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
ACAP3	116983	broad.mit.edu	37	1	1236026	1236026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:1236026G>A	uc001aeb.2	-	6	459	c.385C>T	c.(385-387)CGG>TGG	p.R129W	ACAP3_uc001ady.2_5'Flank|ACAP3_uc001aea.2_Missense_Mutation_p.R87W|ACAP3_uc001aec.1_Missense_Mutation_p.R87W	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	129					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						AGGTCCTCCCGCACCTTGTCA	0.647		NA											11	45					0	0	0	0
UBE4B	10277	broad.mit.edu	37	1	10132157	10132157	+	Silent	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:10132157C>A	uc001aqs.3	+	2	809	c.96C>A	c.(94-96)CCC>CCA	p.P32P	UBE4B_uc001aqr.3_Silent_p.P32P|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	32					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TCACCTCTCCCCAGAGGGAGA	0.597		NA											17	47					1.34e-09	1.59e-09	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672							cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418		NA											4	62					0	0	0	0
ARID1A	8289	broad.mit.edu	37	1	27106228	27106228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:27106228C>T	uc001bmv.1	+	20	6212	c.5839C>T	c.(5839-5841)CAG>TAG	p.Q1947*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1730*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q793*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.Q275*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.Q189*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAGCCCAGCACAGAGCCACCG	0.532		NA	Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								18	73					0	0	0	0
EPHA10	284656	broad.mit.edu	37	1	38227731	38227731	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:38227731C>G	uc009vvi.2	-	3	282	c.196G>C	c.(196-198)GAA>CAA	p.E66Q	EPHA10_uc001cbw.3_Missense_Mutation_p.E66Q	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	EPH receptor A10 isofom 3	66	Extracellular (Potential).					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			breast(4)|stomach(3)|lung(1)	8	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGTCGTGTTCATCCACGCCG	0.617		NA											8	56					0	0	0	0
MACF1	23499	broad.mit.edu	37	1	39854051	39854052	+	Nonsense_Mutation	DNP	TG	TG	AT			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:39854051_39854052TG>AT	uc010oiu.1	+	22	10988_10989	c.10857_10858TG>AT	c.(10855-10860)TCTGAA>TCATAA	p.E3620*	MACF1_uc010ois.1_Nonsense_Mutation_p.E3118*|MACF1_uc001cda.1_Nonsense_Mutation_p.E3005*|MACF1_uc001cdc.1_Nonsense_Mutation_p.E2184*	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	5185	LRR 20.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAGAGGCCTCTGAAGCAGAGTG	0.47		NA											5	40					0	0	0	0
C8B	732	broad.mit.edu	37	1	57415426	57415426	+	Splice_Site	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:57415426C>A	uc001cyp.2	-	6	734	c.667_splice	c.e6-1	p.T223_splice	C8B_uc010oon.1_Splice_Site_p.T161_splice|C8B_uc010ooo.1_Splice_Site_p.T171_splice	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide						complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4						TGCCTTGGGTCTAAAGAAGAA	0.269		NA											8	26					6.55e-12	7.92e-12	1	0
ZNF644	84146	broad.mit.edu	37	1	91406244	91406244	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:91406244C>G	uc001dnw.2	-	3	809	c.667G>C	c.(667-669)GAG>CAG	p.E223Q	ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.E223Q	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	zinc finger protein 644 isoform 1	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCACCCACCTCTACTTGATTT	0.373		NA											35	171					0	0	0	0
VCAM1	7412	broad.mit.edu	37	1	101186049	101186049	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:101186049G>C	uc001dti.2	+	2	202	c.82G>C	c.(82-84)GAG>CAG	p.E28Q	VCAM1_uc001dtj.2_Missense_Mutation_p.E28Q|VCAM1_uc010ouj.1_Missense_Mutation_p.E28Q	NM_001078	NP_001069	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1 isoform a	28	Ig-like C2-type 1.|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)	TTTTAAAATCGAGACCACCCC	0.413		NA											8	111					0	0	0	0
C1orf103	55791	broad.mit.edu	37	1	111494331	111494331	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:111494331C>A	uc001eaa.2	-	2	1431	c.1175G>T	c.(1174-1176)AGA>ATA	p.R392I	C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		CGTGTCTTTTCTTACTGGAGT	0.388		NA											33	237					2.08e-15	2.54e-15	1	0
NBPF7	343505	broad.mit.edu	37	1	120386968	120386968	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:120386968A>G	uc010oxk.1	-	1	812	c.191T>C	c.(190-192)GTA>GCA	p.V64A		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	64						cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CATTTGAGTTACAAGAAATTT	0.428		NA									OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	70					0	0	0	0
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:152327955G>A	uc001ezw.3	-	3	2380	c.2307C>T	c.(2305-2307)AGC>AGT	p.S769S	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517		NA											23	411					0	0	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154523418	154523418	+	Silent	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:154523418T>C	uc001fff.1	-	12	1324	c.1233A>G	c.(1231-1233)AAA>AAG	p.K411K		NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q	411							ATP binding|protein binding|ubiquitin-protein ligase activity				0	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCACCGTTTTTTTCGTGGA	0.532		NA											49	129					0	0	0	0
SHC1	6464	broad.mit.edu	37	1	154938440	154938440	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:154938440G>A	uc001ffv.2	-	10	1587	c.1366C>T	c.(1366-1368)CGG>TGG	p.R456W	SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Missense_Mutation_p.R227W|SHC1_uc001ffw.2_Missense_Mutation_p.R457W|SHC1_uc001ffx.2_Missense_Mutation_p.R347W|SHC1_uc001ffy.2_Missense_Mutation_p.R346W	NM_183001	NP_892113	P29353	SHC1_HUMAN	SHC-transforming protein 1 isoform 1	456	Pro-rich.|CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(1)|skin(1)	2	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACAGGTCCCGGGGTGCACTG	0.562		NA											26	91					0	0	0	0
OR6N1	128372	broad.mit.edu	37	1	158735880	158735880	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:158735880A>G	uc010piq.1	-	1	593	c.593T>C	c.(592-594)GTA>GCA	p.V198A		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					AACAAAATCTACTAGGACATT	0.483		NA											10	90					0	0	0	0
CCDC19	25790	broad.mit.edu	37	1	159842833	159842833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:159842833C>T	uc001fui.2	-	11	1496	c.1478G>A	c.(1477-1479)CGG>CAG	p.R493Q	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.R408Q|CCDC19_uc001ful.2_Missense_Mutation_p.R408Q	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	493	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GGTGGCAATCCGGTTCTGCAC	0.597		NA											6	77					0	0	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186909195	186909195	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:186909195C>T	uc001gsc.2	+	10	1207	c.1002C>T	c.(1000-1002)GTC>GTT	p.V334V	PLA2G4A_uc010pos.1_Silent_p.V274V	NM_024420	NP_077734	P47712	PA24A_HUMAN	cytosolic phospholipase A2, group IVA	334	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			lung(2)|breast(1)	3					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GTCTTCATGTCAAACCTGACG	0.418		NA											5	87					0	0	0	0
CR1L	1379	broad.mit.edu	37	1	207867934	207867934	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:207867934A>G	uc001hga.3	+	5	821	c.700A>G	c.(700-702)AAT>GAT	p.N234D	CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	234	Sushi 4.					cytoplasm|extracellular region|membrane					0						CACGCCTCCAAATGTGGAAAA	0.473		NA											8	338					0	0	0	0
SLC30A10	55532	broad.mit.edu	37	1	220088985	220088985	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:220088985G>C	uc001hlw.2	-	4	1475	c.1264C>G	c.(1264-1266)CTG>GTG	p.L422V	SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Missense_Mutation_p.L177V|SLC30A10_uc001hlx.2_Missense_Mutation_p.L197V	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	solute carrier family 30 (zinc transporter),	422	Cytoplasmic (Potential).				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity				0				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ACGTGAGCCAGAGGCAGTGCC	0.567		NA											31	61					0	0	0	0
HNRNPU	3192	broad.mit.edu	37	1	245019248	245019248	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr1:245019248G>A	uc001iaz.1	-	11	2343	c.2125C>T	c.(2125-2127)CGT>TGT	p.R709C	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Missense_Mutation_p.R433C|HNRNPU_uc001iba.1_Missense_Mutation_p.R690C	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	709	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AATCCTCCACGTCCTCTATGG	0.403		NA											12	206					0	0	0	0
FBXO18	84893	broad.mit.edu	37	10	5958323	5958323	+	Silent	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:5958323T>C	uc001iis.2	+	10	1787	c.1692T>C	c.(1690-1692)TTT>TTC	p.F564F	FBXO18_uc001iir.2_Silent_p.F490F|FBXO18_uc009xig.2_Silent_p.F490F|FBXO18_uc001iit.2_Silent_p.F615F	NM_178150	NP_835363	Q8NFZ0	FBX18_HUMAN	F-box only protein, helicase, 18 isoform 2	564					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(2)|skin(1)	3						AAAACTTCTTTGCCTCGGCTG	0.468		NA											6	98					0	0	0	0
