Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
MEGF6	1953	broad.mit.edu	37	1	3512006	3512006	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:3512006A>T	uc001akl.2	-	3	499	c.272T>A	c.(271-273)GTC>GAC	p.V91D		NM_001409	NP_001400	O75095	MEGF6_HUMAN	EGF-like-domain, multiple 3 precursor	91	EMI.					extracellular region	calcium ion binding			large_intestine(1)	1	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CATGTAGTAGACGGTTCTAGA	0.617		NA											23	49					0	0	0	0
VPS13D	55187	broad.mit.edu	37	1	12557603	12557603	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:12557603G>C	uc001atv.2	+	68	12853	c.12712G>C	c.(12712-12714)GGG>CGG	p.G4238R	VPS13D_uc001atw.2_Missense_Mutation_p.G4213R|VPS13D_uc001atx.2_Missense_Mutation_p.G3425R|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Missense_Mutation_p.G236R	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4237					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGGGCCCCAGGGGCTGCTTCC	0.517		NA											42	84					0	0	0	0
CELA2A	63036	broad.mit.edu	37	1	15788127	15788127	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:15788127G>T	uc001awk.2	+	3	227	c.201G>T	c.(199-201)TGG>TGT	p.W67C		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	67	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						CCAACAGCTGGGTCCTGACGG	0.607		NA											51	100					4.26e-23	5.75e-23	1	0
HSPG2	3339	broad.mit.edu	37	1	22168731	22168731	+	Splice_Site	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:22168731C>A	uc001bfj.2	-	68	9092	c.9052_splice	c.e68+1	p.R3018_splice	HSPG2_uc009vqd.2_Splice_Site_p.R3019_splice	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCCATACTCACGGTAGGAAGA	0.652		NA											25	37					2.4e-15	3.03e-15	1	0
IQCC	55721	broad.mit.edu	37	1	32672224	32672224	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:32672224A>C	uc001bum.2	+	3	348	c.301A>C	c.(301-303)ATG>CTG	p.M101L	IQCC_uc009vua.2_Missense_Mutation_p.M181L|IQCC_uc010ogz.1_Missense_Mutation_p.M1L|DCDC2B_uc001bun.2_5'Flank	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN	IQ motif containing C isoform 2	101										ovary(4)	4		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTGGGAGGAGATGGTGCTGAA	0.547		NA											56	77					0	0	0	0
CSMD2	114784	broad.mit.edu	37	1	34180272	34180272	+	Silent	SNP	G	G	A	rs145807635		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:34180272G>A	uc001bxn.1	-	21	3230	c.3201C>T	c.(3199-3201)CCC>CCT	p.P1067P	CSMD2_uc001bxm.1_Silent_p.P1107P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1067	Sushi 6.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACGGTACCCGGGGAAGCAGG	0.662		NA											96	122					0	0	0	0
TIE1	7075	broad.mit.edu	37	1	43774729	43774729	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:43774729G>C	uc001ciu.2	+	8	1194	c.1115G>C	c.(1114-1116)TGT>TCT	p.C372S	TIE1_uc010okd.1_Missense_Mutation_p.C372S|TIE1_uc010oke.1_Missense_Mutation_p.C327S|TIE1_uc009vwq.2_Missense_Mutation_p.C328S|TIE1_uc010okf.1_Missense_Mutation_p.C17S|TIE1_uc010okg.1_Missense_Mutation_p.C17S|TIE1_uc010okc.1_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	372	Ig-like C2-type 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGATCAACTGTGCAGCTGCA	0.607		NA											37	75					0	0	0	0
EIF2B3	8891	broad.mit.edu	37	1	45407189	45407189	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:45407189T>G	uc001cmt.1	-	4	570	c.443A>C	c.(442-444)AAA>ACA	p.K148T	EIF2B3_uc001cmu.1_Missense_Mutation_p.K148T|EIF2B3_uc001cmv.1_Missense_Mutation_p.K148T|EIF2B3_uc001cmw.2_Missense_Mutation_p.K148T	NM_020365	NP_065098	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B,	148					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)					TGCTTTTTTTTTCCCCTTTTG	0.338		NA											78	110					0	0	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52705124	52705124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:52705124G>T	uc001cto.2	+	4	2207	c.2035G>T	c.(2035-2037)GGA>TGA	p.G679*	ZFYVE9_uc001ctn.2_Nonsense_Mutation_p.G679*|ZFYVE9_uc001ctp.2_Nonsense_Mutation_p.G679*	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	679					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						TGGTCAGTTTGGAATTTCTGC	0.478		NA											78	123					1.13e-35	1.62e-35	1	0
C1orf168	199920	broad.mit.edu	37	1	57258099	57258099	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:57258099T>C	uc001cym.3	-	2	793	c.387A>G	c.(385-387)AAA>AAG	p.K129K	C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.K129K	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	hypothetical protein LOC199920	129										ovary(3)|skin(2)	5						CCACCATTACTTTTTCCTTAG	0.418		NA											116	176					0	0	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507186	74507186	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:74507186C>A	uc001dfy.3	-	7	1621	c.1429G>T	c.(1429-1431)GAG>TAG	p.E477*	LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	477										ovary(2)	2						TGAATTGTCTCTTTATTTTCT	0.338		NA											84	136					7.63e-38	1.1e-37	1	0
C1orf173	127254	broad.mit.edu	37	1	75078365	75078365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:75078365C>A	uc001dgg.2	-	9	1348	c.1129G>T	c.(1129-1131)GGA>TGA	p.G377*	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Nonsense_Mutation_p.G171*	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	377										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CGTTTGCCTCCAAGCCTGGAA	0.458		NA											28	53					3.73e-12	4.56e-12	1	0
ACADM	34	broad.mit.edu	37	1	76211507	76211507	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:76211507C>T	uc001dgw.3	+	8	1046	c.616C>T	c.(616-618)CGT>TGT	p.R206C	ACADM_uc010ord.1_Missense_Mutation_p.R120C|ACADM_uc009wbp.2_Missense_Mutation_p.R210C|ACADM_uc009wbr.2_Missense_Mutation_p.R239C|ACADM_uc010ore.1_Missense_Mutation_p.R170C|ACADM_uc010orf.1_Missense_Mutation_p.R17C|ACADM_uc001dgx.3_Missense_Mutation_p.R120C|ACADM_uc010org.1_Missense_Mutation_p.R76C|ACADM_uc009wbs.1_RNA	NM_000016	NP_000007	P11310	ACADM_HUMAN	medium-chain acyl-CoA dehydrogenase isoform a	206			R -> L (in ACADMD).		carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(2)|ovary(1)|skin(1)	4						TTTATTGGCACGTTCTGATCC	0.353		NA											43	81					0	0	0	0
MSH4	4438	broad.mit.edu	37	1	76365379	76365379	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:76365379G>T	uc001dhd.1	+	19	2648	c.2607G>T	c.(2605-2607)ACG>ACT	p.T869T		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	869					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5						CTCAAATTACGAGACAAATTT	0.279		NA						MMR					49	57					2.43e-25	3.34e-25	1	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76877870	76877870	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:76877870A>T	uc001dhh.2	+	3	554	c.391A>T	c.(391-393)ACC>TCC	p.T131S	ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.T131S|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.T66S	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	131	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						TGTGTCCCATACCAGCGTTCC	0.423		NA											69	75					0	0	0	0
DPYD	1806	broad.mit.edu	37	1	97658799	97658799	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:97658799G>A	uc001drv.2	-	20	2585	c.2448C>T	c.(2446-2448)TGC>TGT	p.C816C		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	816					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GAATGGCACTGCATACCTAGA	0.358		NA											14	26					0	0	0	0
VCAM1	7412	broad.mit.edu	37	1	101197026	101197026	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:101197026G>C	uc001dti.2	+	6	1597	c.1477G>C	c.(1477-1479)GAA>CAA	p.E493Q	VCAM1_uc001dtj.2_Missense_Mutation_p.E401Q|VCAM1_uc010ouj.1_Missense_Mutation_p.E431Q	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	493	Ig-like C2-type 5.|Extracellular (Potential).				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(1)	1		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TGATGACATGGAATTCGAACC	0.373		NA											37	70					0	0	0	0
COL11A1	1301	broad.mit.edu	37	1	103431074	103431074	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:103431074G>T	uc001dul.2	-	38	3203	c.2885C>A	c.(2884-2886)CCT>CAT	p.P962H	COL11A1_uc001duk.2_Missense_Mutation_p.P158H|COL11A1_uc001dum.2_Missense_Mutation_p.P974H|COL11A1_uc001dun.2_Missense_Mutation_p.P923H|COL11A1_uc009weh.2_Missense_Mutation_p.P846H	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	962	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)		TGGCCCAGGAGGGCCGGTCTT	0.388		NA											80	158					3.24e-39	4.7e-39	1	0
SYPL2	284612	broad.mit.edu	37	1	110022063	110022063	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:110022063C>A	uc001dxp.2	+	6	1078	c.712C>A	c.(712-714)CCG>ACG	p.P238T	SYPL2_uc010ovk.1_Missense_Mutation_p.P174T	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	mitsugumin 29	238	Cytoplasmic (Potential).|MARVEL.					integral to membrane|synaptic vesicle	transporter activity			ovary(1)	1		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CAAGGAGACCCCGTGGCATGG	0.408		NA											37	85					9.46e-24	1.29e-23	1	0
ADORA3	140	broad.mit.edu	37	1	112028408	112028408	+	Silent	SNP	T	T	G	rs145936359		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:112028408T>G	uc001ebf.2	-	5	1694	c.927A>C	c.(925-927)GTA>GTC	p.V309V	ADORA3_uc001ebg.3_Silent_p.V228V	NM_020683	NP_065734	P33765	AA3R_HUMAN	adenosine A3 receptor isoform 1	Error:Variant_position_missing_in_P33765_after_alignment					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			ovary(2)|large_intestine(1)|skin(1)	4		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AATGACTGATTACAGAGATGA	0.433		NA											57	68					0	0	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273312	145273312	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:145273312G>C	uc001emn.3	+	3	536	c.166G>C	c.(166-168)GGG>CGG	p.G56R	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.G56R|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G56R|NOTCH2NL_uc010oyh.1_RNA	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Notch homolog 2 N-terminal like protein	56	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			ovary(1)	1						ATGTGCCTCAGGGTTTACAGG	0.567		NA											55	414					0	0	0	0
PRUNE	58497	broad.mit.edu	37	1	151001309	151001309	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:151001309C>T	uc001ewh.1	+	7	958	c.822C>T	c.(820-822)TGC>TGT	p.C274C	PRUNE_uc001ewi.1_Silent_p.C92C|PRUNE_uc010pco.1_Silent_p.C42C|PRUNE_uc001ewj.1_Intron|PRUNE_uc001ewk.1_Intron	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	274						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|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)			ATGCTTTCTGCCAGGCTCACA	0.483		NA											4	167					0	0	0	0
IVL	3713	broad.mit.edu	37	1	152883976	152883976	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:152883976C>A	uc001fau.2	+	2	1749	c.1703C>A	c.(1702-1704)CCT>CAT	p.P568H		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	568					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTATTGCTTCCTGTAGAGCAC	0.488		NA											65	87					4.66e-34	6.64e-34	1	0
DCAF8	50717	broad.mit.edu	37	1	160249948	160249948	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:160249948A>G	uc010pjc.1	-	4	514	c.242T>C	c.(241-243)ATA>ACA	p.I81T	PEX19_uc010pje.1_RNA|PEX19_uc001fvs.2_Missense_Mutation_p.I228T|PEX19_uc001fvt.2_Missense_Mutation_p.I138T	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	Error:Variant_position_missing_in_Q5TAQ9_after_alignment						CUL4 RING ubiquitin ligase complex	protein binding			skin(2)	2						CTGCTCACATATTTTGCACAT	0.468		NA											137	208					0	0	0	0
LMX1A	4009	broad.mit.edu	37	1	165218667	165218667	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:165218667C>T	uc001gcy.1	-	3	695	c.474G>A	c.(472-474)GTG>GTA	p.V158V	LMX1A_uc001gcz.1_Silent_p.V158V	NM_177398	NP_796372	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1)	5	all_hematologic(923;0.248)					CTGCTGGGCTCACCAGGCTGA	0.612		NA											21	67					0	0	0	0
F5	2153	broad.mit.edu	37	1	169510646	169510646	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:169510646G>A	uc001ggg.1	-	13	3827	c.3682C>T	c.(3682-3684)CAG>TAG	p.Q1228*		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1228	2-5.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATGGGCATCTGACCGAGGGCT	0.527		NA											177	243					0	0	0	0
SELL	6402	broad.mit.edu	37	1	169672410	169672410	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:169672410C>G	uc001ggk.2	-	6	1136	c.938G>C	c.(937-939)AGT>ACT	p.S313T	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Missense_Mutation_p.S266T|SELL_uc001ggl.1_Missense_Mutation_p.S326T	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	313	Extracellular (Potential).|Sushi 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)					ACATATTGGACTAGGATTTGA	0.383		NA											12	20					0	0	0	0
ANKRD45	339416	broad.mit.edu	37	1	173579330	173579330	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:173579330A>G	uc001gja.1	-	6	816	c.755T>C	c.(754-756)GTA>GCA	p.V252A		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	268											0						ATGGCTTGTTACAGATTTGGC	0.338		NA											54	113					0	0	0	0
NPHS2	7827	broad.mit.edu	37	1	179533895	179533895	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:179533895C>A	uc001gmq.3	-	2	393	c.308G>T	c.(307-309)TGG>TTG	p.W103L	NPHS2_uc009wxi.2_Missense_Mutation_p.W103L	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	podocin	103					excretion	integral to plasma membrane	protein binding				0						GACAAGAAGCCACTCACAGGC	0.403		NA											28	40					8.25e-16	1.05e-15	1	0
RGS21	431704	broad.mit.edu	37	1	192321323	192321323	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:192321323G>T	uc001gsh.2	+	4	409	c.235G>T	c.(235-237)GAA>TAA	p.E79*		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	79	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|skin(1)	2						TGAATTCATTGAAGCTGATGC	0.383		NA											14	34					2.32e-09	2.73e-09	1	0
CFHR5	81494	broad.mit.edu	37	1	196965026	196965026	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:196965026G>A	uc001gts.3	+	5	915	c.787G>A	c.(787-789)GTT>ATT	p.V263I		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	263	Sushi 4.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2						ACCCACTTGTGTTGGTAAATA	0.289		NA											28	35					0	0	0	0
PFKFB2	5208	broad.mit.edu	37	1	207235301	207235301	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:207235301G>T	uc001hfg.2	+	3	198	c.89G>T	c.(88-90)TGG>TTG	p.W30L	PFKFB2_uc010psc.1_5'UTR|PFKFB2_uc001hfh.2_Missense_Mutation_p.W30L|PFKFB2_uc009xcc.2_5'UTR	NM_006212	NP_006203	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,	30	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			ovary(1)	1	Prostate(682;0.19)					CTTCTAGCATGGGCCTCCTAC	0.353		NA											54	107					5.11e-33	7.22e-33	1	0
USH2A	7399	broad.mit.edu	37	1	215931940	215931940	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:215931940G>C	uc001hku.1	-	58	11773	c.11386C>G	c.(11386-11388)CCA>GCA	p.P3796A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	3796	Fibronectin type-III 23.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTTTACCTGGTGGTATCCAA	0.299		NA								HNSCC(13;0.011)			60	92					0	0	0	0
USH2A	7399	broad.mit.edu	37	1	216373451	216373451	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:216373451A>G	uc001hku.1	-	17	3716	c.3329T>C	c.(3328-3330)TTC>TCC	p.F1110S	USH2A_uc001hkv.2_Missense_Mutation_p.F1110S	NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	1110	Extracellular (Potential).|Fibronectin type-III 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGTCTAAGAAGTATTGAAT	0.328		NA								HNSCC(13;0.011)			29	46					0	0	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127684	226127684	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:226127684A>T	uc001hpt.1	-	2	349	c.269T>A	c.(268-270)CTG>CAG	p.L90Q	LEFTY2_uc010pvk.1_Missense_Mutation_p.L90Q|LEFTY2_uc009xek.1_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	90					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					CTCCGACGCCAGGAACCTGCC	0.697		NA											9	18					0	0	0	0
PGBD5	79605	broad.mit.edu	37	1	230472906	230472906	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:230472906G>T	uc010pwb.1	-	4	816	c.816C>A	c.(814-816)TTC>TTA	p.F272L	PGBD5_uc001htv.2_Missense_Mutation_p.F371L	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	272						integral to membrane				ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGGGCCCCGTGAAAATGATGT	0.597		NA											43	64					4.44e-20	5.89e-20	1	0
TBCE	6905	broad.mit.edu	37	1	235600733	235600733	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:235600733G>T	uc001hwz.1	+	12	1183	c.1060G>T	c.(1060-1062)GCG>TCG	p.A354S	TBCE_uc010pxq.1_RNA|TBCE_uc001hxa.1_Missense_Mutation_p.A354S|TBCE_uc010pxr.1_Missense_Mutation_p.A405S|TBCE_uc001hxb.1_Missense_Mutation_p.A241S	NM_003193	NP_003184	Q15813	TBCE_HUMAN	beta-tubulin cofactor E	354	LRRCT.				'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)			AGCAGAGACGGCGCGACTACT	0.468		NA											52	67					1.86e-20	2.47e-20	1	0
RYR2	6262	broad.mit.edu	37	1	237947941	237947941	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:237947941G>A	uc001hyl.1	+	90	13049	c.12929G>A	c.(12928-12930)TGC>TAC	p.C4310Y	RYR2_uc010pya.1_Missense_Mutation_p.C725Y	NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	4310	Helical; Name=M4; (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			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)			CGCATCATTTGCAGCCTGCTG	0.498		NA											28	53					0	0	0	0
PLD5	200150	broad.mit.edu	37	1	242451748	242451748	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:242451748C>A	uc001hzn.1	-	3	538	c.411G>T	c.(409-411)ATG>ATT	p.M137I	PLD5_uc001hzl.3_Missense_Mutation_p.M75I|PLD5_uc001hzm.3_Intron|PLD5_uc001hzo.1_Missense_Mutation_p.M45I			Q8N7P1	PLD5_HUMAN	RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;	137						integral to membrane	catalytic activity			ovary(6)	6	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGAGTAAATTCATCCAGCCTT	0.403		NA											37	57					7.61e-30	1.06e-29	1	0
OR2W5	441932	broad.mit.edu	37	1	247655010	247655010	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:247655010T>C	uc001icz.1	+	1	581	c.581T>C	c.(580-582)CTG>CCG	p.L194P		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GAAACCATGCTGGTAGAAGCG	0.592		NA											98	134					0	0	0	0
OR2T33	391195	broad.mit.edu	37	1	248436753	248436753	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248436753C>T	uc010pzi.1	-	1	364	c.364G>A	c.(364-366)GCG>ACG	p.A122T		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGACAGCCGCATAGCGGTCA	0.612		NA											16	62					0	0	0	0
OR2T33	391195	broad.mit.edu	37	1	248436759	248436759	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248436759G>T	uc010pzi.1	-	1	358	c.358C>A	c.(358-360)CGC>AGC	p.R120S		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	120	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCGCATAGCGGTCATAGGCC	0.592		NA											18	60					6.34e-27	8.77e-27	1	0
OR2M7	391196	broad.mit.edu	37	1	248487331	248487331	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248487331G>T	uc010pzk.1	-	1	540	c.540C>A	c.(538-540)GAC>GAA	p.D180E		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M,	180	Extracellular (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)			GGGAAGGGAAGTCACAGCAGA	0.438		NA											97	230					1.01e-60	1.5e-60	1	0
OR2T6	254879	broad.mit.edu	37	1	248551581	248551581	+	Silent	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr1:248551581A>T	uc001iei.1	+	1	672	c.672A>T	c.(670-672)ACA>ACT	p.T224T		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	224	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	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)			TTCTCATCACAGTGCATCAGA	0.498		NA											75	63					0	0	0	0
SLC39A12	221074	broad.mit.edu	37	10	18254530	18254530	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:18254530G>T	uc001ipo.2	+	4	935	c.662G>T	c.(661-663)TGT>TTT	p.C221F	SLC39A12_uc001ipn.2_Missense_Mutation_p.C221F|SLC39A12_uc001ipp.2_Missense_Mutation_p.C221F|SLC39A12_uc010qck.1_Missense_Mutation_p.C87F	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	221	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CAGGGTGTTTGTCTGGGACAA	0.443		NA											48	51					2.08e-19	2.74e-19	1	0
PTF1A	256297	broad.mit.edu	37	10	23482812	23482812	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:23482812C>A	uc001irp.2	+	2	964	c.964C>A	c.(964-966)CCA>ACA	p.P322T		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	322					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				pancreas(1)|skin(1)	2						AGAAAACGAACCACCATTTGA	0.398		NA											57	113					9.16e-17	1.18e-16	1	0
KIAA1217	56243	broad.mit.edu	37	10	24802317	24802317	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:24802317A>T	uc001iru.3	+	10	2534	c.2131A>T	c.(2131-2133)AGA>TGA	p.R711*	KIAA1217_uc001irs.2_Nonsense_Mutation_p.R631*|KIAA1217_uc001irt.3_Nonsense_Mutation_p.R676*|KIAA1217_uc010qcy.1_Nonsense_Mutation_p.R676*|KIAA1217_uc010qcz.1_Nonsense_Mutation_p.R676*|KIAA1217_uc001irv.1_Nonsense_Mutation_p.R526*|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Nonsense_Mutation_p.R394*|KIAA1217_uc001irz.2_Nonsense_Mutation_p.R394*|KIAA1217_uc001irx.2_Nonsense_Mutation_p.R394*|KIAA1217_uc001iry.2_Nonsense_Mutation_p.R394*	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	711					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7						GGAGCAAGAGAGACAAAAATA	0.473		NA									OREG0020076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	53					0	0	0	0
GPR158	57512	broad.mit.edu	37	10	25883321	25883322	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:25883321_25883322CC>AA	uc001isj.2	+	9	2053_2054	c.1993_1994CC>AA	c.(1993-1995)CCA>AAA	p.P665K	GPR158_uc001isk.2_Missense_Mutation_p.P40K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	665	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						GCTTTTGATTCCAAAGGTATTC	0.337		NA											44	98					0	0	0	0
