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
NADK	65220	broad.mit.edu	37	1	1685646	1685646	+	Silent	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:1685646T>G	uc009vkw.2	-	10	1066	c.945A>C	c.(943-945)GGA>GGC	p.G315G	NADK_uc001aic.2_Silent_p.G315G|NADK_uc001aid.3_Silent_p.G315G|NADK_uc001aie.2_Silent_p.G460G|NADK_uc010nyv.1_Silent_p.G283G|NADK_uc009vkx.1_3'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	NAD kinase	315					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		ACACGATCACTCCTGACAGGG	0.697			NA											5	40					0	0	0.000602	0	0
TMEM57	55219	broad.mit.edu	37	1	25824898	25824898	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:25824898G>A	uc001bkk.2	+	11	2138	c.1936G>A	c.(1936-1938)GAG>AAG	p.E646K	TMEM57_uc009vru.2_Missense_Mutation_p.E419K|TMEM57_uc009vrv.2_Missense_Mutation_p.E288K	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	646						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CAAATTTGTGGAGACCAGCCC	0.542			NA											23	110					0	0	0.003954	0	0
ZNF683	257101	broad.mit.edu	37	1	26691246	26691246	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:26691246C>A	uc001bmg.1	-	4	909	c.791G>T	c.(790-792)GGC>GTC	p.G264V	ZNF683_uc001bmh.1_Missense_Mutation_p.G264V|ZNF683_uc009vsj.1_Missense_Mutation_p.G264V	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CAGAGCTTGGCCAGAGGCTTG	0.647			NA											11	42					9.70103e-10	1.17333e-09	0.008291	1	0
TMEM222	84065	broad.mit.edu	37	1	27657260	27657260	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:27657260G>C	uc001bnr.3	+	2	297	c.244G>C	c.(244-246)GTC>CTC	p.V82L	TMEM222_uc001bns.3_RNA|TMEM222_uc001bnt.3_RNA|TMEM222_uc001bnu.3_Intron	NM_032125	NP_115501	Q9H0R3	TM222_HUMAN	transmembrane protein 222	82	Cytoplasmic (Potential).					integral to membrane	protein binding				0						ATCCACAGGAGTCATTCGGGA	0.572			NA											3	142					0	0	0.009096	0	0
MANEAL	149175	broad.mit.edu	37	1	38265344	38265344	+	Silent	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:38265344C>G	uc001cby.2	+	4	924	c.843C>G	c.(841-843)GCC>GCG	p.A281A	MANEAL_uc001cbx.2_Intron|MANEAL_uc001cbz.2_Silent_p.A59A	NM_001113482	NP_001106954	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like isoform 3	281	Lumenal (Potential).					Golgi membrane|integral to membrane	hydrolase activity				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGCCTGGGCCCACCTCCTGA	0.577			NA											22	83					0	0	0.010504	0	0
TMEM61	199964	broad.mit.edu	37	1	55457596	55457596	+	Silent	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:55457596T>A	uc001cyd.2	+	3	727	c.453T>A	c.(451-453)CCT>CCA	p.P151P		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	151						integral to membrane					0						CTGCATACCCTACGGAGGAAG	0.627			NA											32	51					0	0	0.009535	0	0
SGIP1	84251	broad.mit.edu	37	1	67155945	67155945	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:67155945A>C	uc001dcr.2	+	17	1733	c.1516A>C	c.(1516-1518)ACT>CCT	p.T506P	SGIP1_uc010opd.1_Missense_Mutation_p.T106P|SGIP1_uc001dcs.2_Missense_Mutation_p.T106P|SGIP1_uc001dct.2_Missense_Mutation_p.T106P|SGIP1_uc009wat.2_Missense_Mutation_p.T300P	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	506					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						GGCTGAAAGCACTTCTTCAAT	0.468			NA											57	87					0	0	0.01441	0	0
DEPDC1	55635	broad.mit.edu	37	1	68944887	68944887	+	Silent	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:68944887T>C	uc001dem.3	-	10	2169	c.2052A>G	c.(2050-2052)CAA>CAG	p.Q684Q	DEPDC1_uc001dej.3_Silent_p.Q52Q|DEPDC1_uc001dek.3_RNA|DEPDC1_uc001del.3_Silent_p.Q400Q	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	684					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAGGGTACTTGAAGAATTT	0.363			NA											11	33					0	0	0.008291	0	0
COL11A1	1301	broad.mit.edu	37	1	103455108	103455108	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:103455108C>A	uc001dul.2	-	29	2678	c.2360G>T	c.(2359-2361)GGA>GTA	p.G787V	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G799V|COL11A1_uc001dun.2_Missense_Mutation_p.G748V|COL11A1_uc009weh.2_Missense_Mutation_p.G671V	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	787	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACCTTTGAATCCTGGAAAACC	0.289			NA											12	22					2.62699e-14	3.43529e-14	0.003163	1	0
COL11A1	1301	broad.mit.edu	37	1	103481288	103481288	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:103481288C>G	uc001dul.2	-	12	1742	c.1424G>C	c.(1423-1425)GGA>GCA	p.G475A	COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G487A|COL11A1_uc001dun.2_Missense_Mutation_p.G436A|COL11A1_uc009weh.2_Missense_Mutation_p.G359A	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	475	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGGACGTCCTGGGGGGCC	0.343			NA											10	11					0	0	0.006214	0	0
SEC22B	9554	broad.mit.edu	37	1	145112502	145112502	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:145112502G>T	uc001eml.1	+	6	616	c.476G>T	c.(475-477)CGA>CTA	p.R159L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	NM_004892	NP_004883	O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B	159	v-SNARE coiled-coil homology.|Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding				0						GTGTTACAACGAGGAGAAGCA	0.413			NA											8	105					1.58986e-06	1.7952e-06	0.008291	1	0
FAM63A	55793	broad.mit.edu	37	1	150974794	150974794	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:150974794A>G	uc001ewf.2	-	3	1984	c.300T>C	c.(298-300)CTT>CTC	p.L100L	FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Silent_p.L5L|FAM63A_uc001ewd.2_5'UTR|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Silent_p.L148L|FAM63A_uc001ewg.2_Silent_p.L100L	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	hypothetical protein LOC55793 isoform 1	100							protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGACTGAGGAAGCTCCTGGG	0.572			NA											3	114					0	0	0.004672	0	0
SPRR4	163778	broad.mit.edu	37	1	152944388	152944388	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:152944388C>T	uc001fav.1	+	2	85	c.22C>T	c.(22-24)CGG>TGG	p.R8W		NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	8	Gln-rich.				keratinization|peptide cross-linking	cell cortex					0	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagcagcagcggcagcagca	0.458			NA											37	102					0	0	0.003755	0	0
HAX1	10456	broad.mit.edu	37	1	154247719	154247719	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:154247719A>G	uc001fes.2	+	5	807	c.646A>G	c.(646-648)ATC>GTC	p.I216V	HAX1_uc001fet.2_Missense_Mutation_p.I168V|HAX1_uc010peo.1_Missense_Mutation_p.I224V|HAX1_uc009wou.2_Missense_Mutation_p.I141V|HAX1_uc009wov.2_Missense_Mutation_p.I190V	NM_006118	NP_006109	O00165	HAX1_HUMAN	HCLS1 associated protein X-1 isoform a	216	Involved in PLN binding.|Involved in GNA13 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).|Involved in ATP2A2 binding.|Involved in HCLS1 binding.					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding				0	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGTGACCAAGATCACTAAACC	0.488			NA							Kostmann_syndrome				25	60					0	0	0.00278	0	0
PMVK	10654	broad.mit.edu	37	1	154897618	154897618	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:154897618C>T	uc001ffq.2	-	5	889	c.566G>A	c.(565-567)CGC>CAC	p.R189H		NM_006556	NP_006547	Q15126	PMVK_HUMAN	phosphomevalonate kinase	189					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding				0	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGTCTGGAGCGGATAAATTC	0.572			NA											48	119					0	0	0.01441	0	0
OR10K1	391109	broad.mit.edu	37	1	158436005	158436005	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:158436005C>T	uc010pij.1	+	1	654	c.654C>T	c.(652-654)TAC>TAT	p.Y218Y		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	218	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TAGTCTCCTACATCCGCATCA	0.468			NA											27	99					0	0	0.003954	0	0
ILDR2	387597	broad.mit.edu	37	1	166927096	166927096	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:166927096T>A	uc001gdx.1	-	2	345	c.289A>T	c.(289-291)AGG>TGG	p.R97W		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	97	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(1)	1						ACAGTCCTCCTGCTGTCCAAA	0.517			NA											18	96					0	0	0.006122	0	0
KIFAP3	22920	broad.mit.edu	37	1	169951914	169951914	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:169951914G>A	uc001ggv.2	-	14	1872	c.1601C>T	c.(1600-1602)CCA>CTA	p.P534L	KIFAP3_uc010plx.1_Missense_Mutation_p.P236L	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	534					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTCTAAGTCTGGAATGGTCAA	0.378			NA											24	66					0	0	0.00278	0	0
TNR	7143	broad.mit.edu	37	1	175365768	175365768	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:175365768C>G	uc001gkp.1	-	3	1233	c.1152G>C	c.(1150-1152)GAG>GAC	p.E384D	TNR_uc009wwu.1_Missense_Mutation_p.E384D|TNR_uc010pmz.1_Missense_Mutation_p.A350P	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	384	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)					CTGGCTCCAGCTCCGTGATGG	0.587			NA											21	37					0	0	0.008871	0	0
ASTN1	460	broad.mit.edu	37	1	176915135	176915135	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:176915135C>T	uc001glc.2	-	13	2388	c.2176G>A	c.(2176-2178)GGG>AGG	p.G726R	ASTN1_uc001glb.1_Missense_Mutation_p.G726R|ASTN1_uc001gld.1_Missense_Mutation_p.G726R|ASTN1_uc009wwx.1_Missense_Mutation_p.G726R	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	734					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						AACATCTCCCCAAAGAGGGTC	0.502			NA											36	103					0	0	0.004289	0	0
CACNA1E	777	broad.mit.edu	37	1	181735735	181735735	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:181735735C>A	uc001gow.2	+	35	5034	c.4869C>A	c.(4867-4869)ATC>ATA	p.I1623I	CACNA1E_uc009wxs.2_Silent_p.I1511I|CACNA1E_uc001gox.1_Silent_p.I849I|CACNA1E_uc009wxt.2_Silent_p.I849I	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1623	IV.|Helical; Name=S5 of repeat IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6						TTTATGCCATCATTGGGATGC	0.473			NA											9	23					0.00448238	0.00474605	0.004482	1	0
EDEM3	80267	broad.mit.edu	37	1	184672036	184672036	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:184672036G>A	uc010pok.1	-	19	2559	c.2298C>T	c.(2296-2298)TTC>TTT	p.F766F	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Silent_p.F766F	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	766	PA.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1						TGCTGAATAAGAACAGCATGG	0.468			NA											9	53					0	0	0.004482	0	0
HMCN1	83872	broad.mit.edu	37	1	186143734	186143734	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:186143734A>G	uc001grq.1	+	103	16132	c.15903A>G	c.(15901-15903)CCA>CCG	p.P5301P	HMCN1_uc001grs.1_Silent_p.P870P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	5301	EGF-like 5; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						GTGTATGCCCAAGAGGTTATC	0.423			NA											18	34					0	0	0.007413	0	0
CFHR4	10877	broad.mit.edu	37	1	196857314	196857314	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:196857314T>C	uc001gto.2	+	1	103	c.34T>C	c.(34-36)TGG>CGG	p.W12R	CFHR4_uc009wyy.2_Missense_Mutation_p.W12R|CFHR4_uc001gtp.2_Missense_Mutation_p.W12R	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	12						extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						TCTGACCTTGTGGGTTTCCTG	0.348			NA											13	51					0	0	0.00245	0	0
LAD1	3898	broad.mit.edu	37	1	201356087	201356087	+	Silent	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:201356087G>C	uc001gwm.2	-	3	637	c.402C>G	c.(400-402)TCC>TCG	p.S134S	LAD1_uc009wzu.1_Silent_p.S156S	NM_005558	NP_005549	O00515	LAD1_HUMAN	ladinin 1	134						basement membrane	structural molecule activity				0						GTTCCTTCTTGGAGACTAGGG	0.647			NA											21	65					0	0	0.014323	0	0
DSTYK	25778	broad.mit.edu	37	1	205129335	205129335	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:205129335T>C	uc001hbw.2	-	8	2076	c.2012A>G	c.(2011-2013)AAC>AGC	p.N671S	DSTYK_uc001hbx.2_Missense_Mutation_p.N671S|DSTYK_uc001hby.1_Missense_Mutation_p.N132S	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	671	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						TCCTCCCCAGTTGTCACACAG	0.498			NA											43	104					0	0	0.009718	0	0
KCNH1	3756	broad.mit.edu	37	1	211264027	211264027	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:211264027G>A	uc001hib.2	-	4	486	c.316C>T	c.(316-318)CCT>TCT	p.P106S	KCNH1_uc001hic.2_Missense_Mutation_p.P106S	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	106	PAC.|Cytoplasmic (Potential).				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)		AACCACACAGGTGTCCCTGAA	0.378			NA											7	57					0	0	0.004482	0	0
RD3	343035	broad.mit.edu	37	1	211654714	211654714	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:211654714C>A	uc001him.2	-	2	1208	c.44G>T	c.(43-45)CGG>CTG	p.R15L	RD3_uc001hin.2_RNA|RD3_uc009xda.2_Intron	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	15					response to stimulus|visual perception					ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		GGTGGACAGCCGGGATGGGGC	0.622			NA											24	66					2.79863e-10	3.42553e-10	0.004656	1	0
GALNT2	2590	broad.mit.edu	37	1	230339028	230339028	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:230339028G>A	uc010pwa.1	+	3	438	c.366G>A	c.(364-366)CGG>CGA	p.R122R	GALNT2_uc010pvy.1_Silent_p.R84R|GALNT2_uc010pvz.1_RNA	NM_004481	NP_004472	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	122	Lumenal (Potential).				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTGACACCCGGCATGACCAGT	0.537			NA											4	124					0	0	0.000602	0	0
TBCE	6905	broad.mit.edu	37	1	235599075	235599075	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:235599075C>T	uc001hwz.1	+	9	876	c.753C>T	c.(751-753)CTC>CTT	p.L251L	TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Silent_p.L251L|TBCE_uc010pxr.1_Silent_p.L302L|TBCE_uc001hxb.1_Silent_p.L138L	NM_003193	NP_003184	Q15813	TBCE_HUMAN	beta-tubulin cofactor E	251	LRR 4.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CAGATGTTCTCCAGACAGTCA	0.368			NA											36	90					0	0	0.004289	0	0
RYR2	6262	broad.mit.edu	37	1	237880604	237880604	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237880604G>T	uc001hyl.1	+	72	10550	c.10430G>T	c.(10429-10431)GGG>GTG	p.G3477V	RYR2_uc010pxz.1_Missense_Mutation_p.G432V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3477					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)			CTGCCCATTGGGTTGAACATC	0.488			NA											12	30					0.00010058	0.000109528	0.013537	1	0
RYR2	6262	broad.mit.edu	37	1	237880608	237880608	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237880608G>T	uc001hyl.1	+	72	10554	c.10434G>T	c.(10432-10434)TTG>TTT	p.L3478F	RYR2_uc010pxz.1_Missense_Mutation_p.L433F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	3478					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)			CCATTGGGTTGAACATCTGTG	0.493			NA											12	28					0.00010058	0.000109528	0.013537	1	0
RYR2	6262	broad.mit.edu	37	1	237886564	237886564	+	Splice_Site	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237886564T>A	uc001hyl.1	+	74	10809	c.10689_splice	c.e74+2	p.Q3563_splice	RYR2_uc010pxz.1_Splice_Site_p.Q518_splice	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor						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)			CTTGAACAGGTCAGGCTTTGT	0.343			NA											15	45					0	0	0.003163	0	0
RYR2	6262	broad.mit.edu	37	1	237947973	237947973	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:237947973G>T	uc001hyl.1	+	90	13081	c.12961G>T	c.(12961-12963)GGT>TGT	p.G4321C	RYR2_uc010pya.1_Missense_Mutation_p.G736C	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4321					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)			CCTCGTCGAAGGTGCTAAAAA	0.522			NA											6	74					1.26484e-09	1.51781e-09	0.00308	1	0
