_RNA|PRKAG2_uc003wkm.1_Missense_Mutation_p.G70C	NM_016203	NP_057287	Q9UGJ0	AAKG2_HUMAN	AMP-activated protein kinase gamma2 subunit	70					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(1)|kidney(1)	2	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)		GAGGGGCTGCCCGGGCCGAAG	0.627			NA											7	14					0.000274275	0.000294263	0.004482	1	0
DEFA6	1671	broad.mit.edu	37	8	6782358	6782358	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:6782358G>T	uc003wqt.2	-	2	326	c.285C>A	c.(283-285)CAC>CAA	p.H95Q		NM_001926	NP_001917	Q01524	DEF6_HUMAN	defensin, alpha 6 preproprotein	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AGCAGAATCTGTGGTTAATAC	0.433			NA											7	50					0.00307968	0.00322575	0.00308	1	0
SNTG1	54212	broad.mit.edu	37	8	51314846	51314846	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:51314846T>A	uc010lxy.1	+	5	475	c.104T>A	c.(103-105)ATT>AAT	p.I35N	SNTG1_uc003xqs.1_Missense_Mutation_p.I35N|SNTG1_uc010lxz.1_Missense_Mutation_p.I35N|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	35					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		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)				GCCAAAGACATTTTGATGATC	0.383			NA											38	196					0	0	0.006999	0	0
PXDNL	137902	broad.mit.edu	37	8	52384748	52384748	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:52384748T>A	uc003xqu.3	-	8	912	c.811A>T	c.(811-813)AAC>TAC	p.N271Y		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	271	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTATTTACTTGTTGTGTATC	0.413			NA											53	71					0	0	0.01441	0	0
PRDM14	63978	broad.mit.edu	37	8	70964340	70964340	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:70964340G>T	uc003xym.2	-	8	1890	c.1688C>A	c.(1687-1689)TCC>TAC	p.S563Y		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	PR domain containing 14	563	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTTCATGTGGGAGTAGAATGT	0.323	NSCLC(129;99 1813 5906 40656 46114)		NA											14	73					3.27435e-08	4.05469e-08	0.00245	1	0
ZFHX4	79776	broad.mit.edu	37	8	77764127	77764127	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:77764127C>A	uc003yav.2	+	10	5222	c.4835C>A	c.(4834-4836)GCT>GAT	p.A1612D	ZFHX4_uc003yau.1_Missense_Mutation_p.A1657D|ZFHX4_uc003yaw.1_Missense_Mutation_p.A1612D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1612						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTTTAGCAGCTGTAAACAGC	0.468			NA								HNSCC(33;0.089)			20	95					7.41877e-09	9.27347e-09	0.012319	1	0
RUNX1T1	862	broad.mit.edu	37	8	92972678	92972678	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:92972678C>A	uc003yfd.2	-	11	1691	c.1607G>T	c.(1606-1608)GGC>GTC	p.G536V	RUNX1T1_uc003yfc.1_Missense_Mutation_p.G509V|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G499V|RUNX1T1_uc010mao.2_Missense_Mutation_p.G509V|RUNX1T1_uc011lgi.1_Missense_Mutation_p.G547V|uc010mam.2_5'Flank|RUNX1T1_uc010man.1_Missense_Mutation_p.G161V|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G499V	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	536	MYND-type.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCAAAATGAGCCACAGTATCG	0.537			NA											8	42					1.12685e-05	1.28714e-05	0.004482	1	0
ZFPM2	23414	broad.mit.edu	37	8	106810978	106810978	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:106810978G>T	uc003ymd.2	+	7	789	c.766G>T	c.(766-768)GGC>TGC	p.G256C	ZFPM2_uc011lhs.1_5'UTR|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	256	C2HC-type 1.				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			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAAGTCCTGTGGCATCTGGTA	0.473			NA											23	37					5.35356e-11	7.02323e-11	0.016522	1	0