CUBN	8029	broad.mit.edu	37	10	17126316	17126316	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:17126316T>A	uc001ioo.2	-	17	2307	c.2255A>T	c.(2254-2256)CAC>CTC	p.H752L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	752	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCTCCACGTGGGTGAAGTT	0.438		NA											7	62					0	0	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315990	30315990	+	Silent	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:30315990C>G	uc001iux.2	-	2	3146	c.3087G>C	c.(3085-3087)GGG>GGC	p.G1029G	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.G891G|KIAA1462_uc009xle.1_Silent_p.G1029G	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	1029										ovary(4)	4						GGAGCCCTGCCCCCCTCTCTC	0.587		NA											27	96					0	0	0	0
ZNF239	8187	broad.mit.edu	37	10	44052206	44052206	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:44052206C>A	uc001jaw.3	-	2	1975	c.1322G>T	c.(1321-1323)AGC>ATC	p.S441I	ZNF239_uc001jax.3_Missense_Mutation_p.S441I|ZNF239_uc009xmj.2_Missense_Mutation_p.S441I|ZNF239_uc009xmk.2_Missense_Mutation_p.S441I	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	441	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0						GGAGCTCTGGCTGAAGCCCTT	0.502		NA											5	28					0.00116845	0.00126263	1	0
BICC1	80114	broad.mit.edu	37	10	60461890	60461890	+	Silent	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:60461890C>A	uc001jki.1	+	3	294	c.294C>A	c.(292-294)GCC>GCA	p.A98A		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	98					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AGATCGGAGCCAAATCCAAGA	0.373		NA											6	33					0.00116845	0.00126263	1	0
LRIT1	26103	broad.mit.edu	37	10	85992510	85992510	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:85992510G>T	uc001kcz.1	-	4	1067	c.1045C>A	c.(1045-1047)CCG>ACG	p.P349T		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	349	Lumenal (Potential).					integral to endoplasmic reticulum membrane					0						GTGGAAGTCGGTGGCTCAGTG	0.567		NA											3	35					0.004672	0.00496111	1	0
ACTA2	59	broad.mit.edu	37	10	90707105	90707105	+	Silent	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:90707105C>G	uc001kfp.2	-	3	284	c.168G>C	c.(166-168)GTG>GTC	p.V56V	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Silent_p.V11V|ACTA2_uc001kfq.2_Silent_p.V56V|ACTA2_uc010qmz.1_Silent_p.V56V	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	56					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CTTCGTCACCCACGTAGCTGT	0.473		NA											34	117					0	0	0	0
HPS1	3257	broad.mit.edu	37	10	100195167	100195167	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:100195167C>G	uc010qpf.1	-	5	506	c.260G>C	c.(259-261)GGA>GCA	p.G87A	HPS1_uc001kpi.1_Missense_Mutation_p.G87A|HPS1_uc001kpj.1_Missense_Mutation_p.G27A|HPS1_uc001kpk.1_Intron|HPS1_uc009xwb.2_RNA|HPS1_uc010qph.1_Missense_Mutation_p.G87A|HPS1_uc001kpl.2_Missense_Mutation_p.G87A	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1 protein isoform a	87					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			skin(1)	1		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CAGGCATTCTCCAAACTGCAG	0.597		NA							Hermansky-Pudlak_syndrome				5	55					0	0	0	0
CNNM1	26507	broad.mit.edu	37	10	101090475	101090475	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:101090475C>G	uc001kpp.3	+	1	1620	c.1331C>G	c.(1330-1332)TCA>TGA	p.S444*	CNNM1_uc009xwe.2_Nonsense_Mutation_p.S444*|CNNM1_uc010qpi.1_Nonsense_Mutation_p.S444*|CNNM1_uc009xwf.2_Nonsense_Mutation_p.S444*	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	cyclin M1	444	CBS 1.			S -> P (in Ref. 4; AAH98307).	ion transport	integral to membrane|plasma membrane					0		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ATGCTGCGCTCAGACGCGGTG	0.612		NA											8	47					0	0	0	0
ELOVL3	83401	broad.mit.edu	37	10	103989006	103989006	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:103989006G>T	uc001kut.2	+	4	973	c.810G>T	c.(808-810)CAG>CAT	p.Q270H		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	elongation of very long chain fatty acids like	270	Di-lysine motif (Potential).				fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			ovary(2)	2		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCAAGAGCCAGTGAAGGTTTG	0.493		NA									OREG0020475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	41					0.004672	0.00496111	1	0
C10orf79	80217	broad.mit.edu	37	10	105967445	105967445	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr10:105967445C>A	uc001kxw.2	-	6	989	c.873G>T	c.(871-873)AAG>AAT	p.K291N	C10orf79_uc001kxx.3_Missense_Mutation_p.K291N|C10orf79_uc001kxy.1_Missense_Mutation_p.K291N|C10orf79_uc001kxz.2_Missense_Mutation_p.K291N	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	291											0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		CCTCTTCTATCTTATTAAGTA	0.393		NA											13	98					0.00010058	0.000112367	1	0
OR52N1	79473	broad.mit.edu	37	11	5809578	5809578	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:5809578G>T	uc010qzo.1	-	1	469	c.469C>A	c.(469-471)CTT>ATT	p.L157I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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)		GGGATAACAAGCATCACACCC	0.507		NA											9	35					0.000442599	0.000484375	1	0
OR10A2	341276	broad.mit.edu	37	11	6891559	6891559	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:6891559C>G	uc001meu.1	+	1	574	c.574C>G	c.(574-576)CTG>GTG	p.L192V		NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A,	192	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGGAACCATTCTGGTGGTCAT	0.502		NA											20	106					0	0	0	0
CALCA	796	broad.mit.edu	37	11	14989343	14989343	+	Silent	SNP	T	T	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:14989343T>G	uc001mlt.1	-	4	360	c.285A>C	c.(283-285)GCA>GCC	p.A95A	CALCA_uc001mlu.1_RNA	NM_001033953	NP_001029125	P06881	CALCA_HUMAN	calcitonin isoform CGRP preproprotein	95					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)	1					Phentolamine(DB00692)	TCAGCAAGCCTGCCAGCCGAT	0.542		NA											10	75					0	0	0	0
OR4C12	283093	broad.mit.edu	37	11	50003965	50003965	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:50003965T>G	uc010ria.1	-	1	73	c.73A>C	c.(73-75)ACG>CCG	p.T25P		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	25	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						ACTACAAACGTGACTTTCTCC	0.408		NA											6	54					0	0	0	0
NPAS4	266743	broad.mit.edu	37	11	66191816	66191816	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:66191816G>A	uc001ohx.1	+	7	1631	c.1455G>A	c.(1453-1455)CTG>CTA	p.L485L	NPAS4_uc010rpc.1_Silent_p.L275L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	485					transcription, DNA-dependent		DNA binding|signal transducer activity				0						CTAGCCCACTGCAAGGCCAGT	0.557		NA											136	217					0	0	0	0
PC	5091	broad.mit.edu	37	11	66638327	66638327	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:66638327C>T	uc001ojn.1	-	6	719	c.670G>A	c.(670-672)GCT>ACT	p.A224T	PC_uc001ojo.1_Missense_Mutation_p.A224T|PC_uc001ojp.1_Missense_Mutation_p.A224T	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	224	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GCGGCCAGAGCCTCTGAGTAG	0.637		NA											35	214					0	0	0	0
PPFIA1	8500	broad.mit.edu	37	11	70224267	70224267	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:70224267C>T	uc001opo.2	+	26	3714	c.3516C>T	c.(3514-3516)TCC>TCT	p.S1172S	PPFIA1_uc001opn.1_Silent_p.S1172S|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opr.2_Silent_p.S311S|PPFIA1_uc001ops.2_Silent_p.S211S|uc001opt.1_Intron	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	1172					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTATGTCTTCCCCCTCTATGC	0.488		NA											20	215					0	0	0	0
PAK1	5058	broad.mit.edu	37	11	77066805	77066805	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:77066805T>C	uc001oyh.3	-	7	1213	c.680A>G	c.(679-681)AAT>AGT	p.N227S	PAK1_uc010rso.1_Missense_Mutation_p.N129S|PAK1_uc001oyg.3_Missense_Mutation_p.N227S|PAK1_uc001oyi.1_Missense_Mutation_p.N227S|PAK1_uc010rsn.1_Intron	NM_002576	NP_002567	Q13153	PAK1_HUMAN	p21-activated kinase 1 isoform 2	227	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			skin(2)|stomach(1)|lung(1)	4	all_cancers(14;1.75e-18)					AGTGGTGTTATTTTCAGTAGG	0.443		NA											36	69					0	0	0	0
PANX1	24145	broad.mit.edu	37	11	93911630	93911630	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:93911630G>C	uc001per.2	+	3	802	c.417G>C	c.(415-417)TTG>TTC	p.L139F	PANX1_uc001peq.2_Missense_Mutation_p.L139F	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	pannexin 1	139	Cytoplasmic (Potential).				positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTCAGACTTGAAGTTTATCA	0.493		NA											9	42					0	0	0	0
BSX	390259	broad.mit.edu	37	11	122848470	122848470	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:122848470C>T	uc010rzs.1	-	3	589	c.589G>A	c.(589-591)GCC>ACC	p.A197T		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	brain specific homeobox	197											0		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GCCTCGGCGGCGGTGGCGGCC	0.672		NA											3	27					0	0	0	0