OR6F1	343169	broad.mit.edu	37	1	247875544	247875544	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:247875544G>C	uc001idj.1	-	1	514	c.514C>G	c.(514-516)CGT>GGT	p.R172G		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTGATGGCACGGGGGCCACAG	0.597			NA											41	74					0	0	0.010771	0	0
OR6F1	343169	broad.mit.edu	37	1	247875899	247875899	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:247875899A>T	uc001idj.1	-	1	159	c.159T>A	c.(157-159)CAT>CAA	p.H53Q		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	53	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TATGCAACTGATGGGAGGTGC	0.478			NA											41	82					0	0	0.007835	0	0
OR2L3	391192	broad.mit.edu	37	1	248224182	248224182	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:248224182C>A	uc001idx.1	+	1	199	c.199C>A	c.(199-201)CTC>ATC	p.L67I	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	67	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	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)			TCAGCTCTCCCTCATTGACCT	0.428			NA											55	419					1.22119e-34	1.77945e-34	0.01441	1	0
OR2M7	391196	broad.mit.edu	37	1	248487127	248487127	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr1:248487127C>A	uc010pzk.1	-	1	744	c.744G>T	c.(742-744)GTG>GTT	p.V248V		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	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)			AGTACATTCCCACCACCATGA	0.468			NA											59	151					2.78941e-39	4.20472e-39	0.01441	1	0
MYO3A	53904	broad.mit.edu	37	10	26446298	26446298	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:26446298C>T	uc001isn.2	+	26	3213	c.2853C>T	c.(2851-2853)TGC>TGT	p.C951C	MYO3A_uc009xko.1_Silent_p.C951C|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	myosin IIIA	951	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						TTGTCCGTTGCATCAAACCAA	0.388			NA											22	49					0	0	0.00333	0	0
ERCC6	2074	broad.mit.edu	37	10	50708677	50708677	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:50708677C>G	uc001jhs.3	-	7	1746	c.1592G>C	c.(1591-1593)GGA>GCA	p.G531A	ERCC6_uc010qgr.1_5'UTR|ERCC6_uc001jhr.3_5'UTR	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent	531	Helicase ATP-binding.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						CATTTCATCTCCCAGAATTCC	0.478			NA						Direct_reversal_of_damage|NER					21	42					0	0	0.012319	0	0
TTC18	118491	broad.mit.edu	37	10	75037043	75037043	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:75037043G>T	uc009xrc.2	-	22	2806	c.2685C>A	c.(2683-2685)ATC>ATA	p.I895I	TTC18_uc001jty.2_Silent_p.I895I|TTC18_uc001jtv.3_5'UTR|TTC18_uc001jtw.3_5'UTR|TTC18_uc001jtx.2_Silent_p.I276I	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	895							binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)					TCTCCATGAAGATGGTGGTAG	0.378			NA											33	41					1.26612e-14	1.67719e-14	0.003271	1	0
KCNMA1	3778	broad.mit.edu	37	10	78647061	78647061	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:78647061C>A	uc001jxn.2	-	28	3851	c.3674G>T	c.(3673-3675)CGG>CTG	p.R1225L	KCNMA1_uc001jxj.2_Missense_Mutation_p.R1171L|KCNMA1_uc001jxk.1_Missense_Mutation_p.R843L|KCNMA1_uc009xrt.1_Missense_Mutation_p.R1016L|KCNMA1_uc001jxl.1_Missense_Mutation_p.R850L|KCNMA1_uc001jxo.2_Missense_Mutation_p.R1208L|KCNMA1_uc001jxm.2_Missense_Mutation_p.R1167L|KCNMA1_uc001jxq.2_Missense_Mutation_p.R1197L|uc001jxp.2_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	1225	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTGTTTGTCCCGGGACTCCCT	0.547			NA											78	69					2.47556e-37	3.67729e-37	0.01441	1	0
SORBS1	10580	broad.mit.edu	37	10	97135812	97135812	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr10:97135812C>T	uc001kkp.2	-	17	1700	c.1655G>A	c.(1654-1656)AGT>AAT	p.S552N	SORBS1_uc001kkk.2_Intron|SORBS1_uc001kkl.2_Missense_Mutation_p.S154N|SORBS1_uc001kkn.2_Missense_Mutation_p.S339N|SORBS1_uc001kkm.2_Missense_Mutation_p.S408N|SORBS1_uc001kko.2_Missense_Mutation_p.S574N|SORBS1_uc001kkq.2_Missense_Mutation_p.S437N|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Missense_Mutation_p.S506N|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	552					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)		TATATCCCGACTCTATAGGGG	0.388			NA											20	25					0	0	0.008871	0	0
DCHS1	8642	broad.mit.edu	37	11	6648021	6648021	+	Silent	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:6648021T>G	uc001mem.1	-	14	6659	c.6249A>C	c.(6247-6249)CCA>CCC	p.P2083P		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	2083	Cadherin 20.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGACCCACCTGGGGGCGCAT	0.582			NA											11	17					0	0	0.008291	0	0
LYVE1	10894	broad.mit.edu	37	11	10580717	10580717	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:10580717G>T	uc001miv.2	-	6	1196	c.910C>A	c.(910-912)CCA>ACA	p.P304T	uc001miu.2_Intron|LYVE1_uc010rca.1_Missense_Mutation_p.P200T	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor	304	Cytoplasmic (Potential).				anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|skin(1)	2				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GACTCTTCTGGGTTTTTATCA	0.433			NA											43	105					1.62957e-23	2.25633e-23	0.00874	1	0
RAG1	5896	broad.mit.edu	37	11	36595915	36595915	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:36595915T>A	uc001mwu.3	+	2	1185	c.1061T>A	c.(1060-1062)CTG>CAG	p.L354Q	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	354	RAG1-type.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGAATTCCCTGATGGTGAAA	0.443	Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)		NA							Familial_Hemophagocytic_Lymphohistiocytosis				11	44					0	0	0.010729	0	0
PRDM11	56981	broad.mit.edu	37	11	45204512	45204512	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:45204512G>A	uc001myo.2	+	5	675	c.426G>A	c.(424-426)CGG>CGA	p.R142R		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	PR domain containing 11	142										upper_aerodigestive_tract(1)	1						TCCCAGACCGGGCGGCGCTCA	0.602	NSCLC(118;1511 1736 6472 36603 43224)		NA											4	61					0	0	0.000602	0	0
OR8I2	120586	broad.mit.edu	37	11	55861088	55861088	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:55861088A>G	uc010rix.1	+	1	305	c.305A>G	c.(304-306)TAC>TGC	p.Y102C		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					GTTCAAATGTACTTTTTTGTT	0.403			NA											50	107					0	0	0.01441	0	0
OR9I1	219954	broad.mit.edu	37	11	57886277	57886277	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:57886277T>G	uc001nml.1	-	1	640	c.640A>C	c.(640-642)ATC>CTC	p.I214L	OR9Q1_uc001nmj.2_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1		Breast(21;0.0589)				GAAATCAGGATGACGGAGGCA	0.483			NA											11	28					0	0	0.010729	0	0
SYT7	9066	broad.mit.edu	37	11	61291970	61291970	+	Silent	SNP	G	G	C	rs146401168		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:61291970G>C	uc001nrv.2	-	6	663	c.657C>G	c.(655-657)CTC>CTG	p.L219L	SYT7_uc009ynr.2_Silent_p.L294L	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	219	C2 1.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4						CTTGGAGGTAGAGGATCCTCT	0.592			NA											10	54					0	0	0.008291	0	0
C11orf9	745	broad.mit.edu	37	11	61547315	61547315	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:61547315C>T	uc001nsc.1	+	17	2345	c.2249C>T	c.(2248-2250)TCA>TTA	p.S750L	C11orf9_uc001nse.1_Missense_Mutation_p.S741L|C11orf9_uc010rll.1_Missense_Mutation_p.S141L	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	750					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						GGTCCTCAGTCATCGTCCGTG	0.617			NA											4	34					0	0	0.009096	0	0
AHNAK	79026	broad.mit.edu	37	11	62301375	62301375	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:62301375C>T	uc001ntl.2	-	5	814	c.514G>A	c.(514-516)GAC>AAC	p.D172N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	172					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATGTCTATGTCCTTGGCTCCT	0.532			NA											22	63					0	0	0.003954	0	0
C11orf2	738	broad.mit.edu	37	11	64875837	64875837	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:64875837C>T	uc001ocr.1	+	5	934	c.894C>T	c.(892-894)CCC>CCT	p.P298P	C11orf2_uc001ocs.1_Silent_p.P174P	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	chromosome 11 open reading frame 2	298					lipid transport|protein transport	Golgi apparatus|integral to membrane					0						CTCCGGCTCCCGACGTGTTAG	0.701			NA											4	34					0	0	0.001984	0	0
LTBP3	4054	broad.mit.edu	37	11	65319748	65319748	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:65319748C>T	uc001oej.2	-	7	1585	c.1316G>A	c.(1315-1317)CGG>CAG	p.R439Q	LTBP3_uc010roi.1_Missense_Mutation_p.R322Q|LTBP3_uc001oei.2_Missense_Mutation_p.R439Q|LTBP3_uc010roj.1_Missense_Mutation_p.R140Q|LTBP3_uc010rok.1_Missense_Mutation_p.R350Q	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	439	TB 2.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						GCGCTGACACCGCGCGCCCCA	0.642			NA									OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	99					0	0	0.012319	0	0
SAPS3	55291	broad.mit.edu	37	11	68305257	68305257	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:68305257G>T	uc001onw.2	+	3	392	c.125G>T	c.(124-126)CGC>CTC	p.R42L	SAPS3_uc010rqb.1_Intron|SAPS3_uc001onv.2_Missense_Mutation_p.R42L|SAPS3_uc001ony.3_Missense_Mutation_p.R42L|SAPS3_uc001onx.2_Missense_Mutation_p.R42L|SAPS3_uc009ysh.2_Missense_Mutation_p.R42L|SAPS3_uc001onu.2_Missense_Mutation_p.R42L|SAPS3_uc010rqc.1_Intron	NM_001164161	NP_001157633	Q5H9R7	PP6R3_HUMAN	SAPS domain family, member 3 isoform 6	42					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding				0			LUAD - Lung adenocarcinoma(13;0.102)			GCTCAGAACCGCAAACTTATA	0.368			NA											15	27					3.27435e-08	3.8389e-08	0.00245	1	0
ANO1	55107	broad.mit.edu	37	11	69950160	69950160	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:69950160A>T	uc001opj.2	+	4	901	c.596A>T	c.(595-597)CAG>CTG	p.Q199L	ANO1_uc001opk.1_Missense_Mutation_p.Q171L|ANO1_uc001opl.1_RNA	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	199	Cytoplasmic (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						TCTGTGCTCCAGAAAATCACA	0.532			NA											3	13					0	0	0.004672	0	0
IQSEC3	440073	broad.mit.edu	37	12	283906	283906	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:283906C>G	uc001qhw.1	+	11	2353	c.2347C>G	c.(2347-2349)CCC>GCC	p.P783A		NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1086	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCCACCCACGCCCCCGGGCAC	0.721			NA											5	16					0	0	0.001168	0	0
GYS2	2998	broad.mit.edu	37	12	21713361	21713361	+	Missense_Mutation	SNP	G	G	T	rs139043251	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:21713361G>T	uc001rfb.2	-	8	1383	c.1128C>A	c.(1126-1128)AAC>AAA	p.N376K		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	376					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2						GGGTTTCCACGTTGAAATTAT	0.373	Colon(149;9 1820 3690 10544 50424)		NA											20	86					1.87028e-06	2.10407e-06	0.012319	1	0
SYT10	341359	broad.mit.edu	37	12	33529797	33529797	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:33529797A>T	uc001rll.1	-	7	1837	c.1540T>A	c.(1540-1542)TGC>AGC	p.C514S	SYT10_uc009zju.1_Missense_Mutation_p.C324S	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	514	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GGAGAAGGGCAGGATCCTTGA	0.403			NA											24	62					0	0	0.003954	0	0
SCN8A	6334	broad.mit.edu	37	12	52080931	52080931	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:52080931G>A	uc001ryw.2	+	5	720	c.542G>A	c.(541-543)GGT>GAT	p.G181D	SCN8A_uc010snl.1_Missense_Mutation_p.G46D|SCN8A_uc001ryx.1_Missense_Mutation_p.G46D|SCN8A_uc001ryz.1_Missense_Mutation_p.G46D|SCN8A_uc001ryy.2_Missense_Mutation_p.G46D	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha	181	I.				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			ovary(7)	7				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ATTGCAAGAGGTTTCTGCATA	0.393			NA											5	71					0	0	0.000602	0	0
OR6C70	390327	broad.mit.edu	37	12	55863743	55863743	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:55863743G>A	uc010spn.1	-	1	180	c.180C>T	c.(178-180)TTC>TTT	p.F60F		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	60	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						AATTACGGAGGAAGAAATACA	0.393			NA											16	33					0	0	0.00499	0	0
FGD6	55785	broad.mit.edu	37	12	95546736	95546736	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:95546736G>C	uc001tdp.3	-	4	2844	c.2620C>G	c.(2620-2622)CAT>GAT	p.H874D	FGD6_uc009zsx.2_Missense_Mutation_p.H7D	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	874	DH.				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(2)|breast(1)	3						TTGGCAATATGATGAACTTTA	0.343			NA											4	66					0	0	0.009096	0	0
STAB2	55576	broad.mit.edu	37	12	104054517	104054517	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:104054517C>A	uc001tjw.2	+	17	2031	c.1845C>A	c.(1843-1845)CTC>CTA	p.L615L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	615	Extracellular (Potential).|FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CCAACCAGCTCATACAGTTCA	0.453			NA											22	65					2.79863e-10	3.42553e-10	0.004656	1	0
CCDC60	160777	broad.mit.edu	37	12	119968728	119968728	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:119968728C>A	uc001txe.2	+	13	1876	c.1411C>A	c.(1411-1413)CCC>ACC	p.P471T	uc001txf.2_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	471										ovary(2)|upper_aerodigestive_tract(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GAACTTCCGCCCCGCCAAAAA	0.488			NA											44	63					1.62263e-30	2.30941e-30	0.01441	1	0
TMEM132D	121256	broad.mit.edu	37	12	129569124	129569124	+	Silent	SNP	G	G	T	rs144267550		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:129569124G>T	uc009zyl.1	-	6	1895	c.1567C>A	c.(1567-1569)CGG>AGG	p.R523R	TMEM132D_uc001uia.2_Silent_p.R61R	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	523	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGCGGAAGCCGGGGCACCCAC	0.567			NA											14	32					6.53275e-17	8.76764e-17	0.00245	1	0
GOLGA3	2802	broad.mit.edu	37	12	133372559	133372559	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:133372559T>A	uc001ukz.1	-	11	2907	c.2348A>T	c.(2347-2349)CAG>CTG	p.Q783L	GOLGA3_uc001ula.1_Missense_Mutation_p.Q783L|GOLGA3_uc001ulb.2_Missense_Mutation_p.Q783L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	783	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CTTGGCCGCCTGCAAAGCCGC	0.582			NA											11	87					0	0	0.010729	0	0
MTUS2	23281	broad.mit.edu	37	13	29608081	29608081	+	Silent	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:29608081C>G	uc001usl.3	+	2	2353	c.2295C>G	c.(2293-2295)GTC>GTG	p.V765V		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	755	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						ATTATGAAGTCCCTCCAACTT	0.443			NA											10	24					0	0	0.006214	0	0
PCDH20	64881	broad.mit.edu	37	13	61986212	61986212	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:61986212C>G	uc001vid.3	-	2	2384	c.2020G>C	c.(2020-2022)GTC>CTC	p.V674L	PCDH20_uc010thj.1_Missense_Mutation_p.V674L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	647	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGGGCGACCCATCCATTT	0.458			NA											25	45					0	0	0.00278	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369859	86369859	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:86369859T>C	uc001vll.1	-	2	1244	c.785A>G	c.(784-786)AAG>AGG	p.K262R	SLITRK6_uc010afe.1_Missense_Mutation_p.K27R	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	262	Extracellular (Potential).|LRRCT 1.					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGATTCCTTCTTTAGTCTACT	0.398			NA											22	28					0	0	0.012319	0	0