ARMC4	55130	broad.mit.edu	37	10	28284017	28284017	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:28284017C>A	uc009xky.2	-	2	153	c.55G>T	c.(55-57)GGA>TGA	p.G19*	ARMC4_uc001itz.2_Nonsense_Mutation_p.G19*	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	19							binding			ovary(4)|skin(2)	6						TCGAGGATTCCAGTTCCATGT	0.453		NA											33	48					1.46e-13	1.81e-13	1	0
HNRNPF	3185	broad.mit.edu	37	10	43882406	43882406	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:43882406G>A	uc009xmh.1	-	3	1414	c.927C>T	c.(925-927)TTC>TTT	p.F309F	HNRNPF_uc001jar.2_Silent_p.F309F|HNRNPF_uc001jas.2_Silent_p.F309F|HNRNPF_uc001jat.2_Silent_p.F309F|HNRNPF_uc001jav.2_Silent_p.F309F|HNRNPF_uc001jau.2_Silent_p.F309F|uc010qfa.1_Missense_Mutation_p.E30K	NM_001098208	NP_001091678	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	309	RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding				0						TGAGAGGAGAGAAGAAGTTGT	0.522		NA											55	69					0	0	0	0
ALOX5	240	broad.mit.edu	37	10	45941034	45941034	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:45941034C>A	uc001jce.2	+	14	2023	c.1924C>A	c.(1924-1926)CTC>ATC	p.L642I	ALOX5_uc009xmt.2_Missense_Mutation_p.L610I|ALOX5_uc010qfg.1_Missense_Mutation_p.L585I	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	642	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CCGCAAGAACCTCGAGGCCAT	0.542		NA											47	83					2.43e-25	3.34e-25	1	0
DKK1	22943	broad.mit.edu	37	10	54074250	54074250	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:54074250C>T	uc001jjr.2	+	1	210	c.56C>T	c.(55-57)GCG>GTG	p.A19V	uc001jjq.1_5'Flank|uc009xox.1_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	dickkopf homolog 1 precursor	19					negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3						ATGGTAGCGGCGGCTCTCGGC	0.607		NA									OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	67					0	0	0	0
PCDH15	65217	broad.mit.edu	37	10	56106124	56106124	+	Splice_Site	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:56106124C>A	uc001jju.1	-	6	989	c.594_splice	c.e6+1	p.P198_splice	PCDH15_uc010qhq.1_Splice_Site_p.P203_splice|PCDH15_uc010qhr.1_Splice_Site_p.P198_splice|PCDH15_uc010qhs.1_Splice_Site_p.P203_splice|PCDH15_uc010qht.1_Splice_Site_p.P198_splice|PCDH15_uc010qhu.1_Splice_Site_p.P198_splice|PCDH15_uc001jjv.1_Splice_Site_p.P176_splice|PCDH15_uc010qhv.1_Splice_Site_p.P198_splice|PCDH15_uc010qhw.1_Splice_Site_p.P198_splice|PCDH15_uc010qhx.1_Splice_Site_p.P198_splice|PCDH15_uc010qhy.1_Splice_Site_p.P203_splice|PCDH15_uc010qhz.1_Splice_Site_p.P198_splice|PCDH15_uc010qia.1_Splice_Site_p.P176_splice|PCDH15_uc010qib.1_Splice_Site_p.P176_splice|PCDH15_uc001jjw.2_Splice_Site_p.P198_splice	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor						equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTTACATACCGGATCATCT	0.308		NA								HNSCC(58;0.16)			40	59					8.16e-20	1.08e-19	1	0
IPMK	253430	broad.mit.edu	37	10	59955934	59955934	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:59955934T>C	uc001jkb.2	-	6	1477	c.1154A>G	c.(1153-1155)GAT>GGT	p.D385G		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	385						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			ovary(1)	1						ATGAGCAAAATCTATCATTCG	0.363		NA											95	143					0	0	0	0
LRIT1	26103	broad.mit.edu	37	10	85992071	85992071	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:85992071A>G	uc001kcz.1	-	4	1506	c.1484T>C	c.(1483-1485)GTG>GCG	p.V495A		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	495	Fibronectin type-III.|Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GACACACGCCACATACTTGGT	0.567		NA											14	29					0	0	0	0
LRIT1	26103	broad.mit.edu	37	10	85992310	85992310	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:85992310C>A	uc001kcz.1	-	4	1267	c.1245G>T	c.(1243-1245)CTG>CTT	p.L415L		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	415	Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						AGAGCTCTCCCAGGGCATCCA	0.607		NA											48	90					4.86e-25	6.65e-25	1	0
KIF20B	9585	broad.mit.edu	37	10	91479299	91479299	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:91479299A>C	uc001kgs.1	+	13	1630	c.1558A>C	c.(1558-1560)ATT>CTT	p.I520L	KIF20B_uc001kgr.1_Missense_Mutation_p.I520L	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	520					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						AAGAGCCACCATTTCATGGGA	0.343		NA											21	35					0	0	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918677	97918677	+	Silent	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:97918677A>T	uc001klp.2	+	6	3455	c.2598A>T	c.(2596-2598)TCA>TCT	p.S866S	ZNF518A_uc001klo.1_Silent_p.S336S|ZNF518A_uc001klq.2_Silent_p.S866S|ZNF518A_uc001klr.2_Silent_p.S866S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AACAAGTGTCATCAATACCAC	0.393		NA											33	45					0	0	0	0
SFXN2	118980	broad.mit.edu	37	10	104486494	104486494	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:104486494G>T	uc001kwb.2	+	2	267	c.101G>T	c.(100-102)CGC>CTC	p.R34L	SFXN2_uc001kwc.2_RNA|SFXN2_uc001kwd.2_RNA	NM_178858	NP_849189	Q96NB2	SFXN2_HUMAN	sideroflexin 2	34					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity				0		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		ACGGACCCCCGCACTGTCTTT	0.587		NA											47	87					1.19e-25	1.65e-25	1	0
ATRNL1	26033	broad.mit.edu	37	10	117075091	117075091	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:117075091G>T	uc001lcg.2	+	18	3268	c.2882G>T	c.(2881-2883)TGC>TTC	p.C961F	ATRNL1_uc010qsm.1_Missense_Mutation_p.C136F|ATRNL1_uc010qsn.1_RNA	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	attractin-like 1 precursor	961	PSI 5.|Extracellular (Potential).					integral to membrane	sugar binding			ovary(5)|lung(1)|central_nervous_system(1)	7		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTGGCTGGTGCAATGATCCT	0.443		NA											30	70					1.27e-14	1.59e-14	1	0
PDZD8	118987	broad.mit.edu	37	10	119044034	119044034	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:119044034T>C	uc001lde.1	-	5	2409	c.2210A>G	c.(2209-2211)GAA>GGA	p.E737G		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	737					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		AGCCACATCTTCAAGTTTTAA	0.448		NA											55	54					0	0	0	0
GPR123	84435	broad.mit.edu	37	10	134885501	134885501	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr10:134885501G>T	uc001llw.2	+	2	260	c.260G>T	c.(259-261)TGG>TTG	p.W87L				Q86SQ6	GP123_HUMAN	RecName: Full=Probable G-protein coupled receptor 123;	Error:Variant_position_missing_in_Q86SQ6_after_alignment						integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TCATGGGCGTGGGTCTTCAGA	0.652		NA											3	5					0.004672	0.00491766	1	0
OR51L1	119682	broad.mit.edu	37	11	5020434	5020434	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:5020434G>C	uc010qyu.1	+	1	222	c.222G>C	c.(220-222)GGG>GGC	p.G74G		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L,	74	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGACCTGGGGATGTCCCTGT	0.458		NA											96	169					0	0	0	0
OR52N5	390075	broad.mit.edu	37	11	5799430	5799430	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:5799430G>C	uc010qzn.1	-	1	435	c.435C>G	c.(433-435)CTC>CTG	p.L145L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N,	145	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		TAGGGTTGGTGAGTGTGGTAG	0.507		NA											61	66					0	0	0	0
NLRP14	338323	broad.mit.edu	37	11	7079072	7079072	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:7079072G>C	uc001mfb.1	+	7	2779	c.2456G>C	c.(2455-2457)AGA>ACA	p.R819T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	819	LRR 4.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TATCTAGAGAGACTGTCGTGA	0.408		NA											46	102					0	0	0	0
RPS13	6207	broad.mit.edu	37	11	17095985	17095985	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:17095985C>G	uc001mmp.2	-	6	483	c.451G>C	c.(451-453)GCA>CCA	p.A151P		NM_001017	NP_001008	P62277	RS13_HUMAN	ribosomal protein S13	151					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome				0						CAAATTTATGCGACCAGGGCA	0.318		NA											17	37					0	0	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363186	22363186	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:22363186C>A	uc001mqk.2	+	2	612	c.199C>A	c.(199-201)CTG>ATG	p.L67M		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	67	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						GTGCTTCGGCCTGCCCCGCCG	0.627		NA											19	21					2.89e-11	3.47e-11	1	0
BDNF	627	broad.mit.edu	37	11	27679873	27679873	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:27679873T>C	uc010rdu.1	-	2	1090	c.239A>G	c.(238-240)AAT>AGT	p.N80S	BDNFOS_uc001mrm.2_RNA|BDNFOS_uc009yij.2_RNA|BDNFOS_uc009yik.2_RNA|BDNFOS_uc009yil.2_RNA|BDNFOS_uc001mrp.2_RNA|BDNFOS_uc009yim.2_RNA|BDNFOS_uc009yin.2_RNA|BDNFOS_uc009yio.2_RNA|BDNFOS_uc009yip.2_RNA|BDNFOS_uc001mrn.2_RNA|BDNFOS_uc009yiq.2_RNA|BDNFOS_uc001mro.2_RNA|BDNFOS_uc009yir.2_RNA|BDNFOS_uc009yis.2_Intron|BDNFOS_uc009yit.2_RNA|BDNFOS_uc009yiu.2_RNA|BDNFOS_uc009yiv.2_RNA|BDNFOS_uc009yiw.2_RNA|BDNFOS_uc009yix.2_RNA|BDNFOS_uc009yiy.2_RNA|BDNFOS_uc009yiz.2_RNA|BDNFOS_uc001mrq.3_RNA|BDNFOS_uc001mrr.3_RNA|BDNFOS_uc009yja.2_RNA|BDNFOS_uc009yjb.2_RNA|BDNF_uc010rdv.1_Missense_Mutation_p.N80S|BDNF_uc001mrt.2_Missense_Mutation_p.N95S|BDNF_uc010rdw.1_Missense_Mutation_p.N80S|BDNF_uc009yjd.2_Missense_Mutation_p.N80S|BDNF_uc001mru.2_Missense_Mutation_p.N80S|BDNF_uc010rdx.1_Missense_Mutation_p.N80S|BDNF_uc010rdy.1_Missense_Mutation_p.N80S|BDNF_uc009yjg.2_Missense_Mutation_p.N80S|BDNF_uc009yje.2_Missense_Mutation_p.N162S|BDNF_uc009yjf.2_Missense_Mutation_p.N109S|BDNF_uc001mrv.2_Missense_Mutation_p.N80S|BDNF_uc001mrw.3_Missense_Mutation_p.N80S|BDNF_uc001mrx.2_Missense_Mutation_p.N80S|BDNF_uc001mry.3_Missense_Mutation_p.N80S|BDNF_uc001mrz.3_Missense_Mutation_p.N80S|BDNF_uc001msa.2_Missense_Mutation_p.N88S	NM_001143816	NP_001137288	P23560	BDNF_HUMAN	brain-derived neurotrophic factor isoform a	80						extracellular region	growth factor activity				0						GTTTTCTTCATTGGGCCGAAC	0.493		NA											116	149					0	0	0	0
HIPK3	10114	broad.mit.edu	37	11	33358705	33358705	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:33358705G>T	uc001mul.1	+	4	1576	c.1306G>T	c.(1306-1308)GAA>TAA	p.E436*	HIPK3_uc001mum.1_Nonsense_Mutation_p.E436*|HIPK3_uc009yjv.1_Nonsense_Mutation_p.E436*|HIPK3_uc009yjw.1_RNA	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	436	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TTTTTGCAAAGAAACAGATAT	0.313		NA											24	30					4.27e-12	5.2e-12	1	0
OR4C13	283092	broad.mit.edu	37	11	49974253	49974253	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:49974253T>C	uc010rhz.1	+	1	279	c.279T>C	c.(277-279)AAT>AAC	p.N93N		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						TCTTATTCAATGGATGTATGA	0.418		NA											121	160					0	0	0	0
OR4A16	81327	broad.mit.edu	37	11	55110931	55110931	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55110931T>A	uc010rie.1	+	1	255	c.255T>A	c.(253-255)TGT>TGA	p.C85*		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A,	85	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(2)|pancreas(1)	3						ACTTACTCTGTGATAAAATCG	0.448		NA											138	213					0	0	0	0
OR4A15	81328	broad.mit.edu	37	11	55135423	55135423	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55135423C>G	uc010rif.1	+	1	64	c.64C>G	c.(64-66)CTG>GTG	p.L22V		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	22	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GCTCCGACACCTGAGTCCAAC	0.413		NA											22	53					0	0	0	0
OR5D18	219438	broad.mit.edu	37	11	55587238	55587238	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55587238G>T	uc010rin.1	+	1	133	c.133G>T	c.(133-135)GGG>TGG	p.G45W		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	45	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				AGGGAATATTGGGTTGATTGT	0.458		NA											123	144					1.06e-61	1.58e-61	1	0
OR5D16	390144	broad.mit.edu	37	11	55606809	55606809	+	Silent	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55606809T>A	uc010rio.1	+	1	582	c.582T>A	c.(580-582)TCT>TCA	p.S194S		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_epithelial(135;0.208)				ACCCTGACTCTTATCTCAGCC	0.393		NA											68	117					0	0	0	0
OR5I1	10798	broad.mit.edu	37	11	55703661	55703661	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55703661G>T	uc010ris.1	-	1	216	c.216C>A	c.(214-216)GAC>GAA	p.D72E		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	72	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AATAGCAAAGGTCTACAAATG	0.383		NA											29	39					3.74e-18	4.85e-18	1	0
OR5F1	338674	broad.mit.edu	37	11	55761243	55761243	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55761243G>A	uc010riv.1	-	1	859	c.859C>T	c.(859-861)CCT>TCT	p.P287S		NM_003697	NP_003688	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)	2	Esophageal squamous(21;0.00448)					TAGATCAGAGGATTCAACATG	0.438		NA											25	52					0	0	0	0
OR8K5	219453	broad.mit.edu	37	11	55927515	55927515	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:55927515G>C	uc010rja.1	-	1	279	c.279C>G	c.(277-279)TCC>TCG	p.S93S		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	93	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ATGCATAATAGGAAATAGTAT	0.398		NA											67	77					0	0	0	0
OR5M9	390162	broad.mit.edu	37	11	56230837	56230837	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:56230837C>A	uc010rjj.1	-	1	41	c.41G>T	c.(40-42)GGG>GTG	p.G14V		NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M,	14	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Esophageal squamous(21;0.00448)					ACAGGTCAGCCCCAGGAGAGT	0.413		NA											16	26					5.01e-05	5.45e-05	1	0
OR5AP2	338675	broad.mit.edu	37	11	56409494	56409494	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:56409494A>T	uc001njb.1	-	1	422	c.422T>A	c.(421-423)CTC>CAC	p.L141H		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						CCCAGACACGAGAACTGGGTA	0.483		NA											25	54					0	0	0	0
P2RX3	5024	broad.mit.edu	37	11	57118349	57118349	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:57118349C>T	uc001nju.2	+	8	895	c.819C>T	c.(817-819)AGC>AGT	p.S273S		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	273	Extracellular (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0						AGAAAAGCAGCGTGTCCCCAG	0.542		NA											49	68					0	0	0	0
SERPING1	710	broad.mit.edu	37	11	57379319	57379319	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:57379319G>T	uc001nkp.1	+	7	1350	c.1159G>T	c.(1159-1161)GAG>TAG	p.E387*	SERPING1_uc001nkq.1_Nonsense_Mutation_p.E350*|SERPING1_uc010rju.1_Nonsense_Mutation_p.E335*|SERPING1_uc010rjv.1_Nonsense_Mutation_p.E392*|SERPING1_uc001nkr.1_Nonsense_Mutation_p.E387*|SERPING1_uc009ymi.1_Nonsense_Mutation_p.E396*|SERPING1_uc009ymj.1_Intron|SERPING1_uc001nks.1_Nonsense_Mutation_p.E78*	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	387					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1						GGAGAAACTGGAGATGTCCAA	0.502		NA							Hereditary_Angioedema				58	104					1.73e-40	2.51e-40	1	0
OR1S2	219958	broad.mit.edu	37	11	57970930	57970930	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:57970930A>G	uc010rkb.1	-	1	724	c.724T>C	c.(724-726)TCA>CCA	p.S242P		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S,	242	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				TGTGTGGATGATACTCCCAGG	0.453		NA											31	67					0	0	0	0
OR4D6	219983	broad.mit.edu	37	11	59224737	59224737	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:59224737T>A	uc010rku.1	+	1	304	c.304T>A	c.(304-306)TTT>ATT	p.F102I		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGCACAGATCTTTTTCTTCCA	0.463		NA											116	155					0	0	0	0
VPS37C	55048	broad.mit.edu	37	11	60906239	60906239	+	Silent	SNP	C	C	A	rs144092595	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:60906239C>A	uc001nqv.1	-	2	123	c.63G>T	c.(61-63)GCG>GCT	p.A21A	VPS37C_uc001nqw.1_Silent_p.A21A	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37C	21					cellular membrane organization|endosome transport|protein transport	late endosome membrane					0						GCTGGTCAATCGCCTCCGAGT	0.552		NA											54	104					2.45e-32	3.45e-32	1	0
AHNAK	79026	broad.mit.edu	37	11	62299641	62299641	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:62299641G>C	uc001ntl.2	-	5	2548	c.2248C>G	c.(2248-2250)CCC>GCC	p.P750A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	750					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				TTCATCTTGGGCATCTTCAAG	0.517		NA											152	263					0	0	0	0
GANAB	23193	broad.mit.edu	37	11	62398539	62398539	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:62398539G>A	uc001nub.2	-	10	1146	c.1113C>T	c.(1111-1113)TCC>TCT	p.S371S	GANAB_uc001nua.2_Silent_p.S393S|GANAB_uc001nuc.2_Silent_p.S274S|GANAB_uc010rma.1_Silent_p.S279S|GANAB_uc010rmb.1_Silent_p.S257S	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	371					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5						CATCAGAGATGGAGGGCCCCA	0.512		NA											173	225					0	0	0	0
STIP1	10963	broad.mit.edu	37	11	63967640	63967640	+	Splice_Site	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:63967640G>T	uc001nyk.1	+	10	1268	c.1121_splice	c.e10-1	p.G374_splice	STIP1_uc010rnb.1_Splice_Site_p.G350_splice	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1						axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3						TTCTTCCCCAGGGGACTATCC	0.498		NA											150	203					2.46e-106	3.73e-106	1	0
KAT5	10524	broad.mit.edu	37	11	65480261	65480261	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:65480261A>G	uc001ofi.2	+	3	354	c.104A>G	c.(103-105)AAG>AGG	p.K35R	KAT5_uc001ofj.2_Missense_Mutation_p.K35R|KAT5_uc001ofk.2_Missense_Mutation_p.K68R|KAT5_uc010roo.1_Missense_Mutation_p.K68R|KAT5_uc001ofl.2_5'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	35					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity				0						CTGAGCGTGAAGGACATCAGT	0.562		NA											39	78					0	0	0	0
ADRBK1	156	broad.mit.edu	37	11	67049153	67049153	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:67049153G>T	uc009yrn.1	+	10	1046	c.780G>T	c.(778-780)GCG>GCT	p.A260A	ADRBK1_uc009yrm.1_Silent_p.A260A	NM_001619	NP_001610	P25098	ARBK1_HUMAN	beta-adrenergic receptor kinase 1	260	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TGTCATACGCGTTCCACACGC	0.672		NA											47	64					4.17e-34	5.95e-34	1	0
SHANK2	22941	broad.mit.edu	37	11	70333070	70333070	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:70333070C>A	uc001oqc.2	-	21	3406	c.3328G>T	c.(3328-3330)GAG>TAG	p.E1110*	SHANK2_uc010rqn.1_Nonsense_Mutation_p.E522*|SHANK2_uc001opz.2_Nonsense_Mutation_p.E515*|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	731					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCACATCCTCATCCCCCAGG	0.692		NA											39	654					4.05e-12	4.94e-12	1	0
SHANK2	22941	broad.mit.edu	37	11	70333674	70333674	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:70333674G>A	uc001oqc.2	-	21	2802	c.2724C>T	c.(2722-2724)TGC>TGT	p.C908C	SHANK2_uc010rqn.1_Silent_p.C320C|SHANK2_uc001opz.2_Silent_p.C313C|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	529	Pro-rich.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GGGACTTGGGGCAGTTGTAAG	0.622		NA											29	279					0	0	0	0
ME3	10873	broad.mit.edu	37	11	86161369	86161369	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:86161369C>A	uc001pbz.2	-	8	1245	c.991G>T	c.(991-993)GTG>TTG	p.V331L	ME3_uc001pca.2_Missense_Mutation_p.V331L|ME3_uc009yvk.2_Missense_Mutation_p.V331L|ME3_uc010rtr.1_RNA	NM_001014811	NP_001014811	Q16798	MAON_HUMAN	mitochondrial malic enzyme 3 precursor	331					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			ovary(1)	1		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AAAACAAACACGTGATTGGAA	0.502		NA											21	13					1.96e-10	2.33e-10	1	0
NAALAD2	10003	broad.mit.edu	37	11	89892474	89892474	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:89892474G>T	uc001pdf.3	+	8	1067	c.958G>T	c.(958-960)GGA>TGA	p.G320*	NAALAD2_uc009yvx.2_Intron|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_3'UTR|NAALAD2_uc001pde.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	320	Extracellular (Potential).|NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTATAGTATCGGACCTGGCTT	0.358		NA											51	24					7.77e-23	1.05e-22	1	0
HEPHL1	341208	broad.mit.edu	37	11	93844770	93844770	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:93844770C>A	uc001pep.2	+	19	3433	c.3276C>A	c.(3274-3276)AAC>AAA	p.N1092K	uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1 precursor	1092	Extracellular (Potential).|Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCCATCTAACGGTAATGATA	0.448		NA											10	5					3.86e-05	4.21e-05	1	0
CWF19L2	143884	broad.mit.edu	37	11	107299911	107299911	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:107299911T>A	uc010rvp.1	-	8	1077	c.1047A>T	c.(1045-1047)AGA>AGT	p.R349S	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	349							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GGTTAGATTCTCTTCTACACG	0.348		NA											55	27					0	0	0	0
BARX2	8538	broad.mit.edu	37	11	129306871	129306871	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:129306871C>T	uc001qfc.3	+	2	463	c.413C>T	c.(412-414)ACC>ATC	p.T138I		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	BarH-like homeobox 2	138	Homeobox.										0	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CGGAGTCGCACCATCTTCACC	0.627		NA											10	6					0	0	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343610	130343610	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:130343610G>T	uc010scd.1	+	8	2747	c.2747G>T	c.(2746-2748)CGC>CTC	p.R916L		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	a disintegrin-like and metalloprotease	916	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|pancreas(1)|lung(1)|skin(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TTTCAGAGGCGCTCACTCAAG	0.697		NA											38	12					2.45e-15	3.1e-15	1	0