CSMD3	114788	broad.mit.edu	37	8	114111054	114111054	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:114111054A>C	uc003ynu.2	-	5	1007	c.848T>G	c.(847-849)TTT>TGT	p.F283C	CSMD3_uc003ynt.2_Missense_Mutation_p.F243C|CSMD3_uc011lhx.1_Missense_Mutation_p.F283C|CSMD3_uc010mcx.1_Missense_Mutation_p.F283C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	283	Extracellular (Potential).|CUB 2.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						AAAATCAGTAAATATGAGTGA	0.378			NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	92					0	0	0.001984	0	0
FAM91A1	157769	broad.mit.edu	37	8	124810464	124810464	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:124810464A>T	uc003yqv.2	+	16	1607	c.1546A>T	c.(1546-1548)AGC>TGC	p.S516C	FAM91A1_uc011lik.1_Missense_Mutation_p.S516C|FAM91A1_uc011lil.1_Missense_Mutation_p.S274C	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	hypothetical protein LOC157769	516										ovary(1)|central_nervous_system(1)	2	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GCCTGTCAGCAGCTGCACCCC	0.463			NA											21	106					0	0	0.012319	0	0
FAM135B	51059	broad.mit.edu	37	8	139380184	139380184	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:139380184G>T	uc003yuy.2	-	2	214	c.43C>A	c.(43-45)CAT>AAT	p.H15N	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	15										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAAAATTTATGTAGCTCTACC	0.299			NA								HNSCC(54;0.14)			86	160					2.48941e-46	4.45739e-46	0.01441	1	0
PLEC	5339	broad.mit.edu	37	8	144993918	144993918	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:144993918G>A	uc003zaf.1	-	32	10652	c.10482C>T	c.(10480-10482)CTC>CTT	p.L3494L	PLEC_uc003zab.1_Silent_p.L3357L|PLEC_uc003zac.1_Silent_p.L3361L|PLEC_uc003zad.2_Silent_p.L3357L|PLEC_uc003zae.1_Silent_p.L3325L|PLEC_uc003zag.1_Silent_p.L3335L|PLEC_uc003zah.2_Silent_p.L3343L|PLEC_uc003zaj.2_Silent_p.L3384L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3494	Plectin 12.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGATGCCGGCGAGGCAGCCAC	0.657			NA											16	23					0	0	0.006122	0	0
IFNA8	3445	broad.mit.edu	37	9	21409376	21409376	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:21409376T>C	uc003zpc.1	+	1	231	c.201T>C	c.(199-201)GAT>GAC	p.D67D		NM_002170	NP_002161	P32881	IFNA8_HUMAN	interferon, alpha 8 precursor	67					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding				0				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AGGAGTTTGATGATAAACAGT	0.493			NA											40	84					0	0	0.007835	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971140	21971140	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:21971140G>T	uc003zpk.2	-	2	430	c.218C>A	c.(217-219)GCC>GAC	p.A73D	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Silent_p.R128R	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	73					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.A73G(1)|p.A73A(1)|p.L65fs*38(1)|p.A73T(1)|p.V59fs*45(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.A73P(1)|p.A73S(1)|p.C72fs*71(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		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)		GGCGGGGTCGGCGCAGTTGGG	0.711			17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	8					3.59834e-05	4.0577e-05	0.001168	1	0
ALDH1B1	219	broad.mit.edu	37	9	38395944	38395945	+	Missense_Mutation	DNP	CA	CA	TT			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:38395944_38395945CA>TT	uc004aay.2	+	2	311_312	c.199_200CA>TT	c.(199-201)CAC>TTC	p.H67F		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	67					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGTCATTGGGCACGTGGCTGAA	0.609			NA											21	96					0	0	0.004672	0	0