NALCN	259232	broad.mit.edu	37	13	101881875	101881875	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr13:101881875T>C	uc001vox.1	-	13	1684	c.1495A>G	c.(1495-1497)ATA>GTA	p.I499V	NALCN_uc001voy.2_Missense_Mutation_p.I214V|NALCN_uc001voz.2_Missense_Mutation_p.I499V|NALCN_uc001vpa.2_Missense_Mutation_p.I499V	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	499	Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGACCAAATATCTTGTACACA	0.388			NA											109	48					0	0	0.01441	0	0
OR4E2	26686	broad.mit.edu	37	14	22133530	22133530	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:22133530G>T	uc010tmd.1	+	1	234	c.234G>T	c.(232-234)GTG>GTT	p.V78V		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTGTCACTGTGCCTAAGATGT	0.443			NA											98	175					6.00224e-42	9.0925e-42	0.01441	1	0
FANCM	57697	broad.mit.edu	37	14	45658096	45658096	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:45658096G>T	uc001wwd.3	+	20	4970	c.4871G>T	c.(4870-4872)TGT>TTT	p.C1624F	FANCM_uc010anf.2_Missense_Mutation_p.C1598F|FANCM_uc001wwe.3_Missense_Mutation_p.C1160F|FANCM_uc010ang.2_Missense_Mutation_p.C838F	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1624					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7						GAAGAAGTTTGTGTTGATTTT	0.318			NA						Involved_in_tolerance_or_repair_of_DNA_crosslinks	FanconAnemia				25	55					9.57634e-11	1.1816e-10	0.00333	1	0
SLC8A3	6547	broad.mit.edu	37	14	70633711	70633711	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:70633711C>A	uc001xly.2	-	2	2183	c.1429G>T	c.(1429-1431)GAT>TAT	p.D477Y	SLC8A3_uc001xlw.2_Missense_Mutation_p.D477Y|SLC8A3_uc001xlx.2_Missense_Mutation_p.D477Y|SLC8A3_uc001xlz.2_Missense_Mutation_p.D477Y|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	477	Calx-beta 1.|Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGTGTTCATCCTCCTCAAAA	0.517			NA											63	167					3.13296e-38	4.69944e-38	0.01441	1	0
VASH1	22846	broad.mit.edu	37	14	77242295	77242295	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:77242295C>A	uc001xst.2	+	5	1521	c.591C>A	c.(589-591)TTC>TTA	p.F197L		NM_014909	NP_055724	Q7L8A9	VASH1_HUMAN	vasohibin 1	197					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGACCTACTTCTCAGGGAACT	0.617			NA											4	11					0.00024832	0.000268501	0.009096	1	0
KIAA1409	57578	broad.mit.edu	37	14	94079309	94079309	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:94079309G>T	uc001ybv.1	+	25	3539	c.3456G>T	c.(3454-3456)ACG>ACT	p.T1152T	KIAA1409_uc001ybs.1_Silent_p.T1130T	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1307						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)		CCTTCAACACGGTCAAGCGAC	0.488			NA											14	53					3.27435e-08	3.8389e-08	0.00245	1	0
HHIPL1	84439	broad.mit.edu	37	14	100119151	100119151	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:100119151C>T	uc010avs.2	+	2	911	c.846C>T	c.(844-846)ATC>ATT	p.I282I	HHIPL1_uc001ygl.1_Silent_p.I282I	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	HHIP-like protein 1 isoform a	282					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			skin(2)	2		Melanoma(154;0.128)				GGATCCGCATCAGCGAGTTCA	0.627			NA											5	35					0	0	0.000602	0	0
GABRB3	2562	broad.mit.edu	37	15	27017582	27017582	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:27017582G>A	uc001zaz.2	-	3	349	c.207C>T	c.(205-207)ATC>ATT	p.I69I	GABRB3_uc001zba.2_Silent_p.I69I|GABRB3_uc001zbb.2_Silent_p.I125I	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	69	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CGATGCTGGCGATGTCGATGT	0.587			NA											9	7					0	0	0.008291	0	0
GABRG3	2567	broad.mit.edu	37	15	27765254	27765254	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:27765254A>G	uc001zbg.1	+	7	1015	c.849A>G	c.(847-849)CCA>CCG	p.P283P		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	283	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATGCTACGCCAGCAAGAACAG	0.353	NSCLC(114;800 1656 7410 37729 45293)		NA											6	9					0	0	0.006214	0	0
NARG2	79664	broad.mit.edu	37	15	60768320	60768320	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:60768320T>G	uc002agp.2	-	3	323	c.88A>C	c.(88-90)AAT>CAT	p.N30H	NARG2_uc002ago.2_5'UTR|NARG2_uc010bgk.2_Missense_Mutation_p.N30H|NARG2_uc002agr.1_Missense_Mutation_p.N30H	NM_024611	NP_078887	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2 isoform a	30						nucleus				ovary(1)|lung(1)	2						TCTTTATAATTTTCTCGAGAG	0.313			NA											6	42					0	0	0.001168	0	0
VPS13C	54832	broad.mit.edu	37	15	62176408	62176408	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:62176408C>T	uc002agz.2	-	68	9476	c.9402G>A	c.(9400-9402)CAG>CAA	p.Q3134Q	VPS13C_uc002aha.2_Silent_p.Q3091Q|VPS13C_uc002ahb.1_Silent_p.Q3134Q|VPS13C_uc002ahc.1_Silent_p.Q3091Q	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	3134					protein localization					ovary(2)	2						ATAAGATTATCTGCTTTTGAC	0.313			NA											17	46					0	0	0.004007	0	0
HERC1	8925	broad.mit.edu	37	15	64041977	64041977	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:64041977C>T	uc002amp.2	-	9	2064	c.1916G>A	c.(1915-1917)GGC>GAC	p.G639D	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	639	RCC1 6.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						AGCTCCACAGCCCCAAGCATA	0.383			NA											4	2					0	0	0.000602	0	0
IQCH	64799	broad.mit.edu	37	15	67709303	67709303	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:67709303C>G	uc002aqo.1	+	15	2179	c.2132C>G	c.(2131-2133)GCG>GGG	p.A711G	IQCH_uc002aqq.1_Missense_Mutation_p.A368G|IQCH_uc002aqp.1_Missense_Mutation_p.A372G|uc002aqr.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	711										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		GAGGAGCTGGCGGGCATTTTA	0.443			NA											3	23					0	0	0.004672	0	0
MYO9A	4649	broad.mit.edu	37	15	72144597	72144597	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:72144597A>G	uc002atl.3	-	36	6824	c.6351T>C	c.(6349-6351)GCT>GCC	p.A2117A	MYO9A_uc002atj.2_Silent_p.A30A|MYO9A_uc002atk.2_Silent_p.A912A	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	2117	Phorbol-ester/DAG-type 2.|Tail.|Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3						TTACACTCTCAGCATCTATTT	0.353			NA											4	29					0	0	0.009096	0	0
BCL2A1	597	broad.mit.edu	37	15	80263323	80263323	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:80263323C>A	uc002bfc.3	-	1	321	c.139G>T	c.(139-141)GAA>TAA	p.E47*	BCL2A1_uc002bfd.3_Nonsense_Mutation_p.E47*	NM_004049	NP_004040	Q16548	B2LA1_HUMAN	BCL2-related protein A1 isoform 1	47					anti-apoptosis|apoptosis	cytoplasm	protein binding			pancreas(1)	1						TTTTCCACTTCTTTTTGGACT	0.438			NA											20	67					1.56452e-12	1.97014e-12	0.007413	1	0
LINS1	55180	broad.mit.edu	37	15	101114125	101114125	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:101114125C>A	uc002bwe.2	-	6	1244	c.953G>T	c.(952-954)GGA>GTA	p.G318V	LINS1_uc002bwd.2_5'Flank|LINS1_uc002bwf.2_Missense_Mutation_p.G318V|LINS1_uc002bwg.2_Missense_Mutation_p.G318V|LINS1_uc002bwh.2_Missense_Mutation_p.G318V|LINS1_uc010usa.1_Missense_Mutation_p.G199V|LINS1_uc002bwi.2_Missense_Mutation_p.G318V	NM_001040614	NP_001035704	Q8NG48	LINES_HUMAN	lines homolog 1	318											0	Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AGGCACAGATCCACGACAGAG	0.463			NA											43	62					6.57855e-14	8.52981e-14	0.009718	1	0
ACSM5	54988	broad.mit.edu	37	16	20422953	20422953	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:20422953G>T	uc002dhe.2	+	2	294	c.147G>T	c.(145-147)GTG>GTT	p.V49V	ACSM5_uc002dhd.1_Silent_p.V49V	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	49					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						GGCAGCTGGTGCCTGAGTACT	0.577			NA											15	30					4.93089e-13	6.31319e-13	0.00245	1	0
UBFD1	56061	broad.mit.edu	37	16	23581814	23581814	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:23581814G>T	uc002dlv.2	+	7	1035	c.833G>T	c.(832-834)GGC>GTC	p.G278V		NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	278											0				GBM - Glioblastoma multiforme(48;0.0331)		TTTCAGTTGGGCCCCACGGAA	0.507	Melanoma(22;290 1069 22358 48158)		NA											36	72					9.73076e-26	1.36588e-25	0.006999	1	0
SLC6A2	6530	broad.mit.edu	37	16	55705996	55705996	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:55705996T>A	uc002eif.2	+	4	664	c.553T>A	c.(553-555)TGT>AGT	p.C185S	SLC6A2_uc010ccd.2_Missense_Mutation_p.C185S|SLC6A2_uc002eig.2_Missense_Mutation_p.C185S|SLC6A2_uc002eih.2_Missense_Mutation_p.C185S|SLC6A2_uc002eii.2_Missense_Mutation_p.C80S	NM_001043	NP_001034	P23975	SC6A2_HUMAN	solute carrier family 6 member 2	185	Extracellular (Potential).				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			lung(4)|ovary(2)|pancreas(2)	8				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGCCCCAACTGTACCGACCC	0.557			NA											44	38					0	0	0.01441	0	0
GNAO1	2775	broad.mit.edu	37	16	56377861	56377861	+	Nonstop_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:56377861G>T	uc002eit.3	+	8	1961	c.1064G>T	c.(1063-1065)TGA>TTA	p.*355L	GNAO1_uc002eiu.3_Intron	NM_138736	NP_620073	P09471	GNAO_HUMAN	guanine nucleotide binding protein, alpha	355					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			lung(1)|breast(1)	2		all_neural(199;0.159)				GGACTCTACTGAGCCCAGCCG	0.627			NA											15	50					0.000422831	0.000455586	0.004007	1	0
C16orf80	29105	broad.mit.edu	37	16	58148723	58148723	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:58148723G>A	uc002enb.1	-	5	844	c.567C>T	c.(565-567)AAC>AAT	p.N189N		NM_013242	NP_037374	Q9Y6A4	CP080_HUMAN	transcription factor IIB	189					multicellular organismal development						0						CCTTTGCCTTGTTCTGAACTG	0.517	Pancreas(103;1212 1612 18629 30162 52390)		NA											11	63					0	0	0.010729	0	0
CDH5	1003	broad.mit.edu	37	16	66423424	66423424	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:66423424G>T	uc002eom.3	+	5	936	c.780G>T	c.(778-780)CAG>CAT	p.Q260H	CDH5_uc002eon.1_Missense_Mutation_p.Q260H	NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	260	Cadherin 3.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		TCTTCACCCAGAGTGAGCCCC	0.602			NA											31	38					1.62565e-12	2.03872e-12	0.012213	1	0
CTCF	10664	broad.mit.edu	37	16	67662384	67662384	+	Missense_Mutation	SNP	C	C	T	rs112926498		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:67662384C>T	uc002etl.2	+	9	1920	c.1630C>T	c.(1630-1632)CGC>TGC	p.R544C	CTCF_uc010cek.2_Missense_Mutation_p.R216C|CTCF_uc002etm.1_Missense_Mutation_p.R33C	NM_006565	NP_006556	P49711	CTCF_HUMAN	CCCTC-binding factor	544	C2H2-type 10.				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GCACTTCAAGCGCTATCACGA	0.537	Colon(175;1200 1966 6945 23069 27405)		NA											49	78					0	0	0.01441	0	0
AARS	16	broad.mit.edu	37	16	70291981	70291981	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:70291981G>C	uc002eyn.1	-	15	2242	c.2132C>G	c.(2131-2133)TCT>TGT	p.S711C	AARS_uc010vlu.1_Missense_Mutation_p.S541C	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	711					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	AGCAGGCCCAGAGGGGTCATC	0.587			NA											4	23					0	0	0.009096	0	0
ZFHX3	463	broad.mit.edu	37	16	72993137	72993137	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:72993137T>C	uc002fck.2	-	2	1581	c.908A>G	c.(907-909)CAT>CGT	p.H303R	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	303	C2H2-type 1.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TCGATGGTCATGCACCGCGTG	0.502			NA											13	52					0	0	0.00245	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064472	78064472	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:78064472G>T	uc002ffh.3	+	3	409	c.328G>T	c.(328-330)GAA>TAA	p.E110*		NM_005752	NP_005743	O75596	CLC3A_HUMAN	C-type lectin domain family 3 member A	110	C-type lectin.				skeletal system development	extracellular region	sugar binding				0						GAACTCCGACGAAATCAACGC	0.478			NA											15	58					2.32078e-09	2.77406e-09	0.003163	1	0
PLCG2	5336	broad.mit.edu	37	16	81904518	81904518	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:81904518T>A	uc002fgt.2	+	7	778	c.626T>A	c.(625-627)CTT>CAT	p.L209H	PLCG2_uc010chg.1_Missense_Mutation_p.L209H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	209					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						TATAAAAAACTTATGTTTGAA	0.338			NA											7	18					0	0	0.00308	0	0
KIAA1609	57707	broad.mit.edu	37	16	84513594	84513594	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:84513594C>A	uc002fib.2	-	8	1403	c.1296G>T	c.(1294-1296)GAG>GAT	p.E432D	KIAA1609_uc010vod.1_Missense_Mutation_p.E405D|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707	432							protein binding			ovary(2)	2						GGGCCTGGGCCTCAGGGTCCG	0.617			NA											11	17					1.5842e-08	1.87168e-08	0.001855	1	0
CDK10	8558	broad.mit.edu	37	16	89761706	89761706	+	Missense_Mutation	SNP	C	C	T	rs151021544		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:89761706C>T	uc010cio.2	+	12	981	c.938C>T	c.(937-939)ACG>ATG	p.T313M	CDK10_uc002fod.2_Missense_Mutation_p.T242M|CDK10_uc002foe.2_Missense_Mutation_p.T242M|CDK10_uc002fof.2_Missense_Mutation_p.T236M|CDK10_uc002fog.3_Missense_Mutation_p.T242M|CDK10_uc002foh.3_Missense_Mutation_p.T242M|CDK10_uc002foi.2_RNA	NM_052988	NP_443714	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10 isoform a	313	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TCCAGGGCGACGGCCGGGGAC	0.607			NA											15	72					0	0	0.007413	0	0
MYO18A	399687	broad.mit.edu	37	17	27448136	27448136	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:27448136G>A	uc002hdt.1	-	6	1623	c.1465C>T	c.(1465-1467)CGT>TGT	p.R489C	MYO18A_uc010wbc.1_Missense_Mutation_p.R31C|MYO18A_uc002hds.2_Missense_Mutation_p.R31C|MYO18A_uc010csa.1_Missense_Mutation_p.R489C|MYO18A_uc002hdu.1_Missense_Mutation_p.R489C|MYO18A_uc010wbd.1_Missense_Mutation_p.R158C	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	489	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGATCCTGACGGCTCATCAGC	0.602	Esophageal Squamous(182;472 2015 7001 15270 22562)		NA											4	11					0	0	0.009096	0	0
COL1A1	1277	broad.mit.edu	37	17	48271518	48271518	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:48271518A>G	uc002iqm.2	-	24	1767	c.1641T>C	c.(1639-1641)CCT>CCC	p.P547P		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	547	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)	CATCAGGACCAGGGCTGCCAG	0.607			NA	T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						3	85					0	0	0.004672	0	0
SEC14L1	6397	broad.mit.edu	37	17	75208083	75208083	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:75208083G>T	uc002jto.2	+	15	1930	c.1663G>T	c.(1663-1665)GTG>TTG	p.V555L	SEC14L1_uc010dhc.2_Missense_Mutation_p.V555L|SEC14L1_uc010wth.1_Missense_Mutation_p.V555L|SEC14L1_uc002jtm.2_Missense_Mutation_p.V555L|SEC14L1_uc010wti.1_Missense_Mutation_p.V521L|SEC14L1_uc010wtj.1_Intron|SEC14L1_uc002jtr.2_5'UTR	NM_003003	NP_002994	Q92503	S14L1_HUMAN	SEC14 (S. cerevisiae)-like 1 isoform a	555	GOLD.				transport	Golgi apparatus|integral to membrane	binding			ovary(2)	2						GGATTTCGACGTGTGCAAAGG	0.537			NA											79	282					1.07363e-35	1.57947e-35	0.01441	1	0
Unknown	0	broad.mit.edu	37	17	78286894	78286894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:78286894G>A	uc002jyf.2	+	15	2881	c.2738G>A	c.(2737-2739)TGG>TAG	p.W913*	uc002jyg.1_Nonsense_Mutation_p.W644*	NM_020954	NP_066005			hypothetical protein LOC57714												NA						ACGAAAAGGTGGCTCCGAGAA	0.468			NA											33	107					0	0	0.012213	0	0
LAMA1	284217	broad.mit.edu	37	18	7040152	7040152	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:7040152G>A	uc002knm.2	-	10	1439	c.1345C>T	c.(1345-1347)CCG>TCG	p.P449S	LAMA1_uc010wzj.1_5'UTR	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	449	Laminin EGF-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACAGGTCGGGTAATCCTTA	0.527			NA											33	23					0	0	0.012213	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257097	9257097	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:9257097G>T	uc002knv.2	+	9	4089	c.3832G>T	c.(3832-3834)GCA>TCA	p.A1278S	ANKRD12_uc002knw.2_Missense_Mutation_p.A1255S|ANKRD12_uc002knx.2_Missense_Mutation_p.A1255S|ANKRD12_uc010dkx.1_Missense_Mutation_p.A985S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1278						nucleus				ovary(2)|central_nervous_system(1)	3						ACCACCATATGCAAACAGACT	0.433			NA											43	72					1.32136e-16	1.76565e-16	0.00874	1	0