OPCML	4978	broad.mit.edu	37	11	132527042	132527042	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:132527042T>A	uc001qgs.2	-	2	390	c.340A>T	c.(340-342)ACC>TCC	p.T114S	OPCML_uc001qgu.2_Missense_Mutation_p.T107S|OPCML_uc010sck.1_Missense_Mutation_p.T114S|OPCML_uc001qgt.2_Missense_Mutation_p.T114S|OPCML_uc010scl.1_Missense_Mutation_p.T73S	NM_002545	NP_002536	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion	114	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			ovary(2)|skin(1)	3	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		ACAGAGCAGGTGTACGGACCT	0.507		NA											65	30					0	0	0	0
CD163	9332	broad.mit.edu	37	12	7636217	7636217	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:7636217C>G	uc001qsz.3	-	12	2962	c.2834G>C	c.(2833-2835)TGG>TCG	p.W945S	CD163_uc001qta.3_Missense_Mutation_p.W945S|CD163_uc009zfw.2_Missense_Mutation_p.W978S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	945	SRCR 9.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						ACCTCCATGCCAGATCTCCAC	0.478		NA											35	41					0	0	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954553	10954553	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:10954553A>G	uc001qyv.2	-	1	674	c.617T>C	c.(616-618)CTC>CCC	p.L206P		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	206	Helical; Name=5; (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			skin(1)	1						CCGCAGGGAGAGGATCAAGAG	0.498		NA											24	32					0	0	0	0
TAS2R19	259294	broad.mit.edu	37	12	11174609	11174609	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:11174609A>C	uc010shj.1	-	1	562	c.562T>G	c.(562-564)TTT>GTT	p.F188V	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	188	Helical; Name=5; (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1						CTCAGAGTAAAGGGTATGAGG	0.393		NA											110	153					0	0	0	0
PRB2	653247	broad.mit.edu	37	12	11546131	11546131	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:11546131G>A	uc010shk.1	-	3	916	c.881C>T	c.(880-882)TCC>TTC	p.S294F		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			AGAACTTCGGGACTTGCTGCC	0.602		NA											20	731					0	0	0	0
PDE3A	5139	broad.mit.edu	37	12	20806882	20806882	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:20806882G>C	uc001reh.1	+	15	2949	c.2927G>C	c.(2926-2928)GGT>GCT	p.G976A		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	phosphodiesterase 3A	976	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)	4	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TATTTCTAGGGTGATGAAGAG	0.428		NA											45	89					0	0	0	0
MLL2	8085	broad.mit.edu	37	12	49433007	49433007	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:49433007G>A	uc001rta.3	-	33	8364	c.8364C>T	c.(8362-8364)AGC>AGT	p.S2788S		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2788					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						AGCCTCACCGGCTGTTCACAT	0.567		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			4	148					0	0	0	0
GALNT6	11226	broad.mit.edu	37	12	51753071	51753071	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:51753071C>A	uc001ryk.2	-	7	1438	c.1213G>T	c.(1213-1215)GTA>TTA	p.V405L	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.V405L|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	405	Catalytic subdomain B.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						ACATGGCCTACGACAGAGCAG	0.592		NA											121	172					2.56e-62	3.83e-62	1	0
OR6C74	254783	broad.mit.edu	37	12	55641868	55641868	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:55641868T>A	uc010spg.1	+	1	797	c.797T>A	c.(796-798)GTG>GAG	p.V266E		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C,	266	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1						AAAGAAAGAGTGTCATTAAAT	0.383		NA											69	79					0	0	0	0
TMEM19	55266	broad.mit.edu	37	12	72090220	72090220	+	Silent	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:72090220A>G	uc001sws.2	+	3	832	c.249A>G	c.(247-249)CTA>CTG	p.L83L	TMEM19_uc001swr.1_Silent_p.L69L|TMEM19_uc009zru.1_RNA	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	transmembrane protein 19	83						integral to membrane					0		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TTTCAGGGCTAGTCGTTGGAT	0.303		NA											45	99					0	0	0	0
TBC1D15	64786	broad.mit.edu	37	12	72278758	72278758	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:72278758A>G	uc001swu.2	+	5	586	c.577A>G	c.(577-579)AAA>GAA	p.K193E	TBC1D15_uc009zrv.2_Missense_Mutation_p.K72E|TBC1D15_uc010stt.1_Missense_Mutation_p.K179E|TBC1D15_uc001swv.2_Missense_Mutation_p.K193E|TBC1D15_uc001sww.2_Intron	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	171							protein binding|Rab GTPase activator activity				0						AGGAGATAGCAAACTACTGAT	0.358		NA											51	96					0	0	0	0
NAV3	89795	broad.mit.edu	37	12	78400963	78400963	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:78400963A>G	uc001syp.2	+	8	1818	c.1645A>G	c.(1645-1647)AAA>GAA	p.K549E	NAV3_uc001syo.2_Missense_Mutation_p.K549E	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	549						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						CACAGCAAGCAAAGAGTCTGA	0.463		NA								HNSCC(70;0.22)			43	61					0	0	0	0
SLC6A15	55117	broad.mit.edu	37	12	85255560	85255560	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:85255560G>A	uc001szv.2	-	12	2537	c.2044C>T	c.(2044-2046)CCG>TCG	p.P682S	SLC6A15_uc010sul.1_Missense_Mutation_p.P575S|SLC6A15_uc001szw.1_3'UTR	NM_182767	NP_877499	Q9H2J7	S6A15_HUMAN	solute carrier family 6, member 15 isoform 1	682	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			pancreas(2)|ovary(1)	3						ATCTCGCTCGGTATTTTTCCG	0.438		NA											90	148					0	0	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85450746	85450746	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:85450746G>T	uc001tac.2	+	8	2286	c.2175G>T	c.(2173-2175)ATG>ATT	p.M725I	LRRIQ1_uc001tab.1_Missense_Mutation_p.M725I|LRRIQ1_uc001taa.1_Missense_Mutation_p.M700I	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	725										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		CTGATAGCATGACCTGCTGTG	0.358		NA											236	352					2.42e-132	3.69e-132	1	0
MYO1H	283446	broad.mit.edu	37	12	109872840	109872840	+	Splice_Site	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:109872840A>G	uc010sxn.1	+	20	2016	c.2016_splice	c.e20-2	p.K672_splice		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H							myosin complex	motor activity				0						TTTCACTTCTAGAACCAAAAT	0.254		NA											16	27					0	0	0	0
TBX5	6910	broad.mit.edu	37	12	114836427	114836427	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:114836427G>C	uc001tvo.2	-	5	956	c.461C>G	c.(460-462)TCC>TGC	p.S154C	TBX5_uc001tvp.2_Missense_Mutation_p.S154C|TBX5_uc001tvq.2_Missense_Mutation_p.S104C|TBX5_uc010syv.1_Missense_Mutation_p.S154C	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	154	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TTTCTGGAAGGAGACGAGCTG	0.567		NA											9	19					0	0	0	0
FBXO21	23014	broad.mit.edu	37	12	117603318	117603318	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:117603318T>C	uc001twk.2	-	9	1337	c.1298A>G	c.(1297-1299)TAC>TGC	p.Y433C	FBXO21_uc001twj.2_Missense_Mutation_p.Y433C|FBXO21_uc009zwq.2_Missense_Mutation_p.Y373C|FBXO21_uc001twl.1_Missense_Mutation_p.Y46C	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	433					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		CAGGTGGAAGTAAAGCCTGGC	0.512		NA											94	132					0	0	0	0
GOLGA3	2802	broad.mit.edu	37	12	133363016	133363016	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:133363016T>C	uc001ukz.1	-	15	3591	c.3032A>G	c.(3031-3033)CAG>CGG	p.Q1011R	GOLGA3_uc001ula.1_Missense_Mutation_p.Q1011R|GOLGA3_uc001ulb.2_Missense_Mutation_p.Q1011R	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	1011	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)		GAGGGCCTCCTGCAGGCGGCG	0.652		NA											10	28					0	0	0	0
RNF6	6049	broad.mit.edu	37	13	26793609	26793609	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:26793609G>C	uc001uqo.2	-	3	469	c.178C>G	c.(178-180)CTT>GTT	p.L60V	RNF6_uc001uqn.1_Missense_Mutation_p.L60V|RNF6_uc010aak.2_Missense_Mutation_p.L60V|RNF6_uc001uqp.2_Missense_Mutation_p.L60V|RNF6_uc001uqq.2_Missense_Mutation_p.L60V|RNF6_uc010tdk.1_Translation_Start_Site	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	ring finger protein 6	60					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GTGCCTAAAAGATTATGGTCT	0.383		NA											58	73					0	0	0	0
MTIF3	219402	broad.mit.edu	37	13	28011271	28011271	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:28011271G>A	uc001urh.2	-	2	1824	c.600C>T	c.(598-600)GAC>GAT	p.D200D	MTIF3_uc001uri.2_Silent_p.D200D|MTIF3_uc001urj.2_Silent_p.D200D|MTIF3_uc001urk.2_Silent_p.D200D	NM_152912	NP_690876	Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	200					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			ovary(1)|skin(1)	2		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TTTCTGACACGTCTACATTTT	0.323		NA											26	46					0	0	0	0
C13orf36	400120	broad.mit.edu	37	13	37269514	37269514	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:37269514C>A	uc001uvt.3	+	2	745	c.299C>A	c.(298-300)TCC>TAC	p.S100Y		NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	100						integral to membrane				skin(1)	1						TCTCAGAGGTCCACTTTTTCA	0.473		NA											32	86					7.11e-15	8.97e-15	1	0
ESD	2098	broad.mit.edu	37	13	47351749	47351749	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:47351749C>A	uc001vbn.2	-	9	793	c.610G>T	c.(610-612)GCT>TCT	p.A204S	ESD_uc001vbo.2_Missense_Mutation_p.A204S|ESD_uc001vbp.1_Missense_Mutation_p.A62S	NM_001984	NP_001975	P10768	ESTD_HUMAN	esterase D/formylglutathione hydrolase	204						cytoplasmic membrane-bounded vesicle	carboxylesterase activity|S-formylglutathione hydrolase activity			ovary(1)	1		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	AGGTGGGTAGCATCATAAGCC	0.343		NA											71	120					4.83e-46	7.13e-46	1	0
ATP7B	540	broad.mit.edu	37	13	52520593	52520593	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:52520593G>T	uc001vfw.2	-	13	3044	c.2887C>A	c.(2887-2889)CAG>AAG	p.Q963K	ATP7B_uc010adv.2_Missense_Mutation_p.Q533K|ATP7B_uc001vfx.2_Missense_Mutation_p.Q756K|ATP7B_uc001vfy.2_Missense_Mutation_p.Q852K|ATP7B_uc010tgt.1_Intron|ATP7B_uc010tgu.1_Missense_Mutation_p.Q915K|ATP7B_uc010tgv.1_Missense_Mutation_p.Q885K|ATP7B_uc001vfv.2_Missense_Mutation_p.Q235K|ATP7B_uc010tgs.1_Missense_Mutation_p.Q235K	NM_000053	NP_000044	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	963	Extracellular (Potential).				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACCTCTGTCTGGGAGATGTGC	0.537		NA							Wilson_disease				24	39					3.29e-13	4.07e-13	1	0
KLHL1	57626	broad.mit.edu	37	13	70413204	70413204	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:70413204G>T	uc001vip.2	-	6	2112	c.1318C>A	c.(1318-1320)CCA>ACA	p.P440T	KLHL1_uc010thm.1_Missense_Mutation_p.P379T	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	440					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTTCTTTCTGGCAATAGATGG	0.353		NA											69	86					1.26e-45	1.85e-45	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454928	84454928	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:84454928C>A	uc001vlk.2	-	1	1601	c.715G>T	c.(715-717)GTG>TTG	p.V239L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	slit and trk like 1 protein precursor	239	Extracellular (Potential).|LRRCT 1.					integral to membrane				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TCGCAGACCACTCGGCCGATC	0.527		NA											36	53					2.64e-12	3.24e-12	1	0
ERCC5	2073	broad.mit.edu	37	13	103519118	103519118	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:103519118G>T	uc001vpw.2	+	11	2899	c.2456G>T	c.(2455-2457)CGG>CTG	p.R819L	ERCC5_uc001vpu.1_Missense_Mutation_p.R1273L|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.R651L	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	819	I-domain.				negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTTGGAGCGCGGCATGTCTAT	0.428		NA	Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				32	46					3.11e-16	3.99e-16	1	0
TTC5	91875	broad.mit.edu	37	14	20768960	20768960	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:20768960C>A	uc001vwt.2	-	3	259	c.202G>T	c.(202-204)GCA>TCA	p.A68S	TTC5_uc001vwu.2_5'UTR	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	68	TPR 1.				DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGAACTTGTGCCTTGCCCTGG	0.438		NA											236	181					4.91e-105	7.44e-105	1	0
NDRG2	57447	broad.mit.edu	37	14	21491405	21491405	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:21491405C>T	uc001vyy.2	-	3	220	c.70G>A	c.(70-72)GCC>ACC	p.A24T	NDRG2_uc010tll.1_Missense_Mutation_p.A34T|NDRG2_uc001vyt.2_5'Flank|NDRG2_uc001vyu.2_Missense_Mutation_p.A24T|NDRG2_uc001vyv.2_Missense_Mutation_p.A24T|NDRG2_uc001vyw.2_Missense_Mutation_p.A24T|NDRG2_uc001vzb.2_5'UTR|NDRG2_uc001vyx.2_Missense_Mutation_p.A24T|NDRG2_uc001vza.2_Missense_Mutation_p.A24T|NDRG2_uc001vyz.2_Missense_Mutation_p.A24T|NDRG2_uc001vzc.2_Missense_Mutation_p.A24T|NDRG2_uc001vze.2_Missense_Mutation_p.A24T|NDRG2_uc001vzd.2_Missense_Mutation_p.A24T|NDRG2_uc001vzg.2_Missense_Mutation_p.A24T|NDRG2_uc001vzf.2_Missense_Mutation_p.A24T|NDRG2_uc010aig.2_Missense_Mutation_p.A24T	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	N-myc downstream-regulated gene 2 isoform a	24					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				ovary(1)|breast(1)	2	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATAACCTTGGCCGCCTCAGGC	0.537		NA											3	43					0	0	0	0
MYH7	4625	broad.mit.edu	37	14	23886825	23886825	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:23886825G>A	uc001wjx.2	-	31	4346	c.4240C>T	c.(4240-4242)CTG>TTG	p.L1414L		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1414	Potential.		L -> M (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTCTTCTCCAGCGAGGAGCAC	0.617		NA											128	81					0	0	0	0
SSTR1	6751	broad.mit.edu	37	14	38679295	38679295	+	Missense_Mutation	SNP	T	T	A	rs149523434		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:38679295T>A	uc001wul.1	+	3	1318	c.701T>A	c.(700-702)CTG>CAG	p.L234Q	SSTR1_uc010amu.1_Intron	NM_001049	NP_001040	P30872	SSR1_HUMAN	somatostatin receptor 1	234	Helical; Name=5; (Potential).				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			central_nervous_system(3)|ovary(1)|lung(1)	5	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GGCTTCCTGCTGCCCGTGGGG	0.622		NA											32	66					0	0	0	0
PTGER2	5732	broad.mit.edu	37	14	52781369	52781369	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:52781369G>A	uc001wzr.2	+	1	354	c.103G>A	c.(103-105)GGG>AGG	p.G35R		NM_000956	NP_000947	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	35	Helical; Name=1; (Potential).					integral to plasma membrane	prostaglandin E receptor activity			lung(1)|breast(1)	2	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	GTTCTCGGCCGGGGTGCTGGG	0.682		NA											25	8					0	0	0	0
YLPM1	56252	broad.mit.edu	37	14	75230942	75230942	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:75230942G>T	uc001xqj.3	+	1	874	c.750G>T	c.(748-750)CCG>CCT	p.P250P		NM_019589	NP_062535	P49750	YLPM1_HUMAN	YLP motif containing 1	90	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CACCACCACCGTCCGCCCCCC	0.567		NA											101	54					8.65e-51	1.28e-50	1	0
MLH3	27030	broad.mit.edu	37	14	75500173	75500173	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:75500173C>G	uc001xrd.1	-	7	3880	c.3664G>C	c.(3664-3666)GTG>CTG	p.V1222L	MLH3_uc001xre.1_Intron|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	1222					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGCTGATCCACCAGCACGAGC	0.478		NA						MMR					25	71					0	0	0	0
GALC	2581	broad.mit.edu	37	14	88434807	88434807	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:88434807T>C	uc001xvt.2	-	8	1179	c.780A>G	c.(778-780)GCA>GCG	p.A260A	GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Silent_p.A234A|GALC_uc010tvy.1_Silent_p.A237A|GALC_uc010tvz.1_Silent_p.A204A|GALC_uc001xvu.1_Silent_p.A260A	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	260					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						TTGCATCTTTTGCTGAATGGG	0.413		NA											73	94					0	0	0	0
ZC3H14	79882	broad.mit.edu	37	14	89041117	89041117	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:89041117G>T	uc001xww.2	+	7	1167	c.942G>T	c.(940-942)GAG>GAT	p.E314D	ZC3H14_uc010twd.1_Missense_Mutation_p.E314D|ZC3H14_uc010twe.1_Missense_Mutation_p.E314D|ZC3H14_uc001xwx.2_Missense_Mutation_p.E314D|ZC3H14_uc010twf.1_Missense_Mutation_p.E159D|ZC3H14_uc001xwy.2_Missense_Mutation_p.E280D|ZC3H14_uc010twg.1_Missense_Mutation_p.E159D|ZC3H14_uc001xxa.2_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	314						cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						ATGGAGAAGAGGAGGAAGAAG	0.413		NA											27	55					2.45e-14	3.07e-14	1	0
FAM181A	90050	broad.mit.edu	37	14	94394802	94394802	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr14:94394802G>T	uc001ybz.1	+	3	664	c.357G>T	c.(355-357)CGG>CGT	p.R119R	C14orf86_uc001yby.2_5'Flank|FAM181A_uc010aus.1_Silent_p.R57R|FAM181A_uc001yca.1_Silent_p.R57R	NM_138344	NP_612353	Q8N9Y4	F181A_HUMAN	hypothetical protein LOC90050	119											0						GGCTCCCGCGGGGCCTTCCTG	0.657		NA											21	33					7.42e-09	8.61e-09	1	0
OR4M2	390538	broad.mit.edu	37	15	22368976	22368976	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22368976C>T	uc010tzu.1	+	1	401	c.401C>T	c.(400-402)ACC>ATC	p.T134I	LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	134	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACTATGCTACCATCATGAAT	0.507		NA											91	801					0	0	0	0
OR4N4	283694	broad.mit.edu	37	15	22382664	22382664	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22382664C>A	uc001yuc.1	+	7	1173	c.192C>A	c.(190-192)GGC>GGA	p.G64G	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.G64G	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	64	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TATTTCTGGGCAACTTGGCCT	0.463		NA											67	578					1.77e-45	2.6e-45	1	0
OR4N4	283694	broad.mit.edu	37	15	22382712	22382712	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:22382712G>A	uc001yuc.1	+	7	1221	c.240G>A	c.(238-240)AGG>AGA	p.R80R	LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.R80R	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	80	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGCTCCCAGGATGTTGGTGG	0.512		NA											22	606					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24921415	24921415	+	Missense_Mutation	SNP	C	C	T	rs139493881		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:24921415C>T	uc001ywo.2	+	1	875	c.401C>T	c.(400-402)GCG>GTG	p.A134V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	134					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGTGAGCCGGCGGTCAAGGCC	0.632		NA											71	16					0	0	0	0
C15orf2	23742	broad.mit.edu	37	15	24922323	24922323	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:24922323C>A	uc001ywo.2	+	1	1783	c.1309C>A	c.(1309-1311)CTC>ATC	p.L437I		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	437	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TACTGGACCCCTCATCCTGCC	0.537		NA											114	21					2.13e-42	3.11e-42	1	0
OCA2	4948	broad.mit.edu	37	15	28230301	28230301	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:28230301T>A	uc001zbh.3	-	13	1383	c.1273A>T	c.(1273-1275)ATG>TTG	p.M425L	OCA2_uc010ayv.2_Missense_Mutation_p.M401L	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	425	Helical; (Potential).		Missing (in OCA2; mild).		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ATGATGATCATGGCCCACACC	0.577		NA							Oculocutaneous_Albinism				37	2					0	0	0	0
FBN1	2200	broad.mit.edu	37	15	48752447	48752447	+	Silent	SNP	G	G	A	rs111756438		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:48752447G>A	uc001zwx.1	-	43	5620	c.5292C>T	c.(5290-5292)CCC>CCT	p.P1764P	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1764					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACTCACCAACGGGTAAACCGG	0.393		NA											58	13					0	0	0	0
C15orf33	196951	broad.mit.edu	37	15	49663561	49663561	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:49663561G>T	uc001zxl.2	-	12	1342	c.1048C>A	c.(1048-1050)CCA>ACA	p.P350T		NM_152647	NP_689860	Q96M60	CO033_HUMAN	hypothetical protein LOC196951	350										ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TATGCTCTTGGGTTGTTCAGA	0.289		NA											188	49					3.3e-99	4.99e-99	1	0
SLC27A2	11001	broad.mit.edu	37	15	50515307	50515307	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:50515307A>G	uc001zxw.2	+	5	1350	c.1118A>G	c.(1117-1119)AAT>AGT	p.N373S	SLC27A2_uc010bes.2_Missense_Mutation_p.N320S|SLC27A2_uc001zxx.2_Missense_Mutation_p.N138S	NM_003645	NP_003636	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid	373	Cytoplasmic (Potential).				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			ovary(1)|skin(1)	2		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GGATTTATGAATTATGCGAGA	0.393		NA											52	75					0	0	0	0
UNC13C	440279	broad.mit.edu	37	15	54557618	54557618	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:54557618C>A	uc002ack.2	+	8	3742	c.3742C>A	c.(3742-3744)CAA>AAA	p.Q1248K	UNC13C_uc002acl.2_Missense_Mutation_p.Q78K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1248	C2 1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTTACAGTTCAAGTTGGAAA	0.323		NA											10	11					0.000442599	0.000473429	1	0