ETS1	2113	broad.mit.edu	37	11	128354827	128354827	+	Silent	SNP	C	C	G	rs142070153	byFrequency	TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr11:128354827C>G	uc010sbs.1	-	5	937	c.621G>C	c.(619-621)TCG>TCC	p.S207S	ETS1_uc001qej.2_Silent_p.S251S|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Silent_p.S207S	NM_005238	NP_005229	P14921	ETS1_HUMAN	v-ets erythroblastosis virus E26 oncogene	207					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			lung(4)|central_nervous_system(1)|pleura(1)	6	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GGAGAATGACCGAGGGGTAGT	0.517		NA											27	55					0	0	0	0
TAPBPL	55080	broad.mit.edu	37	12	6566666	6566666	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:6566666G>C	uc001qog.3	+	4	898	c.660G>C	c.(658-660)TTG>TTC	p.L220F	TAPBPL_uc001qoh.3_Missense_Mutation_p.L78F|TAPBPL_uc001qoi.1_RNA	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	TAP binding protein-like precursor	220	Lumenal (Potential).|Ig-like V-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane					0						CACCGGGCTTGGACCTCATCA	0.622		NA											12	74					0	0	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847863	18847863	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:18847863G>T	uc010sid.1	-	12	1633	c.1442C>A	c.(1441-1443)CCA>CAA	p.P481Q	PLCZ1_uc001rdv.3_Missense_Mutation_p.P377Q|PLCZ1_uc001rdw.3_Missense_Mutation_p.P222Q|PLCZ1_uc001rdu.1_Missense_Mutation_p.P263Q|PLCZ1_uc009zil.1_RNA	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	481	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AAGTGTAATTGGCATACCCTC	0.269		NA											4	38					1.24e-05	1.4e-05	1	0
MLL2	8085	broad.mit.edu	37	12	49443617	49443617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:49443617G>A	uc001rta.3	-	11	3754	c.3754C>T	c.(3754-3756)CGA>TGA	p.R1252*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1252					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						CCCTCATCTCGGGCTGGACTA	0.597		NA	N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			24	96					0	0	0	0
KRT71	112802	broad.mit.edu	37	12	52938396	52938396	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:52938396G>A	uc001sao.2	-	9	1562	c.1492C>T	c.(1492-1494)CGG>TGG	p.R498W		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	keratin 71	498	Tail.						structural molecule activity			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCACTGCCCCGGCTCCTGCCC	0.622		NA											32	105					0	0	0	0
RNF41	10193	broad.mit.edu	37	12	56604300	56604300	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:56604300G>A	uc001skf.1	-	4	512	c.143C>T	c.(142-144)TCT>TTT	p.S48F	RNF41_uc001ske.1_5'UTR|RNF41_uc001skg.1_Missense_Mutation_p.S48F|RNF41_uc010sqg.1_5'UTR|RNF41_uc010sqh.1_5'UTR|RNF41_uc001skh.2_Missense_Mutation_p.S61F	NM_005785	NP_005776	Q9H4P4	RNF41_HUMAN	ring finger protein 41 isoform 1	48	RING-type; degenerate.				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			skin(1)	1						CTGTTGCTGAGAGAACCACTG	0.532		NA											12	38					0	0	0	0
GPR182	11318	broad.mit.edu	37	12	57389441	57389441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:57389441G>A	uc001smk.2	+	2	542	c.448G>A	c.(448-450)GAC>AAC	p.D150N	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	150	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CCTCAGTGTCGACCGCTATGT	0.597		NA											12	71					0	0	0	0
NXPH4	11247	broad.mit.edu	37	12	57619422	57619422	+	Silent	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:57619422C>A	uc010srf.1	+	2	994	c.819C>A	c.(817-819)CCC>CCA	p.P273P	NXPH4_uc009zpj.2_Silent_p.P79P	NM_007224	NP_009155	O95158	NXPH4_HUMAN	neurexophilin 4 precursor	273	V (Cys-rich).				neuropeptide signaling pathway	extracellular region					0						GTGCCAAGCCCTTCAAAGTCA	0.577		NA											18	49					5.39e-06	6.13e-06	1	0
TMBIM4	51643	broad.mit.edu	37	12	66539718	66539718	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:66539718T>C	uc001stc.2	-	5	443	c.367A>G	c.(367-369)ATT>GTT	p.I123V	LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.I92V|TMBIM4_uc009zqr.2_Missense_Mutation_p.I170V|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_Missense_Mutation_p.I123V|TMBIM4_uc009zqs.2_Missense_Mutation_p.I123V	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	123	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(28;0.0745)		TGCAGAATAATATATACATCA	0.303		NA											10	41					0	0	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72020216	72020216	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:72020216C>A	uc001swo.2	-	22	4500	c.4141G>T	c.(4141-4143)GAA>TAA	p.E1381*		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	proline/serine-rich coiled-coil 2	1381	TPR 1.|HAT 1.				RNA processing	intracellular	metal ion binding			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						TCCAAGGATTCTGAGCACTCC	0.353		NA											16	54					4.75e-09	5.6e-09	1	0
NAV3	89795	broad.mit.edu	37	12	78400890	78400890	+	Silent	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:78400890C>G	uc001syp.2	+	8	1745	c.1572C>G	c.(1570-1572)TCC>TCG	p.S524S	NAV3_uc001syo.2_Silent_p.S524S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	524						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TTCCGTCTTCCAGTGGTATTC	0.448		NA								HNSCC(70;0.22)			13	69					0	0	0	0
ATP2B1	490	broad.mit.edu	37	12	90010659	90010659	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:90010659C>T	uc001tbh.2	-	11	2168	c.1987G>A	c.(1987-1989)GAG>AAG	p.E663K	ATP2B1_uc001tbg.2_Missense_Mutation_p.E663K|ATP2B1_uc001tbf.2_Missense_Mutation_p.E333K	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	663	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TTATCCCACTCTGGTTCTGGT	0.428		NA											22	131					0	0	0	0
C12orf51	283450	broad.mit.edu	37	12	112681213	112681213	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:112681213G>A	uc009zwc.2	-	25	3654	c.3636C>T	c.(3634-3636)GTC>GTT	p.V1212V		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TCACTCCCCCGACTCGTACGG	0.547		NA											5	13					0	0	0	0
UBC	7316	broad.mit.edu	37	12	125398024	125398024	+	Silent	SNP	G	G	A	rs1138413		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:125398024G>A	uc001ugs.3	-	2	742	c.294C>T	c.(292-294)ACC>ACT	p.T98T	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Silent_p.T98T|UBC_uc001ugt.2_Silent_p.T98T|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_5'UTR	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	98	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CGTTCTCGATGGTGTCACTGG	0.562		NA											8	202					0	0	0	0
DIS3	22894	broad.mit.edu	37	13	73350163	73350163	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr13:73350163A>C	uc001vix.3	-	5	1096	c.722T>G	c.(721-723)ATA>AGA	p.I241R	DIS3_uc001viy.3_Missense_Mutation_p.I211R|DIS3_uc001viz.2_RNA	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control isoform a	241					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)	1		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACCAGATTTTATGCCTTGCTG	0.358		NA								Multiple Myeloma(4;0.011)			10	28					0	0	0	0
RNASE12	493901	broad.mit.edu	37	14	21058750	21058750	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr14:21058750A>C	uc001vxt.2	-	1	233	c.133T>G	c.(133-135)TAC>GAC	p.Y45D	RNASE11_uc010ahv.2_5'Flank|RNASE11_uc010ahx.2_5'Flank|RNASE11_uc010ahw.2_5'Flank|RNASE11_uc001vxs.2_5'Flank|uc001vxu.1_RNA	NM_001024822	NP_001019993	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	45						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		TGGTTGCAGTACCTTGCAGGA	0.443		NA											17	61					0	0	0	0
CYFIP1	23191	broad.mit.edu	37	15	22990179	22990179	+	Silent	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:22990179G>C	uc001yus.2	+	24	2903	c.2799G>C	c.(2797-2799)CTG>CTC	p.L933L	CYFIP1_uc001yut.2_Silent_p.L933L|CYFIP1_uc010aya.1_Silent_p.L961L|CYFIP1_uc001yuu.2_Silent_p.L502L|CYFIP1_uc001yuv.2_Silent_p.L127L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	933					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGAGGAGCTGCTGAAGGTCG	0.582		NA											6	69					0	0	0	0
HERC2	8924	broad.mit.edu	37	15	28459109	28459109	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:28459109C>T	uc001zbj.2	-	42	6671	c.6565G>A	c.(6565-6567)GAG>AAG	p.E2189K		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	2189					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGTAGTCCTCTAACTGGGCC	0.572		NA											4	27					0	0	0	0
RYR3	6263	broad.mit.edu	37	15	34040341	34040341	+	Silent	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:34040341G>T	uc001zhi.2	+	54	8086	c.8016G>T	c.(8014-8016)GCG>GCT	p.A2672A	RYR3_uc010bar.2_Silent_p.A2672A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2672	3.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGGCCTGCGCGAGAGTCCC	0.522		NA											9	63					0.000442599	0.000484375	1	0
C15orf54	400360	broad.mit.edu	37	15	39544747	39544747	+	Silent	SNP	T	T	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:39544747T>G	uc001zkg.2	+	2	779	c.411T>G	c.(409-411)CGT>CGG	p.R137R		NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	hypothetical protein LOC400360	137											0		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		CAACAAAGCGTGTGTGCACTA	0.473		NA											14	101					0	0	0	0