CIDEA	1149	broad.mit.edu	37	18	12262951	12262951	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:12262951C>A	uc002kqt.3	+	2	231	c.166C>A	c.(166-168)CAG>AAG	p.Q56K	CIDEA_uc002kqu.3_Missense_Mutation_p.Q90K|CIDEA_uc010dlc.2_RNA	NM_001279	NP_001270	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a isoform	56	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			ovary(1)|central_nervous_system(1)	2						AAGCAGCCTGCAGGAGCTCAT	0.637			NA											8	37					1.06961e-07	1.24449e-07	0.00308	1	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:14513764C>T	uc010dln.2	-	10	1884	c.1430G>A	c.(1429-1431)CGG>CAG	p.R477Q	POTEC_uc010xaj.1_RNA	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	477										skin(3)	3						AAGTTGTTTCCGGGTATCATT	0.358			NA											4	64					0	0	0.000602	0	0
CABLES1	91768	broad.mit.edu	37	18	20716393	20716393	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:20716393G>A	uc002kuc.2	+	1	667	c.667G>A	c.(667-669)GCC>ACC	p.A223T	CABLES1_uc002kub.2_Intron	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	223	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCCGGCGGCCGCCTTTTTGGG	0.692			NA											12	10					0	0	0.010729	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60217600	60217600	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:60217600C>T	uc002lip.3	+	5	1220	c.1220C>T	c.(1219-1221)TCA>TTA	p.S407L	ZCCHC2_uc002lio.2_RNA	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	407					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			lung(1)|prostate(1)	2						GAACTGTCTTCAGAGACTTTT	0.398			NA											15	10					0	0	0.003163	0	0
CDH7	1005	broad.mit.edu	37	18	63511198	63511198	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr18:63511198T>A	uc002ljz.2	+	7	1457	c.1132T>A	c.(1132-1134)TCT>ACT	p.S378T	CDH7_uc002lka.2_Missense_Mutation_p.S378T|CDH7_uc002lkb.2_Missense_Mutation_p.S378T	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	378	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)				CCCTGTGTTCTCTTCACCCTT	0.493			NA											51	42					0	0	0.01441	0	0
HMHA1	23526	broad.mit.edu	37	19	1080092	1080092	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:1080092G>C	uc002lqz.1	+	13	1909	c.1678G>C	c.(1678-1680)GAG>CAG	p.E560Q	HMHA1_uc010xgd.1_Missense_Mutation_p.E576Q|HMHA1_uc010xge.1_Missense_Mutation_p.E400Q|HMHA1_uc002lra.1_Missense_Mutation_p.E400Q|HMHA1_uc002lrb.1_Missense_Mutation_p.E443Q|HMHA1_uc002lrc.1_Missense_Mutation_p.E195Q|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	560					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTACGACTTTGAGCCCCACGT	0.687			NA											20	16					0	0	0.010504	0	0
STK11	6794	broad.mit.edu	37	19	1220699	1220699	+	Missense_Mutation	SNP	G	G	T	rs137853082		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:1220699G>T	uc002lrl.1	+	5	1832	c.717G>T	c.(715-717)TGG>TGT	p.W239C		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	239	Protein kinase.		W -> C (in PJS; late onset suggests reduced penetrance).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.?(2)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACATCTGGTCGGCTGGGG	0.701			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			15	12					6.94344e-10	8.43132e-10	0.006122	1	0
ATP8B3	148229	broad.mit.edu	37	19	1791815	1791815	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:1791815G>A	uc002ltw.2	-	20	2470	c.2236C>T	c.(2236-2238)CCT>TCT	p.P746S	ATP8B3_uc002ltv.2_Missense_Mutation_p.P709S|ATP8B3_uc002ltx.2_RNA	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	746	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGGTTTCAGGGACACCGTCC	0.622			NA											14	12					0	0	0.00245	0	0
TSPAN16	26526	broad.mit.edu	37	19	11417396	11417396	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:11417396C>T	uc002mqv.1	+	5	717	c.567C>T	c.(565-567)GAC>GAT	p.D189D	TSPAN16_uc002mqu.1_RNA|uc002mqw.1_RNA	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	transmembrane 4 superfamily member 16	189	Cytoplasmic (Potential).					integral to membrane				skin(1)	1						TGTCCTGTGACGGACGCGATG	0.478			NA											6	23					0	0	0.001168	0	0
EMR3	84658	broad.mit.edu	37	19	14755018	14755018	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:14755018T>C	uc002mzi.3	-	9	1100	c.952A>G	c.(952-954)AGG>GGG	p.R318G	EMR3_uc010dzp.2_Missense_Mutation_p.R266G|EMR3_uc010xnv.1_Missense_Mutation_p.R192G	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	egf-like module-containing mucin-like receptor	318	Extracellular (Potential).|GPS.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(5)|skin(1)	6						CAGCCATCCCTGGACCACTGG	0.517			NA											19	29					0	0	0.010504	0	0
KIAA1683	80726	broad.mit.edu	37	19	18368705	18368705	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:18368705C>A	uc002nin.2	-	4	3044	c.2828G>T	c.(2827-2829)CGT>CTT	p.R943L	PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Missense_Mutation_p.R1130L|KIAA1683_uc010xqe.1_Missense_Mutation_p.R897L|KIAA1683_uc010xqf.1_RNA	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	943	IQ 2.					mitochondrion				ovary(2)	2						GATCCTGCGACGCGCCAGGTA	0.672			NA											23	30					3.62473e-10	4.419e-10	0.012319	1	0
GGN	199720	broad.mit.edu	37	19	38876800	38876800	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:38876800C>T	uc002oij.1	-	3	1237	c.1102G>A	c.(1102-1104)GGG>AGG	p.G368R	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Missense_Mutation_p.G285R	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	gametogenetin	368	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis						0	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGCCAGCCCCGTTGAAGCGG	0.697			NA											5	5					0	0	0.001168	0	0
CD177	57126	broad.mit.edu	37	19	43858435	43858435	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:43858435G>T	uc002owi.2	+	3	312	c.270G>T	c.(268-270)CGG>CGT	p.R90R	CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	CD177 molecule precursor	90					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)	1		Prostate(69;0.00682)				CTGAGCACCGGATGGGCCCCG	0.652			NA											12	19					5.16669e-11	6.40083e-11	0.010729	1	0
KIR2DS4	3809	broad.mit.edu	37	19	55349245	55349245	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:55349245A>G	uc002qhm.1	+	3	331	c.285A>G	c.(283-285)GCA>GCG	p.A95A	KIR2DS4_uc010yfj.1_Silent_p.A88A|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.A95A|KIR2DS4_uc002qhn.1_Silent_p.A42A	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	95	Extracellular (Potential).|Ig-like C2-type 1.					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		CTGTCCTTGCAGGAACCTACA	0.517			NA											9	217					0	0	0.006214	0	0
PEG3	5178	broad.mit.edu	37	19	57326368	57326368	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:57326368G>A	uc002qnu.2	-	7	3793	c.3442C>T	c.(3442-3444)CAT>TAT	p.H1148Y	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H1119Y|PEG3_uc002qnv.2_Missense_Mutation_p.H1148Y|PEG3_uc002qnw.2_Missense_Mutation_p.H1024Y|PEG3_uc002qnx.2_Missense_Mutation_p.H1022Y|PEG3_uc010etr.2_Missense_Mutation_p.H1148Y	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1148					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGATGGAATGGGTGTGAATT	0.468			NA											47	69					0	0	0.01441	0	0
ZNF304	57343	broad.mit.edu	37	19	57867553	57867553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr19:57867553G>T	uc010ygw.1	+	3	704	c.316G>T	c.(316-318)GAA>TAA	p.E106*	ZNF304_uc010etw.2_Nonsense_Mutation_p.E153*|ZNF304_uc010etx.2_Nonsense_Mutation_p.E64*	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	106	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCACCTGGCTGAACACCAGGG	0.493			NA											6	30					3.59834e-05	3.96076e-05	0.001168	1	0
GREB1	9687	broad.mit.edu	37	2	11733209	11733209	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:11733209C>T	uc002rbk.1	+	11	1953	c.1653C>T	c.(1651-1653)TGC>TGT	p.C551C	GREB1_uc002rbo.1_Silent_p.C185C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	551						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCATCATCTGCGCCTGCCGCA	0.662	Ovarian(39;850 945 2785 23371 33093)		NA											8	17					0	0	0.006214	0	0
SOCS5	9655	broad.mit.edu	37	2	46986926	46986926	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:46986926C>T	uc002rvf.2	+	2	1421	c.1257C>T	c.(1255-1257)TTC>TTT	p.F419F	SOCS5_uc010yoe.1_Silent_p.F388F|SOCS5_uc002rvg.2_Silent_p.F419F	NM_014011	NP_054730	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	419	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					ovary(1)|lung(1)|central_nervous_system(1)	3		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTGTGAGCTTCCGCCGCTACA	0.517			NA											34	56					0	0	0.012213	0	0
DCTN1	1639	broad.mit.edu	37	2	74589189	74589189	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:74589189G>A	uc002skx.2	-	31	4000	c.3689C>T	c.(3688-3690)GCC>GTC	p.A1230V	SLC4A5_uc002skl.2_RNA|DCTN1_uc002skt.1_Missense_Mutation_p.A164V|DCTN1_uc002skv.2_Missense_Mutation_p.A1096V|DCTN1_uc002sku.2_Missense_Mutation_p.A1091V|DCTN1_uc002skw.1_Missense_Mutation_p.A1206V|DCTN1_uc010ffd.2_Missense_Mutation_p.A1205V|DCTN1_uc002sky.2_Missense_Mutation_p.A1188V	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	1230					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5						CCTGAGGAAGGCTGATGAAGG	0.602			NA											21	49					0	0	0.014323	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98171707	98171707	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:98171707C>A	uc010yvc.1	-	13	1360	c.1080G>T	c.(1078-1080)CAG>CAT	p.Q360H	ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	360											0						CTGGTTGTTTCTGAGAAGACA	0.289			NA											13	21					6.49762e-13	8.28446e-13	0.006122	1	0
TSGA10	80705	broad.mit.edu	37	2	99685410	99685410	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:99685410G>C	uc002szg.3	-	13	1787	c.1159C>G	c.(1159-1161)CAG>GAG	p.Q387E	TSGA10_uc002szh.3_Missense_Mutation_p.Q387E|TSGA10_uc002szi.3_Missense_Mutation_p.Q387E|TSGA10_uc010fin.1_Missense_Mutation_p.Q387E	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	387					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						TGAACCTTCTGTTTTATGTCA	0.264			NA											19	41					0	0	0.00278	0	0
XIRP2	129446	broad.mit.edu	37	2	168104328	168104328	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:168104328G>A	uc002udx.2	+	8	6444	c.6426G>A	c.(6424-6426)AAG>AAA	p.K2142K	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.K1967K|XIRP2_uc010fpq.2_Silent_p.K1920K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'UTR	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	1967					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14						TTCATATAAAGAGTCCTAAAA	0.398			NA											6	101					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179480201	179480201	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:179480201G>C	uc010zfg.1	-	208	40991	c.40767C>G	c.(40765-40767)GAC>GAG	p.D13589E	TTN_uc010zfh.1_Missense_Mutation_p.D7284E|TTN_uc010zfi.1_Missense_Mutation_p.D7217E|TTN_uc010zfj.1_Missense_Mutation_p.D7092E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14516							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)			TCTCTGGTGGGTCAGGTACCG	0.458			NA											129	175					0	0	0.01441	0	0
ZNF804A	91752	broad.mit.edu	37	2	185803031	185803031	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:185803031C>G	uc002uph.2	+	4	3502	c.2908C>G	c.(2908-2910)CTT>GTT	p.L970V		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	970						intracellular	zinc ion binding			ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						TAAATCCTATCTTTGCCATTA	0.388			NA											23	152					0	0	0.004656	0	0
FAM171B	165215	broad.mit.edu	37	2	187605026	187605026	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:187605026G>A	uc002ups.2	+	2	422	c.310G>A	c.(310-312)GAA>AAA	p.E104K	FAM171B_uc002upr.1_Missense_Mutation_p.E104K	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	104	Extracellular (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						AGCAGTTGTAGAAGTGTTTGT	0.383			NA											19	27					0	0	0.006122	0	0
ORC2L	4999	broad.mit.edu	37	2	201785816	201785816	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:201785816C>G	uc002uwr.2	-	14	1451	c.1194G>C	c.(1192-1194)CAG>CAC	p.Q398H	ORC2L_uc010zhj.1_Missense_Mutation_p.Q398H	NM_006190	NP_006181	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	398					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding				0						CTCTCAACATCTGGCTATCCA	0.323			NA											7	44					0	0	0.006214	0	0
SNRPB	6628	broad.mit.edu	37	20	2448373	2448373	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:2448373T>C	uc002wfz.1	-	2	198	c.35A>G	c.(34-36)CAT>CGT	p.H12R	SNRPB_uc002wga.1_Missense_Mutation_p.H12R|SNRPB_uc010zpv.1_5'UTR|SNRPB_uc002wgb.2_Missense_Mutation_p.H12R|SNRPB_uc010gan.2_Missense_Mutation_p.H12R	NM_198216	NP_937859	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptide B/B'	12					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding			ovary(1)	1						GTAATCAATATGCTGCAGCAT	0.517			NA											29	36					0	0	0.009535	0	0
TRMT6	51605	broad.mit.edu	37	20	5921749	5921749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:5921749C>A	uc002wmh.1	-	10	1374	c.1252G>T	c.(1252-1254)GGA>TGA	p.G418*	TRMT6_uc010zra.1_Nonsense_Mutation_p.G248*	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6	418					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			pancreas(1)	1						ATGACCCCTCCCCTCTCCCGC	0.483			NA											79	148					1.42074e-37	2.12071e-37	0.01441	1	0
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:29624093G>T	uc010ztl.1	+	1	58	c.26_splice	c.e1+1	p.R9_splice	FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron					Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.												0						CTGATTCCAGGTGAGCTTATG	0.289			NA											5	10					3.09899e-07	3.57845e-07	0.004482	1	0
HCK	3055	broad.mit.edu	37	20	30674477	30674477	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:30674477A>G	uc002wxh.2	+	9	1053	c.882A>G	c.(880-882)CCA>CCG	p.P294P	HCK_uc010gdy.2_Silent_p.P273P|HCK_uc002wxi.2_Silent_p.P272P	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	294	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CGATGAAGCCAGGGAGCATGT	0.577			NA											4	28					0	0	0.000602	0	0
NECAB3	63941	broad.mit.edu	37	20	32260229	32260229	+	Splice_Site	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:32260229C>A	uc002wzn.3	-	2	236	c.130_splice	c.e2-1	p.V44_splice	NECAB3_uc002wzm.3_Splice_Site_p.V44_splice|NECAB3_uc002wzo.3_Splice_Site|NECAB3_uc002wzp.3_Splice_Site|NECAB3_uc002wzq.3_Splice_Site_p.V44_splice|NECAB3_uc002wzr.3_Splice_Site|NECAB3_uc010geo.2_Splice_Site_p.V44_splice	NM_031232	NP_112509	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3						antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			lung(1)	1						TGCGGAAAACCTAGAGGACAA	0.627			NA											21	29					1.22574e-08	1.45378e-08	0.014323	1	0
RBM12	10137	broad.mit.edu	37	20	34242137	34242137	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:34242137G>A	uc002xdq.2	-	3	1340	c.1108C>T	c.(1108-1110)CGC>TGC	p.R370C	CPNE1_uc010zvj.1_5'Flank|CPNE1_uc002xde.2_Intron|CPNE1_uc002xdf.2_Intron|CPNE1_uc002xdg.2_Intron|CPNE1_uc010gfi.2_Intron|CPNE1_uc010gfj.2_Intron|CPNE1_uc002xdh.2_Intron|CPNE1_uc002xdi.2_Intron|CPNE1_uc002xdj.2_Intron|CPNE1_uc002xdk.2_Intron|CPNE1_uc002xdl.2_Intron|CPNE1_uc002xdm.2_Intron|CPNE1_uc010gfk.1_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdr.2_Missense_Mutation_p.R370C|RBM12_uc002xds.2_Missense_Mutation_p.R370C	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	370	RRM 1.					nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TCCACATAGCGTTGAATCATC	0.428			NA									OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	34	115					0	0	0.013726	0	0