NOX5	79400	broad.mit.edu	37	15	69335139	69335139	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:69335139G>T	uc002ars.1	+	10	1661	c.1641G>T	c.(1639-1641)TCG>TCT	p.S547S	NOX5_uc002arp.1_Silent_p.S529S|NOX5_uc002arq.1_Silent_p.S501S|NOX5_uc010bid.1_Silent_p.S512S|NOX5_uc002arr.1_Silent_p.S519S|NOX5_uc010bie.1_Silent_p.S347S|NOX5_uc010bif.1_RNA	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	547	FAD-binding FR-type.|Cytoplasmic (Potential).|C-terminal catalytic region.				angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(1)|pancreas(1)	2						GTCAAAGGTCGTCCAAGGTAG	0.527		NA											40	7					3.62e-18	4.69e-18	1	0
KIAA1024	23251	broad.mit.edu	37	15	79749833	79749833	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:79749833G>C	uc002bew.1	+	2	1419	c.1344G>C	c.(1342-1344)AAG>AAC	p.K448N	KIAA1024_uc010unk.1_Missense_Mutation_p.K448N	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	hypothetical protein LOC23251	448						integral to membrane				pancreas(2)|ovary(1)|central_nervous_system(1)	4						ACCTGGAGAAGCATGAACCAG	0.488		NA											64	19					0	0	0	0
C15orf32	145858	broad.mit.edu	37	15	93015432	93015432	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr15:93015432C>A	uc002brc.1	+	1	526	c.54C>A	c.(52-54)GAC>GAA	p.D18E	C15orf32_uc010bod.1_RNA	NM_153040	NP_694585	Q32M92	CO032_HUMAN	hypothetical protein LOC145858	18										ovary(1)	1	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			ACCCGGCTGACCCCCAGAGTG	0.408		NA											74	16					9.21e-24	1.25e-23	1	0
STUB1	10273	broad.mit.edu	37	16	732421	732421	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:732421C>T	uc002cit.2	+	7	1255	c.844C>T	c.(844-846)CCC>TCC	p.P282S	STUB1_uc002ciu.2_Missense_Mutation_p.P210S|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1	282	U-box.				cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity				0		Hepatocellular(780;0.00335)				ACAGCTCATCCCCAACTTGGC	0.592		NA											47	64					0	0	0	0
PTX4	390667	broad.mit.edu	37	16	1536306	1536306	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:1536306G>T	uc010uvf.1	-	3	1056	c.1056C>A	c.(1054-1056)GAC>GAA	p.D352E		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	357	Pentaxin.					extracellular region	metal ion binding				0						GCCACTGGCCGTCCAGCAGCA	0.672		NA											28	31					2.13e-12	2.62e-12	1	0
CREBBP	1387	broad.mit.edu	37	16	3778856	3778856	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:3778856G>A	uc002cvv.2	-	31	6396	c.6192C>T	c.(6190-6192)CCC>CCT	p.P2064P	CREBBP_uc002cvw.2_Silent_p.P2026P	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	2064					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGAGCGCTGGGTGAGATGC	0.642		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				23	41					0	0	0	0
GLYR1	84656	broad.mit.edu	37	16	4855258	4855258	+	Silent	SNP	C	C	A	rs138196315	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:4855258C>A	uc002cxx.3	-	16	1678	c.1641G>T	c.(1639-1641)GTG>GTT	p.V547V	ROGDI_uc002cxv.2_5'Flank|ROGDI_uc010bua.2_5'Flank|ROGDI_uc002cxw.2_5'Flank|ROGDI_uc010bub.1_5'Flank|ROGDI_uc010uxu.1_5'Flank|GLYR1_uc002cxy.2_RNA|GLYR1_uc002cxz.1_Silent_p.V461V|GLYR1_uc002cya.2_Silent_p.V541V|GLYR1_uc010uxv.1_Silent_p.V466V	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	cytokine-like nuclear factor n-pac	547					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity				0						AGGCTCGGTACACGGCGGACA	0.592		NA											11	26					6.72e-11	8.04e-11	1	0
ACSM5	54988	broad.mit.edu	37	16	20430642	20430642	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:20430642G>A	uc002dhe.2	+	4	655	c.508G>A	c.(508-510)GAC>AAC	p.D170N	ACSM5_uc002dhd.1_Missense_Mutation_p.D170N	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	170					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			ovary(2)	2						TATCACCAGTGACTCCCTAGC	0.582		NA											39	55					0	0	0	0
ACSM3	6296	broad.mit.edu	37	16	20787221	20787221	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:20787221C>A	uc002dhr.2	+	3	467	c.280C>A	c.(280-282)CGA>AGA	p.R94R	ACSM3_uc002dhq.2_Silent_p.R94R|ACSM3_uc010vba.1_Silent_p.R86R	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	SA hypertension-associated homolog isoform 1	94					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			ovary(1)	1						AGAAGAGATGCGATGGAGTTT	0.413		NA											111	144					5.67e-43	8.3e-43	1	0
ZP2	7783	broad.mit.edu	37	16	21213115	21213115	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:21213115C>T	uc002dii.2	-	13	1416	c.1416G>A	c.(1414-1416)ATG>ATA	p.M472I	ZP2_uc010bwn.1_Missense_Mutation_p.M502I	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	472	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)		TGTTTAGTAGCATGTCATTCC	0.413		NA											83	120					0	0	0	0
PRKCB	5579	broad.mit.edu	37	16	23847649	23847649	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:23847649C>G	uc002dmd.2	+	1	350	c.153C>G	c.(151-153)AGC>AGG	p.S51R	PRKCB_uc002dme.2_Missense_Mutation_p.S51R	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	51	Phorbol-ester/DAG-type 1.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)	CCTTCTGCAGCCACTGCACCG	0.627		NA											45	73					0	0	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24980015	24980015	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:24980015C>A	uc002dnb.2	-	5	444	c.351G>T	c.(349-351)AAG>AAT	p.K117N	ARHGAP17_uc002dnc.2_Missense_Mutation_p.K117N|ARHGAP17_uc010vcf.1_Translation_Start_Site|ARHGAP17_uc002dnf.2_Missense_Mutation_p.K25N|ARHGAP17_uc002dng.1_Missense_Mutation_p.K117N	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	117	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		CCACGATCTCCTTCTCAACAA	0.537		NA											86	109					2.58e-40	3.74e-40	1	0
RBL2	5934	broad.mit.edu	37	16	53503839	53503839	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:53503839C>G	uc002ehi.3	+	15	2105	c.1987C>G	c.(1987-1989)CCA>GCA	p.P663A	RBL2_uc010vgv.1_Missense_Mutation_p.P589A|RBL2_uc002ehj.2_Missense_Mutation_p.P373A|RBL2_uc010vgw.1_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	663	Spacer.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						CATAACATCTCCAACCACATT	0.453		NA											69	58					0	0	0	0
CIRH1A	84916	broad.mit.edu	37	16	69184450	69184450	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:69184450G>T	uc002ews.3	+	7	845	c.749G>T	c.(748-750)AGT>ATT	p.S250I	CIRH1A_uc002ewr.2_Missense_Mutation_p.S250I|CIRH1A_uc002ewt.3_Missense_Mutation_p.S167I|CIRH1A_uc010cfi.2_Missense_Mutation_p.S167I|CIRH1A_uc010cfj.1_Missense_Mutation_p.S69I	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	250	WD 6.					nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CAAGAAGACAGTTTCGTGGTG	0.488		NA									OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	485	93					1.38e-241	2.11e-241	1	0
ZNF23	7571	broad.mit.edu	37	16	71483245	71483245	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:71483245T>C	uc002faf.2	-	6	1497	c.683A>G	c.(682-684)GAG>GGG	p.E228G	ZNF23_uc002fad.2_Missense_Mutation_p.E170G|ZNF23_uc002fae.2_Missense_Mutation_p.E170G|ZNF23_uc010vmf.1_Missense_Mutation_p.E170G|ZNF23_uc002fag.2_Missense_Mutation_p.E170G|ZNF23_uc002fah.2_Missense_Mutation_p.E228G|ZNF23_uc002fai.2_Missense_Mutation_p.E267G	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	228	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTTCCCACACTCCACACATTT	0.453		NA											51	592					0	0	0	0
BCAR1	9564	broad.mit.edu	37	16	75269450	75269450	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:75269450C>A	uc002fdv.2	-	5	1470	c.1347G>T	c.(1345-1347)CCG>CCT	p.P449P	BCAR1_uc002fdt.2_5'UTR|BCAR1_uc002fdu.2_Silent_p.P239P|BCAR1_uc010cgu.2_Silent_p.P438P|BCAR1_uc010vna.1_Silent_p.P447P|BCAR1_uc010vnb.1_Silent_p.P495P|BCAR1_uc002fdw.2_Silent_p.P449P|BCAR1_uc010vnc.1_Silent_p.P301P|BCAR1_uc010vnd.1_Silent_p.P467P|BCAR1_uc002fdx.2_Silent_p.P467P	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	449	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTCCCGGCCCGGCCCTGCCA	0.697		NA											17	3					7.08e-05	7.65e-05	1	0
C16orf46	123775	broad.mit.edu	37	16	81094970	81094970	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr16:81094970C>T	uc002fgc.3	-	4	1243	c.984G>A	c.(982-984)CAG>CAA	p.Q328Q	C16orf46_uc010chf.2_Silent_p.Q328Q|C16orf46_uc010vno.1_Silent_p.Q55Q	NM_152337	NP_689550	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46 isoform 2	328											0						CTCCCCGTTTCTGCAGAAGCT	0.542		NA											72	120					0	0	0	0
TSR1	55720	broad.mit.edu	37	17	2238189	2238189	+	Silent	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:2238189T>A	uc002fuj.2	-	5	1515	c.558A>T	c.(556-558)ACA>ACT	p.T186T	SGSM2_uc002fum.3_5'Flank|SGSM2_uc010vqw.1_5'Flank|SGSM2_uc002fun.3_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation	186					ribosome assembly	nucleolus	protein binding			ovary(1)	1						GGACAGCTAGTGCTGTAAGCG	0.453		NA											80	98					0	0	0	0
NEURL4	84461	broad.mit.edu	37	17	7230998	7230998	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:7230998C>T	uc002gga.1	-	2	495	c.488G>A	c.(487-489)CGC>CAC	p.R163H	NEURL4_uc002ggb.1_Missense_Mutation_p.R163H|NEURL4_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	163	NHR 1.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGCAACTGTGCGCTCCACGCC	0.642		NA											65	95					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578523	7578523	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:7578523T>G	uc002gim.2	-	5	601	c.407A>C	c.(406-408)CAA>CCA	p.Q136P	TP53_uc002gig.1_Missense_Mutation_p.Q136P|TP53_uc002gih.2_Missense_Mutation_p.Q136P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Q4P|TP53_uc010cng.1_Missense_Mutation_p.Q4P|TP53_uc002gii.1_Missense_Mutation_p.Q4P|TP53_uc010cnh.1_Missense_Mutation_p.Q136P|TP53_uc010cni.1_Missense_Mutation_p.Q136P|TP53_uc002gij.2_Missense_Mutation_p.Q136P|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Q43P|TP53_uc002gio.2_Missense_Mutation_p.Q4P|TP53_uc010vug.1_Missense_Mutation_p.Q97P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	136	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> E (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.Q136*(28)|p.0?(7)|p.Q136H(5)|p.Q136Q(4)|p.Q136P(3)|p.Q136E(3)|p.Q136fs*13(2)|p.N131fs*27(2)|p.Q136fs*34(2)|p.Q136R(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.Q136K(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.Q136_K139delQLAK(1)|p.C135_Q136insX(1)|p.C135_Q136insXXXXXX(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)		CTTGGCCAGTTGGCAAAACAT	0.562		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-Fraumeni_syndrome|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)			24	39					0	0	0	0
PER1	5187	broad.mit.edu	37	17	8044494	8044495	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:8044494_8044495TT>AA	uc002gkd.2	-	23	4002_4003	c.3764_3765AA>TT	c.(3763-3765)CAA>CTT	p.Q1255L	PER1_uc010cns.2_Missense_Mutation_p.Q129L|PER1_uc010vuq.1_RNA	NM_002616	NP_002607	O15534	PER1_HUMAN	period 1	1255	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						TGGCCCCGCCTTGGGCCTCCTC	0.639		NA	T	ETV6	AML|CMML			Other_conserved_DNA_damage_response_genes					179	268					0	0	0	0
PIK3R6	146850	broad.mit.edu	37	17	8732225	8732225	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:8732225G>T	uc002glq.1	-	11	1212	c.972C>A	c.(970-972)CTC>CTA	p.L324L	PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	324					platelet activation	cytosol					0						GGTCCGGCCGGAGGCCCTGCA	0.657		NA											14	23					1.58e-08	1.83e-08	1	0
MAP2K3	5606	broad.mit.edu	37	17	21204272	21204272	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:21204272C>G	uc002gys.2	+	5	631	c.366C>G	c.(364-366)TAC>TAG	p.Y122*	MAP2K3_uc002gyt.2_Nonsense_Mutation_p.Y93*|MAP2K3_uc002gyu.2_Nonsense_Mutation_p.Y93*	NM_145109	NP_659731	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	122	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0				COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACTGTTTCTACACTGTCACCT	0.592		NA											4	183					0	0	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319071	21319071	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:21319071G>T	uc002gyv.1	+	3	1122	c.417G>T	c.(415-417)GAG>GAT	p.E139D		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	139				E -> K (in Ref. 2; AAC50615).	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	TCTCCATCGAGACGCAGACCA	0.672		NA								Prostate(3;0.18)			7	22					0.000442599	0.000473429	1	0
ATAD5	79915	broad.mit.edu	37	17	29220783	29220783	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:29220783T>A	uc002hfs.1	+	21	5258	c.4912T>A	c.(4912-4914)TGT>AGT	p.C1638S		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1638					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGAAAAAAATGTTCTGCCCT	0.378		NA											106	180					0	0	0	0
MYO1D	4642	broad.mit.edu	37	17	31107692	31107692	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:31107692C>T	uc002hho.1	-	2	218	c.206G>A	c.(205-207)CGT>CAT	p.R69H	MYO1D_uc002hhp.1_Missense_Mutation_p.R69H|MYO1D_uc010wcb.1_Missense_Mutation_p.R69H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	69	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ATACAGCTCACGGCCTTTATA	0.448		NA											67	73					0	0	0	0
UNC45B	146862	broad.mit.edu	37	17	33501357	33501357	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr17:33501357C>G	uc002hja.2	+	14	2030	c.1933C>G	c.(1933-1935)CTC>GTC	p.L645V	UNC45B_uc002hjb.2_Missense_Mutation_p.L643V|UNC45B_uc002hjc.2_Missense_Mutation_p.L643V|UNC45B_uc010cto.2_Missense_Mutation_p.L564V	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	cardiomyopathy associated 4 isoform 1	645					cell differentiation|muscle organ development	cytosol	binding			ovary(3)|central_nervous_system(2)|breast(1)	6		Ovarian(249;0.17)				TAGTGCCATCCTCACTGACCA	0.597		NA											4	108					0	0	0	0
SMCHD1	23347	broad.mit.edu	37	18	2751280	2751280	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:2751280T>C	uc002klm.3	+	33	4359	c.4170T>C	c.(4168-4170)TTT>TTC	p.F1390F	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1390					chromosome organization		ATP binding				0						TGACAGATTTTATGATTAGTG	0.303		NA											17	334					0	0	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6882171	6882172	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:6882171_6882172TG>GT	uc010wzi.1	+	10	1033_1034	c.795_796TG>GT	c.(793-798)GCTGAT>GCGTAT	p.D266Y	ARHGAP28_uc002knc.2_Missense_Mutation_p.D391Y|ARHGAP28_uc002knd.2_Missense_Mutation_p.D284Y|ARHGAP28_uc002kne.2_Missense_Mutation_p.D284Y|ARHGAP28_uc002knf.2_Missense_Mutation_p.D275Y			B4DXL2	B4DXL2_HUMAN	SubName: Full=Putative uncharacterized protein ARHGAP28;	266					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)				AGTTTAATGCTGATAAATTTAA	0.396		NA											131	80					0	0	0	0
LAMA1	284217	broad.mit.edu	37	18	7015791	7015791	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:7015791T>C	uc002knm.2	-	22	3150	c.3056A>G	c.(3055-3057)CAC>CGC	p.H1019R	LAMA1_uc010wzj.1_Missense_Mutation_p.H495R	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	1019	Laminin EGF-like 11.				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)	ACCCTGTGTGTGAGGGGGGCA	0.542		NA											70	259					0	0	0	0
PPP4R1	9989	broad.mit.edu	37	18	9563520	9563520	+	Silent	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:9563520T>A	uc002koe.1	-	12	1720	c.1602A>T	c.(1600-1602)CTA>CTT	p.L534L	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Silent_p.L380L|PPP4R1_uc002kod.1_Silent_p.L517L|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	534	HEAT 10.				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1						TGGAAGCACGTAGTGCAGCGG	0.403		NA											47	163					0	0	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14852103	14852103	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:14852103G>A	uc010dlo.2	+	36	3983	c.3803G>A	c.(3802-3804)CGA>CAA	p.R1268Q	ANKRD30B_uc010xal.1_Missense_Mutation_p.R410Q	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1353										ovary(1)|skin(1)	2						CAAAGAGACCGATGTGAAACA	0.388		NA											7	32					0	0	0	0
ROCK1	6093	broad.mit.edu	37	18	18600198	18600198	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:18600198C>A	uc002kte.2	-	12	2216	c.1275G>T	c.(1273-1275)CAG>CAT	p.Q425H		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	425	Interaction with FHOD1.|Potential.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)					GCAAACTTTCCTGCTTTAATT	0.269		NA											21	48					7.45e-12	9.03e-12	1	0
NPC1	4864	broad.mit.edu	37	18	21124402	21124402	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:21124402C>A	uc002kum.3	-	13	2310	c.2036G>T	c.(2035-2037)GGG>GTG	p.G679V	NPC1_uc010xaz.1_Missense_Mutation_p.G412V|NPC1_uc010xba.1_Missense_Mutation_p.G524V	NM_000271	NP_000262	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1 precursor	679	SSD.|Helical; (Potential).				autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			ovary(2)	2	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAAGGGCAACCCAATGTAGCT	0.547		NA											161	53					1.12e-49	1.65e-49	1	0
ASXL3	80816	broad.mit.edu	37	18	31318971	31318971	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:31318971G>A	uc010dmg.1	+	11	1658	c.1603G>A	c.(1603-1605)GAT>AAT	p.D535N	ASXL3_uc002kxq.2_Missense_Mutation_p.D242N	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AGTTGTTATCGATCAGTTAGA	0.393		NA											14	57					0	0	0	0
ASXL3	80816	broad.mit.edu	37	18	31326256	31326256	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:31326256G>T	uc010dmg.1	+	12	6499	c.6444G>T	c.(6442-6444)CAG>CAT	p.Q2148H	ASXL3_uc002kxq.2_Missense_Mutation_p.Q1855H	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	2148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						AGCAACAACAGCAGCTCTGTG	0.433		NA											225	117					1.76e-104	2.66e-104	1	0
SYT4	6860	broad.mit.edu	37	18	40850486	40850486	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr18:40850486G>T	uc002law.2	-	4	1467	c.1098C>A	c.(1096-1098)GGC>GGA	p.G366G	SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.G348G|SYT4_uc010dnh.2_RNA	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	366	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			skin(5)	5						TATCTTCAAGGCCCTCACAAG	0.433		NA											54	35					1.67e-32	2.36e-32	1	0
CDC34	997	broad.mit.edu	37	19	532007	532007	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:532007G>A	uc002lov.2	+	1	275	c.76G>A	c.(76-78)GAG>AAG	p.E26K		NM_004359	NP_004350	P49427	UB2R1_HUMAN	ubiquitin-conjugating enzyme Cdc34	26					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity				0		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCCGGTCGAGGGATTCCG	0.672		NA											3	3					0	0	0	0
UBXN6	80700	broad.mit.edu	37	19	4454069	4454069	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:4454069C>A	uc002man.1	-	2	201	c.105G>T	c.(103-105)AAG>AAT	p.K35N	UBXN6_uc010dty.1_5'UTR|UBXN6_uc002mam.1_5'UTR	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	35						microtubule organizing center|nucleus	protein binding				0						GCTGGTTGGGCTTCTCTTTGT	0.657		NA											143	34					3.37e-63	5.05e-63	1	0
MUC16	94025	broad.mit.edu	37	19	9071035	9071035	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:9071035T>C	uc002mkp.2	-	3	16615	c.16411A>G	c.(16411-16413)ATC>GTC	p.I5471V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5473	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GTCTGAGAGATATTAGGAGTT	0.507		NA											140	21					0	0	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807871	15807871	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:15807871G>A	uc002nbl.2	+	13	1612	c.1551G>A	c.(1549-1551)GAG>GAA	p.E517E		NM_023944	NP_076433			cytochrome P450, family 4, subfamily F,											skin(3)|ovary(2)|central_nervous_system(2)	7	Acute lymphoblastic leukemia(2;0.0367)					TGCGGGTGGAGCCCCTGAATG	0.567		NA											45	81					0	0	0	0
ISYNA1	51477	broad.mit.edu	37	19	18545774	18545774	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:18545774G>A	uc002njd.1	-	11	1676	c.1626C>T	c.(1624-1626)ACC>ACT	p.T542T	ISYNA1_uc002nja.1_Silent_p.T414T|ISYNA1_uc002njb.1_Silent_p.T460T|ISYNA1_uc002njc.1_Silent_p.T392T|ISYNA1_uc010xqh.1_Silent_p.T340T|ISYNA1_uc002nje.1_Silent_p.T488T|ISYNA1_uc002njf.1_Silent_p.T392T	NM_016368	NP_057452	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	542					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			ovary(1)|pancreas(1)	2						TGGCATCACCGGTGCAGCCAT	0.647		NA											4	142					0	0	0	0
ZNF208	7757	broad.mit.edu	37	19	22155761	22155761	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:22155761G>T	uc002nqp.2	-	5	1924	c.1775C>A	c.(1774-1776)CCC>CAC	p.P592H	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTTGTAGGGTTTCTCTCC	0.383		NA											47	99					4.33e-22	5.81e-22	1	0
ZNF98	148198	broad.mit.edu	37	19	22574982	22574982	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:22574982C>T	uc002nqt.2	-	4	1177	c.1055G>A	c.(1054-1056)TGT>TAT	p.C352Y		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	352	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ACATTCTTCACATTTGTAGAA	0.393		NA											14	38					0	0	0	0
ZNF99	7652	broad.mit.edu	37	19	22941189	22941189	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:22941189G>T	uc010xrh.1	-	5	1249	c.1249C>A	c.(1249-1251)CCT>ACT	p.P417T		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CATTTGCAAGGTTTCTCTTCC	0.353		NA											50	65					7.05e-20	9.31e-20	1	0
CCNE1	898	broad.mit.edu	37	19	30312979	30312979	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:30312979A>G	uc002nsn.2	+	9	965	c.782A>G	c.(781-783)GAC>GGC	p.D261G	CCNE1_uc002nso.2_Missense_Mutation_p.D246G|CCNE1_uc002nsp.2_Missense_Mutation_p.D8G	NM_001238	NP_001229	P24864	CCNE1_HUMAN	cyclin E1 isoform 1	261					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			lung(2)	2	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TATCTAAATGACTTACATGAA	0.473		NA											99	120					0	0	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631242	51631242	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:51631242G>T	uc002pvu.2	+	5	1119	c.1052G>T	c.(1051-1053)GGG>GTG	p.G351V	SIGLEC9_uc010yct.1_Missense_Mutation_p.G351V	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9 precursor	351	Helical; (Potential).				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			skin(1)	1		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGGGTGGTCGGGGGAGCTGGA	0.552		NA											83	233					1.47e-35	2.11e-35	1	0