ALPK3	57538	broad.mit.edu	37	15	85401044	85401044	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr15:85401044G>A	uc002ble.2	+	6	3848	c.3681G>A	c.(3679-3681)CAG>CAA	p.Q1227Q		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1227					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACCTGGTGCAGAGTGCACAGA	0.672		NA											13	35					0	0	0	0
ITGAD	3681	broad.mit.edu	37	16	31419085	31419085	+	Splice_Site	SNP	A	A	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr16:31419085A>T	uc002ebv.1	+	9	908	c.859_splice	c.e9-2	p.V287_splice	ITGAD_uc010vfl.1_Silent_p.A318A|ITGAD_uc010cap.1_Splice_Site_p.V287_splice|ITGAD_uc002ebw.1_Silent_p.A129A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	integrin, alpha D precursor						cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			skin(1)	1						TCTCTGCTGCAGGTGGGACAC	0.622		NA											8	31					0	0	0	0
NUP93	9688	broad.mit.edu	37	16	56865770	56865770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr16:56865770G>T	uc002eka.2	+	11	1223	c.1102G>T	c.(1102-1104)GAA>TAA	p.E368*	NUP93_uc002ekb.2_Nonsense_Mutation_p.E245*|NUP93_uc010vhi.1_Nonsense_Mutation_p.E245*	NM_014669	NP_055484	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	368					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(1)|lung(1)	2						CCCAGCTACGGAAAACAAGCT	0.493		NA											4	47					0.00909568	0.00956384	1	0
TP53	7157	broad.mit.edu	37	17	7579377	7579377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:7579377G>A	uc002gim.2	-	4	504	c.310C>T	c.(310-312)CAG>TAG	p.Q104*	TP53_uc002gig.1_Nonsense_Mutation_p.Q104*|TP53_uc002gih.2_Nonsense_Mutation_p.Q104*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.Q104*|TP53_uc010cni.1_Nonsense_Mutation_p.Q104*|TP53_uc002gij.2_Nonsense_Mutation_p.Q104*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.Q65*|TP53_uc010cnk.1_Nonsense_Mutation_p.Q119*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	104	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		Q -> H (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; 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.0?(7)|p.Q104*(5)|p.G59fs*23(3)|p.Q104fs*19(1)|p.V73fs*9(1)|p.Q104H(1)|p.Y103_Q104>**(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(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)		TAGCTGCCCTGGTAGGTTTTC	0.632		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)			18	57					0	0	0	0
MYH1	4619	broad.mit.edu	37	17	10399767	10399767	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:10399767C>A	uc002gmo.2	-	34	4850	c.4756G>T	c.(4756-4758)GAA>TAA	p.E1586*	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1586	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						TGGTCAATTTCCTCATCTTTT	0.453		NA											22	87					4.35e-09	5.14e-09	1	0
DHRS11	79154	broad.mit.edu	37	17	34954655	34954655	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:34954655G>A	uc002hnd.2	+	3	635	c.421G>A	c.(421-423)GTG>ATG	p.V141M		NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	short-chain dehydrogenase/reductase precursor	141						extracellular region	binding|oxidoreductase activity				0						GGAGCGGAATGTGGACGATGG	0.463		NA											12	87					0	0	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274157	39274157	+	Silent	SNP	G	G	A	rs145503152		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:39274157G>A	uc002hvz.2	-	1	450	c.411C>T	c.(409-411)CCC>CCT	p.P137P		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	137	23.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tgctgcagctggggtggcagc	0.109		NA											7	22					0	0	0	0
KRT37	8688	broad.mit.edu	37	17	39577792	39577792	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:39577792G>A	uc002hwp.1	-	6	1115	c.1068C>T	c.(1066-1068)GGC>GGT	p.G356G	uc002hwo.1_Intron	NM_003770	NP_003761	O76014	KRT37_HUMAN	keratin 37	356	Coil 2.|Rod.					intermediate filament	structural molecule activity			skin(1)	1		Breast(137;0.000496)				CCAGCTCTGTGCCGTAGCGGT	0.562		NA											22	39					0	0	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227248	43227248	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:43227248G>A	uc002iig.2	+	1	2565	c.691G>A	c.(691-693)GCC>ACC	p.A231T		NM_006460	NP_006451	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	231	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			ovary(1)	1						GCGGGCCGCCGCCAAATCCGA	0.622		NA											19	49					0	0	0	0
CDC27	996	broad.mit.edu	37	17	45235606	45235606	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:45235606G>A	uc002ild.3	-	5	568	c.441C>T	c.(439-441)TTC>TTT	p.F147F	CDC27_uc002ile.3_Silent_p.F147F|CDC27_uc002ilf.3_Silent_p.F147F|CDC27_uc010wkp.1_Silent_p.F86F|CDC27_uc010wkq.1_RNA	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	147	TPR 2.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|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 K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5						GAGACCAGAGGAAAGGATTTA	0.418		NA											6	54					0	0	0	0
CA10	56934	broad.mit.edu	37	17	49710870	49710870	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:49710870G>C	uc002itw.3	-	8	1917	c.931C>G	c.(931-933)CCA>GCA	p.P311A	CA10_uc002itu.3_Missense_Mutation_p.P240A|CA10_uc002itv.3_Missense_Mutation_p.P317A|CA10_uc002itx.3_Missense_Mutation_p.P311A|CA10_uc002ity.3_Missense_Mutation_p.P311A|CA10_uc002itz.2_Missense_Mutation_p.P311A	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	311					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CGGTTGTTTGGACAGTCCTTC	0.507		NA											16	53					0	0	0	0
SLC16A6	9120	broad.mit.edu	37	17	66268877	66268877	+	Silent	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:66268877A>G	uc002jgz.1	-	4	596	c.408T>C	c.(406-408)ACT>ACC	p.T136T	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jha.1_Silent_p.T136T	NM_004694	NP_004685	O15403	MOT7_HUMAN	solute carrier family 16, member 6	136	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity				0	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GGATGGTTACAGTTGGGAGAA	0.423		NA											10	61					0	0	0	0
GPR142	350383	broad.mit.edu	37	17	72368126	72368126	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr17:72368126C>A	uc010wqy.1	+	4	776	c.776C>A	c.(775-777)GCC>GAC	p.A259D	GPR142_uc010wqx.1_Missense_Mutation_p.A171D	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	259	Cytoplasmic (Potential).					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4						CGCTACACTGCCCTGTGCCAC	0.682		NA											4	31					0.00024832	0.000275269	1	0
ZNF562	54811	broad.mit.edu	37	19	9764328	9764328	+	Missense_Mutation	SNP	A	A	G	rs61743320		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:9764328A>G	uc010xks.1	-	6	741	c.578T>C	c.(577-579)GTG>GCG	p.V193A	ZNF562_uc002mly.2_Missense_Mutation_p.V193A|ZNF562_uc002mlx.2_Missense_Mutation_p.V121A|ZNF562_uc010xkt.1_Missense_Mutation_p.V156A|ZNF562_uc010xku.1_Missense_Mutation_p.V124A|ZNF562_uc010xkv.1_Missense_Mutation_p.V192A|ZNF562_uc010xkw.1_Missense_Mutation_p.V77A	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	193	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TTCAAGATGCACAGCAAGGCC	0.403		NA											8	65					0	0	0	0
CYP4F2	8529	broad.mit.edu	37	19	16006374	16006374	+	Silent	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:16006374G>T	uc002nbs.1	-	3	335	c.285C>A	c.(283-285)ATC>ATA	p.I95I	CYP4F2_uc010xot.1_5'UTR|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F,	95					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			ovary(1)|skin(1)	2						GGAGGGGGGAGATGGGTCCCA	0.592		NA											6	170					2.01e-06	2.31e-06	1	0
OR10H4	126541	broad.mit.edu	37	19	16060695	16060695	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:16060695G>A	uc010xov.1	+	1	878	c.878G>A	c.(877-879)AGC>AAC	p.S293N		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H,	293	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						ATCATTTTCAGCCTAAGGAAC	0.448		NA											44	95					0	0	0	0
ELL	8178	broad.mit.edu	37	19	18632829	18632829	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:18632829A>G	uc002njh.2	-	1	109	c.37T>C	c.(37-39)TCG>CCG	p.S13P	ELL_uc010ebq.2_5'UTR	NM_006532	NP_006523	P55199	ELL_HUMAN	elongation factor RNA polymerase II	13					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			lung(1)	1				GBM - Glioblastoma multiforme(1328;7.81e-07)		CGCCCGCACGACAGCCCGTAG	0.587		NA	T	MLL	AL								3	33					0	0	0	0
WDR62	284403	broad.mit.edu	37	19	36593683	36593683	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:36593683G>A	uc002odc.2	+	27	3341	c.3250G>A	c.(3250-3252)GAA>AAA	p.E1084K	WDR62_uc002odd.2_Missense_Mutation_p.E1089K	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1084					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCTGAAGCTGAAGACCACTT	0.617		NA											5	36					0	0	0	0
ZNF790	388536	broad.mit.edu	37	19	37310699	37310699	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:37310699A>G	uc002oew.2	-	5	666	c.547T>C	c.(547-549)TCA>CCA	p.S183P	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTATGATCTGAACCAGAAATA	0.348		NA											11	67					0	0	0	0