FAM83D	81610	broad.mit.edu	37	20	37580937	37580937	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:37580937T>G	uc002xjg.2	+	4	1663	c.1622T>G	c.(1621-1623)CTG>CGG	p.L541R		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	511					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)				CCCAAGTACCTGGGCACCCCC	0.542			NA											7	36					0	0	0.001984	0	0
L3MBTL	26013	broad.mit.edu	37	20	42158990	42158990	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:42158990G>A	uc010zwh.1	+	10	1103	c.1057G>A	c.(1057-1059)GCC>ACC	p.A353T	L3MBTL_uc002xkl.2_Missense_Mutation_p.A285T|L3MBTL_uc002xkm.2_Missense_Mutation_p.A285T|L3MBTL_uc010ggl.2_Missense_Mutation_p.A285T|L3MBTL_uc002xkn.1_Missense_Mutation_p.A44T|L3MBTL_uc002xko.2_5'Flank	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	285	MBT 1.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTGGGTCAATGCCAACTCCCC	0.562			NA											20	77					0	0	0.007413	0	0
ZNF831	128611	broad.mit.edu	37	20	57782054	57782054	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:57782054G>A	uc002yan.2	+	3	3970	c.3970G>A	c.(3970-3972)GCA>ACA	p.A1324T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1324						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CCACCCTCCCGCACTTGAGGG	0.552			NA											5	153					0	0	0.000602	0	0
LAMA5	3911	broad.mit.edu	37	20	60884853	60884853	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:60884853C>T	uc002ycq.2	-	79	10934	c.10867G>A	c.(10867-10869)GCG>ACG	p.A3623T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3623	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCTCTGCGCGTCCACCTCC	0.667			NA											10	26					0	0	0.010729	0	0
OGFR	11054	broad.mit.edu	37	20	61438897	61438897	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:61438897G>C	uc002ydj.2	+	2	215	c.180G>C	c.(178-180)ATG>ATC	p.M60I	OGFR_uc002ydk.2_Missense_Mutation_p.M43I|OGFR_uc002ydl.2_5'UTR	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	60				DAGDEDEESEEPRAARPSSFQSRMTGSRNWRATRDMCRYRH NYP -> GARRALGVLGQPGGLQMRLPERHGGPQGSLCLMD PCCPLSLALQ (in Ref. 5).	regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity				0	Breast(26;3.65e-08)					AGTCCAGAATGACAGGGTCCA	0.617			NA											23	50					0	0	0.014323	0	0
SRMS	6725	broad.mit.edu	37	20	62172566	62172566	+	Silent	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:62172566G>C	uc002yfi.1	-	7	1304	c.1263C>G	c.(1261-1263)ACC>ACG	p.T421T		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory	421	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			stomach(1)|lung(1)	2	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACTGGCCATAGGTGAAAACCT	0.632			NA											18	184					0	0	0.006122	0	0
ZNF512B	57473	broad.mit.edu	37	20	62594447	62594447	+	Splice_Site	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr20:62594447C>A	uc002yhl.1	-	12	2022	c.1968_splice	c.e12+1	p.P656_splice		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGCCACTCACGGGGGCCGTG	0.617			NA											4	6					0.00024832	0.000268501	0.009096	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28212871	28212871	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr21:28212871C>G	uc002ymf.2	-	5	1844	c.1389G>C	c.(1387-1389)TTG>TTC	p.L463F		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	463	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		GCTTGTCCATCAAACATTCCC	0.478			NA											11	40					0	0	0.010729	0	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859623	31859623	+	Silent	SNP	C	C	T	rs149309849		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr21:31859623C>T	uc011acy.1	-	1	45	c.45G>A	c.(43-45)CTG>CTA	p.L15L		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	15						intermediate filament					0						AGCCATAGCCCAGTCTGCAGA	0.552			NA											63	95					0	0	0.01441	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067232	46067232	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr21:46067232C>A	uc002zfr.3	+	1	902	c.857C>A	c.(856-858)GCC>GAC	p.A286D	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198692	NP_941965	P60412	KR10B_HUMAN	keratin associated protein 10-11	286						keratin filament				ovary(1)	1						TCCCGCCTGGCCTGCTACAGC	0.642			NA											10	33					1.36491e-13	1.75489e-13	0.001855	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr22:29091841G>A	uc003adu.1	-	11	1188	c.1116C>T	c.(1114-1116)TCC>TCT	p.S372S	CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adw.1_Silent_p.S372S|CHEK2_uc003adx.1_Silent_p.S151S|CHEK2_uc003ady.1_Silent_p.S372S|CHEK2_uc003adz.1_Silent_p.S176S	NM_007194	NP_009125	O96017	CHK2_HUMAN	protein kinase CHK2 isoform a	372	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(1)		central_nervous_system(17)|stomach(1)|ovary(1)|lung(1)	20						CCAAAATCTTGGAGTGCCCAA	0.413			NA	F			breast 		Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer				4	53					0	0	0.001984	0	0
C22orf30	253143	broad.mit.edu	37	22	32072908	32072908	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr22:32072908C>T	uc003alo.1	-	6	5729	c.5673G>A	c.(5671-5673)CTG>CTA	p.L1891L		NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	hypothetical protein LOC253143	Error:Variant_position_missing_in_Q5THK1_after_alignment											0						GGCGTGAGGCCAGCAGTGGGT	0.622			NA											3	9					0	0	0.009096	0	0
SLC5A4	6527	broad.mit.edu	37	22	32621724	32621724	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr22:32621724G>C	uc003ami.2	-	12	1369	c.1367C>G	c.(1366-1368)ACA>AGA	p.T456R		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	456	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						AATTGATTCTGTGTAATGGAT	0.398			NA											8	22					0	0	0.006214	0	0
EFHB	151651	broad.mit.edu	37	3	19962031	19962031	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:19962031C>G	uc003cbl.3	-	2	1014	c.818G>C	c.(817-819)AGA>ACA	p.R273T	EFHB_uc003cbm.2_Missense_Mutation_p.R143T	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	273					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0						GGTTGCAACTCTGTAACCAAC	0.378			NA											12	36					0	0	0.013537	0	0
SGOL1	151648	broad.mit.edu	37	3	20216419	20216419	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:20216419T>G	uc003cbs.2	-	6	791	c.604A>C	c.(604-606)ATA>CTA	p.I202L	SGOL1_uc003cbr.2_Intron|SGOL1_uc010hfa.2_Intron|SGOL1_uc003cbt.2_Intron|SGOL1_uc003cbu.2_Missense_Mutation_p.I202L|SGOL1_uc003cbv.2_Intron|SGOL1_uc003cbw.2_Intron|SGOL1_uc003cbx.2_Intron|SGOL1_uc003cby.2_Intron|SGOL1_uc003cbz.2_Missense_Mutation_p.I202L|SGOL1_uc003cca.2_Missense_Mutation_p.I202L|SGOL1_uc003ccb.2_Intron|SGOL1_uc003ccc.2_Intron	NM_001012410	NP_001012410	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 isoform A2	202					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding				0						AACTGACATATACTGTTACAA	0.358			NA											14	63					0	0	0.001855	0	0
KIF9	64147	broad.mit.edu	37	3	47286388	47286388	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:47286388G>A	uc010hjp.2	-	16	2011	c.1407C>T	c.(1405-1407)CAC>CAT	p.H469H	KIF9_uc003cqx.2_Silent_p.H469H|KIF9_uc003cqy.2_Silent_p.H469H|KIF9_uc011bat.1_RNA	NM_001134878	NP_001128350	Q9HAQ2	KIF9_HUMAN	kinesin family member 9 isoform 2	469					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(1)	1		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CACCCACTAGGTGGCCATCAA	0.517	Colon(44;962 1147 15977 24541)		NA											11	44					0	0	0.010729	0	0
FOXP1	27086	broad.mit.edu	37	3	71161757	71161757	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:71161757T>C	uc003dol.2	-	3	535	c.212A>G	c.(211-213)CAG>CGG	p.Q71R	FOXP1_uc003dom.2_Missense_Mutation_p.Q71R|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.Q71R|FOXP1_uc003dop.2_Missense_Mutation_p.Q71R|FOXP1_uc003doq.1_Missense_Mutation_p.Q71R|FOXP1_uc003doj.2_5'UTR|FOXP1_uc003dok.2_5'UTR	NM_032682	NP_116071	Q9H334	FOXP1_HUMAN	forkhead box P1 isoform 1	71	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(1)|lung(1)	2		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGTTGCTGCTGAAGAAGGAG	0.408			NA	T	PAX5	ALL								15	96					0	0	0.006122	0	0
CD200R1	131450	broad.mit.edu	37	3	112648254	112648254	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:112648254C>A	uc003dzk.1	-	3	467	c.234G>T	c.(232-234)CTG>CTT	p.L78L	CD200R1_uc003dzj.1_Silent_p.L101L|CD200R1_uc011bhx.1_Silent_p.L56L|CD200R1_uc003dzl.1_Silent_p.L101L|CD200R1_uc003dzm.1_Silent_p.L78L	NM_170780	NP_740750	Q8TD46	MO2R1_HUMAN	CD200 receptor 1 isoform d	78	Ig-like V-type.|Extracellular (Potential).				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity	p.T78A(1)		ovary(2)|pancreas(1)	3						GCTGGCCTCTCAGGATTATTT	0.423			NA											15	64					2.35188e-11	2.92551e-11	0.006122	1	0
RPN1	6184	broad.mit.edu	37	3	128356933	128356934	+	Missense_Mutation	DNP	TG	TG	GA			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	TG	TG	-	-	TG	TG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:128356933_128356934TG>GA	uc003ekr.1	-	3	417_418	c.341_342CA>TC	c.(340-342)ACA>ATC	p.T114I	RPN1_uc011bkq.1_5'UTR	NM_002950	NP_002941	P04843	RPN1_HUMAN	ribophorin I precursor	114	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(114;0.189)		GGAGCTTGACTGTGAAGAATCT	0.446			NA	T	EVI1	AML								6	29					0	0	0.004672	0	0
Unknown	0	broad.mit.edu	37	3	129140321	129140321	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:129140321C>A	uc003emg.2	-	2	538	c.375G>T	c.(373-375)TGG>TGT	p.W125C		NM_207307	NP_997190			hypothetical protein LOC90288												NA						TGTTCTCCAGCCACCTCTTTA	0.562			NA											16	50					5.01169e-05	5.4967e-05	0.00499	1	0
MME	4311	broad.mit.edu	37	3	154884801	154884801	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:154884801G>T	uc010hvr.1	+	18	1982	c.1771G>T	c.(1771-1773)GAT>TAT	p.D591Y	MME_uc003fab.1_Missense_Mutation_p.D591Y|MME_uc003fac.1_Missense_Mutation_p.D591Y|MME_uc003fad.1_Missense_Mutation_p.D591Y|MME_uc003fae.1_Missense_Mutation_p.D591Y	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	591	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CCATGGCTTCGATGACAATGG	0.423			NA											31	52					7.61165e-28	1.07335e-27	0.003755	1	0
PLCH1	23007	broad.mit.edu	37	3	155210596	155210596	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:155210596T>A	uc011bok.1	-	17	2470	c.2193A>T	c.(2191-2193)AAA>AAT	p.K731N	PLCH1_uc011boj.1_Missense_Mutation_p.K731N|PLCH1_uc011bol.1_Missense_Mutation_p.K713N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	731	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGAGCTGCTTTTTGGGGTTGG	0.473			NA											10	71					0	0	0.001855	0	0
PDE6B	5158	broad.mit.edu	37	4	628571	628571	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:628571G>T	uc003gap.2	+	2	627	c.574G>T	c.(574-576)GCA>TCA	p.A192S	PDE6B_uc003gao.3_Missense_Mutation_p.A192S	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	192	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						GGTGATCATGGCAGTGAACAA	0.493	GBM(71;463 1194 9848 25922 46834)		NA											30	50					3.90053e-15	5.1894e-15	0.012213	1	0
WHSC1	7468	broad.mit.edu	37	4	1918692	1918692	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:1918692A>C	uc003gdz.3	+	4	1031	c.855A>C	c.(853-855)GAA>GAC	p.E285D	WHSC1_uc003geb.3_Missense_Mutation_p.E285D|WHSC1_uc003gec.3_Missense_Mutation_p.E285D|WHSC1_uc003ged.3_Missense_Mutation_p.E285D|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.E285D|WHSC1_uc003gdy.1_Missense_Mutation_p.E285D|WHSC1_uc010icd.1_Missense_Mutation_p.E285D|WHSC1_uc003gea.1_Missense_Mutation_p.E285D|WHSC1_uc010ice.1_Missense_Mutation_p.E285D|WHSC1_uc003geh.1_Missense_Mutation_p.E285D	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	285	PWWP 1.				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)		TAGCTTTTGAAGGAGAAGGAC	0.443			NA	T	IGH@	MM								18	35					0	0	0.006122	0	0
WHSC1	7468	broad.mit.edu	37	4	1918695	1918695	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:1918695A>G	uc003gdz.3	+	4	1034	c.858A>G	c.(856-858)GGA>GGG	p.G286G	WHSC1_uc003geb.3_Silent_p.G286G|WHSC1_uc003gec.3_Silent_p.G286G|WHSC1_uc003ged.3_Silent_p.G286G|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Silent_p.G286G|WHSC1_uc003gdy.1_Silent_p.G286G|WHSC1_uc010icd.1_Silent_p.G286G|WHSC1_uc003gea.1_Silent_p.G286G|WHSC1_uc010ice.1_Silent_p.G286G|WHSC1_uc003geh.1_Silent_p.G286G	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	286	PWWP 1.				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)		CTTTTGAAGGAGAAGGACAGT	0.443			NA	T	IGH@	MM								17	35					0	0	0.00499	0	0
EPHA5	2044	broad.mit.edu	37	4	66467497	66467497	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:66467497C>T	uc003hcy.2	-	3	965	c.772G>A	c.(772-774)GTG>ATG	p.V258M	EPHA5_uc003hcx.2_Missense_Mutation_p.V189M|EPHA5_uc003hcz.2_Missense_Mutation_p.V258M|EPHA5_uc011cah.1_Missense_Mutation_p.V258M|EPHA5_uc011cai.1_Missense_Mutation_p.V258M|EPHA5_uc003hda.2_Missense_Mutation_p.V258M	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	258	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						GAGCCTGACACTTCGAGCAAT	0.517			NA								TSP Lung(17;0.13)			4	29					0	0	0.009096	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361289	70361289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:70361289C>T	uc003hek.3	-	1	338	c.291G>A	c.(289-291)TGG>TGA	p.W97*	UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Nonsense_Mutation_p.W97*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	97					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						GAAGTTCTGCCCATCTCTTAA	0.343			NA											5	24					0	0	0.001168	0	0
SULT1B1	27284	broad.mit.edu	37	4	70599959	70599959	+	Silent	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:70599959G>C	uc003hen.2	-	5	697	c.399C>G	c.(397-399)GCC>GCG	p.A133A		NM_014465	NP_055280	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member	133	PAPS (By similarity).				3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol					0						AAACATCCTTGGCATTACGAG	0.363			NA											7	17					0	0	0.001984	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73185609	73185609	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:73185609A>G	uc003hgk.1	-	8	1211	c.1174T>C	c.(1174-1176)TCT>CCT	p.S392P		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	392	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAAAAGCAGATGAAAAACCA	0.408	NSCLC(168;1941 2048 2918 13048 43078)		NA											5	27					0	0	0.001168	0	0
DSPP	1834	broad.mit.edu	37	4	88533832	88533832	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:88533832G>T	uc003hqu.2	+	4	614	c.494G>T	c.(493-495)GGG>GTG	p.G165V		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein preproprotein	165					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			central_nervous_system(1)	1		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ACCCAAAATGGGGATGTTGGC	0.443			NA											11	26					1.58986e-06	1.7952e-06	0.008291	1	0
HERC5	51191	broad.mit.edu	37	4	89410318	89410318	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:89410318G>C	uc003hrt.2	+	16	2117	c.1964G>C	c.(1963-1965)AGT>ACT	p.S655T	HERC5_uc011cdm.1_Missense_Mutation_p.S293T	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	hect domain and RLD 5	655					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			ovary(4)|lung(3)|skin(2)	9		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTTCCTAGAGTAAAAAACAT	0.368	Esophageal Squamous(39;887 1012 34045 50514)		NA											15	29					0	0	0.00245	0	0
CENPE	1062	broad.mit.edu	37	4	104037847	104037847	+	Splice_Site	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:104037847C>A	uc003hxb.1	-	45	7420	c.7330_splice	c.e45-1	p.D2444_splice	CENPE_uc003hxc.1_Splice_Site_p.D2323_splice	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E						blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAACTTTGTCCtaaatttttt	0.299			NA											8	5					0.00307968	0.00327216	0.00308	1	0