ZNF845	91664	broad.mit.edu	37	19	53856114	53856114	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:53856114G>T	uc010ydv.1	+	4	2303	c.2186G>T	c.(2185-2187)AGT>ATT	p.S729I	ZNF845_uc010ydw.1_Missense_Mutation_p.S729I	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	zinc finger protein 845	729	C2H2-type 19.			Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGGCCTTCAGTCAGAAGTCA	0.418		NA											55	102					5.39e-20	7.14e-20	1	0
LAIR1	3903	broad.mit.edu	37	19	54868568	54868568	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:54868568C>T	uc002qfk.1	-	5	733	c.423G>A	c.(421-423)ACG>ACA	p.T141T	LAIR1_uc002qfl.1_Silent_p.T124T|LAIR1_uc002qfm.1_Silent_p.T140T|LAIR1_uc002qfn.1_Silent_p.T123T|LAIR1_uc010yex.1_Silent_p.T134T|LAIR1_uc002qfo.2_Silent_p.T123T	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	141	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		ACGGCCTCTGCGTGGGTCCTG	0.522		NA											14	19					0	0	0	0
LILRA2	11027	broad.mit.edu	37	19	55087544	55087544	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:55087544T>A	uc002qgg.3	+	6	1312	c.1223T>A	c.(1222-1224)CTC>CAC	p.L408H	LILRA2_uc010ern.2_Missense_Mutation_p.L408H|LILRA2_uc002qgf.2_Missense_Mutation_p.L408H|LILRA2_uc010yfe.1_Missense_Mutation_p.L408H|LILRA2_uc010yff.1_Missense_Mutation_p.L396H|LILRA2_uc010ero.2_Missense_Mutation_p.L396H|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	408	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)		CTGCTGTCTCTCCCCAGTGAC	0.622		NA											79	114					0	0	0	0
LILRA1	11024	broad.mit.edu	37	19	55106644	55106644	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:55106644C>A	uc002qgh.1	+	5	620	c.438C>A	c.(436-438)GTC>GTA	p.V146V	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.V146V	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	146	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)		TCCATTGTGTCTCACAGGTGG	0.567		NA											79	110					1.4e-30	1.96e-30	1	0
KIR3DL1	3811	broad.mit.edu	37	19	55341657	55341657	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:55341657C>A	uc002qhk.3	+	9	1325	c.1262C>A	c.(1261-1263)CCC>CAC	p.P421H	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR3DL1_uc010yfn.1_Missense_Mutation_p.P346H|KIR3DL1_uc010esf.2_Missense_Mutation_p.P326H|KIR3DL1_uc010yfo.1_Missense_Mutation_p.P363H|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_5'Flank|KIR2DS4_uc002qhm.1_5'Flank	NM_013289	NP_037421	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three	421	Cytoplasmic (Potential).				immune response|regulation of immune response	integral to plasma membrane	HLA-B specific inhibitory MHC class I receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1)	5				GBM - Glioblastoma multiforme(193;0.0192)		CCCAAGACACCCCCTACAGAT	0.512		NA											196	35					2.92e-67	4.38e-67	1	0
NLRP11	204801	broad.mit.edu	37	19	56300317	56300317	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:56300317G>C	uc010ygf.1	-	11	3422	c.2711C>G	c.(2710-2712)GCC>GGC	p.A904G	NLRP11_uc002qlz.2_Missense_Mutation_p.A751G|NLRP11_uc002qmb.2_Missense_Mutation_p.A805G|NLRP11_uc002qmc.2_RNA	NM_145007	NP_659444	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	904							ATP binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCGACAGCAGGCACTGGTTAA	0.458		NA											21	53					0	0	0	0
NLRP4	147945	broad.mit.edu	37	19	56390176	56390176	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:56390176T>A	uc002qmd.3	+	9	3135	c.2713T>A	c.(2713-2715)TTA>ATA	p.L905I	NLRP4_uc002qmf.2_Missense_Mutation_p.L830I|NLRP4_uc010etf.2_Missense_Mutation_p.L680I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	905							ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGAATGTGGGTTAACGAGCAC	0.532		NA											17	20					0	0	0	0
NLRP5	126206	broad.mit.edu	37	19	56539074	56539074	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:56539074C>A	uc002qmj.2	+	7	1475	c.1475C>A	c.(1474-1476)GCC>GAC	p.A492D	NLRP5_uc002qmi.2_Missense_Mutation_p.A473D	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	492	NACHT.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GAGAGCGTCGCCCCCTTCAAC	0.632		NA											26	32					1.43e-11	1.72e-11	1	0
ZIM3	114026	broad.mit.edu	37	19	57647166	57647166	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:57647166G>C	uc002qnz.1	-	5	925	c.539C>G	c.(538-540)TCA>TGA	p.S180*		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	180	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)|skin(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTGAAGGCGTGACTTTGAACT	0.398		NA											232	171					0	0	0	0
ZNF264	9422	broad.mit.edu	37	19	57723577	57723577	+	Missense_Mutation	SNP	A	A	C	rs139216855		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:57723577A>C	uc002qob.2	+	4	1525	c.1112A>C	c.(1111-1113)TAT>TCT	p.Y371S		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	371	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GAGAAGCCCTATGAGTGCAGT	0.517		NA											52	138					0	0	0	0
NTSR2	23620	broad.mit.edu	37	2	11802111	11802111	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:11802111G>A	uc002rbq.3	-	2	954	c.880C>T	c.(880-882)CGC>TGC	p.R294C		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	294	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TGGACGCTGCGCTGGAGGCTG	0.428		NA											82	123					0	0	0	0
DPYSL5	56896	broad.mit.edu	37	2	27169818	27169819	+	Silent	DNP	TC	TC	CA			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:27169818_27169819TC>CA	uc002rhu.3	+	13	1808_1809	c.1650_1651TC>CA	c.(1648-1653)GCTCGG>GCCAGG	p.550_551AR>AR	DPYSL5_uc002rhv.3_Silent_p.550_551AR>AR	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	550_551					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTTCAGCTCGGATCCTCGC	0.604		NA											5	36					0	0	0	0
GALNT14	79623	broad.mit.edu	37	2	31167748	31167748	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:31167748C>A	uc002rnr.2	-	8	1422	c.803G>T	c.(802-804)CGC>CTC	p.R268L	GALNT14_uc002rnq.2_Missense_Mutation_p.R248L|GALNT14_uc002rns.2_Missense_Mutation_p.R273L|GALNT14_uc010ymr.1_Missense_Mutation_p.R233L|GALNT14_uc010ezo.1_Missense_Mutation_p.R235L|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	268	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)					GGGGTCCAGGCGCCGAGCCTT	0.587		NA											51	80					4.96e-28	6.9e-28	1	0
FAM161A	84140	broad.mit.edu	37	2	62081004	62081004	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:62081004G>T	uc010ypo.1	-	1	275	c.173C>A	c.(172-174)GCT>GAT	p.A58D	FAM161A_uc002sbm.3_Missense_Mutation_p.A58D|FAM161A_uc002sbn.3_Translation_Start_Site|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Translation_Start_Site	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	58					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						CGATGCCCCAGCGGGCTGAGC	0.682		NA											22	34					7.32e-31	1.03e-30	1	0
CYP26B1	56603	broad.mit.edu	37	2	72361927	72361927	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:72361927T>A	uc002sih.1	-	4	824	c.824A>T	c.(823-825)AAG>ATG	p.K275M	CYP26B1_uc010yra.1_Missense_Mutation_p.K258M|CYP26B1_uc010yrb.1_Missense_Mutation_p.K200M	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily b,	275					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			skin(2)	2						CCCGTGCTCCTTGCTGCTCTC	0.622		NA											19	43					0	0	0	0
LOXL3	84695	broad.mit.edu	37	2	74763560	74763560	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:74763560C>A	uc002smp.1	-	6	1023	c.951G>T	c.(949-951)GAG>GAT	p.E317D	LOXL3_uc002smo.1_Translation_Start_Site|LOXL3_uc010ffm.1_Missense_Mutation_p.E317D|LOXL3_uc002smq.1_Missense_Mutation_p.E172D|LOXL3_uc010ffn.1_Missense_Mutation_p.E172D	NM_032603	NP_115992	P58215	LOXL3_HUMAN	lysyl oxidase-like 3 precursor	317	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity				0						CTACCCGGCCCTCTCCAGGGT	0.622		NA											33	41					1.08e-15	1.38e-15	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745800	77745800	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:77745800A>G	uc002snr.2	-	3	1610	c.1195T>C	c.(1195-1197)TTT>CTT	p.F399L	LRRTM4_uc002snq.2_Missense_Mutation_p.F399L|LRRTM4_uc002sns.2_Missense_Mutation_p.F399L|LRRTM4_uc002snt.2_Missense_Mutation_p.F400L	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	399	Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)		GGTGTTTCAAAGGTGGATTGG	0.493		NA											37	70					0	0	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530391	80530391	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:80530391C>A	uc002sok.1	-	2	824	c.554G>T	c.(553-555)CGC>CTC	p.R185L	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	185	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CTTGAGGCTGCGGCAGTCCTG	0.607		NA								HNSCC(69;0.2)			41	44					3.05e-18	3.97e-18	1	0
LRRTM1	347730	broad.mit.edu	37	2	80530685	80530685	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:80530685C>A	uc002sok.1	-	2	530	c.260G>T	c.(259-261)GGG>GTG	p.G87V	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	87	Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						CTGCATTAACCCCGTGAACTG	0.622		NA								HNSCC(69;0.2)			66	112					9.08e-34	1.29e-33	1	0
SLC35F5	80255	broad.mit.edu	37	2	114492205	114492205	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:114492205C>A	uc002tku.1	-	9	1302	c.878G>T	c.(877-879)GGA>GTA	p.G293V	SLC35F5_uc002tkt.2_RNA	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	293	DUF6.				transport	integral to membrane					0						AAATCTATCTCCACTGTTACT	0.303		NA											51	43					3.28e-27	4.55e-27	1	0
DPP10	57628	broad.mit.edu	37	2	116510867	116510867	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:116510867T>C	uc002tla.1	+	11	1525	c.1068T>C	c.(1066-1068)TGT>TGC	p.C356C	DPP10_uc002tlb.1_Silent_p.C306C|DPP10_uc002tlc.1_Silent_p.C352C|DPP10_uc002tle.2_Silent_p.C360C|DPP10_uc002tlf.1_Silent_p.C349C	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	356	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						CAGGTGCTTGTAGTAAAGTGA	0.368		NA											29	66					0	0	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192236	125192236	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:125192236G>T	uc002tno.2	+	5	1069	c.705G>T	c.(703-705)AAG>AAT	p.K235N	CNTNAP5_uc010flu.2_Missense_Mutation_p.K235N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	235	Laminin G-like 1.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		AACTCCAGAAGGGGAGGCTCG	0.532		NA											16	36					6.5e-13	8.05e-13	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125284872	125284872	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:125284872C>A	uc002tno.2	+	10	1849	c.1485C>A	c.(1483-1485)GAC>GAA	p.D495E	CNTNAP5_uc010flu.2_Missense_Mutation_p.D496E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	495	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGTGCCCCGACAATCTCACCG	0.448		NA											23	75					0.000229342	0.000246257	1	0
CYP27C1	339761	broad.mit.edu	37	2	127950815	127950815	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:127950815G>T	uc002tod.2	-	7	988	c.857C>A	c.(856-858)GCC>GAC	p.A286D		NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C,	286						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GAACTCCTTGGCCCGAGGGAA	0.537		NA											81	77					1.39e-53	2.07e-53	1	0
LCT	3938	broad.mit.edu	37	2	136564931	136564931	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:136564931C>T	uc002tuu.1	-	9	3951	c.3940G>A	c.(3940-3942)GTC>ATC	p.V1314I		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1314	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		GACCAGGCGACATACCCTCGA	0.527		NA											49	23					0	0	0	0
LRP1B	53353	broad.mit.edu	37	2	141777503	141777503	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:141777503T>C	uc002tvj.1	-	12	2930	c.1958A>G	c.(1957-1959)GAT>GGT	p.D653G	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	653	Extracellular (Potential).|LDL-receptor class B 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAACTGGATCCACCACAAT	0.333		NA								TSP Lung(27;0.18)			49	17					0	0	0	0
PSMD14	10213	broad.mit.edu	37	2	162247657	162247657	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:162247657A>G	uc002ubu.2	+	9	1080	c.613A>G	c.(613-615)ATT>GTT	p.I205V		NM_005805	NP_005796	O00487	PSDE_HUMAN	proteasome 26S subunit, non-ATPase 14	205					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity			breast(1)	1						CTCCATTACTATTAACTATCG	0.249		NA											3	2					0	0	0	0
IFIH1	64135	broad.mit.edu	37	2	163133239	163133239	+	Silent	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:163133239C>G	uc002uce.2	-	11	2484	c.2262G>C	c.(2260-2262)CTG>CTC	p.L754L		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	754	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1						CAGCTCCAATCAGATGGTGGG	0.338		NA											88	39					0	0	0	0
FIGN	55137	broad.mit.edu	37	2	164467857	164467857	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:164467857C>A	uc002uck.1	-	3	796	c.485G>T	c.(484-486)AGT>ATT	p.S162I		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	162						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4						ACTTGAATAACTAGGTTCTGT	0.517		NA											41	20					2.25e-16	2.89e-16	1	0
GRB14	2888	broad.mit.edu	37	2	165381587	165381587	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:165381587T>C	uc002ucl.2	-	5	1146	c.605A>G	c.(604-606)TAT>TGT	p.Y202C	GRB14_uc010zcv.1_Missense_Mutation_p.Y115C|GRB14_uc002ucm.2_RNA	NM_004490	NP_004481	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	202					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						TGGAAAAAAATACTGTCAAAA	0.254		NA											42	15					0	0	0	0
SCN1A	6323	broad.mit.edu	37	2	166854615	166854615	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:166854615C>A	uc010zcz.1	-	23	4394	c.4376G>T	c.(4375-4377)GGG>GTG	p.G1459V	SCN1A_uc002udo.3_Missense_Mutation_p.G1339V|SCN1A_uc010fpk.2_Missense_Mutation_p.G1311V	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1470	Helical; Name=S6 of repeat III; (By similarity).|III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAAGAAGGACCCAAAGATGAT	0.338		NA											43	13					4.16e-14	5.19e-14	1	0
TTN	7273	broad.mit.edu	37	2	179454011	179454011	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179454011C>A	uc010zfg.1	-	253	54961	c.54737G>T	c.(54736-54738)AGA>ATA	p.R18246I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R11941I|TTN_uc010zfi.1_Missense_Mutation_p.R11874I|TTN_uc010zfj.1_Missense_Mutation_p.R11749I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19173							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R11749T(1)|p.R18244T(1)		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)			CCTTGGTGATCTTGTTAAGTC	0.453		NA											93	226					1.42e-38	2.06e-38	1	0
TTN	7273	broad.mit.edu	37	2	179537203	179537203	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179537203C>A	uc010zfg.1	-	149	31182	c.30958G>T	c.(30958-30960)GAA>TAA	p.E10320*	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E6981*|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_RNA|TTN_uc010frf.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11247							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)			TTTGGTACTTCAGGCACTTTA	0.373		NA											115	370					1.19e-50	1.76e-50	1	0
TTN	7273	broad.mit.edu	37	2	179553841	179553841	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179553841G>C	uc010zfg.1	-	122	28526	c.28302C>G	c.(28300-28302)CCC>CCG	p.P9434P	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6095P|TTN_uc010fre.1_Silent_p.P545P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	10361							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)			CCTCTGGGACGGGTTTCTTAG	0.433		NA											90	69					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179583701	179583701	+	Splice_Site	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179583701C>G	uc010zfg.1	-	81	20719	c.20495_splice	c.e81-1	p.E6832_splice	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Splice_Site_p.E3493_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A								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)			GATGGTGGTTCTAGATATTGC	0.438		NA											23	17					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179590292	179590292	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179590292G>T	uc010zfg.1	-	68	17131	c.16907C>A	c.(16906-16908)GCC>GAC	p.A5636D	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2297D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6563							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)			AATAGGCTGGGCGCCTTCTAT	0.428		NA											68	53					3.31e-33	4.69e-33	1	0
TTN	7273	broad.mit.edu	37	2	179659844	179659844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:179659844G>T	uc010zfg.1	-	7	1274	c.1050C>A	c.(1048-1050)TAC>TAA	p.Y350*	TTN_uc010zfh.1_Nonsense_Mutation_p.Y350*|TTN_uc010zfi.1_Nonsense_Mutation_p.Y350*|TTN_uc010zfj.1_Nonsense_Mutation_p.Y350*|TTN_uc002unb.2_Nonsense_Mutation_p.Y350*|TTN_uc010frg.1_Nonsense_Mutation_p.Y24*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	350							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)			AGGAGGCCACGTAGCCCTCTT	0.557		NA											49	102					2.69e-26	3.72e-26	1	0
DNAH7	56171	broad.mit.edu	37	2	196723252	196723252	+	Silent	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:196723252A>T	uc002utj.3	-	43	8114	c.8013T>A	c.(8011-8013)GGT>GGA	p.G2671G		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2671	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						TTGGCAAGGCACCTGCCAGGT	0.458		NA											31	20					0	0	0	0
ABCA12	26154	broad.mit.edu	37	2	215917308	215917308	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:215917308G>A	uc002vew.2	-	5	630	c.410C>T	c.(409-411)GCC>GTC	p.A137V	ABCA12_uc010zjn.1_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	137					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAATACTGTGGCTGTAATCAA	0.428		NA											35	13					0	0	0	0
TRIP12	9320	broad.mit.edu	37	2	230652326	230652326	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:230652326T>C	uc002vpw.1	-	32	4774	c.4665A>G	c.(4663-4665)GCA>GCG	p.A1555A	TRIP12_uc002vpx.1_Silent_p.A1603A|TRIP12_uc002vpy.1_Silent_p.A1285A	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1555	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCCGATCAAATGCAGTTACAT	0.378		NA											53	20					0	0	0	0
EIF6	3692	broad.mit.edu	37	20	33867551	33867551	+	Splice_Site	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr20:33867551C>T	uc002xbv.1	-	5	763	c.547_splice	c.e5-1	p.A183_splice	EDEM2_uc010zuv.1_5'Flank|EIF6_uc002xbx.1_Splice_Site_p.A183_splice|EIF6_uc002xbz.1_Splice_Site_p.A164_splice|EIF6_uc002xby.1_Splice_Site	NM_181468	NP_852133	P56537	IF6_HUMAN	eukaryotic translation initiation factor 6						mature ribosome assembly	cytoplasm|nucleolus	protein binding|ribosome binding|translation initiation factor activity			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGTCCCCGCCTGCCAAGGGA	0.587		NA											36	50					0	0	0	0
C20orf135	140701	broad.mit.edu	37	20	62493607	62493607	+	Silent	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr20:62493607C>G	uc002ygx.1	+	1	1042	c.714C>G	c.(712-714)CCC>CCG	p.P238P	TPD52L2_uc002ygy.2_5'Flank|TPD52L2_uc002ygz.2_5'Flank|TPD52L2_uc002yha.2_5'Flank|TPD52L2_uc002yhb.2_5'Flank|TPD52L2_uc002yhc.2_5'Flank|TPD52L2_uc002yhd.2_5'Flank|TPD52L2_uc011abk.1_5'Flank|TPD52L2_uc011abl.1_5'Flank	NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	hypothetical protein LOC140701	238							hydrolase activity				0	all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ACTTCCCGCCCGCGCACCTGG	0.687		NA											10	19					0	0	0	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007617	32007617	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:32007617G>A	uc011adg.1	+	1	35	c.35G>A	c.(34-36)CGT>CAT	p.R12H		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	12						intermediate filament				central_nervous_system(1)	1						GGTGGTCTGCGTTATGGCTAT	0.522		NA											50	74					0	0	0	0
SYNJ1	8867	broad.mit.edu	37	21	34011284	34011284	+	Silent	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:34011284T>A	uc002yqh.2	-	31	3966	c.3966A>T	c.(3964-3966)CCA>CCT	p.P1322P	SYNJ1_uc011ads.1_Silent_p.P1236P|SYNJ1_uc002yqf.2_Silent_p.P1267P|SYNJ1_uc002yqg.2_Silent_p.P1236P|SYNJ1_uc002yqi.2_Silent_p.P1322P|SYNJ1_uc002yqe.3_5'UTR	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	synaptojanin 1 isoform a	1283	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			ovary(4)|skin(1)	5						GTGGTTGTGGTGGGGTTTCCA	0.507		NA											142	238					0	0	0	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086539	46086539	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:46086539T>C	uc002zfu.2	-	1	306	c.265A>G	c.(265-267)AGC>GGC	p.S89G	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	keratin associated protein 12-2	89	14.|23 X 5 AA approximate repeats.					keratin filament					0						GGCCTGCAGCTCACAGGCACA	0.632		NA											31	44					0	0	0	0
PCNT	5116	broad.mit.edu	37	21	47821491	47821491	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:47821491G>A	uc002zji.3	+	26	4925	c.4818G>A	c.(4816-4818)CAG>CAA	p.Q1606Q	PCNT_uc002zjj.2_Silent_p.Q1488Q	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1606	Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					AGAAACAGCAGATGAGTAGCT	0.453		NA											51	93					0	0	0	0