ZNF569	148266	broad.mit.edu	37	19	37904514	37904514	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:37904514G>T	uc002ogi.2	-	6	1604	c.1046C>A	c.(1045-1047)ACA>AAA	p.T349K	ZNF569_uc002ogh.2_Missense_Mutation_p.T190K|ZNF569_uc002ogj.2_Missense_Mutation_p.T373K	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTTCTCCTGTATGACTTCT	0.368		NA											11	107					0.000978159	0.00106505	1	0
LGALS4	3960	broad.mit.edu	37	19	39292682	39292682	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:39292682C>T	uc002ojg.2	-	9	989	c.775G>A	c.(775-777)GAG>AAG	p.E259K		NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	259	Galectin 2.|Beta-galactoside binding (By similarity).				cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCTTCTCCTCGGATCCCCAC	0.567		NA											15	77					0	0	0	0
DYRK1B	9149	broad.mit.edu	37	19	40318983	40318983	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:40318983G>T	uc002omj.2	-	6	1041	c.761C>A	c.(760-762)GCC>GAC	p.A254D	DYRK1B_uc002omi.2_Missense_Mutation_p.A254D|DYRK1B_uc002omk.2_Missense_Mutation_p.A254D	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	254	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AATCTTGATGGCGCTGCGCTT	0.622		NA											6	31					0.00307968	0.00330296	1	0
MEIS3	56917	broad.mit.edu	37	19	47909780	47909780	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:47909780G>A	uc002pgu.2	-	12	1529	c.1082C>T	c.(1081-1083)TCA>TTA	p.S361L	MEIS3_uc010xyp.1_RNA|MEIS3_uc002pgo.2_Intron|MEIS3_uc002pgp.2_Missense_Mutation_p.S193L|MEIS3_uc002pgq.2_Missense_Mutation_p.S442L|MEIS3_uc002pgr.2_Missense_Mutation_p.S229L|MEIS3_uc002pgt.2_Missense_Mutation_p.S344L|MEIS3_uc002pgv.2_Missense_Mutation_p.S390L|MEIS3_uc002pgs.2_Missense_Mutation_p.S407L|MEIS3_uc010eld.2_Missense_Mutation_p.S407L	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Meis1, myeloid ecotropic viral integration site	361						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CATCCCCACTGATCCTGGAAG	0.507		NA											12	94					0	0	0	0
KCNC3	3748	broad.mit.edu	37	19	50826961	50826961	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:50826961G>A	uc002pru.1	-	2	1544	c.1249C>T	c.(1249-1251)CGC>TGC	p.R417C	KCNC3_uc002prt.1_Missense_Mutation_p.R53C	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Shaw-related voltage-gated potassium channel	417	Helical; Voltage-sensor; Name=Segment S4; (Potential).				cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			pancreas(1)	1		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CGGACGAAGCGGACCACCCGC	0.657		NA											10	31					0	0	0	0
MBOAT7	79143	broad.mit.edu	37	19	54677887	54677887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:54677887G>A	uc002qdq.2	-	9	1536	c.1270C>T	c.(1270-1272)CGG>TGG	p.R424W	TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.R108W|MBOAT7_uc010yem.1_Missense_Mutation_p.R406W|MBOAT7_uc002qdr.2_Missense_Mutation_p.R424W|MBOAT7_uc002qds.2_Missense_Mutation_p.R351W|MBOAT7_uc010yen.1_Missense_Mutation_p.R351W	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain	424					phospholipid biosynthetic process	integral to membrane	acyltransferase activity				0	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGTACCGAAGGGTGTCG	0.647		NA											16	88					0	0	0	0
PEG3	5178	broad.mit.edu	37	19	57325822	57325822	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr19:57325822G>T	uc002qnu.2	-	7	4339	c.3988C>A	c.(3988-3990)CCA>ACA	p.P1330T	ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.P1301T|PEG3_uc002qnv.2_Missense_Mutation_p.P1330T|PEG3_uc002qnw.2_Missense_Mutation_p.P1206T|PEG3_uc002qnx.2_Missense_Mutation_p.P1204T|PEG3_uc010etr.2_Missense_Mutation_p.P1330T	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	1330					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATAGAATGGTATAGCTCCT	0.413		NA											16	46					7.05e-17	8.62e-17	1	0
APOB	338	broad.mit.edu	37	2	21233595	21233595	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:21233595G>A	uc002red.2	-	26	6273	c.6145C>T	c.(6145-6147)CCC>TCC	p.P2049S		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2049	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATTCTTGGGGCTTCTCAACG	0.373		NA											11	133					0	0	0	0
TMEM131	23505	broad.mit.edu	37	2	98411468	98411468	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:98411468A>C	uc002syh.3	-	29	3540	c.3311T>G	c.(3310-3312)TTA>TGA	p.L1104*		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1104	Helical; (Potential).					integral to membrane				ovary(4)|central_nervous_system(2)	6						ACAGGTTGCTAACATATGGTA	0.403		NA											11	22					0	0	0	0
CCDC138	165055	broad.mit.edu	37	2	109463283	109463283	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:109463283G>A	uc002ten.1	+	12	1473	c.1413G>A	c.(1411-1413)CAG>CAA	p.Q471Q	CCDC138_uc002teo.1_Silent_p.Q471Q|CCDC138_uc002tep.1_Silent_p.Q155Q|CCDC138_uc010fjm.1_Silent_p.Q155Q	NM_144978	NP_659415	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	471											0						ATTCTCCACAGCATTCTGTGG	0.363		NA											4	69					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179592514	179592514	+	Silent	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:179592514T>C	uc010zfg.1	-	65	16283	c.16059A>G	c.(16057-16059)CTA>CTG	p.L5353L	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.L2014L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6280							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)			GTGTTCCTTTTAGTATTGCCT	0.393		NA											16	157					0	0	0	0
TTLL4	9654	broad.mit.edu	37	2	219610493	219610493	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr2:219610493C>T	uc002viy.2	+	7	2236	c.1866C>T	c.(1864-1866)ACC>ACT	p.T622T	TTLL4_uc010zkl.1_Silent_p.T457T|TTLL4_uc010fvx.2_Silent_p.T622T|TTLL4_uc010zkm.1_5'Flank	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	622	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			ovary(2)|skin(1)	3		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		TCAAGCAGACCATTGGACGGT	0.512		NA											4	24					0	0	0	0
CHGB	1114	broad.mit.edu	37	20	5904039	5904039	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:5904039C>T	uc002wmg.2	+	4	1555	c.1249C>T	c.(1249-1251)CGC>TGC	p.R417C	CHGB_uc010zqz.1_Missense_Mutation_p.R100C	NM_001819	NP_001810	P05060	SCG1_HUMAN	chromogranin B precursor	417						extracellular region	hormone activity			breast(3)|skin(2)|ovary(1)	6						GGGAAAGGGACGCCATCACAG	0.532		NA											6	67					0	0	0	0
PCSK2	5126	broad.mit.edu	37	20	17462541	17462541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:17462541G>C	uc002wpm.2	+	12	2063	c.1743G>C	c.(1741-1743)AAG>AAC	p.K581N	PCSK2_uc002wpl.2_Missense_Mutation_p.K562N|PCSK2_uc010zrm.1_Missense_Mutation_p.K546N|PCSK2_uc002wpn.2_Missense_Mutation_p.K235N	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	581					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCGCAGAAGGGGGTGCTGA	0.617		NA											6	32					0	0	0	0
LBP	3929	broad.mit.edu	37	20	36975003	36975003	+	Silent	SNP	C	C	T	rs149360570		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:36975003C>T	uc002xic.1	+	1	119	c.84C>T	c.(82-84)CCC>CCT	p.P28P		NM_004139	NP_004130	P18428	LBP_HUMAN	lipopolysaccharide-binding protein precursor	28					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			ovary(1)|central_nervous_system(1)	2		Myeloproliferative disorder(115;0.00878)				GTGCCAACCCCGGCTTGGTCG	0.612		NA											7	47					0	0	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870578	51870578	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr20:51870578C>T	uc002xwo.2	+	2	1537	c.581C>T	c.(580-582)TCG>TTG	p.S194L		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	194					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			CTGTTCAGCTCGGTGCAGTTG	0.562		NA											8	40					0	0	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986075	31986075	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr21:31986075C>A	uc002yop.2	-	1	149	c.149G>T	c.(148-150)GGC>GTC	p.G50V	KRTAP20-1_uc011ade.1_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	50						cytosol|intermediate filament					0						GGAGCCATAGCCATAGCCACA	0.592		NA											19	111					5.04e-11	6.03e-11	1	0
CCT8L2	150160	broad.mit.edu	37	22	17071848	17071848	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr22:17071848C>A	uc002zlp.1	-	1	1853	c.1593G>T	c.(1591-1593)GAG>GAT	p.E531D		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	531					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GATTCCAGATCTCCTGATGTG	0.438		NA											31	108					4.42e-11	5.31e-11	1	0
TRIOBP	11078	broad.mit.edu	37	22	38165092	38165092	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr22:38165092G>A	uc003atr.2	+	20	6904	c.6633G>A	c.(6631-6633)CAG>CAA	p.Q2211Q	TRIOBP_uc003atu.2_Silent_p.Q2039Q|TRIOBP_uc003atw.2_Silent_p.Q498Q|TRIOBP_uc003atx.1_Silent_p.Q94Q|TRIOBP_uc010gxh.2_Silent_p.Q94Q	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	2211	Potential.				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)					AGTACTCGCAGAAGTGCCTGG	0.637		NA											16	52					0	0	0	0