FAT4	79633	broad.mit.edu	37	4	126370496	126370496	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:126370496G>C	uc003ifj.3	+	9	8325	c.8325G>C	c.(8323-8325)CAG>CAC	p.Q2775H	FAT4_uc011cgp.1_Missense_Mutation_p.Q1073H|FAT4_uc003ifi.1_Missense_Mutation_p.Q253H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2775	Cadherin 27.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GGTTTTCTCAGATATTTAGTG	0.388			NA											46	81					0	0	0.01441	0	0
USP38	84640	broad.mit.edu	37	4	144106691	144106691	+	Nonsense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:144106691G>T	uc003ijb.2	+	1	622	c.88G>T	c.(88-90)GAG>TAG	p.E30*	USP38_uc003ija.3_Nonsense_Mutation_p.E30*|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	30					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)					GGAATCGGCGGAGCACTGGCT	0.642			NA											6	50					3.59834e-05	3.96076e-05	0.001168	1	0
SMAD1	4086	broad.mit.edu	37	4	146463737	146463737	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:146463737A>G	uc003ikc.2	+	4	1078	c.662A>G	c.(661-663)GAT>GGT	p.D221G	SMAD1_uc003ikd.2_Missense_Mutation_p.D221G|SMAD1_uc010iov.2_Missense_Mutation_p.D221G|SMAD1_uc011cic.1_Intron	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Sma- and Mad-related protein 1	221					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)					TTTGTAGCTGATACGCCCCCA	0.468	Pancreas(182;1287 2092 10326 35158 50562)		NA											16	65					0	0	0.004007	0	0
TTC29	83894	broad.mit.edu	37	4	147796034	147796034	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:147796034C>T	uc003ikw.3	-	7	860	c.633G>A	c.(631-633)TTG>TTA	p.L211L	TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Silent_p.L237L|TTC29_uc010ipd.1_Silent_p.L211L	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	211	TPR 1.						binding				0	all_hematologic(180;0.151)					GCCCCTGTGTCAATTGATGGA	0.458			NA											4	30					0	0	0.001168	0	0
GPM6A	2823	broad.mit.edu	37	4	176572989	176572989	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr4:176572989C>A	uc003iuf.2	-	4	1341	c.537G>T	c.(535-537)CAG>CAT	p.Q179H	GPM6A_uc011ckj.1_Missense_Mutation_p.Q172H|GPM6A_uc003iug.2_Missense_Mutation_p.Q179H|GPM6A_uc003iuh.2_Missense_Mutation_p.Q168H	NM_201591	NP_963885	P51674	GPM6A_HUMAN	glycoprotein M6A isoform 2	179	Extracellular (Potential).					cell surface|integral to membrane					0		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ACTTACCAAACTGACGAAGGT	0.413			NA											36	56					2.75727e-19	3.76663e-19	0.004878	1	0
CDH18	1016	broad.mit.edu	37	5	19571797	19571797	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:19571797G>A	uc003jgc.2	-	7	1521	c.1144C>T	c.(1144-1146)CTA>TTA	p.L382L	CDH18_uc003jgd.2_Silent_p.L382L|CDH18_uc011cnm.1_Silent_p.L382L	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	382	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGGAAAATAGTGGTGGTTCA	0.428			NA											60	44					0	0	0.01441	0	0
CDH12	1010	broad.mit.edu	37	5	21783553	21783553	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:21783553C>A	uc010iuc.2	-	8	1765	c.1307G>T	c.(1306-1308)GGA>GTA	p.G436V	CDH12_uc011cno.1_Missense_Mutation_p.G396V|CDH12_uc003jgk.2_Missense_Mutation_p.G436V	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	436	Extracellular (Potential).|Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2						TCCTTCATTTCCATCTATTGT	0.368			NA								HNSCC(59;0.17)			54	196					7.50695e-29	1.06349e-28	0.01441	1	0
CARD6	84674	broad.mit.edu	37	5	40852497	40852497	+	Nonsense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:40852497A>T	uc003jmg.2	+	3	1138	c.1063A>T	c.(1063-1065)AAG>TAG	p.K355*		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	355					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5						TGAAGATAGCAAGGAGGATTT	0.463			NA											10	56					0	0	0.006214	0	0
EDIL3	10085	broad.mit.edu	37	5	83476214	83476214	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:83476214G>T	uc003kio.1	-	4	771	c.352C>A	c.(352-354)CAC>AAC	p.H118N	EDIL3_uc003kip.1_Missense_Mutation_p.H108N	NM_005711	NP_005702	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like	118					cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			skin(2)	2		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AACTTACTGTGCTGACAGTGA	0.318			NA											8	8					1.12685e-05	1.25845e-05	0.004482	1	0
DMXL1	1657	broad.mit.edu	37	5	118468905	118468905	+	Nonsense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:118468905C>G	uc003ksd.2	+	11	1575	c.1394C>G	c.(1393-1395)TCA>TGA	p.S465*	DMXL1_uc010jcl.1_Nonsense_Mutation_p.S465*|DMXL1_uc003ksc.1_Nonsense_Mutation_p.S465*	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	465										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTACCAAACTCAAGTTTTACA	0.348			NA											27	91					0	0	0.003954	0	0
FTMT	94033	broad.mit.edu	37	5	121188315	121188315	+	Silent	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:121188315G>T	uc003kss.2	+	1	666	c.657G>T	c.(655-657)GGG>GGT	p.G219G		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	219	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGAAGATGGGGGCCCCGGATG	0.512			NA											39	101					8.16277e-20	1.12009e-19	0.006999	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573212	140573212	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:140573212A>T	uc003lix.2	+	1	1261	c.1087A>T	c.(1087-1089)ACG>TCG	p.T363S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	protocadherin beta 10 precursor	363	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCTGAGACGCCGCTGGC	0.413			NA											26	58					0	0	0.003954	0	0
GPR151	134391	broad.mit.edu	37	5	145895386	145895386	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:145895386C>T	uc003lod.1	-	1	291	c.291G>A	c.(289-291)ACG>ACA	p.T97T		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	97	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAGTACGCCGTAGCTCGGA	0.507	Pancreas(78;420 1386 18535 37114 49710)		NA											19	91					0	0	0.010504	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148691741	148691741	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:148691741C>T	uc003lqh.2	+	9	1125	c.994C>T	c.(994-996)CTC>TTC	p.L332F	AFAP1L1_uc003lqg.3_Missense_Mutation_p.L332F|AFAP1L1_uc010jgy.2_Missense_Mutation_p.L332F	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	332							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCCAGTCCTCCTGTGCAA	0.592			NA											23	201					0	0	0.005443	0	0
PDE6A	5145	broad.mit.edu	37	5	149324039	149324039	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:149324039C>A	uc003lrg.3	-	1	318	c.198G>T	c.(196-198)CGG>CGT	p.R66R		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	66					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCTGAAAGTCCCGCAGGAGAT	0.532			NA											26	32					3.73148e-12	4.66054e-12	0.007291	1	0
CLINT1	9685	broad.mit.edu	37	5	157216486	157216486	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:157216486G>A	uc003lxj.1	-	11	1606	c.1416C>T	c.(1414-1416)ACC>ACT	p.T472T	CLINT1_uc003lxg.1_Silent_p.T9T|CLINT1_uc003lxh.1_Silent_p.T46T|CLINT1_uc003lxi.1_Silent_p.T472T|CLINT1_uc011ddv.1_Silent_p.T490T	NM_014666	NP_055481	Q14677	EPN4_HUMAN	epsin 4	472					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			ovary(2)|pancreas(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAGAGGGCAAGGTTTTGCTGA	0.448	Colon(22;427 587 2170 6147 14291)		NA											35	100					0	0	0.006999	0	0
DOCK2	1794	broad.mit.edu	37	5	169454937	169454937	+	Missense_Mutation	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:169454937A>T	uc003maf.2	+	34	3532	c.3452A>T	c.(3451-3453)CAG>CTG	p.Q1151L	DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.Q643L	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1151	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			ovary(5)|pancreas(2)	7	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTACATGCAGCTCCTGGAG	0.537			NA											15	57					0	0	0.004007	0	0
HRH2	3274	broad.mit.edu	37	5	175110355	175110355	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:175110355G>C	uc003mdd.2	+	1	1892	c.119G>C	c.(118-120)TGT>TCT	p.C40S	HRH2_uc003mdc.3_Missense_Mutation_p.C40S	NM_022304	NP_071640	P25021	HRH2_HUMAN	histamine receptor H2 isoform 2	40	Helical; Name=1; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			ovary(1)	1	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GTGGTCGTCTGTCTGGCCGTG	0.592			NA											35	155					0	0	0.003755	0	0
PROP1	5626	broad.mit.edu	37	5	177421211	177421211	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:177421211G>T	uc003mif.1	-	2	547	c.238C>A	c.(238-240)CAG>AAG	p.Q80K		NM_006261	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	80	Homeobox.				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCCAACTGCACTGGGCTG	0.667			NA											27	54					2.44723e-14	3.22781e-14	0.004656	1	0
TFAP2A	7020	broad.mit.edu	37	6	10402725	10402725	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:10402725C>A	uc003myr.2	-	5	1135	c.883G>T	c.(883-885)GGA>TGA	p.G295*	TFAP2A_uc003myq.2_Nonsense_Mutation_p.G289*|TFAP2A_uc003mys.2_RNA|TFAP2A_uc011dih.1_Missense_Mutation_p.D295Y|TFAP2A_uc003myt.2_Nonsense_Mutation_p.G291*|TFAP2A_uc003myu.1_Missense_Mutation_p.G295C	NM_003220	NP_003211	P05549	AP2A_HUMAN	transcription factor AP-2 alpha isoform a	295	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				ATTCGCTTACCCTCTACTAGT	0.418			NA											17	49					8.34094e-07	9.4882e-07	0.008871	1	0
COL11A2	1302	broad.mit.edu	37	6	33143435	33143435	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:33143435G>A	uc003ocx.1	-	30	2520	c.2292C>T	c.(2290-2292)TCC>TCT	p.S764S	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Silent_p.S678S|COL11A2_uc003ocz.1_Silent_p.S657S	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	764	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5						CCTCTCCCCTGGAACCAGGGA	0.637	Melanoma(1;90 116 3946 5341 17093)		NA											18	50					0	0	0.006122	0	0
KIFC1	3833	broad.mit.edu	37	6	33371649	33371649	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:33371649C>A	uc003oef.3	+	6	949	c.499C>A	c.(499-501)CTT>ATT	p.L167I	KIFC1_uc011drf.1_Missense_Mutation_p.L159I	NM_002263	NP_002254	Q9BW19	KIFC1_HUMAN	kinesin family member C1	167	Potential.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity				0						GAACCAGCAGCTTCAGGACCA	0.557			NA											10	107					0.00829132	0.00874877	0.008291	1	0
DNAH8	1769	broad.mit.edu	37	6	38702281	38702281	+	Translation_Start_Site	SNP	A	A	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:38702281A>T	uc003ooe.1	+	3	591	c.-9A>T	c.(-11--7)AAAGG>AATGG		DNAH8_uc003ood.1_Missense_Mutation_p.K214N	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						GAGCAACTAAAGGGGCAAAAA	0.363			NA											36	61					0	0	0.005524	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039538	55039538	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:55039538A>G	uc003pcl.2	+	1	468	c.153A>G	c.(151-153)AAA>AAG	p.K51K	HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzu.1_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	51	Extracellular (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCACCCGAAAGAATATGAGT	0.557			NA											28	100					0	0	0.00632	0	0
BVES	11149	broad.mit.edu	37	6	105564592	105564592	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:105564592G>T	uc003pqw.2	-	6	957	c.800C>A	c.(799-801)CCC>CAC	p.P267H	BVES_uc003pqx.2_Missense_Mutation_p.P267H|BVES_uc003pqy.2_Missense_Mutation_p.P267H	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	267	Cytoplasmic (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATTTAAGGTGGGATCATTCAA	0.274			NA											13	30					4.3838e-07	5.02413e-07	0.001855	1	0
PHACTR2	9749	broad.mit.edu	37	6	144086516	144086516	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:144086516A>G	uc003qjq.3	+	6	910	c.780A>G	c.(778-780)ACA>ACG	p.T260T	PHACTR2_uc010khh.2_Silent_p.T180T|PHACTR2_uc010khi.2_Silent_p.T271T|PHACTR2_uc003qjr.3_Silent_p.T191T	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	260							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AAGCAGGGACAGTGGGGACCA	0.488	Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)		NA											23	59					0	0	0.014323	0	0
SYNE1	23345	broad.mit.edu	37	6	152577782	152577782	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:152577782T>C	uc010kiw.2	-	102	19693	c.19091A>G	c.(19090-19092)GAG>GGG	p.E6364G	SYNE1_uc010kiv.2_Missense_Mutation_p.E888G|SYNE1_uc003qos.3_Missense_Mutation_p.E888G|SYNE1_uc003qot.3_Missense_Mutation_p.E6293G|SYNE1_uc003qou.3_Missense_Mutation_p.E6364G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6364	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGATGAAACCTCCTCGAAGGC	0.468			NA								HNSCC(10;0.0054)			9	41					0	0	0.004482	0	0
MLLT4	4301	broad.mit.edu	37	6	168265254	168265254	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:168265254G>T	uc003qwd.2	+	2	271	c.129G>T	c.(127-129)ATG>ATT	p.M43I	MLLT4_uc003qwb.1_Missense_Mutation_p.M43I|MLLT4_uc003qwc.1_Missense_Mutation_p.M43I	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	43	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATGGAGTGATGAGATTTTATT	0.358			NA	T	MLL	AL								77	218					3.20846e-33	4.63109e-33	0.01441	1	0
TNRC18	84629	broad.mit.edu	37	7	5410417	5410417	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:5410417C>T	uc003soi.3	-	11	4157	c.3808G>A	c.(3808-3810)GTG>ATG	p.V1270M		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1270							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTCCACCACGGGCACCGCC	0.701			NA											4	9					0	0	0.009096	0	0
PDE1C	5137	broad.mit.edu	37	7	31862700	31862701	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:31862700_31862701GG>TA	uc003tcm.1	-	14	2037_2038	c.1568_1569CC>TA	c.(1567-1569)GCC>GTA	p.A523V	PDE1C_uc003tcn.1_Missense_Mutation_p.A523V|PDE1C_uc003tco.1_Missense_Mutation_p.A583V|PDE1C_uc003tcr.2_Missense_Mutation_p.A523V|PDE1C_uc003tcs.2_Missense_Mutation_p.A523V	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	523					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			TGGGTACCTTGGCCCTCCATCT	0.455			NA											28	89					0	0	0.004672	0	0
EEPD1	80820	broad.mit.edu	37	7	36338768	36338768	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:36338768G>A	uc003tfa.2	+	8	2303	c.1663G>A	c.(1663-1665)GGG>AGG	p.G555R		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	555					DNA repair		DNA binding				0						GAACGGCAGCGGGGTGGCCTT	0.592			NA											18	29					0	0	0.007413	0	0
PKD1L1	168507	broad.mit.edu	37	7	47970761	47970761	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:47970761T>A	uc003tny.1	-	6	677	c.677A>T	c.(676-678)CAG>CTG	p.Q226L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	226	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGAGCTGGTCTGAGTGGGTCT	0.607			NA											18	43					0	0	0.00278	0	0
HGF	3082	broad.mit.edu	37	7	81336617	81336617	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:81336617A>C	uc003uhl.2	-	14	1770	c.1605T>G	c.(1603-1605)TGT>TGG	p.C535W	HGF_uc003uhm.2_Missense_Mutation_p.C530W	NM_000601	NP_000592	P14210	HGF_HUMAN	hepatocyte growth factor isoform 1	535	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			ovary(2)|central_nervous_system(2)	4						GAGAAGGGAAACACTGTCGTG	0.338			NA											13	25					0	0	0.001855	0	0
PCLO	27445	broad.mit.edu	37	7	82389981	82389981	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:82389981G>A	uc003uhx.2	-	24	15551	c.15262C>T	c.(15262-15264)CTA>TTA	p.L5088L		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	5011	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCAGGACTTAGACTGAATCGA	0.323			NA											19	40					0	0	0.012319	0	0