TRPM6	140803	broad.mit.edu	37	9	77377632	77377632	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:77377632T>A	uc004ajl.1	-	26	4193	c.3955A>T	c.(3955-3957)AGG>TGG	p.R1319W	TRPM6_uc004ajk.1_Missense_Mutation_p.R1314W|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R275W	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1319	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						GTTTCTTGCCTTTCCTGGTCA	0.478			NA											26	211					0	0	0.004656	0	0
PRUNE2	158471	broad.mit.edu	37	9	79461573	79461573	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:79461573T>C	uc010mpk.2	-	4	490	c.366A>G	c.(364-366)TCA>TCG	p.S122S	PRUNE2_uc004akn.2_Silent_p.S122S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	122					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TGACAACTGCTGATTCTAAAG	0.428			NA											7	72					0	0	0.00308	0	0
PRUNE2	158471	broad.mit.edu	37	9	79461594	79461594	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:79461594A>G	uc010mpk.2	-	4	469	c.345T>C	c.(343-345)AGT>AGC	p.S115S	PRUNE2_uc004akn.2_Silent_p.S115S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	115					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TTTTGTCTTCACTGTAAAGCA	0.433			NA											5	72					0	0	0.00308	0	0
FGD3	89846	broad.mit.edu	37	9	95773546	95773546	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:95773546C>T	uc004asw.2	+	8	1655	c.1027C>T	c.(1027-1029)CGG>TGG	p.R343W	FGD3_uc004asx.2_Missense_Mutation_p.R343W|FGD3_uc004asz.2_Missense_Mutation_p.R343W|FGD3_uc004ata.2_Missense_Mutation_p.R146W	NM_001083536	NP_001077005	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	343					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(1)|breast(1)	2						TGCTGCCATTCGGAAAGTGGT	0.627			NA											16	38					0	0	0.014323	0	0
SVEP1	79987	broad.mit.edu	37	9	113194879	113194879	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:113194879C>A	uc010mtz.2	-	31	5433	c.5096G>T	c.(5095-5097)GGC>GTC	p.G1699V		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	1699	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7						TGAATGGAAGCCATTCTCCAA	0.453			NA											31	76					1.13719e-10	1.47723e-10	0.008361	1	0
ARSF	416	broad.mit.edu	37	X	3028249	3028249	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:3028249G>T	uc004cre.1	+	10	1567	c.1346G>T	c.(1345-1347)TGT>TTT	p.C449F	ARSF_uc004crf.1_Missense_Mutation_p.C449F	NM_004042	NP_004033	P54793	ARSF_HUMAN	arylsulfatase F precursor	449						extracellular region	arylsulfatase activity|metal ion binding			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCACTACTGTGGCTCCTAC	0.592			NA											21	16					2.37509e-13	3.27812e-13	0.010504	1	0
MAP7D2	256714	broad.mit.edu	37	X	20034374	20034374	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:20034374C>A	uc004czr.1	-	10	1378	c.1359G>T	c.(1357-1359)AAG>AAT	p.K453N	MAP7D2_uc004czq.1_Missense_Mutation_p.K338N|MAP7D2_uc011mji.1_Missense_Mutation_p.K401N|MAP7D2_uc010nfo.1_Missense_Mutation_p.K494N|MAP7D2_uc011mjj.1_Missense_Mutation_p.K408N	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	453										ovary(2)|breast(1)	3						cttcttcctgctttcgggctt	0.06			NA											7	15					3.09899e-07	3.69924e-07	0.004482	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973557	29973557	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:29973557C>A	uc004dby.2	+	11	2219	c.1711C>A	c.(1711-1713)CAG>AAG	p.Q571K		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	571	Cytoplasmic (Potential).|Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5						TACACATGAGCAGGCTTTAGA	0.493			NA											24	20					7.92952e-12	1.05066e-11	0.003954	1	0
FAM47B	170062	broad.mit.edu	37	X	34961522	34961522	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:34961522C>G	uc004ddi.1	+	1	592	c.574C>G	c.(574-576)CCC>GCC	p.P192A		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	192	Pro-rich.									ovary(3)|breast(1)	4						CCCGCGGCCTCCCGAGACTCC	0.657			NA											9	14					0	0	0.008291	0	0