FGD5	152273	broad.mit.edu	37	3	14965561	14965561	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:14965561G>A	uc003bzc.2	+	17	4094	c.3984G>A	c.(3982-3984)TCG>TCA	p.S1328S	FGD5_uc011avk.1_Silent_p.S1328S|FGD5_uc003bzd.2_Silent_p.S406S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1328					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5						CCCGCTTCTCGGGCAGTGCCT	0.572		NA											8	53					0	0	0	0
TRIM71	131405	broad.mit.edu	37	3	32931948	32931948	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:32931948G>A	uc003cff.2	+	4	1315	c.1252G>A	c.(1252-1254)GTG>ATG	p.V418M		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	tripartite motif-containing 71	418	Potential.				multicellular organismal development	cytoplasm	zinc ion binding			ovary(2)|large_intestine(1)	3						CATCAGTGCCGTGCAGCAGGT	0.597		NA											5	62					0	0	0	0
SCN10A	6336	broad.mit.edu	37	3	38739930	38739930	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:38739930C>T	uc003ciq.2	-	27	4781	c.4781G>A	c.(4780-4782)CGC>CAC	p.R1594H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	1594	IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGCAGTGTGCGGATCCCCTT	0.537		NA											8	90					0	0	0	0
HTR1F	3355	broad.mit.edu	37	3	88040986	88040986	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:88040986C>T	uc003dqr.2	+	2	1245	c.1087C>T	c.(1087-1089)CGA>TGA	p.R363*		NM_000866	NP_000857	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F	363	Cytoplasmic (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			ovary(3)	3	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAAGCTTGTGCGATGTCGATG	0.338		NA											13	53					0	0	0	0
IMPG2	50939	broad.mit.edu	37	3	100962722	100962722	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:100962722A>G	uc003duq.1	-	13	2656	c.2453T>C	c.(2452-2454)TTG>TCG	p.L818S	IMPG2_uc011bhe.1_Missense_Mutation_p.L681S	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	818	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						GGTTGGAGGCAATTTGGTAGA	0.448		NA											12	92					0	0	0	0
MYH15	22989	broad.mit.edu	37	3	108195321	108195321	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:108195321C>T	uc003dxa.1	-	13	1273	c.1216G>A	c.(1216-1218)GAG>AAG	p.E406K		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	406	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						TTTACCAACTCAGAGGAGTTA	0.393		NA											6	29					0	0	0	0
CASR	846	broad.mit.edu	37	3	121980531	121980531	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:121980531G>A	uc003eev.3	+	4	1021	c.649G>A	c.(649-651)GAC>AAC	p.D217N	CASR_uc003eew.3_Missense_Mutation_p.D217N	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor precursor	217	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGCTGATGACGACTATGGGCG	0.537		NA											10	127					0	0	0	0
OSBPL11	114885	broad.mit.edu	37	3	125282600	125282600	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:125282600C>G	uc003eic.2	-	7	1693	c.956G>C	c.(955-957)AGT>ACT	p.S319T		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	319					lipid transport		lipid binding			ovary(3)|breast(1)|kidney(1)	5						CACCGGCTTACTCTGATCAGT	0.413		NA											13	67					0	0	0	0
TOPBP1	11073	broad.mit.edu	37	3	133358856	133358856	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:133358856G>A	uc003eps.2	-	13	2312	c.2180C>T	c.(2179-2181)ACG>ATG	p.T727M		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	727	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7						TCTCTTTCCCGTTCTAGCAGT	0.363		NA						Other_conserved_DNA_damage_response_genes					10	42					0	0	0	0
ATR	545	broad.mit.edu	37	3	142274981	142274981	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:142274981T>C	uc003eux.3	-	10	2201	c.2079A>G	c.(2077-2079)ATA>ATG	p.I693M		NM_001184	NP_001175	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related protein	693					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						TGACTTTATCTCTGGGGAAAA	0.338		NA						Other_conserved_DNA_damage_response_genes					9	80					0	0	0	0
ZIC1	7545	broad.mit.edu	37	3	147128491	147128491	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:147128491G>A	uc003ewe.2	+	1	1311	c.592G>A	c.(592-594)GGG>AGG	p.G198R		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	198					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GCACGGCTACGGGCCCATGAA	0.652		NA											3	57					0	0	0	0
MME	4311	broad.mit.edu	37	3	154890356	154890356	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:154890356C>T	uc010hvr.1	+	22	2319	c.2108C>T	c.(2107-2109)GCG>GTG	p.A703V	MME_uc003fab.1_Missense_Mutation_p.A703V|MME_uc003fac.1_Missense_Mutation_p.A703V|MME_uc003fad.1_Missense_Mutation_p.A703V|MME_uc003fae.1_Missense_Mutation_p.A703V	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	703	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CCAGAGTATGCGGTTAACTCC	0.428		NA											13	128					0	0	0	0
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:178936082G>A	uc003fjk.2	+	10	1781	c.1624G>A	c.(1624-1626)GAA>AAA	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	542	PI3K helical.		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			26	47					0	0	0	0
C3orf59	151963	broad.mit.edu	37	3	192516360	192516360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr3:192516360G>A	uc011bsp.1	-	2	1612	c.1291C>T	c.(1291-1293)CGA>TGA	p.R431*		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	431											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)		GTGCTACCTCGCCTCTGGAGC	0.607		NA											9	119					0	0	0	0
NOP14	8602	broad.mit.edu	37	4	2954030	2954030	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:2954030T>C	uc003ggj.1	-	6	914	c.842A>G	c.(841-843)GAA>GGA	p.E281G	C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.E27G|NOP14_uc003ggk.3_Missense_Mutation_p.E281G|NOP14_uc003ggl.2_Missense_Mutation_p.E281G|NOP14_uc010icq.1_RNA	NM_003703	NP_003694	P78316	NOP14_HUMAN	probable nucleolar complex protein 14	281					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1						CTCCTGCTCTTCCTTTGCCAA	0.567		NA											17	48					0	0	0	0
PCDH7	5099	broad.mit.edu	37	4	30723146	30723146	+	Silent	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:30723146C>G	uc003gsk.1	+	1	1110	c.102C>G	c.(100-102)CTC>CTG	p.L34L	PCDH7_uc011bxw.1_Silent_p.L34L|PCDH7_uc011bxx.1_Silent_p.L34L	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	34	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						AGCAGCTCCTCCGGTACCGGC	0.711		NA											8	13					0	0	0	0
GC	2638	broad.mit.edu	37	4	72620734	72620734	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:72620734G>A	uc003hge.2	-	9	1278	c.1125C>T	c.(1123-1125)TGC>TGT	p.C375C	GC_uc003hgd.2_Silent_p.C253C|GC_uc010iie.2_Silent_p.C375C|GC_uc010iif.2_Silent_p.C394C	NM_000583	NP_000574	P02774	VTDB_HUMAN	vitamin D-binding protein precursor	375	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	CAACATCACAGCATTCACCAA	0.338		NA											11	48					0	0	0	0
F11	2160	broad.mit.edu	37	4	187208888	187208888	+	Nonsense_Mutation	SNP	G	G	T	rs142952627		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:187208888G>T	uc003iza.1	+	14	1960	c.1627G>T	c.(1627-1629)GAA>TAA	p.E543*	uc003izb.1_Intron	NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	543	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	AGTGACCAACGAAGAGTGCCA	0.383		NA											8	68					0.000157383	0.000174916	1	0
LRRC14B	389257	broad.mit.edu	37	5	195405	195405	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:195405C>T	uc003jal.1	+	2	1510	c.1482C>T	c.(1480-1482)TTC>TTT	p.F494F		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	494										skin(1)	1						TTGGTGCTTTCTTGCTGCAAG	0.473		NA											17	46					0	0	0	0
C5orf22	55322	broad.mit.edu	37	5	31532542	31532542	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:31532542C>G	uc003jhj.3	+	1	170	c.43C>G	c.(43-45)CCC>GCC	p.P15A	RNASEN_uc003jhh.2_5'Flank|RNASEN_uc003jhg.2_5'Flank|RNASEN_uc003jhi.2_5'Flank|C5orf22_uc011cnw.1_RNA|C5orf22_uc003jhk.3_5'UTR	NM_018356	NP_060826	Q49AR2	CE022_HUMAN	hypothetical protein LOC55322	15										ovary(2)	2						CCGGCGTTACCCCAAGCTCCC	0.632		NA											7	52					0	0	0	0
MAP1B	4131	broad.mit.edu	37	5	71494067	71494067	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:71494067G>T	uc003kbw.3	+	5	5126	c.4885G>T	c.(4885-4887)GCA>TCA	p.A1629S	MAP1B_uc010iyw.1_Missense_Mutation_p.A1646S|MAP1B_uc010iyx.1_Missense_Mutation_p.A1503S|MAP1B_uc010iyy.1_Missense_Mutation_p.A1503S	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1629						microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCCTAAAACTGCAAAGTCCAG	0.443		NA											7	102					0.00307968	0.00330296	1	0