PCLO	27445	broad.mit.edu	37	7	82476456	82476456	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:82476456G>A	uc003uhx.2	-	11	14051	c.13762C>T	c.(13762-13764)CTG>TTG	p.L4588L	PCLO_uc003uhv.2_Silent_p.L4588L|PCLO_uc003uht.1_Silent_p.L39L|PCLO_uc003uhu.1_Intron	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4476	PDZ.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						AAAACTCACAGTCTTACACAT	0.353			NA											3	13					0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82544659	82544659	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:82544659C>A	uc003uhx.2	-	7	12932	c.12643G>T	c.(12643-12645)GAT>TAT	p.D4215Y	PCLO_uc003uhv.2_Missense_Mutation_p.D4215Y|PCLO_uc010lec.2_Missense_Mutation_p.D1180Y	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	4146					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTTGAATAATCAGGTTCAAGG	0.373			NA											13	26					0.00244969	0.00261187	0.00245	1	0
LMTK2	22853	broad.mit.edu	37	7	97784092	97784092	+	Missense_Mutation	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:97784092C>T	uc003upd.1	+	5	766	c.473C>T	c.(472-474)ACG>ATG	p.T158M		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2 precursor	158	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1)	16	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGATTTACACGGGCACTAGC	0.388			NA											27	90					0	0	0.013726	0	0
MUC17	140453	broad.mit.edu	37	7	100680373	100680373	+	Silent	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:100680373T>A	uc003uxp.1	+	3	5729	c.5676T>A	c.(5674-5676)GCT>GCA	p.A1892A	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1892	Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.					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)					CAACTCCCGCTGTCACCAGCA	0.512			NA											119	268					0	0	0.01441	0	0
SH2B2	10603	broad.mit.edu	37	7	101957824	101957824	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:101957824G>A	uc011kko.1	+	5	1531	c.1486G>A	c.(1486-1488)GAG>AAG	p.E496K		NM_020979	NP_066189	O14492	SH2B2_HUMAN	SH2B adaptor protein 2	453	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity				0						TCGGCCTGGGGAGTACGTGCT	0.657			NA											6	10					0	0	0.00308	0	0
RELN	5649	broad.mit.edu	37	7	103131239	103131239	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:103131239G>T	uc003vca.2	-	59	9641	c.9481C>A	c.(9481-9483)CCT>ACT	p.P3161T	RELN_uc010liz.2_Missense_Mutation_p.P3161T	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	3161					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGAGGAAGGAAGGCACTGG	0.448	NSCLC(146;835 1944 15585 22231 52158)		NA											13	31					4.3838e-07	5.02413e-07	0.001855	1	0
RELN	5649	broad.mit.edu	37	7	103301870	103301870	+	Missense_Mutation	SNP	G	G	T	rs111409626		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:103301870G>T	uc003vca.2	-	12	1554	c.1394C>A	c.(1393-1395)TCC>TAC	p.S465Y	RELN_uc010liz.2_Missense_Mutation_p.S465Y	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	465					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGTGTCCATGGATGGAGTGCA	0.448	NSCLC(146;835 1944 15585 22231 52158)		NA											6	45					0.00198382	0.00212255	0.001984	1	0
OPN1SW	611	broad.mit.edu	37	7	128415840	128415840	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:128415840C>G	uc003vnt.3	-	1	5	c.5G>C	c.(4-6)AGA>ACA	p.R2T		NM_001708	NP_001699	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	2	Extracellular (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity				0						CGACATTTTTCTCATGGATGC	0.507			NA											4	19					0	0	0.009096	0	0
TRPV6	55503	broad.mit.edu	37	7	142573427	142573427	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:142573427G>T	uc003wbx.1	-	8	1132	c.916C>A	c.(916-918)CAG>AAG	p.Q306K	TRPV6_uc003wbw.1_Missense_Mutation_p.Q92K|TRPV6_uc010lou.1_Missense_Mutation_p.Q177K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	306	Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)					TCCAGGATCTGGCGAGCCTGC	0.602			NA											37	56					3.76114e-14	4.89748e-14	0.004289	1	0
CLCN1	1180	broad.mit.edu	37	7	143048757	143048757	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:143048757A>G	uc003wcr.1	+	23	2753	c.2666A>G	c.(2665-2667)AAC>AGC	p.N889S	CLCN1_uc011ktc.1_Missense_Mutation_p.N501S	NM_000083	NP_000074	P35523	CLCN1_HUMAN	chloride channel 1, skeletal muscle	889	Cytoplasmic (By similarity).				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Melanoma(164;0.205)					AGCTTCCGGAACACGACTTCA	0.562			NA											14	37					0	0	0.001855	0	0
SSPO	23145	broad.mit.edu	37	7	149494420	149494420	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:149494420C>T	uc010lpk.2	+	47	6891	c.6891C>T	c.(6889-6891)CAC>CAT	p.H2297H		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2297					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTGCTGCACTGGCCCAGGG	0.657			NA											18	36					0	0	0.006122	0	0
MLL3	58508	broad.mit.edu	37	7	151851382	151851382	+	Missense_Mutation	SNP	T	T	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:151851382T>G	uc003wla.2	-	47	12328	c.12109A>C	c.(12109-12111)ATT>CTT	p.I4037L	MLL3_uc003wkz.2_Missense_Mutation_p.I3155L|MLL3_uc003wkx.2_Missense_Mutation_p.I195L|MLL3_uc003wky.2_Missense_Mutation_p.I1601L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4037					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGAATTGGAATGATGGGGGAC	0.443	Colon(68;14 1149 1884 27689 34759)		NA	N		medulloblastoma								23	55					0	0	0.014323	0	0
MLL3	58508	broad.mit.edu	37	7	151962183	151962183	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:151962183A>C	uc003wla.2	-	8	1343	c.1124T>G	c.(1123-1125)GTT>GGT	p.V375G		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	375	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TAATGGAGTAACCGCTATATC	0.448	Colon(68;14 1149 1884 27689 34759)		NA	N		medulloblastoma								5	352					0	0	0.001168	0	0
MLL3	58508	broad.mit.edu	37	7	151962209	151962209	+	Nonsense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr7:151962209A>C	uc003wla.2	-	8	1317	c.1098T>G	c.(1096-1098)TAT>TAG	p.Y366*		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	366	PHD-type 1.|RING-type.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.Y366S(1)		large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACATTCCATGATAGTGCTGAC	0.448	Colon(68;14 1149 1884 27689 34759)		NA	N		medulloblastoma								5	292					0	0	0.004482	0	0
FGF17	8822	broad.mit.edu	37	8	21905620	21905620	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:21905620G>A	uc003xag.2	+	5	523	c.511G>A	c.(511-513)GAG>AAG	p.E171K	FGF17_uc003xah.2_Missense_Mutation_p.E160K|FGF17_uc003xai.2_Missense_Mutation_p.E194K	NM_003867	NP_003858	O60258	FGF17_HUMAN	fibroblast growth factor 17 precursor	171					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development	extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		GAACCAGCGCGAGGCCCACTT	0.682			NA											7	14					0	0	0.00308	0	0
TRPA1	8989	broad.mit.edu	37	8	72964964	72964964	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:72964964C>A	uc003xza.2	-	14	1856	c.1681G>T	c.(1681-1683)GCC>TCC	p.A561S	uc011lff.1_RNA|uc003xyy.2_RNA	NM_007332	NP_015628	O75762	TRPA1_HUMAN	ankyrin-like protein 1	561	Cytoplasmic (Potential).|ANK 14.					integral to plasma membrane				ovary(4)|lung(1)|kidney(1)	6			Epithelial(68;0.223)		Menthol(DB00825)	ACGGCTTTGGCGTGGCCTTCC	0.468			NA											75	98					7.62596e-35	1.11653e-34	0.01441	1	0
LRRCC1	85444	broad.mit.edu	37	8	86048051	86048051	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:86048051A>C	uc003ycw.2	+	14	2336	c.2182A>C	c.(2182-2184)ATT>CTT	p.I728L	LRRCC1_uc010maa.1_Missense_Mutation_p.I429L|LRRCC1_uc003ycx.2_Missense_Mutation_p.I635L|LRRCC1_uc003ycy.2_Missense_Mutation_p.I708L	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	728					cell division|mitosis	centriole|nucleus					0						TGAAATTTTAATTGAAGATGA	0.284			NA											7	108					0	0	0.001984	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229981	87229981	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:87229981T>A	uc003ydq.1	-	3	995	c.897A>T	c.(895-897)TTA>TTT	p.L299F	SLC7A13_uc003ydr.1_Missense_Mutation_p.L290F	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	299	Helical; Name=8; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						GGTTGCTAAATAATGAGGTAG	0.373			NA											5	272					0	0	0.000602	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242275	87242275	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:87242275C>A	uc003ydq.1	-	1	330	c.232G>T	c.(232-234)GGA>TGA	p.G78*	SLC7A13_uc003ydr.1_Nonsense_Mutation_p.G78*	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	78	Cytoplasmic (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						TATTGAGCTCCACTGCATGGG	0.493			NA											111	43					9.69585e-32	1.38642e-31	0.01441	1	0
RUNX1T1	862	broad.mit.edu	37	8	92998504	92998504	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:92998504G>T	uc003yfd.2	-	8	1211	c.1127C>A	c.(1126-1128)ACC>AAC	p.T376N	RUNX1T1_uc003yfc.1_Missense_Mutation_p.T349N|RUNX1T1_uc003yfe.1_Missense_Mutation_p.T339N|RUNX1T1_uc010mao.2_Missense_Mutation_p.T349N|RUNX1T1_uc011lgi.1_Missense_Mutation_p.T387N|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.T339N	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	376	Important for oligomerization.				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)			CCTTAGTACGGTGAGAGATCG	0.453			NA											42	378					5.20006e-24	7.23281e-24	0.011902	1	0
SNX31	169166	broad.mit.edu	37	8	101629862	101629862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:101629862C>A	uc003yjr.2	-	5	569	c.418G>T	c.(418-420)GAA>TAA	p.E140*	SNX31_uc011lhb.1_Nonsense_Mutation_p.E41*	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	140					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGGACTCTTTCAGCAGTGTCT	0.403			NA											243	57					2.05815e-117	3.13331e-117	0.01441	1	0
FAM135B	51059	broad.mit.edu	37	8	139380162	139380162	+	Missense_Mutation	SNP	A	A	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:139380162A>C	uc003yuy.2	-	2	236	c.65T>G	c.(64-66)CTC>CGC	p.L22R	FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	22										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)			TCTCTGAAAGAGATCCACATT	0.333			NA								HNSCC(54;0.14)			40	192					0	0	0.00874	0	0
GPR20	2843	broad.mit.edu	37	8	142367203	142367203	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:142367203G>A	uc003ywf.2	-	2	910	c.821C>T	c.(820-822)ACG>ATG	p.T274M		NM_005293	NP_005284	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	274	Extracellular (Potential).					integral to plasma membrane	G-protein coupled receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACGAGGCTCGTGTGGTGTGG	0.637			NA											28	187					0	0	0.007291	0	0
ZNF7	7553	broad.mit.edu	37	8	146067491	146067491	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr8:146067491C>A	uc003zeg.3	+	5	1136	c.999C>A	c.(997-999)CCC>CCA	p.P333P	ZNF7_uc010mge.2_Silent_p.P344P|ZNF7_uc011lln.1_Silent_p.P237P|ZNF7_uc003zeh.2_Intron|ZNF7_uc003zek.3_Silent_p.P237P|COMMD5_uc003zel.1_Intron	NM_003416	NP_003407	P17097	ZNF7_HUMAN	zinc finger protein 7	333					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAGAGAGGCCCTATGGTTGTC	0.542			NA											4	180					0.00909568	0.00946693	0.009096	1	0
PSIP1	11168	broad.mit.edu	37	9	15468839	15468839	+	Missense_Mutation	SNP	T	T	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:15468839T>C	uc003zlv.3	-	14	1539	c.1209A>G	c.(1207-1209)ATA>ATG	p.I403M	PSIP1_uc003zlw.3_Missense_Mutation_p.I403M	NM_033222	NP_150091	O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1 isoform 2	403					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(1)	1				GBM - Glioblastoma multiforme(50;2.38e-06)		TGAATCGCCGTATCTGAGAAA	0.299			NA											18	19					0	0	0.008871	0	0
SLC24A2	25769	broad.mit.edu	37	9	19577011	19577011	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:19577011C>A	uc003zoa.1	-	5	1201	c.1139G>T	c.(1138-1140)AGA>ATA	p.R380I	SLC24A2_uc003zob.1_Missense_Mutation_p.R363I	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	380	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGCCTTTTCTCTGAACCTCCC	0.517			NA											27	57					3.80469e-20	5.24431e-20	0.009535	1	0
NTRK2	4915	broad.mit.edu	37	9	87635146	87635146	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:87635146T>A	uc004aoa.1	+	19	3088	c.2150T>A	c.(2149-2151)ATT>AAT	p.I717N	NTRK2_uc004anz.1_Missense_Mutation_p.I733N	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	717	Protein kinase.|Cytoplasmic (Potential).				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1)	16						ATGCTGCCCATTCGCTGGATG	0.582			NA								TSP Lung(25;0.17)			37	85					0	0	0.00874	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432614	104432614	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:104432614G>T	uc004bbp.1	-	3	2681	c.2080C>A	c.(2080-2082)CTG>ATG	p.L694M	GRIN3A_uc004bbq.1_Missense_Mutation_p.L694M	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	694	Helical; (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CATTCATACAGAGTGAGGAAG	0.483			NA											50	89					9.40368e-32	1.35095e-31	0.01441	1	0
OR13C2	392376	broad.mit.edu	37	9	107367545	107367545	+	Missense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:107367545G>C	uc011lvq.1	-	1	364	c.364C>G	c.(364-366)CGC>GGC	p.R122G		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GCCACATAGCGGTCAAAGGCC	0.517			NA											32	122					0	0	0.006999	0	0
MUSK	4593	broad.mit.edu	37	9	113562828	113562828	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:113562828C>A	uc004bey.2	+	14	2268	c.2170C>A	c.(2170-2172)CGA>AGA	p.R724R	MUSK_uc004bez.1_Silent_p.R304R	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	724	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6						GTTTGTTCACCGAGATTTAGC	0.557			NA											67	171					2.3441e-25	3.27532e-25	0.01441	1	0
NUP188	23511	broad.mit.edu	37	9	131711500	131711500	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr9:131711500G>T	uc004bws.1	+	2	87	c.65G>T	c.(64-66)GGA>GTA	p.G22V	NUP188_uc004bwq.1_Missense_Mutation_p.G24V|DOLK_uc004bwr.2_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	22					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						ATTCTGCTTGGAAGGTCAGCT	0.408			NA											19	39					1.10513e-12	1.4032e-12	0.014323	1	0
MED14	9282	broad.mit.edu	37	X	40568708	40568708	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:40568708C>G	uc004dex.3	-	10	1317	c.1177G>C	c.(1177-1179)GAC>CAC	p.D393H	MED14_uc010nhe.1_Missense_Mutation_p.D277H	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	393	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						GATAAGTGGTCGATCTGCATA	0.353			NA											12	22					0	0	0.001855	0	0
USP51	158880	broad.mit.edu	37	X	55513730	55513730	+	Nonsense_Mutation	SNP	G	G	C			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:55513730G>C	uc004dun.1	-	2	1722	c.1643C>G	c.(1642-1644)TCA>TGA	p.S548*	USP51_uc011moo.1_Nonsense_Mutation_p.S252*	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	548					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3						GTCTGTAAGTGAGGGGATTCC	0.498			NA											15	10					0	0	0.00245	0	0
AR	367	broad.mit.edu	37	X	66765228	66765228	+	Silent	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:66765228A>G	uc004dwu.1	+	1	1355	c.240A>G	c.(238-240)CAA>CAG	p.Q80Q	AR_uc011mpd.1_Silent_p.Q80Q|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Silent_p.Q80Q	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	agcagcagcaagagactagcc	0.308			NA							Androgen_Insensitivity_Syndrome				12	16					0	0	0.010729	0	0
NLGN3	54413	broad.mit.edu	37	X	70389453	70389453	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:70389453G>T	uc004dzb.2	+	7	2297	c.1993G>T	c.(1993-1995)GGG>TGG	p.G665W	NLGN3_uc004dzc.2_Missense_Mutation_p.G548W|NLGN3_uc011mps.1_Missense_Mutation_p.G645W|NLGN3_uc004dze.2_Missense_Mutation_p.G483W	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	685	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)					GAATGCCCAGGGGTCCTGGAA	0.622	Esophageal Squamous(103;760 1488 16849 22250 40351)		NA											31	20					4.3181e-19	5.87261e-19	0.013726	1	0