DIP2A	23181	broad.mit.edu	37	21	47910617	47910617	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr21:47910617G>A	uc002zjo.2	+	3	451	c.268G>A	c.(268-270)GAG>AAG	p.E90K	DIP2A_uc011afy.1_Intron|DIP2A_uc011afz.1_Missense_Mutation_p.E90K|DIP2A_uc002zjl.2_Missense_Mutation_p.E90K|DIP2A_uc002zjm.2_Missense_Mutation_p.E90K|DIP2A_uc010gql.2_Missense_Mutation_p.E90K|DIP2A_uc002zjn.2_Missense_Mutation_p.E90K	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	90					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTCGAGGGATGAGCGCTTCCG	0.592		NA											6	7					0	0	0	0
C22orf39	128977	broad.mit.edu	37	22	19431847	19431847	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:19431847G>C	uc002zpk.1	-	3	268	c.259C>G	c.(259-261)CCG>GCG	p.P87A	HIRA_uc010gro.1_Intron|HIRA_uc010grp.2_Intron|C22orf39_uc002zpi.2_Intron|C22orf39_uc002zpj.2_5'Flank	NM_173793	NP_776154	Q6P5X5	CV039_HUMAN	hypothetical protein LOC128977	87											0	Colorectal(54;0.0993)					CTCTGCCTCGGGGCCCACACC	0.622		NA											26	44					0	0	0	0
CDC45	8318	broad.mit.edu	37	22	19471512	19471512	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:19471512G>A	uc002zpr.2	+	5	546	c.470G>A	c.(469-471)CGC>CAC	p.R157H	CDC45_uc011agz.1_Missense_Mutation_p.R152H|CDC45_uc011aha.1_Missense_Mutation_p.R157H|CDC45_uc002zps.2_Missense_Mutation_p.R157H|CDC45_uc002zpt.2_Missense_Mutation_p.R111H	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	157					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						TCTGAGAAGCGCACACGGTTA	0.517		NA											5	113					0	0	0	0
MYO18B	84700	broad.mit.edu	37	22	26423401	26423401	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:26423401G>C	uc003abz.1	+	43	7711	c.7461G>C	c.(7459-7461)GGG>GGC	p.G2487G	MYO18B_uc003aca.1_Silent_p.G2368G|MYO18B_uc010guy.1_Silent_p.G2369G|MYO18B_uc010guz.1_Silent_p.G2367G|MYO18B_uc011aka.1_Silent_p.G1641G|MYO18B_uc011akb.1_Silent_p.G2000G|MYO18B_uc010gva.1_Silent_p.G470G|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2487						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						TTCTCTCGGGGATCAAGACCA	0.547		NA											20	34					0	0	0	0
MCM5	4174	broad.mit.edu	37	22	35804507	35804507	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:35804507G>T	uc003anu.3	+	6	797	c.703G>T	c.(703-705)GCA>TCA	p.A235S	MCM5_uc010gwr.2_Missense_Mutation_p.A44S|MCM5_uc003anv.3_Missense_Mutation_p.A192S|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	235					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1						GCTGCCTGATGCAGTCCCCCA	0.617		NA											42	48					9.85e-19	1.29e-18	1	0
SSTR3	6753	broad.mit.edu	37	22	37603211	37603211	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:37603211G>A	uc003ara.2	-	2	694	c.632C>T	c.(631-633)GCC>GTC	p.A211V	SSTR3_uc003arb.2_Missense_Mutation_p.A211V	NM_001051	NP_001042	P32745	SSR3_HUMAN	somatostatin receptor 3	211	Helical; Name=5; (Potential).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			lung(1)	1						GCCCAGTGCGGCCGTGTAGAT	0.692		NA											18	32					0	0	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119740	38119740	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:38119740C>G	uc003atr.2	+	7	1448	c.1177C>G	c.(1177-1179)CCC>GCC	p.P393A	TRIOBP_uc003atu.2_Missense_Mutation_p.P221A|TRIOBP_uc003atq.1_Missense_Mutation_p.P393A|TRIOBP_uc003ats.1_Missense_Mutation_p.P221A	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	393					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					AGCCTCCTCTCCCAACAGAAC	0.562		NA											96	102					0	0	0	0
EP300	2033	broad.mit.edu	37	22	41574850	41574850	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr22:41574850A>C	uc003azl.3	+	31	7530	c.7135A>C	c.(7135-7137)AAT>CAT	p.N2379H		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	2379					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GCTTGCTAGCAATCCAGGCAT	0.537		NA	T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				43	51					0	0	0	0
GRM7	2917	broad.mit.edu	37	3	7494344	7494344	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:7494344C>A	uc003bqm.2	+	6	1499	c.1225C>A	c.(1225-1227)CAG>AAG	p.Q409K	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.Q409K|GRM7_uc003bql.2_Missense_Mutation_p.Q409K|GRM7_uc003bqn.1_5'UTR|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	409	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	GGGTAAAGTCCAGTTCGTGAT	0.413		NA											27	18					3.73e-12	4.56e-12	1	0
GRM7	2917	broad.mit.edu	37	3	7494377	7494377	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:7494377C>G	uc003bqm.2	+	6	1532	c.1258C>G	c.(1258-1260)CAC>GAC	p.H420D	GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.H420D|GRM7_uc003bql.2_Missense_Mutation_p.H420D|GRM7_uc003bqn.1_Missense_Mutation_p.H3D|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7 isoform a	420	Extracellular (Potential).				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			ovary(4)|lung(3)	7					L-Glutamic Acid(DB00142)	TGCTATGGCTCACGCCCTTCA	0.488		NA											18	12					0	0	0	0
ATP2B2	491	broad.mit.edu	37	3	10428194	10428194	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:10428194C>A	uc003bvt.2	-	7	1349	c.910G>T	c.(910-912)GTG>TTG	p.V304L	ATP2B2_uc003bvv.2_Intron|ATP2B2_uc003bvw.2_Intron|ATP2B2_uc010hdo.2_Intron	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	304	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CCCTTCTTCACACCTGTGTGA	0.398		NA											50	23					1.78e-24	2.43e-24	1	0
XCR1	2829	broad.mit.edu	37	3	46062615	46062615	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:46062615G>A	uc003cpe.2	-	3	1049	c.825C>T	c.(823-825)CTC>CTT	p.L275L	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Silent_p.L275L	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	275	Helical; Name=7; (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGGAGAAGGCGAGGTTGCGGC	0.567		NA											23	7					0	0	0	0
LOC646498	646498	broad.mit.edu	37	3	49227304	49227304	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:49227304G>T	uc011bcj.1	-	1	124	c.118C>A	c.(118-120)CTA>ATA	p.L40I		NM_001080528	NP_001073997			hypothetical LOC646498												0				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.00221)|KIRC - Kidney renal clear cell carcinoma(197;0.00247)		CCTGTCTGTAGGGGAAAGATC	0.522		NA											118	35					1.45e-55	2.16e-55	1	0
ABHD14A	25864	broad.mit.edu	37	3	52011936	52011936	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:52011936T>C	uc003dco.2	+	2	229	c.119T>C	c.(118-120)CTG>CCG	p.L40P	ABHD14B_uc003dcn.2_Intron|ABHD14A_uc010hlz.2_Missense_Mutation_p.L40P|ACY1_uc011bea.1_5'UTR	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	40	Helical; Signal-anchor for type II membrane protein; (Potential).					cytoplasm|integral to membrane	hydrolase activity				0				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCTGGGCCTGAGTCTGCTG	0.612		NA											4	202					0	0	0	0
LMOD3	56203	broad.mit.edu	37	3	69168975	69168975	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:69168975T>C	uc003dns.2	-	2	740	c.531A>G	c.(529-531)GCA>GCG	p.A177A	LMOD3_uc003dnt.2_Silent_p.A177A	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	177	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			ovary(1)	1		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTTGTTCCTTTGCTTTGCCTT	0.318		NA											10	5					0	0	0	0
CADM2	253559	broad.mit.edu	37	3	85851229	85851229	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:85851229G>T	uc003dqj.2	+	2	720	c.94G>T	c.(94-96)GTA>TTA	p.V32L	CADM2_uc003dqk.2_Missense_Mutation_p.V41L|CADM2_uc003dql.2_Missense_Mutation_p.V34L	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	immunoglobulin superfamily, member 4D	32	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				ovary(1)|lung(1)|kidney(1)|skin(1)	4		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AACACAGAATGTAACCGTTGT	0.403		NA											53	10					1.47e-25	2.02e-25	1	0
PROS1	5627	broad.mit.edu	37	3	93615489	93615489	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:93615489A>T	uc003drb.3	-	9	1237	c.896T>A	c.(895-897)TTA>TAA	p.L299*	PROS1_uc010hoo.2_Nonsense_Mutation_p.L168*|PROS1_uc003dqz.3_Nonsense_Mutation_p.L168*	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	299	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CAAGTAAAGTAATTCATACTT	0.358		NA											79	242					0	0	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98507004	98507004	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:98507004C>G	uc003dsz.2	+	7	792	c.556C>G	c.(556-558)CTC>GTC	p.L186V	ST3GAL6_uc003dsy.2_Missense_Mutation_p.L100V|ST3GAL6_uc003dta.2_Missense_Mutation_p.L68V|ST3GAL6_uc003dtb.2_Missense_Mutation_p.L42V|ST3GAL6_uc003dtc.2_Missense_Mutation_p.L186V|ST3GAL6_uc010hpd.2_Missense_Mutation_p.L239V	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	alpha2,3-sialyltransferase VI	186	Lumenal (Potential).				amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			ovary(1)	1						GACAGTGATTCTCACTGCTTT	0.383		NA											50	124					0	0	0	0
IMPG2	50939	broad.mit.edu	37	3	100962535	100962535	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:100962535C>A	uc003duq.1	-	13	2843	c.2640G>T	c.(2638-2640)GTG>GTT	p.V880V	IMPG2_uc011bhe.1_Silent_p.V743V	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	880	Extracellular (Potential).				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						TGGGCCAAGCCACACTAACCA	0.458		NA											69	41					5.45e-27	7.55e-27	1	0
MYH15	22989	broad.mit.edu	37	3	108189618	108189618	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:108189618C>T	uc003dxa.1	-	14	1427	c.1370G>A	c.(1369-1371)AGG>AAG	p.R457K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	457	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						ATCCAGGGCCCTGTTGATCCG	0.458		NA											27	53					0	0	0	0
MORC1	27136	broad.mit.edu	37	3	108813861	108813861	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:108813861C>A	uc003dxl.2	-	7	565	c.478G>T	c.(478-480)GAT>TAT	p.D160Y	MORC1_uc011bhn.1_Missense_Mutation_p.D160Y	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	160					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8						TTCTGGGGATCATCTGTGACA	0.313		NA											24	89					7.93e-12	9.59e-12	1	0
GTF2E1	2960	broad.mit.edu	37	3	120489717	120489717	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:120489717G>T	uc003edz.3	+	3	705	c.591G>T	c.(589-591)GTG>GTT	p.V197V		NM_005513	NP_005504	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1,	197					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.159)		CAGAGGATGTGAACTTGGCCT	0.443		NA											157	467					3.12e-78	4.69e-78	1	0
HEG1	57493	broad.mit.edu	37	3	124738111	124738111	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:124738111C>A	uc003ehs.3	-	5	1651	c.1583G>T	c.(1582-1584)CGT>CTT	p.R528L	HEG1_uc011bke.1_Missense_Mutation_p.R528L	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	528	Extracellular (Potential).|Ser-rich.					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2						CTCACTCGAACGTTCTCCACG	0.453		NA											3	91					0.00909568	0.00950257	1	0
KIAA1257	57501	broad.mit.edu	37	3	128712028	128712028	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:128712028C>T	uc003elj.3	-	2	316	c.120G>A	c.(118-120)AAG>AAA	p.K40K	KIAA1257_uc003elg.1_Silent_p.K40K|KIAA1257_uc003eli.3_5'Flank	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	hypothetical protein LOC57501	40											0						GGGCCCTGGCCTTGGCCTTCA	0.612		NA											5	166					0	0	0	0
NPHP3	27031	broad.mit.edu	37	3	132408077	132408077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:132408077C>T	uc003epe.1	-	20	2801	c.2724G>A	c.(2722-2724)TGG>TGA	p.W908*	NPHP3_uc003epd.1_Nonsense_Mutation_p.W150*	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	908	TPR 2.				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						CAACAAACTGCCAATAACTCA	0.383		NA											76	166					0	0	0	0
PRR23C	389152	broad.mit.edu	37	3	138763109	138763109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:138763109C>T	uc011bmt.1	-	1	626	c.354G>A	c.(352-354)TGG>TGA	p.W118*		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	proline rich 23C	118										skin(1)	1						GGCCGGCAGACCAGTCGCCCT	0.637		NA											6	24					0	0	0	0
HLTF	6596	broad.mit.edu	37	3	148778569	148778569	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:148778569T>G	uc003ewq.1	-	11	1455	c.1237A>C	c.(1237-1239)AAA>CAA	p.K413Q	HLTF_uc003ewr.1_Missense_Mutation_p.K413Q|HLTF_uc003ews.1_Missense_Mutation_p.K413Q|HLTF_uc010hve.1_Missense_Mutation_p.K413Q	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	413					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATGTTACCTTTCATTTTCTGC	0.299		NA											38	69					0	0	0	0
HLTF	6596	broad.mit.edu	37	3	148792018	148792018	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:148792018C>A	uc003ewq.1	-	4	731	c.513G>T	c.(511-513)TTG>TTT	p.L171F	HLTF_uc003ewr.1_Missense_Mutation_p.L171F|HLTF_uc003ews.1_Missense_Mutation_p.L171F|HLTF_uc010hve.1_Missense_Mutation_p.L171F	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	171					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGCAGGACCCAATTTAAATC	0.338		NA											21	100					4.35e-09	5.08e-09	1	0
GPR149	344758	broad.mit.edu	37	3	154138918	154138918	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:154138918T>C	uc003faa.2	-	3	1633	c.1533A>G	c.(1531-1533)CCA>CCG	p.P511P		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	511	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTCTTCTTTCTGGCCCTTCAG	0.408		NA											79	163					0	0	0	0
IQCJ	654502	broad.mit.edu	37	3	158983064	158983064	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:158983064G>A	uc003fcp.1	+	5	457	c.352G>A	c.(352-354)GGG>AGG	p.G118R	SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Missense_Mutation_p.G91R	NM_001042705	NP_001036170	Q1A5X6	IQCJ_HUMAN	IQ motif containing J isoform CaMBPv1	118											0			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			GCAGTCACCTGGGGACAAGTT	0.493		NA											215	150					0	0	0	0
SI	6476	broad.mit.edu	37	3	164737396	164737396	+	Silent	SNP	G	G	T	rs150297357	byFrequency	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:164737396G>T	uc003fei.2	-	28	3479	c.3417C>A	c.(3415-3417)CCC>CCA	p.P1139P		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1139	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTACACCAGGGGGTTGGTCTC	0.443		NA								HNSCC(35;0.089)			82	76					1.02e-41	1.49e-41	1	0
SI	6476	broad.mit.edu	37	3	164739083	164739083	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:164739083T>C	uc003fei.2	-	27	3250	c.3188A>G	c.(3187-3189)TAT>TGT	p.Y1063C		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1063	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCCACATCATAAAGTCTGTC	0.353		NA								HNSCC(35;0.089)			142	330					0	0	0	0
EIF5A2	56648	broad.mit.edu	37	3	170624851	170624851	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:170624851C>T	uc003fhd.2	-	3	327	c.197G>A	c.(196-198)GGC>GAC	p.G66D		NM_020390	NP_065123	Q9GZV4	IF5A2_HUMAN	eIF-5A2 protein	66					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity				0	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			ATATTTTTTGCCCGTGAAAAT	0.343		NA											4	132					0	0	0	0
MFN1	55669	broad.mit.edu	37	3	179095131	179095131	+	Splice_Site	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:179095131G>A	uc003fjs.2	+	12	1351	c.1225_splice	c.e12-1	p.V409_splice	MFN1_uc010hxb.2_Splice_Site|MFN1_uc003fjt.2_Splice_Site_p.V437_splice|MFN1_uc010hxc.2_Splice_Site_p.V262_splice	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1						mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATATTTTCAGGTTTCATGTG	0.239		NA											44	101					0	0	0	0
CHRD	8646	broad.mit.edu	37	3	184099067	184099067	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:184099067C>G	uc003fov.2	+	3	543	c.297C>G	c.(295-297)TGC>TGG	p.C99W	CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Missense_Mutation_p.C99W|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	99	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGTCAGCTGCAAGAACATCA	0.647		NA											21	43					0	0	0	0
DNAJB11	51726	broad.mit.edu	37	3	186299209	186299209	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:186299209G>T	uc003fqi.2	+	5	726	c.506G>T	c.(505-507)TGC>TTC	p.C169F		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	169				C->S: Drastic loss of interaction with denatured substrates.	protein folding	endoplasmic reticulum lumen	heat shock protein binding			ovary(1)|lung(1)	2	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AAACGGAAGTGCAATTGTCGG	0.517		NA											55	145					5.82e-19	7.62e-19	1	0
GUF1	60558	broad.mit.edu	37	4	44688653	44688653	+	Silent	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:44688653A>G	uc003gww.3	+	8	1068	c.861A>G	c.(859-861)GTA>GTG	p.V287V	GUF1_uc010ifz.1_RNA	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	287					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						ATAAAATTGTATCTGCACATA	0.368		NA											89	38					0	0	0	0
KIAA1211	57482	broad.mit.edu	37	4	57173804	57173804	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:57173804T>A	uc003hbk.2	+	5	615	c.224T>A	c.(223-225)CTG>CAG	p.L75Q	KIAA1211_uc010iha.2_Missense_Mutation_p.L68Q|KIAA1211_uc011bzz.1_5'Flank|KIAA1211_uc003hbl.2_5'Flank|KIAA1211_uc003hbm.1_5'Flank	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	hypothetical protein LOC57482	75										ovary(1)|skin(1)	2	Glioma(25;0.08)|all_neural(26;0.101)					GATCTGTTCCTGACCAGTCCC	0.493		NA											36	38					0	0	0	0
TECRL	253017	broad.mit.edu	37	4	65175550	65175550	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:65175550C>G	uc003hcv.2	-	6	760	c.651G>C	c.(649-651)TTG>TTC	p.L217F	TECRL_uc003hcw.2_Missense_Mutation_p.L217F	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	steroid 5 alpha-reductase 2-like 2	217	Helical; (Potential).				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors				0						TCACCATTATCAAATTTTTCA	0.338		NA											85	139					0	0	0	0
UGT2B10	7365	broad.mit.edu	37	4	69682013	69682013	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:69682013G>T	uc003hee.2	+	1	301	c.276G>T	c.(274-276)TTG>TTT	p.L92F	UGT2B10_uc011cam.1_Missense_Mutation_p.L92F	NM_001075	NP_001066	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2B10 isoform 1	92					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5						TCATGCAATTGGTTAAGAGAT	0.313		NA											41	60					2.27e-22	3.05e-22	1	0
CSN1S1	1446	broad.mit.edu	37	4	70804897	70804897	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:70804897A>G	uc003hep.1	+	10	296	c.247A>G	c.(247-249)ATG>GTG	p.M83V	CSN1S1_uc003heq.1_Missense_Mutation_p.M82V|CSN1S1_uc003her.1_Missense_Mutation_p.M83V	NM_001890	NP_001881	P47710	CASA1_HUMAN	casein alpha s1 isoform 1	83						extracellular region	protein binding|transporter activity				0						CTTTTAGAAGATGGAATCCAG	0.328		NA											50	73					0	0	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73164099	73164099	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:73164099C>G	uc003hgk.1	-	18	2522	c.2485G>C	c.(2485-2487)GAC>CAC	p.D829H	ADAMTS3_uc003hgl.2_Missense_Mutation_p.D170H	NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	829	Spacer.				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)			GGTACAGAGTCTTCATGGATG	0.403		NA											84	121					0	0	0	0
ALB	213	broad.mit.edu	37	4	74285323	74285324	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:74285323_74285324GG>TT	uc003hgs.3	+	13	1825_1826	c.1752_1753GG>TT	c.(1750-1755)AAGGCT>AATTCT	p.584_585KA>NS	ALB_uc003hgw.3_Missense_Mutation_p.392_393KA>NS|ALB_uc011cbe.1_Missense_Mutation_p.263_264KA>NS|ALB_uc003hgt.3_Missense_Mutation_p.584_585KA>NS|ALB_uc010iii.2_Missense_Mutation_p.469_470KA>NS|ALB_uc003hgu.3_Missense_Mutation_p.434_435KA>NS|ALB_uc003hgv.3_Missense_Mutation_p.263_264KA>NS|ALB_uc011cbf.1_Missense_Mutation_p.474_475KA>NS|ALB_uc010iij.2_RNA|ALB_uc003hgx.3_Missense_Mutation_p.263_264KA>NS	NM_000477	NP_000468	P02768	ALBU_HUMAN	albumin preproprotein	584_585	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			ovary(3)|skin(3)	6	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin(DB00096)|Serum albumin iodonated(DB00064)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGTGCTGCAAGGCTGACGATAA	0.441		NA											63	133					0	0	0	0
NAA11	84779	broad.mit.edu	37	4	80246866	80246866	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:80246866C>T	uc003hlt.3	-	1	306	c.166G>A	c.(166-168)GTT>ATT	p.V56I		NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	alpha-N-acetyltransferase 1B	56	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2						TTGGCCAGAACATAGCCCACA	0.532		NA											65	134					0	0	0	0
ANTXR2	118429	broad.mit.edu	37	4	80898813	80898813	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:80898813C>T	uc003hlz.3	-	16	2153	c.1390G>A	c.(1390-1392)GAC>AAC	p.D464N	ANTXR2_uc003hly.3_Missense_Mutation_p.D464N|ANTXR2_uc003hlx.1_RNA|ANTXR2_uc010ijn.2_Missense_Mutation_p.D361N	NM_001145794	NP_001139266	P58335	ANTR2_HUMAN	anthrax toxin receptor 2 isoform 2	464	Cytoplasmic (Potential).					endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			ovary(1)	1						GAAACCCGGTCATACTGCCGC	0.448		NA							Juvenile_Hyaline_Fibromatosis				6	8					0	0	0	0
ENOPH1	58478	broad.mit.edu	37	4	83375980	83375980	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:83375980G>A	uc003hmv.2	+	4	752	c.495G>A	c.(493-495)GGG>GGA	p.G165G	ENOPH1_uc003hmw.2_Silent_p.G77G|ENOPH1_uc003hmx.2_Silent_p.G19G	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	165					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity				0						TGTTATTCGGGCATTCTACGG	0.418		NA											5	214					0	0	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170272	90170272	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:90170272G>T	uc003hsm.1	-	2	1509	c.990C>A	c.(988-990)AGC>AGA	p.S330R		NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	G protein-regulated inducer of neurite outgrowth	330										ovary(3)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AGACGGATCTGCTCTCGACAC	0.537		NA											53	100					1.44e-25	1.98e-25	1	0