IQGAP2	10788	broad.mit.edu	37	5	75906864	75906864	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:75906864C>T	uc003kek.2	+	13	1599	c.1377C>T	c.(1375-1377)TAC>TAT	p.Y459Y	IQGAP2_uc010izv.2_Silent_p.Y12Y|IQGAP2_uc011csv.1_Silent_p.Y12Y|IQGAP2_uc003kel.2_Silent_p.Y12Y	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	459					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CTGTAGGGTACATCAATGAAG	0.393		NA											8	57					0	0	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139921779	139921779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:139921779C>T	uc003lfs.1	+	34	7716	c.7592C>T	c.(7591-7593)CCT>CTT	p.P2531L	ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P1287L|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.P676L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	2531						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCAGTCCCTGCTCTCAAA	0.453		NA											7	42					0	0	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256490	140256490	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:140256490C>T	uc003lic.2	+	1	1560	c.1433C>T	c.(1432-1434)TCG>TTG	p.S478L	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_uc011daf.1_Missense_Mutation_p.S478L	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	478	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCACGGTGTCGGCATGGGAC	0.657		NA											10	86					0	0	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745472	140745472	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:140745472G>C	uc003lju.1	+	1	1575	c.1575G>C	c.(1573-1575)TTG>TTC	p.L525F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.L525F	NM_018918	NP_061741	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5 isoform 1	525	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGCAGTTGAGAGACCTAC	0.527		NA											19	146					0	0	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768196	140768196	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:140768196G>T	uc003lkc.1	+	1	745	c.745G>T	c.(745-747)GTG>TTG	p.V249L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.V249L	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4 isoform 1	249	Cadherin 3.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTATACAGGGTGAGCCTTTC	0.517		NA											22	137					6.21e-17	7.62e-17	1	0
ODZ2	57451	broad.mit.edu	37	5	167645811	167645811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr5:167645811C>T	uc010jjd.2	+	23	4888	c.4888C>T	c.(4888-4890)CGT>TGT	p.R1630C	ODZ2_uc003lzr.3_Missense_Mutation_p.R1400C|ODZ2_uc003lzt.3_Missense_Mutation_p.R1003C|ODZ2_uc010jje.2_Missense_Mutation_p.R894C	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCTGAAGATCCGTCGGGACAG	0.507		NA											18	93					0	0	0	0
HIST1H3G	8355	broad.mit.edu	37	6	26271479	26271479	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:26271479C>A	uc003nhi.2	-	1	134	c.134G>T	c.(133-135)GGC>GTC	p.G45V	uc003nhj.2_5'Flank|HIST1H2BI_uc003nhk.2_5'Flank	NM_003534	NP_003525	P68431	H31_HUMAN	H3 histone family, member H	45					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0						AGCCACGGTGCCGGGACGGTA	0.642		NA											9	80					0.00010058	0.000112367	1	0
BTN2A2	10385	broad.mit.edu	37	6	26392973	26392973	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:26392973G>A	uc003nhq.2	+	8	1436	c.1350G>A	c.(1348-1350)CTG>CTA	p.L450L	BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Silent_p.L334L|BTN2A2_uc011dkh.1_Silent_p.L240L|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Silent_p.L450L|BTN2A2_uc011dki.1_3'UTR	NM_006995	NP_008926	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2 isoform a	450	B30.2/SPRY.|Cytoplasmic (Potential).				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane					0						GCGTCTTCCTGGACTATGAAG	0.547		NA											10	101					0	0	0	0
BAI3	577	broad.mit.edu	37	6	70071087	70071087	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:70071087T>C	uc003pev.3	+	29	4370	c.3922T>C	c.(3922-3924)TAT>CAT	p.Y1308H	BAI3_uc010kak.2_Missense_Mutation_p.Y1308H|BAI3_uc011dxx.1_Missense_Mutation_p.Y514H	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1308	Cytoplasmic (Potential).				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)				GGAAAGTGACTATATTGTGAT	0.398		NA											6	50					0	0	0	0
DOPEY1	23033	broad.mit.edu	37	6	83834483	83834483	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:83834483T>A	uc003pjs.1	+	13	1660	c.1400T>A	c.(1399-1401)TTA>TAA	p.L467*	DOPEY1_uc011dyy.1_Nonsense_Mutation_p.L458*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.L458*	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	467					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCATCTGAATTACAGCTGACC	0.368		NA											13	164					0	0	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938023	116938023	+	Silent	SNP	A	A	G	rs145831200		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:116938023A>G	uc003pxe.2	+	1	382	c.237A>G	c.(235-237)ACA>ACG	p.T79T	RSPH4A_uc010kee.2_Silent_p.T79T	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A isoform 1	79					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke					0						GACCAGAAACATCATCACCTG	0.657		NA							Kartagener_syndrome				13	57					0	0	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762772	130762772	+	Missense_Mutation	SNP	G	G	C	rs148429620		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:130762772G>C	uc003qca.2	+	3	2076	c.1205G>C	c.(1204-1206)CGG>CCG	p.R402P	TMEM200A_uc010kfh.2_Missense_Mutation_p.R402P|TMEM200A_uc010kfi.2_Missense_Mutation_p.R402P|TMEM200A_uc003qcb.2_Missense_Mutation_p.R402P	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	transmembrane protein 200A	402	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GACTTAGACCGGGGTCCCTCC	0.502		NA											7	82					0	0	0	0
SYNE1	23345	broad.mit.edu	37	6	152631904	152631904	+	Silent	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:152631904T>C	uc010kiw.2	-	88	17417	c.16815A>G	c.(16813-16815)CAA>CAG	p.Q5605Q	SYNE1_uc010kiv.2_Silent_p.Q129Q|SYNE1_uc003qos.3_Silent_p.Q129Q|SYNE1_uc003qot.3_Silent_p.Q5534Q|SYNE1_uc003qou.3_Silent_p.Q5605Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5605	Spectrin 17.|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)		GTTCTGCCACTTGCTGAGACA	0.408		NA								HNSCC(10;0.0054)			15	20					0	0	0	0
UNC93A	54346	broad.mit.edu	37	6	167708122	167708122	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr6:167708122G>T	uc003qvq.2	+	2	380	c.205G>T	c.(205-207)GGG>TGG	p.G69W	UNC93A_uc003qvr.2_Missense_Mutation_p.G69W	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	69	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGCTGCAAGGGGACCATCAT	0.652		NA											14	190					6.72e-11	8.04e-11	1	0
NPTX2	4885	broad.mit.edu	37	7	98256574	98256574	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr7:98256574G>A	uc003upl.2	+	4	1163	c.986G>A	c.(985-987)GGA>GAA	p.G329E		NM_002523	NP_002514	P47972	NPTX2_HUMAN	neuronal pentraxin II precursor	329	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			central_nervous_system(2)|skin(1)	3	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCAGGACGGAGAGAAGCTG	0.642		NA											15	44					0	0	0	0
SLC13A1	6561	broad.mit.edu	37	7	122787224	122787224	+	Silent	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr7:122787224C>T	uc003vkm.2	-	7	826	c.801G>A	c.(799-801)GAG>GAA	p.E267E	SLC13A1_uc010lks.2_Silent_p.E143E	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	267						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)	TATTGAAATACTCTGCAAAGA	0.368		NA											4	25					0	0	0	0
COPG2	26958	broad.mit.edu	37	7	130148414	130148414	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr7:130148414C>T	uc003vqh.1	-	11	2326	c.2236G>A	c.(2236-2238)GAT>AAT	p.D746N		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	coatomer protein complex, subunit gamma 2	746					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity				0	Melanoma(18;0.0435)					ACATACTCATCATCATACCCA	0.473		NA											3	20					0	0	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766752	77766752	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr8:77766752C>G	uc003yav.2	+	10	7847	c.7460C>G	c.(7459-7461)CCC>CGC	p.P2487R	ZFHX4_uc003yau.1_Missense_Mutation_p.P2532R|ZFHX4_uc003yaw.1_Missense_Mutation_p.P2487R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2487						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)			TTGGAAAGGCCCATGGACATG	0.527		NA								HNSCC(33;0.089)			12	98					0	0	0	0
LRP12	29967	broad.mit.edu	37	8	105521200	105521200	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr8:105521200A>G	uc003yma.2	-	3	334	c.239T>C	c.(238-240)ATA>ACA	p.I80T	LRP12_uc003ymb.2_Missense_Mutation_p.I61T|LRP12_uc003ymc.3_Missense_Mutation_p.I61T	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	low density lipoprotein-related protein 12	80	Extracellular (Potential).|CUB 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding				0			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTTGCCCTTATGAACCAGCT	0.368		NA											7	82					0	0	0	0
KLHL9	55958	broad.mit.edu	37	9	21333736	21333736	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:21333736G>A	uc003zoy.2	-	1	1694	c.1123C>T	c.(1123-1125)CGG>TGG	p.R375W	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	375	Kelch 2.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTATTATACCGAGGATCAAAT	0.383		NA											29	65					0	0	0	0
C9orf79	286234	broad.mit.edu	37	9	90500809	90500809	+	Silent	SNP	A	A	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:90500809A>C	uc004app.3	+	4	1442	c.1407A>C	c.(1405-1407)GTA>GTC	p.V469V	C9orf79_uc004apo.1_Silent_p.V281V	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	469						integral to membrane				ovary(3)	3						CACACTCTGTACCACTGGATA	0.443		NA											21	205					0	0	0	0