CYBB	1536	broad.mit.edu	37	X	37663315	37663315	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:37663315G>T	uc004ddr.2	+	9	1144	c.1083G>T	c.(1081-1083)TGG>TGT	p.W361C	CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.W329C|CYBB_uc011mkg.1_Missense_Mutation_p.W94C	NM_000397	NP_000388	P04839	CY24B_HUMAN	cytochrome b-245 beta polypeptide	361	Cytoplasmic (Potential).|FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|skin(1)	2						TTGGGGACTGGACAGAGGGGC	0.473			NA											18	40					2.44723e-14	3.48665e-14	0.004656	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134201	91134201	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:91134201C>A	uc004efk.1	+	2	3807	c.2962C>A	c.(2962-2964)CCC>ACC	p.P988T	PCDH11X_uc004efl.1_Missense_Mutation_p.P988T|PCDH11X_uc004efo.1_Missense_Mutation_p.P988T|PCDH11X_uc010nmv.1_Missense_Mutation_p.P988T|PCDH11X_uc004efm.1_Missense_Mutation_p.P988T|PCDH11X_uc004efn.1_Missense_Mutation_p.P988T|PCDH11X_uc004efh.1_Missense_Mutation_p.P988T|PCDH11X_uc004efj.1_Missense_Mutation_p.P988T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	988	Cytoplasmic (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CAGTTCAGATCCCTACAGCGT	0.493	NSCLC(38;925 1092 2571 38200 45895)		NA											67	58					1.43987e-31	2.38478e-31	0.01441	1	0
NXF5	55998	broad.mit.edu	37	X	101095868	101095868	+	Splice_Site	SNP	C	C	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:101095868C>A	uc011mrk.1	-	9	841	c.481_splice	c.e9-1	p.L161_splice	NXF5_uc004eih.1_Splice_Site|NXF5_uc004eii.1_Intron|NXF5_uc004eij.1_Splice_Site|NXF5_uc004eik.1_Splice_Site|NXF5_uc004eil.1_Splice_Site	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						AAGACAACAGCTTTGGGTCAA	0.483			NA											6	30					0.000157383	0.000170231	0.00308	1	0
GPR112	139378	broad.mit.edu	37	X	135482182	135482182	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:135482182G>T	uc004ezu.1	+	21	8773	c.8482G>T	c.(8482-8484)GGC>TGC	p.G2828C	GPR112_uc010nsb.1_Missense_Mutation_p.G2623C	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2828	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					TACTTGGATGGGCCTGGAGGC	0.388			NA											69	70					1.05635e-38	1.84166e-38	0.01441	1	0
HTATSF1	27336	broad.mit.edu	37	X	135593999	135593999	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:135593999G>T	uc004ezw.2	+	10	2517	c.2095G>T	c.(2095-2097)GAT>TAT	p.D699Y	HTATSF1_uc004ezx.2_Missense_Mutation_p.D699Y	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	699	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)					GTTGTTCGAAGATGATGATTC	0.428			NA											62	48					1.61742e-36	2.78321e-36	0.01441	1	0
AFF2	2334	broad.mit.edu	37	X	148048526	148048526	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:148048526G>A	uc004fcp.2	+	14	3599	c.3120G>A	c.(3118-3120)CTG>CTA	p.L1040L	AFF2_uc004fcq.2_Silent_p.L1030L|AFF2_uc004fcr.2_Silent_p.L1001L|AFF2_uc011mxb.1_Silent_p.L1005L|AFF2_uc004fcs.2_Silent_p.L1005L|AFF2_uc011mxc.1_Silent_p.L681L	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	1040					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTCACCTGGAGATGACGT	0.333			NA											16	198					0	0	0.006122	0	0
VBP1	7411	broad.mit.edu	37	X	154464554	154464554	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:154464554G>A	uc004fnc.2	+	5	488	c.429G>A	c.(427-429)TTG>TTA	p.L143L	VBP1_uc004fnd.2_Silent_p.L106L	NM_003372	NP_003363	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	143					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCAGGCATTGTTGGAAAAGA	0.368			NA											26	96					0	0	0.00632	0	0