DKK2	27123	broad.mit.edu	37	4	107845325	107845325	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:107845325C>A	uc003hyi.2	-	4	1271	c.566G>T	c.(565-567)TGC>TTC	p.C189F	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	189	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCCTTCAATGCAGTCTGATGA	0.453		NA											51	76					4e-15	5.06e-15	1	0
DKK2	27123	broad.mit.edu	37	4	107845853	107845853	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:107845853G>A	uc003hyi.2	-	3	1083	c.378C>T	c.(376-378)ATC>ATT	p.I126I	DKK2_uc010ilw.1_RNA|DKK2_uc003hyj.1_Silent_p.I126I	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	dickkopf homolog 2 precursor	126	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				ovary(3)|lung(1)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CTGGGATACAGATGCCTGGAG	0.403		NA											81	102					0	0	0	0
CASP6	839	broad.mit.edu	37	4	110610524	110610524	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:110610524G>C	uc003hzn.1	-	7	922	c.844C>G	c.(844-846)CTA>GTA	p.L282V	CASP6_uc003hzo.1_Missense_Mutation_p.L193V	NM_001226	NP_001217	P55212	CASP6_HUMAN	caspase 6 isoform alpha preproprotein	282					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			ovary(1)|breast(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		TTTTTAGTTAGCATTGAGGCA	0.368		NA											85	114					0	0	0	0
ENPEP	2028	broad.mit.edu	37	4	111431455	111431455	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:111431455G>T	uc003iab.3	+	6	1591	c.1249G>T	c.(1249-1251)GGA>TGA	p.G417*		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	417	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCTAAATGAAGGATTTGCTTC	0.373		NA											54	80					1.14e-29	1.58e-29	1	0
ANK2	287	broad.mit.edu	37	4	114277866	114277866	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:114277866A>T	uc003ibe.3	+	38	8192	c.8092A>T	c.(8092-8094)AGC>TGC	p.S2698C	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Translation_Start_Site|ANK2_uc011cgb.1_Missense_Mutation_p.S2713C	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	2665					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTTCCATCAAGCATGGACTC	0.443		NA											60	91					0	0	0	0
C4orf3	401152	broad.mit.edu	37	4	120221511	120221511	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:120221511G>C	uc003icv.3	-	1	458	c.180C>G	c.(178-180)CTC>CTG	p.L60L		NM_001001701	NP_001001701	Q8WVX3	CD003_HUMAN	hypothetical protein LOC401152	60	Helical; (Potential).					integral to membrane					0						AATACACAAAGAGAAACACCA	0.328		NA											75	64					0	0	0	0
PCDH10	57575	broad.mit.edu	37	4	134076163	134076163	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:134076163C>A	uc003iha.2	+	3	3608	c.2782C>A	c.(2782-2784)CGT>AGT	p.R928S		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	928	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCCACCAACCGTGCCCAGTC	0.423		NA											28	45					5.46e-16	6.98e-16	1	0
DCHS2	54798	broad.mit.edu	37	4	155241774	155241774	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:155241774C>A	uc003inw.2	-	14	3412	c.3412G>T	c.(3412-3414)GCT>TCT	p.A1138S		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	1138	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACATTCACAGCCTGATCAGAT	0.458		NA											100	139					9.45e-43	1.38e-42	1	0
NPY5R	4889	broad.mit.edu	37	4	164272139	164272139	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:164272139A>G	uc003iqn.2	+	4	896	c.714A>G	c.(712-714)ATA>ATG	p.I238M		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	238	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				GCAGAAGTATAAGCTGTGGAT	0.368		NA											58	90					0	0	0	0
GALNTL6	442117	broad.mit.edu	37	4	172735864	172735864	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:172735864C>G	uc003isv.2	+	2	869	c.133C>G	c.(133-135)CAG>GAG	p.Q45E		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	45	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						GCCCGGGGAGCAGCAGGTAAG	0.547		NA											17	48					0	0	0	0
GALNTL6	442117	broad.mit.edu	37	4	173150916	173150916	+	Splice_Site	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr4:173150916G>T	uc003isv.2	+	3	983	c.247_splice	c.e3+1	p.G83_splice		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6							Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						ATGCGCTCAGGTATGAAGCTC	0.448		NA											16	17					4.75e-09	5.53e-09	1	0
DNAH5	1767	broad.mit.edu	37	5	13735961	13735961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:13735961G>A	uc003jfd.2	-	67	11578	c.11536C>T	c.(11536-11538)CAG>TAG	p.Q3846*	DNAH5_uc003jfc.2_Nonsense_Mutation_p.Q14*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3846					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					CCCAGAAACTGGCGAAGCGAA	0.468		NA							Kartagener_syndrome				65	173					0	0	0	0
CDH10	1008	broad.mit.edu	37	5	24537586	24537586	+	Silent	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:24537586C>T	uc003jgr.1	-	3	761	c.429G>A	c.(427-429)GAG>GAA	p.E143E	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	143	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CAAACTCTGACTCTGGCTCTA	0.418		NA								HNSCC(23;0.051)			94	123					0	0	0	0
CDH9	1007	broad.mit.edu	37	5	26885967	26885967	+	Silent	SNP	T	T	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:26885967T>C	uc003jgs.1	-	11	1807	c.1638A>G	c.(1636-1638)ACA>ACG	p.T546T	CDH9_uc011cnv.1_Silent_p.T139T	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	546	Extracellular (Potential).|Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						TGATTCCTGCTGTATTATCTG	0.308		NA											37	78					0	0	0	0
FYB	2533	broad.mit.edu	37	5	39153579	39153579	+	Silent	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:39153579G>C	uc003jls.2	-	2	1330	c.1263C>G	c.(1261-1263)CCC>CCG	p.P421P	FYB_uc003jlt.2_Silent_p.P421P|FYB_uc003jlu.2_Silent_p.P421P|FYB_uc011cpl.1_Silent_p.P431P	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	421	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			TAATGTTTCTGGGAGGTAGGC	0.488		NA											115	184					0	0	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41048516	41048516	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:41048516C>G	uc003jmj.3	-	16	2084	c.1594G>C	c.(1594-1596)GGG>CGG	p.G532R	HEATR7B2_uc003jmi.3_Missense_Mutation_p.G87R	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	532	HEAT 6.						binding			ovary(6)|central_nervous_system(2)	8						TTCAAAAGCCCTATTGCACCA	0.458		NA											45	63					0	0	0	0
C6	729	broad.mit.edu	37	5	41201815	41201815	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:41201815G>C	uc003jmk.2	-	3	355	c.145C>G	c.(145-147)CAA>GAA	p.Q49E	C6_uc003jml.1_Missense_Mutation_p.Q49E	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	49	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTACTATTTGTCTGTAACCA	0.363		NA											51	79					0	0	0	0
HCN1	348980	broad.mit.edu	37	5	45396681	45396681	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:45396681G>T	uc003jok.2	-	4	1168	c.1143C>A	c.(1141-1143)GTC>GTA	p.V381V		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	381	Helical; Name=Segment S6; (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						AGGTGGCCCCGACGATCATGC	0.507		NA											43	63					1.32e-16	1.7e-16	1	0
RAB3C	115827	broad.mit.edu	37	5	58147124	58147124	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:58147124G>A	uc003jrp.2	+	5	727	c.630G>A	c.(628-630)CAG>CAA	p.Q210Q		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	210					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)|central_nervous_system(1)	2		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CTGCAAAGCAGAACACGAGAC	0.532		NA											90	24					0	0	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209242	140209242	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:140209242G>T	uc003lho.2	+	1	1593	c.1566G>T	c.(1564-1566)CCG>CCT	p.P522P	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.P522P|PCDHA6_uc011dab.1_Silent_p.P522P	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	522	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGCTGGACCACG	0.682		NA											139	26					9.63e-85	1.45e-84	1	0
PCDHA13	56136	broad.mit.edu	37	5	140262387	140262387	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:140262387C>G	uc003lif.2	+	1	534	c.534C>G	c.(532-534)TTC>TTG	p.F178L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.F178L|PCDHA13_uc003lid.2_Missense_Mutation_p.F178L	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	178	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGATTATTTCACTTTGGACG	0.433		NA											118	21					0	0	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531709	140531709	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:140531709C>A	uc003lir.2	+	1	1871	c.1871C>A	c.(1870-1872)ACC>AAC	p.T624N	PCDHB6_uc011dah.1_Missense_Mutation_p.T488N	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	624	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGTGCGCACCGCCAGGCTG	0.687		NA											55	8					5.99e-33	8.45e-33	1	0
GABRG2	2566	broad.mit.edu	37	5	161524815	161524815	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr5:161524815A>T	uc003lyz.3	+	4	857	c.499A>T	c.(499-501)AAC>TAC	p.N167Y	GABRG2_uc010jjc.2_Missense_Mutation_p.N167Y|GABRG2_uc003lyy.3_Missense_Mutation_p.N167Y|GABRG2_uc011dej.1_Missense_Mutation_p.N72Y	NM_000816	NP_000807	P18507	GBRG2_HUMAN	gamma-aminobutyric acid A receptor, gamma 2	167	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(4)|skin(1)	5	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CACCACCCCCAACAGGATGCT	0.423		NA											136	17					0	0	0	0
ATXN1	6310	broad.mit.edu	37	6	16327496	16327496	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:16327496C>T	uc003nbt.2	-	8	2017	c.1046G>A	c.(1045-1047)GGC>GAC	p.G349D	ATXN1_uc010jpi.2_Missense_Mutation_p.G349D|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	349					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AACCGACTTGCCGCCTGCCTT	0.677		NA											4	146					0	0	0	0
OR14J1	442191	broad.mit.edu	37	6	29274690	29274690	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:29274690C>A	uc011dln.1	+	1	224	c.224C>A	c.(223-225)ACA>AAA	p.T75K		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	75	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ATCTCTGTCACAGTCCCCCAG	0.453		NA											277	73					5.25e-114	7.98e-114	1	0
TREML2	79865	broad.mit.edu	37	6	41162312	41162312	+	Silent	SNP	G	G	A	rs141822677	byFrequency	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:41162312G>A	uc010jxm.1	-	3	815	c.636C>T	c.(634-636)ACC>ACT	p.T212T		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid	212	Extracellular (Potential).				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGGAGACGCGGTCACTGTCT	0.627		NA											24	33					0	0	0	0
RCAN2	10231	broad.mit.edu	37	6	46191030	46191030	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:46191030A>G	uc003oyb.1	-	4	757	c.442T>C	c.(442-444)TAT>CAT	p.Y148H	RCAN2_uc003oyc.1_Missense_Mutation_p.Y194H|RCAN2_uc003oyd.1_Missense_Mutation_p.Y194H	NM_005822	NP_005813	Q14206	RCAN2_HUMAN	Down syndrome critical region gene 1-like 1	148					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding				0						TGGAGCTCATACTTCTCTCCT	0.502		NA											84	113					0	0	0	0
GPR116	221395	broad.mit.edu	37	6	46856179	46856179	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:46856179G>T	uc003oyo.3	-	4	510	c.221C>A	c.(220-222)GCA>GAA	p.A74E	GPR116_uc003oyp.3_Missense_Mutation_p.A74E|GPR116_uc003oyq.3_Missense_Mutation_p.A74E|GPR116_uc003oyr.2_Missense_Mutation_p.A74E	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	74	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)			CAGGAAGGATGCATTTTCAAA	0.398		NA											53	86					1.08e-33	1.54e-33	1	0
TFAP2D	83741	broad.mit.edu	37	6	50740375	50740375	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:50740375T>A	uc003paf.2	+	8	1669	c.1157T>A	c.(1156-1158)TTT>TAT	p.F386Y	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	386	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					ACTCATGGCTTTGGGACTCCG	0.403		NA											43	53					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51897833	51897833	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:51897833A>G	uc003pah.1	-	29	3635	c.3359T>C	c.(3358-3360)ATA>ACA	p.I1120T	PKHD1_uc003pai.2_Missense_Mutation_p.I1120T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1120	Extracellular (Potential).|IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					TTTACCTGCTATATTGCTTAT	0.363		NA											52	76					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51947243	51947243	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:51947243G>A	uc003pah.1	-	4	504	c.228C>T	c.(226-228)CCC>CCT	p.P76P	PKHD1_uc003pai.2_Silent_p.P76P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	76	Extracellular (Potential).|IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					AGACGTCACAGGGAACACTCC	0.502		NA											94	139					0	0	0	0
ZNF451	26036	broad.mit.edu	37	6	57017082	57017082	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:57017082G>T	uc003pdm.1	+	12	3040	c.2816G>T	c.(2815-2817)GGA>GTA	p.G939V	ZNF451_uc003pdl.2_Missense_Mutation_p.G939V|ZNF451_uc003pdn.1_Missense_Mutation_p.G891V|uc003pdq.1_Intron	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AACAGGATTGGATGCTTCTTC	0.353		NA											58	99					2.76e-25	3.78e-25	1	0
PRIM2	5558	broad.mit.edu	37	6	57472415	57472415	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:57472415A>T	uc003pdx.2	+	13	1291	c.1204A>T	c.(1204-1206)AAG>TAG	p.K402*		NM_000947	NP_000938	P49643	PRI2_HUMAN	DNA primase polypeptide 2	402					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		GCAGTCATACAAGATCTCTCC	0.433		NA											8	75					0	0	0	0
FHL5	9457	broad.mit.edu	37	6	97052714	97052714	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:97052714C>G	uc003pos.1	+	4	653	c.248C>G	c.(247-249)GCC>GGC	p.A83G	FHL5_uc003pot.1_Missense_Mutation_p.A83G	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	activator of cAMP-responsive element modulator	83	LIM zinc-binding 1.					nucleus	zinc ion binding			ovary(2)	2		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCTTTTGCTGCCAAGGATGAG	0.507		NA											63	40					0	0	0	0
FRK	2444	broad.mit.edu	37	6	116381174	116381174	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:116381174G>A	uc003pwi.1	-	1	748	c.301C>T	c.(301-303)CCT>TCT	p.P101S		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	101	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TAGTTAGAAGGAATATAGCCT	0.468		NA											124	54					0	0	0	0
ENPP3	5169	broad.mit.edu	37	6	132004203	132004203	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:132004203G>T	uc003qcu.3	+	13	1368	c.1021G>T	c.(1021-1023)GCC>TCC	p.A341S	ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_RNA|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.A341S	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	341	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGTAATTAAAGCCTTACAGGT	0.378		NA											69	32					2.05e-36	2.95e-36	1	0
MAP3K5	4217	broad.mit.edu	37	6	137015389	137015389	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:137015389C>T	uc003qhc.2	-	7	1503	c.1142G>A	c.(1141-1143)AGC>AAC	p.S381N	MAP3K5_uc011edk.1_Missense_Mutation_p.S226N|MAP3K5_uc010kgw.1_Missense_Mutation_p.S381N	NM_005923	NP_005914	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase	381					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			ovary(2)|skin(2)|lung(1)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGTCCTTCGCTTTGCACCAT	0.388		NA											56	253					0	0	0	0
KIAA1244	57221	broad.mit.edu	37	6	138550985	138550985	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:138550985C>A	uc003qhu.2	+	5	416	c.416C>A	c.(415-417)GCG>GAG	p.A139E		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	brefeldin A-inhibited guanine	139					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)|skin(1)	2	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGAAGATCGCGGAGGTGAGT	0.483		NA											237	40					2.7e-108	4.1e-108	1	0
LATS1	9113	broad.mit.edu	37	6	149997417	149997417	+	Silent	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:149997417T>A	uc003qmu.1	-	7	3410	c.2862A>T	c.(2860-2862)ACA>ACT	p.T954T	LATS1_uc010kif.1_Silent_p.T849T|LATS1_uc003qmv.1_Silent_p.T954T	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	954	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTTCTAATGGTGTTTGTGCCA	0.353		NA											36	51					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152464762	152464762	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:152464762C>T	uc010kiw.2	-	138	25717	c.25115G>A	c.(25114-25116)GGC>GAC	p.G8372D	SYNE1_uc010kiv.2_Missense_Mutation_p.G2896D|SYNE1_uc003qos.3_Missense_Mutation_p.G2896D|SYNE1_uc003qot.3_Missense_Mutation_p.G8324D|SYNE1_uc003qou.3_Missense_Mutation_p.G8372D|SYNE1_uc003qop.3_Missense_Mutation_p.G557D|SYNE1_uc011eez.1_Missense_Mutation_p.G574D|SYNE1_uc003qoq.3_Missense_Mutation_p.G574D|SYNE1_uc003qor.3_Missense_Mutation_p.G1295D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8372	Potential.|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)		ACTTACGTAGCCTTTGTAGCT	0.507		NA								HNSCC(10;0.0054)			93	159					0	0	0	0
MYCT1	80177	broad.mit.edu	37	6	153043007	153043007	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:153043007C>G	uc003qpd.3	+	2	335	c.327C>G	c.(325-327)AGC>AGG	p.S109R	MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Missense_Mutation_p.S109R	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	109	Bipartite nuclear localization signal (Potential).					nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		GGAGTTCAAGCAGGAGATCTA	0.517		NA											84	103					0	0	0	0
FRMD1	79981	broad.mit.edu	37	6	168464322	168464322	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr6:168464322G>T	uc003qwo.3	-	6	828	c.763C>A	c.(763-765)CGG>AGG	p.R255R	FRMD1_uc003qwm.3_Silent_p.R26R|FRMD1_uc011egs.1_Silent_p.R26R|FRMD1_uc011egt.1_Silent_p.R167R|FRMD1_uc003qwn.3_Silent_p.R187R	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	FERM domain containing 1 isoform 1	255	FERM.					cytoskeleton	binding			ovary(1)	1		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TCCTCCAGCCGGCAGGCCTCC	0.667		NA											27	56					2.49e-11	2.99e-11	1	0
INTS1	26173	broad.mit.edu	37	7	1539130	1539130	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:1539130C>T	uc003skn.2	-	6	924	c.823G>A	c.(823-825)GTT>ATT	p.V275I	INTS1_uc003skq.2_Missense_Mutation_p.V275I	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	275					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCGCCCGCAACGCGGCCCGCC	0.682		NA											6	23					0	0	0	0
MACC1	346389	broad.mit.edu	37	7	20198179	20198179	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:20198179A>G	uc003sus.3	-	5	2114	c.1805T>C	c.(1804-1806)CTC>CCC	p.L602P	MACC1_uc010kug.2_Missense_Mutation_p.L602P	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	putative binding protein 7a5	602	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			ovary(2)|skin(1)	3						CTTACCTCTGAGGACTCCTAC	0.393		NA											453	52					0	0	0	0
KLHL7	55975	broad.mit.edu	37	7	23163426	23163426	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:23163426C>G	uc003svs.3	+	2	444	c.151C>G	c.(151-153)CAG>GAG	p.Q51E	KLHL7_uc003svr.3_Missense_Mutation_p.Q29E|KLHL7_uc011jys.1_Intron|KLHL7_uc011jyt.1_Intron|KLHL7_uc003svt.2_Missense_Mutation_p.Q3E|KLHL7_uc003svp.2_Missense_Mutation_p.Q29E|KLHL7_uc003svq.2_Missense_Mutation_p.Q51E|KLHL7_uc011jyu.1_Missense_Mutation_p.Q29E	NM_001031710	NP_001026880	Q8IXQ5	KLHL7_HUMAN	kelch-like 7 isoform 1	51	BTB.					Golgi apparatus|nucleolus|plasma membrane					0						CCTCATGGTCCAGGAAAGAAA	0.363		NA											105	12					0	0	0	0
ELMO1	9844	broad.mit.edu	37	7	37355565	37355565	+	Splice_Site	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:37355565C>T	uc003tfk.1	-	3	386	c.79_splice	c.e3-1	p.K27_splice	ELMO1_uc010kxg.1_Splice_Site_p.K27_splice	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1						actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GTGGTTTTTTCTGCAAAATAA	0.284		NA											353	54					0	0	0	0
EPDR1	54749	broad.mit.edu	37	7	37960496	37960496	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:37960496C>A	uc003tfp.2	+	1	334	c.315C>A	c.(313-315)GCC>GCA	p.A105A	EPDR1_uc003tfq.2_Silent_p.A105A|EPDR1_uc010kxh.2_5'Flank	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	Error:Variant_position_missing_in_Q9UM22_after_alignment					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						GCCTCAGCGCCCCCTTGGGCT	0.721		NA											40	5					3.86e-21	5.15e-21	1	0
CCDC132	55610	broad.mit.edu	37	7	92902042	92902042	+	Silent	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:92902042A>G	uc003umo.2	+	11	926	c.798A>G	c.(796-798)ACA>ACG	p.T266T	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Silent_p.T236T|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Silent_p.T266T	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	266											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGGAAAAACACAGGTTTGTT	0.333		NA											24	53					0	0	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94740679	94740679	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:94740679C>A	uc003unp.2	+	3	1786	c.1504C>A	c.(1504-1506)CTT>ATT	p.L502I	PPP1R9A_uc010lfj.2_Missense_Mutation_p.L502I|PPP1R9A_uc011kif.1_Missense_Mutation_p.L502I|PPP1R9A_uc003unq.2_Missense_Mutation_p.L502I|PPP1R9A_uc011kig.1_Missense_Mutation_p.L502I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	502	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAGCTGGAACTTTTCCCAGT	0.388		NA								HNSCC(28;0.073)			26	51					7.44e-23	1e-22	1	0
LAMB4	22798	broad.mit.edu	37	7	107669526	107669526	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:107669526A>G	uc010ljo.1	-	33	5192	c.5108T>C	c.(5107-5109)TTG>TCG	p.L1703S	LAMB4_uc003vey.2_Missense_Mutation_p.L1703S|LAMB4_uc010ljp.1_Missense_Mutation_p.L672S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	1703	Potential.|Domain I.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						ATCTCCAGCCAATTTTTCTGC	0.363		NA											48	21					0	0	0	0