OGT	8473	broad.mit.edu	37	X	70779444	70779444	+	Missense_Mutation	SNP	T	T	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:70779444T>A	uc004eaa.1	+	14	1985	c.1768T>A	c.(1768-1770)TGT>AGT	p.C590S	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.C580S|OGT_uc004eac.2_Missense_Mutation_p.C451S|OGT_uc004ead.2_Missense_Mutation_p.C209S	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	590					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					TCAGGTGTTCTGTTATGCCCT	0.433			NA											15	23					0	0	0.00245	0	0
OGT	8473	broad.mit.edu	37	X	70783197	70783197	+	Missense_Mutation	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:70783197G>A	uc004eaa.1	+	18	2501	c.2284G>A	c.(2284-2286)GGA>AGA	p.G762R	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.G752R|OGT_uc004eac.2_Missense_Mutation_p.G623R|OGT_uc004ead.2_Missense_Mutation_p.G381R	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	762					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					TCCTGATGGAGGAGACAATGC	0.363			NA											25	85					0	0	0.008361	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650019	75650019	+	Missense_Mutation	SNP	C	C	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:75650019C>G	uc004ecm.1	+	1	1903	c.1696C>G	c.(1696-1698)CCT>GCT	p.P566A		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	566	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6						CAAACTGGGACCTGTGCCCTT	0.488			NA											15	20					0	0	0.00245	0	0
ATP7A	538	broad.mit.edu	37	X	77267089	77267089	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:77267089C>A	uc004ecx.3	+	9	2250	c.2090C>A	c.(2089-2091)TCT>TAT	p.S697Y	ATP7A_uc004ecw.2_3'UTR	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	697	Extracellular (Potential).				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity				0						AACCTTCATTCTTCTATGTTC	0.388			NA											129	194					3.33775e-37	4.93406e-37	0.01441	1	0
CYLC1	1538	broad.mit.edu	37	X	83129064	83129064	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:83129064C>A	uc004eei.1	+	4	1369	c.1348C>A	c.(1348-1350)CCG>ACG	p.P450T	CYLC1_uc004eeh.1_Missense_Mutation_p.P449T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	450	5.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5						TGACTCTGAACCGAAGGGAGA	0.343			NA											10	24					2.17888e-05	2.41571e-05	0.006214	1	0
HDX	139324	broad.mit.edu	37	X	83724259	83724259	+	Missense_Mutation	SNP	G	G	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:83724259G>T	uc004eek.1	-	3	581	c.472C>A	c.(472-474)CAA>AAA	p.Q158K	HDX_uc011mqv.1_Missense_Mutation_p.Q158K|HDX_uc004eel.1_Missense_Mutation_p.Q100K	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGTGCTACTTGTCTTTGGACA	0.358	Pancreas(53;231 1169 36156 43751 51139)		NA											24	157					7.87624e-14	1.01693e-13	0.00278	1	0
RAB40A	142684	broad.mit.edu	37	X	102755508	102755508	+	Silent	SNP	G	G	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:102755508G>A	uc004ekk.2	-	3	519	c.177C>T	c.(175-177)GAC>GAT	p.D59D		NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	59					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0						CCCGCTGGCCGTCCAGCAGGA	0.587			NA											21	173					0	0	0.007291	0	0
HTR2C	3358	broad.mit.edu	37	X	113965991	113965991	+	Silent	SNP	C	C	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:113965991C>T	uc004epu.1	+	4	1052	c.324C>T	c.(322-324)CCC>CCT	p.P108P	HTR2C_uc010nqc.1_Silent_p.P108P|HTR2C_uc004epv.1_Silent_p.P108P	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	108	Helical; Name=2; (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTGTCATGCCCCTGTCTCTCC	0.378			NA											47	79					0	0	0.01441	0	0
BCORL1	63035	broad.mit.edu	37	X	129155080	129155080	+	Missense_Mutation	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:129155080C>A	uc004evb.1	+	5	3676	c.3562C>A	c.(3562-3564)CCG>ACG	p.P1188T	BCORL1_uc010nrd.1_Missense_Mutation_p.P1090T	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1188					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7						GCCGACAAAGCCGGAGTCCCA	0.632			NA											26	29					1.17739e-12	1.48877e-12	0.005443	1	0
MST4	51765	broad.mit.edu	37	X	131197496	131197496	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:131197496C>A	uc004ewk.1	+	4	610	c.309C>A	c.(307-309)GGC>GGA	p.G103G	MST4_uc004ewl.1_Silent_p.G26G|MST4_uc011mux.1_Silent_p.G125G|MST4_uc010nrj.1_Silent_p.G103G|MST4_uc004ewm.1_Silent_p.G103G	NM_016542	NP_057626	Q9P289	MST4_HUMAN	serine/threonine protein kinase MST4 isoform 1	103	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(192;0.000127)					AATACCTGGGCGGTGGTTCAG	0.318			NA											52	65					1.73933e-33	2.52244e-33	0.01441	1	0
SLITRK2	84631	broad.mit.edu	37	X	144905434	144905434	+	Silent	SNP	C	C	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:144905434C>A	uc004fcd.2	+	5	2481	c.1491C>A	c.(1489-1491)ACC>ACA	p.T497T	SLITRK2_uc010nsp.2_Silent_p.T497T|SLITRK2_uc010nso.2_Silent_p.T497T|SLITRK2_uc011mwq.1_Silent_p.T497T|SLITRK2_uc011mwr.1_Silent_p.T497T|SLITRK2_uc011mws.1_Silent_p.T497T|SLITRK2_uc004fcg.2_Silent_p.T497T|SLITRK2_uc011mwt.1_Silent_p.T497T	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	497	Extracellular (Potential).|LRR 12.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CGGCCCTAACCAGGCTGAATC	0.478			NA											48	157					8.86878e-18	1.19553e-17	0.01441	1	0
GPR50	9248	broad.mit.edu	37	X	150349408	150349409	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:150349408_150349409CC>AT	uc010ntg.1	+	2	1488_1489	c.1353_1354CC>AT	c.(1351-1356)GTCCAT>GTATAT	p.H452Y		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	452	Cytoplasmic (Potential).|Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					CTGACTCTGTCCATTTCAAGGG	0.55			NA											281	369					0	0	0.004672	0	0
IL9R	3581	broad.mit.edu	37	X	155233373	155233373	+	Missense_Mutation	SNP	A	A	G			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:155233373A>G	uc004fnv.1	+	4	465	c.286A>G	c.(286-288)ATC>GTC	p.I96V	IL9R_uc010nvn.2_Missense_Mutation_p.I75V|IL9R_uc004fnu.1_Silent_p.A140A	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	96	Extracellular (Potential).				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				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)					ACATAAGTGCATCTTGCGGGG	0.582			NA											15	11					0	0	0.004007	0	0
MS4A14	84689	broad.mit.edu	37	11	60183801	60183801	+	Frame_Shift_Del	DEL	C	C	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr11:60183801delC	uc001npj.2	+	5	1925	c.1360delC	c.(1360-1362)CAAfs	p.Q454fs	MS4A14_uc001npi.2_Frame_Shift_Del_p.Q342fs|MS4A14_uc001npn.2_Frame_Shift_Del_p.Q192fs|MS4A14_uc001npk.2_Frame_Shift_Del_p.Q437fs|MS4A14_uc001npl.2_Frame_Shift_Del_p.Q192fs|MS4A14_uc001npm.2_Frame_Shift_Del_p.Q192fs	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	454	Gln-rich.					integral to membrane	receptor activity			breast(1)	1						GCAAATTTTACAAATGTCATA	0.398			NA											22	51	---	---	---	---	NA	NA	NA	NA	NA
MYF5	4617	broad.mit.edu	37	12	81111289	81111289	+	Frame_Shift_Del	DEL	G	G	-	rs141800220		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr12:81111289delG	uc001szg.2	+	1	582	c.447delG	c.(445-447)CCGfs	p.P149fs		NM_005593	NP_005584	P13349	MYF5_HUMAN	myogenic factor 5	149					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(1)	1						ATAGCCTGCCGGGACAGAGCT	0.557			NA											57	205	---	---	---	---	NA	NA	NA	NA	NA
SERPINA6	866	broad.mit.edu	37	14	94770871	94770871	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr14:94770871delG	uc001ycv.2	-	5	1206	c.1102delC	c.(1102-1104)CTAfs	p.L368fs	SERPINA6_uc010auv.2_RNA	NM_001756	NP_001747	P08185	CBG_HUMAN	corticosteroid binding globulin precursor	368					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			skin(3)|ovary(1)|central_nervous_system(1)	5		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GTCAGGTTTAGGGTGACCCCA	0.522			NA											19	42	---	---	---	---	NA	NA	NA	NA	NA
CYP11A1	1583	broad.mit.edu	37	15	74630957	74630958	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr15:74630957_74630958insA	uc002axt.2	-	8	1543_1544	c.1388_1389insT	c.(1387-1389)CTGfs	p.L463fs	CYP11A1_uc002axs.2_Frame_Shift_Ins_p.L305fs|CYP11A1_uc010bjm.1_Frame_Shift_Ins_p.L305fs|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Frame_Shift_Ins_p.L381fs	NM_000781	NP_000772	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A,	463					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			ovary(2)	2					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCCGCCGTCCCAGACACTGCCG	0.559	Esophageal Squamous(87;818 1337 4093 9268 37314)		NA											35	68	---	---	---	---	NA	NA	NA	NA	NA
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr16:3119304_3119305insG	uc002cto.2	+	6	864_865	c.653_654insG	c.(652-654)GACfs	p.D218fs	IL32_uc002ctk.2_Frame_Shift_Ins_p.D115fs|IL32_uc010uwp.1_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.2_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.2_Frame_Shift_Ins_p.D172fs|IL32_uc002ctn.2_Frame_Shift_Ins_p.D172fs|IL32_uc002cts.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctq.2_Frame_Shift_Ins_p.D218fs|IL32_uc002ctr.2_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.2_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.1_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.2_Frame_Shift_Ins_p.D163fs	NM_004221	NP_004212	P24001	IL32_HUMAN	interleukin 32 isoform B	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			pancreas(1)	1						CCACGGGGGGACAAGGAGGAGC	0.574			NA											15	279	---	---	---	---	NA	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7577089	7577094	+	In_Frame_Del	DEL	GCGCCG	GCGCCG	-	rs149633775	byFrequency	TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	GCGCCG	GCGCCG	-	-	GCGCCG	GCGCCG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:7577089_7577094delGCGCCG	uc002gim.2	-	8	1038_1043	c.844_849delCGGCGC	c.(844-849)CGGCGCdel	p.RR282del	TP53_uc002gig.1_Intron|TP53_uc002gih.2_In_Frame_Del_p.RR282del|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Del_p.RR150del|TP53_uc010cng.1_In_Frame_Del_p.RR150del|TP53_uc002gii.1_In_Frame_Del_p.RR150del|TP53_uc010cnh.1_In_Frame_Del_p.RR282del|TP53_uc010cni.1_In_Frame_Del_p.RR282del|TP53_uc002gij.2_In_Frame_Del_p.RR282del	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282_283	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> H (in a brain tumor with no family history; germline mutation and 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.R282W(367)|p.R282G(27)|p.R283P(23)|p.R282Q(21)|p.R283C(17)|p.R282P(14)|p.R283H(12)|p.R282R(8)|p.0?(7)|p.R283L(4)|p.R283R(4)|p.R283fs*62(4)|p.R282L(3)|p.R283G(2)|p.T284fs*61(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.?(2)|p.R283fs*16(2)|p.R282fs*24(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.T284fs*21(1)|p.R283del(1)|p.R283S(1)|p.R283fs*22(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R282H(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.D281_R282delDR(1)|p.R280fs*62(1)|p.R283_T284>T(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)		CTTCCTCTGTGCGCCGGTCTCTCCCA	0.563	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)			12	21	---	---	---	---	NA	NA	NA	NA	NA
DNAH9	1770	broad.mit.edu	37	17	11686960	11686961	+	Splice_Site	INS	-	-	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr17:11686960_11686961insA	uc002gne.2	+	40	7787	c.7719_splice	c.e40-2	p.W2573_splice	DNAH9_uc010coo.2_Splice_Site_p.W1867_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGACTGTTCCAGGTATGATCG	0.52			NA											12	21	---	---	---	---	NA	NA	NA	NA	NA
SLC40A1	30061	broad.mit.edu	37	2	190428482	190428484	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr2:190428482_190428484delTGA	uc002uqp.3	-	7	1579_1581	c.1228_1230delTCA	c.(1228-1230)TCAdel	p.S410del		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated	410					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GAATGAACCTTGATCGGATATCT	0.419			NA											13	63	---	---	---	---	NA	NA	NA	NA	NA
IMPG2	50939	broad.mit.edu	37	3	100951633	100951633	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:100951633delG	uc003duq.1	-	15	3428	c.3225delC	c.(3223-3225)GCCfs	p.A1075fs	IMPG2_uc011bhe.1_Frame_Shift_Del_p.A938fs|IMPG2_uc010hpj.1_RNA	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1075	Extracellular (Potential).|EGF-like 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						ACCTACAAATGGCCCCGTGCC	0.433			NA											18	16	---	---	---	---	NA	NA	NA	NA	NA
CD200	4345	broad.mit.edu	37	3	112054808	112054808	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:112054808delG	uc003dyw.2	+	2	175	c.31delG	c.(31-33)GGGfs	p.G11fs	CD200_uc010hqd.1_Intron|CD200_uc003dyx.2_Intron|CD200_uc003dyy.2_Intron|CD200_uc003dyz.2_Intron	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	CD200 antigen isoform b	Error:Variant_position_missing_in_P41217_after_alignment					regulation of immune response	integral to plasma membrane					0		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CAGGACAATTGGGGGCCCTCT	0.279			NA											26	90	---	---	---	---	NA	NA	NA	NA	NA
PARP14	54625	broad.mit.edu	37	3	122437372	122437373	+	Frame_Shift_Ins	INS	-	-	A			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr3:122437372_122437373insA	uc003efq.3	+	14	4433_4434	c.4374_4375insA	c.(4372-4377)ACCAGTfs	p.T1458fs	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Frame_Shift_Ins_p.T1175fs|PARP14_uc003efs.1_Frame_Shift_Ins_p.T1175fs	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1458_1459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		GTCCTTACACCAGTGAAGATGA	0.406			NA											12	86	---	---	---	---	NA	NA	NA	NA	NA
SLC27A6	28965	broad.mit.edu	37	5	128364079	128364079	+	Frame_Shift_Del	DEL	T	T	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr5:128364079delT	uc003kuy.2	+	9	1892	c.1496delT	c.(1495-1497)GTTfs	p.V499fs	SLC27A6_uc003kuz.2_Frame_Shift_Del_p.V499fs	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	499					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTTGCTGATGTTATTGGAATG	0.343			NA											22	43	---	---	---	---	NA	NA	NA	NA	NA
LRRC16A	55604	broad.mit.edu	37	6	25472722	25472723	+	Frame_Shift_Ins	INS	-	-	T			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chr6:25472722_25472723insT	uc011djw.1	+	11	1223_1224	c.847_848insT	c.(847-849)CTTfs	p.L283fs	LRRC16A_uc010jpx.2_Frame_Shift_Ins_p.L283fs|LRRC16A_uc010jpy.2_Frame_Shift_Ins_p.L283fs|LRRC16A_uc003nez.1_Frame_Shift_Ins_p.L122fs	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	283	LRR 2.				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4						CACAATTAACCTTGCTGGCAAC	0.401			NA											5	4	---	---	---	---	NA	NA	NA	NA	NA
CLDN2	9075	broad.mit.edu	37	X	106171515	106171515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:106171515delG	uc004emq.1	+	2	576	c.57delG	c.(55-57)TTGfs	p.L19fs	MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Frame_Shift_Del_p.L19fs	NM_020384	NP_065117	P57739	CLD2_HUMAN	claudin 2	19	Helical; (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1						TGGGGCTTTTGGGCACACTGG	0.562			NA											48	88	---	---	---	---	NA	NA	NA	NA	NA
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-75-7031-01A-11D-1945-08	TCGA-75-7031-10A-01D-1946-08	GCA	GCA	-	-	GCA	GCA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	7fda57af-d3b4-42ec-bb6e-83aed3a1d991	9c9f0f63-92aa-46bc-ad5b-963d01a31c27	g.chrX:149639633_149639635delGCA	uc004fee.1	+	3	1864_1866	c.1788_1790delGCA	c.(1786-1791)CTGCAG>CTG	p.Q606del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q568del|MAMLD1_uc011mxu.1_In_Frame_Del_p.Q581del|MAMLD1_uc011mxv.1_In_Frame_Del_p.Q581del|MAMLD1_uc011mxw.1_In_Frame_Del_p.Q533del	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.488			NA											9	184	---	---	---	---	NA	NA	NA	NA	NA