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:44489938delT	uc001cln.2	-	2	254	c.12delA	c.(10-12)AAAfs	p.K4fs	SLC6A9_uc010okm.1_Frame_Shift_Del_p.K4fs|SLC6A9_uc010oko.1_5'UTR|SLC6A9_uc010okp.1_RNA	NM_001024845	NP_001020016	P48067	SC6A9_HUMAN	solute carrier family 6 member 9 isoform 3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity				0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627			NA											7	577	---	---	---	---	NA	NA	NA	NA	NA
OR52R1	119695	broad.mit.edu	37	11	4824745	4824746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:4824745_4824746insT	uc010qym.1	-	1	1102_1103	c.1102_1103insA	c.(1102-1104)ATGfs	p.M368fs		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	289	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGTTGAGCATGGGAGGTATC	0.475			NA											37	198	---	---	---	---	NA	NA	NA	NA	NA
MYCBPAP	84073	broad.mit.edu	37	17	48604672	48604673	+	Frame_Shift_Ins	INS	-	-	ACCACAG			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:48604672_48604673insACCACAG	uc010wmr.1	+	15	2485_2486	c.2323_2324insACCACAG	c.(2323-2325)AACfs	p.N775fs	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	738					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCCTGATGAGAACCACAGAGAG	0.574			NA											27	140	---	---	---	---	NA	NA	NA	NA	NA
DNAJC10	54431	broad.mit.edu	37	2	183597269	183597269	+	Frame_Shift_Del	DEL	G	G	-			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:183597269delG	uc002uow.1	+	10	1264	c.849delG	c.(847-849)TTGfs	p.L283fs	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Frame_Shift_Del_p.L283fs|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	283					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTGGCATGTTGGTAAGCATCA	0.328	Pancreas(56;860 1183 25669 35822 48585)		NA											45	134	---	---	---	---	NA	NA	NA	NA	NA
TMEM175	84286	broad.mit.edu	37	4	944247	944261	+	In_Frame_Del	DEL	GATTGCCGTCTACCT	GATTGCCGTCTACCT	-	rs142778595	byFrequency	TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	GATTGCCGTCTACCT	GATTGCCGTCTACCT	-	-	GATTGCCGTCTACCT	GATTGCCGTCTACCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:944247_944261delGATTGCCGTCTACCT	uc003gbq.2	+	4	329_343	c.231_245delGATTGCCGTCTACCT	c.(229-246)CGGATTGCCGTCTACCTG>CGG	p.IAVYL78del	TMEM175_uc010ibl.1_In_Frame_Del_p.IAVYL78del|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbr.2_5'UTR|TMEM175_uc003gbu.2_5'UTR|TMEM175_uc003gbs.2_5'UTR|TMEM175_uc003gbt.2_5'UTR|TMEM175_uc003gbv.2_5'UTR|TMEM175_uc010ibm.2_5'Flank	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	transmembrane protein 175	78_82	Helical; (Potential).					integral to membrane					0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGCAACACGGATTGCCGTCTACCTGATGACCTTT	0.581			NA											16	76	---	---	---	---	NA	NA	NA	NA	NA
CXXC4	80319	broad.mit.edu	37	4	105412047	105412049	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:105412047_105412049delTCT	uc003hxg.2	-	1	419_421	c.404_406delAGA	c.(403-408)AAGAGG>AGG	p.K135del	uc003hxh.1_5'Flank|CXXC4_uc010ilo.2_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	CXXC finger 4	135	CXXC-type.				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CACCTTTTCCTCTTCTTCTTGGC	0.571			NA											12	94	---	---	---	---	NA	NA	NA	NA	NA
TLN1	7094	broad.mit.edu	37	9	35707111	35707112	+	Frame_Shift_Ins	INS	-	-	G			TCGA-49-4505-01A-01D-1265-08	TCGA-49-4505-11A-01D-1265-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	e773a2fe-1d80-492d-bba8-105036a14a92	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:35707111_35707112insG	uc003zxt.2	-	37	5266_5267	c.4912_4913insC	c.(4912-4914)CGTfs	p.R1638fs		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1638	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGACAGTACGGGAGTGGCCG	0.599			NA											16	224	---	---	---	---	NA	NA	NA	NA	NA