FLNC	2318	broad.mit.edu	37	7	128478683	128478683	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:128478683G>C	uc003vnz.3	+	8	1446	c.1237G>C	c.(1237-1239)GTG>CTG	p.V413L	FLNC_uc003voa.3_Missense_Mutation_p.V413L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	413	Filamin 2.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						TGTTGCTGTGGTGATCGTGGA	0.657		NA											56	27					0	0	0	0
AHCYL2	23382	broad.mit.edu	37	7	129045020	129045020	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:129045020A>T	uc011kov.1	+	8	1162	c.1108A>T	c.(1108-1110)AAC>TAC	p.N370Y	AHCYL2_uc003vot.2_Missense_Mutation_p.N369Y|AHCYL2_uc003vov.2_Missense_Mutation_p.N267Y|AHCYL2_uc011kow.1_Missense_Mutation_p.N268Y|AHCYL2_uc011kox.1_Missense_Mutation_p.N267Y	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	S-adenosylhomocysteine hydrolase-like 2 isoform	370		NAD (By similarity).			one-carbon metabolic process		adenosylhomocysteinase activity			ovary(2)	2						GAAATTTGACAACCTCTACTG	0.423		NA											109	47					0	0	0	0
OR2F2	135948	broad.mit.edu	37	7	143633045	143633045	+	Silent	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:143633045G>T	uc011ktv.1	+	1	720	c.720G>T	c.(718-720)ACG>ACT	p.T240T		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	Melanoma(164;0.0903)					CCTTCCACACGTGTGCCTCTC	0.517		NA											46	26					1.76e-25	2.42e-25	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146741062	146741062	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr7:146741062G>A	uc003weu.1	+	4	982	c.466G>A	c.(466-468)GCC>ACC	p.A156T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	156	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCGATTATTGCCCGCTATGT	0.428		NA								HNSCC(39;0.1)			62	37					0	0	0	0
CSMD1	64478	broad.mit.edu	37	8	2832134	2832134	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:2832134C>T	uc011kwk.1	-	56	8972	c.8582G>A	c.(8581-8583)GGA>GAA	p.G2861E	CSMD1_uc011kwj.1_Missense_Mutation_p.G2190E|CSMD1_uc010lrg.2_Missense_Mutation_p.G871E	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2861	Sushi 21.|Extracellular (Potential).					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCTGGGTGTCCACACGATAT	0.498		NA											6	20					0	0	0	0
OPRK1	4986	broad.mit.edu	37	8	54163409	54163409	+	Silent	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:54163409C>G	uc003xrh.1	-	1	564	c.189G>C	c.(187-189)ACG>ACC	p.T63T	OPRK1_uc003xri.1_Silent_p.T63T|OPRK1_uc010lyc.1_5'UTR	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	63	Helical; Name=1; (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGTAGACCGCCGTGATGATGA	0.692		NA											27	10					0	0	0	0
JPH1	56704	broad.mit.edu	37	8	75227756	75227756	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:75227756C>G	uc003yae.2	-	2	519	c.479G>C	c.(478-480)CGT>CCT	p.R160P	JPH1_uc003yaf.2_Missense_Mutation_p.R160P|JPH1_uc003yag.1_Missense_Mutation_p.R24P	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	160	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CAGCGAGGTACGCAGCGGTGA	0.731		NA											16	7					0	0	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775753	77775753	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:77775753C>G	uc003yav.2	+	11	10055	c.9668C>G	c.(9667-9669)CCT>CGT	p.P3223R		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACTTTATCCCTGGGTTTGCT	0.493		NA								HNSCC(33;0.089)			66	31					0	0	0	0
VPS13B	157680	broad.mit.edu	37	8	100146859	100146859	+	Splice_Site	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:100146859G>T	uc003yiv.2	+	9	1318	c.1207_splice	c.e9-1	p.L403_splice	VPS13B_uc003yiw.2_Splice_Site_p.L403_splice|VPS13B_uc003yit.2_Splice_Site_p.L403_splice|VPS13B_uc003yiu.1_Splice_Site_p.L403_splice|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5						protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATATTTCTTAGCTCACAGAAA	0.279		NA											21	44					1.96e-10	2.33e-10	1	0
YWHAZ	7534	broad.mit.edu	37	8	101936241	101936241	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:101936241C>A	uc011lhe.1	-	5	797	c.620G>T	c.(619-621)AGT>ATT	p.S207I	YWHAZ_uc003yjv.2_Missense_Mutation_p.S207I|YWHAZ_uc011lhf.1_Missense_Mutation_p.S207I|YWHAZ_uc003yjw.2_Missense_Mutation_p.S207I|YWHAZ_uc010mbq.2_Missense_Mutation_p.S130I|YWHAZ_uc011lhg.1_Missense_Mutation_p.S87I|YWHAZ_uc010mbr.2_Missense_Mutation_p.S207I|YWHAZ_uc003yjx.2_Missense_Mutation_p.S207I|YWHAZ_uc003yjy.2_Missense_Mutation_p.S207I	NM_001135702	NP_001129174	P63104	1433Z_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	207					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding				0	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TGACTCTTCACTTAATGTATC	0.333		NA											92	114					8.93e-32	1.26e-31	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110468491	110468491	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:110468491G>C	uc003yne.2	+	46	6979	c.6875G>C	c.(6874-6876)GGT>GCT	p.G2292A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2292	Extracellular (Potential).|G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGTTCTAGGTGTGCCTGTT	0.373		NA								HNSCC(38;0.096)			12	43					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509268	110509268	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:110509268C>A	uc003yne.2	+	64	10552	c.10448C>A	c.(10447-10449)ACA>AAA	p.T3483K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3483	PbH1 8.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCATTTGGACATGCTGGGAT	0.338		NA								HNSCC(38;0.096)			56	137					4.26e-23	5.75e-23	1	0
MYC	4609	broad.mit.edu	37	8	128753024	128753024	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:128753024G>T	uc003ysi.2	+	3	1710	c.1185G>T	c.(1183-1185)CAG>CAT	p.Q395H		NM_002467	NP_002458	P01106	MYC_HUMAN	myc proto-oncogene protein	380	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Q380Q(1)		lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)		TGCGTGACCAGATCCCGGAGT	0.517		3	A|T	IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@	Burkitt lymphoma| amplified in other cancers|B-CLL								94	314					2.77e-59	4.12e-59	1	0
BAI1	575	broad.mit.edu	37	8	143558514	143558514	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:143558514G>A	uc003ywm.2	+	4	1280	c.1097G>A	c.(1096-1098)TGC>TAC	p.C366Y		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	366	Extracellular (Potential).|TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGGAGCGTGTGCTCCAGCACC	0.716		NA											11	24					0	0	0	0
FBXL6	26233	broad.mit.edu	37	8	145579649	145579649	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr8:145579649C>T	uc003zcb.2	-	8	1476	c.1451G>A	c.(1450-1452)CGG>CAG	p.R484Q	C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.R211Q|FBXL6_uc003zca.2_Missense_Mutation_p.R478Q|FBXL6_uc010mfx.2_Missense_Mutation_p.R245Q|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6 isoform	484	LRR 11.				proteolysis		ubiquitin-protein ligase activity			ovary(1)|lung(1)	2	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGGTGTGACCCGGGTGCCCCT	0.632		NA											10	255					0	0	0	0
FAM122A	116224	broad.mit.edu	37	9	71395259	71395259	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:71395259G>T	uc004agw.1	+	1	296	c.179G>T	c.(178-180)CGG>CTG	p.R60L	PIP5K1B_uc004agu.2_Intron|PIP5K1B_uc011lrq.1_Intron|PIP5K1B_uc004agv.2_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	hypothetical protein LOC116224	60											0						AGCGCCAGGCGGAACAGCACA	0.697		NA											77	11					1.36e-49	2.01e-49	1	0
KIAA1529	57653	broad.mit.edu	37	9	100079416	100079416	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:100079416A>C	uc011lut.1	+	21	2187	c.1414A>C	c.(1414-1416)ACC>CCC	p.T472P	KIAA1529_uc004axe.1_Missense_Mutation_p.T472P|KIAA1529_uc004axg.1_Missense_Mutation_p.T333P|KIAA1529_uc011lus.1_Missense_Mutation_p.T290P|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Missense_Mutation_p.T333P|KIAA1529_uc011luv.1_Missense_Mutation_p.T330P	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)				GATGGAGTCCACCCTGCAGCA	0.602		NA											10	124					0	0	0	0
RNF20	56254	broad.mit.edu	37	9	104319794	104319794	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:104319794G>A	uc004bbn.2	+	16	2388	c.2298G>A	c.(2296-2298)GAG>GAA	p.E766E		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	ring finger protein 20	766	Potential.				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCATGTCAGAGCGTATCAAGT	0.453		NA											77	13					0	0	0	0
SLC44A1	23446	broad.mit.edu	37	9	108136948	108136948	+	Missense_Mutation	SNP	C	C	G	rs71801338		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:108136948C>G	uc004bcn.2	+	13	1785	c.1564C>G	c.(1564-1566)CTG>GTG	p.L522V	SLC44A1_uc010mtk.1_Missense_Mutation_p.L522V|SLC44A1_uc004bco.1_Missense_Mutation_p.L314V	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	522	Mitochondrial intermembrane (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)	CTTTGTCATTCTGGTGGAGAA	0.418		NA											100	135					0	0	0	0
FKBP15	23307	broad.mit.edu	37	9	115983487	115983487	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:115983487G>A	uc004bgs.2	-	1	155	c.37C>T	c.(37-39)CTC>TTC	p.L13F	FKBP15_uc010muu.1_Missense_Mutation_p.L77F|SLC31A1_uc004bgu.2_5'Flank|SLC31A1_uc004bgv.3_5'Flank|FKBP15_uc011lxd.1_5'UTR|FKBP15_uc010mut.1_5'UTR|FKBP15_uc004bgt.2_Missense_Mutation_p.L13F	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	13					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3						CTCGGCGAGAGGAAATCGGTG	0.627		NA											25	5					0	0	0	0
OR1J2	26740	broad.mit.edu	37	9	125273992	125273992	+	Silent	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:125273992C>A	uc004bmj.1	+	4	1767	c.912C>A	c.(910-912)CTC>CTA	p.L304L	OR1J2_uc011lyv.1_Silent_p.L304L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J,	304	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|pancreas(1)|breast(1)	5						TTGGGAAACTCTTCAGTAGAG	0.383		NA											93	21					3.59e-34	5.13e-34	1	0
OR1L4	254973	broad.mit.edu	37	9	125486583	125486583	+	Silent	SNP	C	C	T	rs139043736	by1000genomes	TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:125486583C>T	uc004bmu.1	+	1	315	c.315C>T	c.(313-315)TTC>TTT	p.F105F		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TGTACTTCTTCATGGCATTTG	0.473		NA											4	219					0	0	0	0
BARHL1	56751	broad.mit.edu	37	9	135464656	135464656	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:135464656T>A	uc004cbp.1	+	3	923	c.731T>A	c.(730-732)CTG>CAG	p.L244Q		NM_020064	NP_064448	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	244						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TTGGAGCTGCTGGCGGAGGCA	0.632		NA											178	22					0	0	0	0
DBH	1621	broad.mit.edu	37	9	136505046	136505046	+	Missense_Mutation	SNP	C	C	A	rs78929918		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:136505046C>A	uc004cel.2	+	2	427	c.418C>A	c.(418-420)CCA>ACA	p.P140T		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	140	DOMON.|Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GCAGAGGACCCCAGAAGGCCT	0.617		NA											26	8					4.88e-14	6.08e-14	1	0
NOTCH1	4851	broad.mit.edu	37	9	139412204	139412204	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr9:139412204C>A	uc004chz.2	-	8	1441	c.1441G>T	c.(1441-1443)GGC>TGC	p.G481C		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	481	Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGACGCACCGGGCATGCAG	0.667		NA	T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			48	14					1.07e-20	1.43e-20	1	0
ASMT	438	broad.mit.edu	37	X	1748783	1748783	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:1748783G>A	uc004cqd.2	+	6	658	c.513G>A	c.(511-513)GTG>GTA	p.V171V	ASMT_uc010ncy.2_Silent_p.V171V|ASMT_uc004cqe.2_Silent_p.V171V	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	171					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGAAGCGTGCTGACCGCCT	0.552		NA											110	156					0	0	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736646	12736646	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:12736646C>T	uc004cuz.1	+	16	4207	c.3701C>T	c.(3700-3702)CCC>CTC	p.P1234L	FRMPD4_uc011mij.1_Missense_Mutation_p.P1226L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1234					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13						TGTGCCACACCCGTGGAGTCG	0.597		NA											92	23					0	0	0	0
SCML2	10389	broad.mit.edu	37	X	18338540	18338540	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:18338540C>G	uc004cyl.2	-	6	555	c.398G>C	c.(397-399)GGG>GCG	p.G133A	SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.G133A|SCML2_uc011miz.1_Missense_Mutation_p.G67A	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2	133					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0	Hepatocellular(33;0.183)					CATCTGGTACCCTGTTTTATA	0.353		NA											56	10					0	0	0	0
FAM47B	170062	broad.mit.edu	37	X	34962248	34962248	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:34962248C>A	uc004ddi.1	+	1	1318	c.1300C>A	c.(1300-1302)CAT>AAT	p.H434N		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	434										ovary(3)|breast(1)	4						CGGAGCGTCCCATCTAAAAGA	0.517		NA											44	14					8.21e-20	1.08e-19	1	0
DGKK	139189	broad.mit.edu	37	X	50121610	50121610	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:50121610C>T	uc010njr.1	-	21	3002	c.2942G>A	c.(2941-2943)CGT>CAT	p.R981H		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	981					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GTTGATGATACGGGACATTGC	0.542		NA											10	5					0	0	0	0
DGKK	139189	broad.mit.edu	37	X	50127734	50127734	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:50127734C>G	uc010njr.1	-	16	2496	c.2436G>C	c.(2434-2436)CAG>CAC	p.Q812H		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	diacylglycerol kinase kappa	812					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)	2	Ovarian(276;0.236)					GTGGGCTTGTCTGGTTAATAT	0.388		NA											113	25					0	0	0	0
ATP7A	538	broad.mit.edu	37	X	77294477	77294477	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:77294477G>T	uc004ecx.3	+	18	3815	c.3655G>T	c.(3655-3657)GAT>TAT	p.D1219Y		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1219	Cytoplasmic (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						AGTAGCAGTTGATGGTAAGGT	0.323		NA											62	18					2.34e-45	3.44e-45	1	0
POU3F4	5456	broad.mit.edu	37	X	82763828	82763828	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:82763828C>A	uc004eeg.2	+	1	560	c.496C>A	c.(496-498)CTC>ATC	p.L166I		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	166					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						GCACCCGGTGCTCCGAGAGCC	0.647		NA											6	1					0.00307968	0.00325998	1	0
GPRASP2	114928	broad.mit.edu	37	X	101970808	101970808	+	Silent	SNP	G	G	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:101970808G>A	uc004ejk.2	+	4	2345	c.1011G>A	c.(1009-1011)CAG>CAA	p.Q337Q	GPRASP2_uc004ejl.2_Silent_p.Q337Q|GPRASP2_uc004ejm.2_Silent_p.Q337Q|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	337						cytoplasm	protein binding			ovary(1)	1						TCTATAAGCAGTCCTGGGTTT	0.458		NA											71	19					0	0	0	0
COL4A5	1287	broad.mit.edu	37	X	107930715	107930715	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:107930715C>T	uc004enz.1	+	48	4521	c.4319C>T	c.(4318-4320)ACC>ATC	p.T1440I	COL4A5_uc011mso.1_Missense_Mutation_p.T1437I|COL4A5_uc011msp.1_Missense_Mutation_p.T116I	NM_033380	NP_203699	P29400	CO4A5_HUMAN	type IV collagen alpha 5 isoform 2 precursor	1434	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(3)|central_nervous_system(1)	4						GAAATAGGTACCCGTGGTTTG	0.443		NA							Alport_syndrome_with_Diffuse_Leiomyomatosis				99	25					0	0	0	0
CD40LG	959	broad.mit.edu	37	X	135741549	135741549	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:135741549C>A	uc004faa.2	+	5	833	c.761C>A	c.(760-762)ACG>AAG	p.T254K	CD40LG_uc010nsd.2_Missense_Mutation_p.T233K	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	254	Extracellular (Potential).		T -> M (in HIGM1).		anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	ACTGGCTTCACGTCCTTTGGC	0.507		NA							Immune_Deficiency_with_Hyper-IgM				66	15					9.5e-31	1.33e-30	1	0
MAGEC1	9947	broad.mit.edu	37	X	140993927	140993927	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chrX:140993927T>A	uc004fbt.2	+	4	1023	c.737T>A	c.(736-738)CTG>CAG	p.L246Q	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	246							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTTTACTGAGTCTTTTC	0.498		NA								HNSCC(15;0.026)			207	38					0	0	0	0
GRIK4	2900	broad.mit.edu	37	11	120690619	120690620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr11:120690619_120690620insA	uc001pxn.2	+	6	788_789	c.501_502insA	c.(499-504)GCCAAAfs	p.A167fs	GRIK4_uc009zav.1_Frame_Shift_Ins_p.A167fs|GRIK4_uc009zaw.1_Frame_Shift_Ins_p.A167fs|GRIK4_uc009zax.1_Frame_Shift_Ins_p.A167fs	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	167_168	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	TCATCTGTGCCAAAGCAGAATG	0.569		NA											111	70	---	---	---	---	NA	NA	NA	NA
MLL2	8085	broad.mit.edu	37	12	49445506	49445506	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr12:49445506delA	uc001rta.3	-	10	1960	c.1960delT	c.(1960-1962)TCCfs	p.S654fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	654	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GGCAGGGGGGATAGGCGCGAT	0.637		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			31	52	---	---	---	---	NA	NA	NA	NA
FAM48A	55578	broad.mit.edu	37	13	37619383	37619383	+	Splice_Site	DEL	C	C	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr13:37619383delC	uc001uwg.2	-	6	540	c.292_splice	c.e6+1	p.D98_splice	FAM48A_uc010abt.2_Splice_Site_p.D99_splice|FAM48A_uc001uwh.2_Splice_Site_p.D99_splice|FAM48A_uc001uwi.2_Splice_Site_p.D98_splice|FAM48A_uc001uwj.2_Splice_Site_p.D99_splice|FAM48A_uc001uwk.2_Splice_Site_p.D98_splice|FAM48A_uc010tes.1_Splice_Site_p.D86_splice|FAM48A_uc001uwl.1_Splice_Site_p.D98_splice	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A						autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		GAGGGTCTTACCTGATCCGTT	0.413		NA											22	41	---	---	---	---	NA	NA	NA	NA
LILRB2	10288	broad.mit.edu	37	19	54782747	54782747	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr19:54782747delC	uc002qfb.2	-	6	1141	c.875delG	c.(874-876)GGCfs	p.G292fs	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Frame_Shift_Del_p.G292fs|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Frame_Shift_Del_p.G292fs|LILRB2_uc010yet.1_Frame_Shift_Del_p.G176fs|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	292	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCTGTACTGGCCCCCGTAGGA	0.677		NA											47	50	---	---	---	---	NA	NA	NA	NA
THADA	63892	broad.mit.edu	37	2	43801749	43801751	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:43801749_43801751delCAT	uc002rsw.3	-	11	1805_1807	c.1453_1455delATG	c.(1453-1455)ATGdel	p.M485del	THADA_uc002rsx.3_In_Frame_Del_p.M485del|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_In_Frame_Del_p.M195del|THADA_uc002rta.2_In_Frame_Del_p.M195del|THADA_uc002rtb.1_In_Frame_Del_p.M485del|THADA_uc002rtc.3_In_Frame_Del_p.M485del|THADA_uc002rtd.2_In_Frame_Del_p.M485del	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	485							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACTGGTCTCCCATCACCTCTAAG	0.394		NA											8	189	---	---	---	---	NA	NA	NA	NA
SPHKAP	80309	broad.mit.edu	37	2	228883596	228883596	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr2:228883596delG	uc002vpq.2	-	7	2021	c.1974delC	c.(1972-1974)TGCfs	p.C658fs	SPHKAP_uc002vpp.2_Frame_Shift_Del_p.C658fs|SPHKAP_uc010zlx.1_Frame_Shift_Del_p.C658fs	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	658						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATTTTCTGAGCACAGGGTCT	0.433		NA											107	51	---	---	---	---	NA	NA	NA	NA
SLC24A3	57419	broad.mit.edu	37	20	19566110	19566110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr20:19566110delG	uc002wrl.2	+	6	731	c.534delG	c.(532-534)GTGfs	p.V178fs		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	solute carrier family 24	178	Extracellular (Potential).|Alpha-1.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(1)	1						AAGGCGATGTGGGAGTTGGCA	0.547		NA											21	174	---	---	---	---	NA	NA	NA	NA
GPR128	84873	broad.mit.edu	37	3	100349575	100349576	+	Frame_Shift_Ins	INS	-	-	TT	rs146877111		TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:100349575_100349576insTT	uc003duc.2	+	3	524_525	c.256_257insTT	c.(256-258)ATGfs	p.M86fs		NM_032787	NP_116176	Q96K78	GP128_HUMAN	G protein-coupled receptor 128 precursor	86	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)|skin(1)	4						TAGTACCTATATGGGTTTTACT	0.312		NA											33	120	---	---	---	---	NA	NA	NA	NA
TRAT1	50852	broad.mit.edu	37	3	108572466	108572466	+	Splice_Site	DEL	G	G	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:108572466delG	uc003dxi.1	+	6	448	c.304_splice	c.e6-1	p.A102_splice	TRAT1_uc010hpx.1_Splice_Site_p.A65_splice	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule						cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1						CTTTCTTTTAGGCAACCAATG	0.403		NA											50	215	---	---	---	---	NA	NA	NA	NA
PLXND1	23129	broad.mit.edu	37	3	129293227	129293227	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-4076-01A-01D-1434-08	TCGA-BA-4076-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	93dda6a6-907d-4dc2-9391-36dd09c767c6	d6c21ecb-1cb2-45fd-84c0-186287708883	g.chr3:129293227delC	uc003emx.2	-	12	2737	c.2637delG	c.(2635-2637)GGGfs	p.G879fs		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	879	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						GCTGCAGAGGCCCCCGCAGGC	0.687		NA											10	25	---	---	---	---	NA	NA	NA	NA