FBP2	8789	broad.mit.edu	37	9	97346868	97346868	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:97346868G>C	uc004auv.2	-	3	484	c.417C>G	c.(415-417)ATC>ATG	p.I139M		NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	139					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				CCTTTCTATAGATGGCAAAGA	0.423		NA											6	39					0	0	0	0
ASTN2	23245	broad.mit.edu	37	9	119770538	119770538	+	Missense_Mutation	SNP	C	C	T	rs139435569		TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:119770538C>T	uc004bjs.1	-	7	1525	c.1424G>A	c.(1423-1425)GGA>GAA	p.G475E	ASTN2_uc004bjr.1_Missense_Mutation_p.G475E|ASTN2_uc004bjt.1_Missense_Mutation_p.G424E	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	475	Extracellular (Potential).					integral to membrane		p.G424E(1)		skin(4)|ovary(3)|breast(1)|kidney(1)	9						GAAGCTGCTTCCTATGGGTGA	0.498		NA											8	46					0	0	0	0
ASTN2	23245	broad.mit.edu	37	9	119976991	119976991	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:119976991G>C	uc004bjs.1	-	3	762	c.661C>G	c.(661-663)CTG>GTG	p.L221V	ASTN2_uc004bjr.1_Missense_Mutation_p.L221V|ASTN2_uc004bjt.1_Missense_Mutation_p.L221V	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	221	Helical; (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						GTGAACACCAGCAGCAGCAGC	0.602		NA											3	45					0	0	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123201903	123201903	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:123201903C>T	uc004bkf.2	-	24	3677	c.3496G>A	c.(3496-3498)GGG>AGG	p.G1166R	CDK5RAP2_uc010mvi.2_Missense_Mutation_p.G175R|CDK5RAP2_uc004bke.2_Missense_Mutation_p.G451R|CDK5RAP2_uc004bkg.2_Missense_Mutation_p.G1166R|CDK5RAP2_uc011lxw.1_Missense_Mutation_p.G431R|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_Missense_Mutation_p.G431R|CDK5RAP2_uc011lya.1_Missense_Mutation_p.G431R|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.G936R|CDK5RAP2_uc004bki.2_Missense_Mutation_p.G933R	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1166	Interaction with MAPRE1.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						ATTTCTTCCCCATCAGAACCA	0.512		NA									OREG0019438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	42					0	0	0	0
OR1L4	254973	broad.mit.edu	37	9	125486388	125486388	+	Silent	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr9:125486388G>A	uc004bmu.1	+	1	120	c.120G>A	c.(118-120)GCG>GCA	p.A40A		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TACTCACTGCGGTGGGGAATG	0.517		NA											15	145					0	0	0	0
REPS2	9185	broad.mit.edu	37	X	17072947	17072947	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:17072947G>C	uc004cxv.1	+	8	1159	c.988G>C	c.(988-990)GAC>CAC	p.D330H	REPS2_uc004cxw.1_Missense_Mutation_p.D329H|REPS2_uc011miw.1_Missense_Mutation_p.D189H	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	330	EH 2.|EF-hand.|Potential.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)					TAGTGATGCTGACTGTGATGG	0.512		NA											8	83					0	0	0	0
GPR64	10149	broad.mit.edu	37	X	19039220	19039220	+	Splice_Site	SNP	A	A	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:19039220A>G	uc004cyx.2	-	14	807	c.643_splice	c.e14+1	p.E215_splice	GPR64_uc004cyy.2_Splice_Site_p.E212_splice|GPR64_uc004cyz.2_Splice_Site_p.E201_splice|GPR64_uc004czb.2_Splice_Site_p.E215_splice|GPR64_uc004czc.2_Splice_Site_p.E199_splice|GPR64_uc004czd.2_Splice_Site_p.E191_splice|GPR64_uc004cze.2_Splice_Site_p.E185_splice|GPR64_uc004czf.2_Splice_Site_p.E177_splice|GPR64_uc004cza.2_Splice_Site_p.E193_splice|GPR64_uc004cyw.2_Splice_Site_p.E199_splice|GPR64_uc010nfj.2_Splice_Site_p.E185_splice	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1						neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)					TAGACAACTTACCCATTGGTC	0.284		NA											4	68					0	0	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998267	27998267	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:27998267G>C	uc004dbx.1	-	1	1300	c.1185C>G	c.(1183-1185)TGC>TGG	p.C395W		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	395	WD 5.									ovary(3)|skin(1)	4						TGTACACAACGCAGGTGATGT	0.418		NA											24	81					0	0	0	0
WDR13	64743	broad.mit.edu	37	X	48457988	48457988	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:48457988G>A	uc004dkh.1	+	5	553	c.406G>A	c.(406-408)GTG>ATG	p.V136M	WDR13_uc010nif.1_Missense_Mutation_p.V14M|WDR13_uc004dki.1_Missense_Mutation_p.V44M|WDR13_uc004dkj.1_Missense_Mutation_p.V136M|WDR13_uc004dkk.1_Missense_Mutation_p.V44M|WDR13_uc004dkl.3_Missense_Mutation_p.V44M|WDR13_uc011mme.1_Missense_Mutation_p.V14M	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13 protein	136						cytoplasm|nucleus				ovary(2)	2						CCCTGGCAGCGTGGTGCCCAC	0.617		NA											15	98					0	0	0	0
GSPT2	23708	broad.mit.edu	37	X	51486870	51486870	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:51486870C>T	uc004dpl.2	+	1	374	c.148C>T	c.(148-150)CGT>TGT	p.R50C		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	peptide chain release factor 3	50					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)	1	Ovarian(276;0.236)					GGCTTTCAGCCGTAAGCTCAA	0.697		NA											10	38					0	0	0	0
FGD1	2245	broad.mit.edu	37	X	54492144	54492144	+	Silent	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:54492144G>T	uc004dtg.2	-	7	2216	c.1482C>A	c.(1480-1482)ATC>ATA	p.I494I	FGD1_uc011moi.1_Silent_p.I252I	NM_004463	NP_004454	P98174	FGD1_HUMAN	faciogenital dysplasia protein	494	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|skin(2)|central_nervous_system(1)	6						CCTCATGGATGATGACTTTAA	0.562		NA											6	71					5.94e-07	6.85e-07	1	0
MED12	9968	broad.mit.edu	37	X	70347860	70347860	+	Silent	SNP	C	C	G			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:70347860C>G	uc004dyy.2	+	22	3298	c.3099C>G	c.(3097-3099)ACC>ACG	p.T1033T	MED12_uc011mpq.1_Silent_p.T1033T|MED12_uc004dyz.2_Silent_p.T1033T|MED12_uc004dza.2_Silent_p.T880T|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1033					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CAGCTCACACCTTCACCTACA	0.527		NA											7	68					0	0	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090649	91090649	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:91090649T>C	uc004efk.1	+	1	991	c.146T>C	c.(145-147)TTG>TCG	p.L49S	PCDH11X_uc004efl.1_Missense_Mutation_p.L49S|PCDH11X_uc004efo.1_Missense_Mutation_p.L49S|PCDH11X_uc010nmv.1_Missense_Mutation_p.L49S|PCDH11X_uc004efm.1_Missense_Mutation_p.L49S|PCDH11X_uc004efn.1_Missense_Mutation_p.L49S|PCDH11X_uc004efh.1_Missense_Mutation_p.L49S|PCDH11X_uc004efj.1_Missense_Mutation_p.L49S	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	49	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						GACCTTAACTTGTCGCTGATT	0.473		NA											11	88					0	0	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090730	91090730	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:91090730G>A	uc004efk.1	+	1	1072	c.227G>A	c.(226-228)CGA>CAA	p.R76Q	PCDH11X_uc004efl.1_Missense_Mutation_p.R76Q|PCDH11X_uc004efo.1_Missense_Mutation_p.R76Q|PCDH11X_uc010nmv.1_Missense_Mutation_p.R76Q|PCDH11X_uc004efm.1_Missense_Mutation_p.R76Q|PCDH11X_uc004efn.1_Missense_Mutation_p.R76Q|PCDH11X_uc004efh.1_Missense_Mutation_p.R76Q|PCDH11X_uc004efj.1_Missense_Mutation_p.R76Q	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	76	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						CCACTGATTCGAATTGAAGAG	0.438		NA											21	141					0	0	0	0
CENPI	2491	broad.mit.edu	37	X	100403043	100403043	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:100403043A>T	uc004egx.2	+	19	2257	c.1987A>T	c.(1987-1989)ATT>TTT	p.I663F	CENPI_uc011mrg.1_Missense_Mutation_p.I663F	NM_006733	NP_006724	Q92674	CENPI_HUMAN	centromere protein I	663					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			skin(1)	1						AGGAATATATATTGACCCTGA	0.363		NA											16	178					0	0	0	0
DOCK11	139818	broad.mit.edu	37	X	117815169	117815169	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:117815169G>C	uc004eqp.2	+	50	5883	c.5820G>C	c.(5818-5820)ATG>ATC	p.M1940I	DOCK11_uc004eqq.2_Missense_Mutation_p.M1719I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1940	DHR-2.				blood coagulation	cytosol	GTP binding			ovary(3)	3						ACGTGGACATGATTCAGCTCC	0.373		NA											29	86					0	0	0	0
CUL4B	8450	broad.mit.edu	37	X	119672528	119672528	+	Silent	SNP	G	G	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:119672528G>T	uc004esw.2	-	15	2330	c.1893C>A	c.(1891-1893)TCC>TCA	p.S631S	CUL4B_uc010nqq.2_Silent_p.S330S|CUL4B_uc004esv.2_Silent_p.S613S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	631					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3						GTTTAAGTTTGGACAGCATTG	0.383		NA											25	103					7.26e-15	8.83e-15	1	0
THOC2	57187	broad.mit.edu	37	X	122837338	122837338	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:122837338C>T	uc004etu.2	-	4	272	c.240G>A	c.(238-240)ATG>ATA	p.M80I	THOC2_uc011muh.1_Missense_Mutation_p.M1I|THOC2_uc011mui.1_5'UTR	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	THO complex 2	80					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			ovary(3)	3						GAATGGAGGGCATATCCTCAC	0.303		NA											5	80					0	0	0	0
HMGB3	3149	broad.mit.edu	37	X	150156302	150156302	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:150156302C>T	uc004fep.2	+	5	610	c.518C>T	c.(517-519)GCT>GTT	p.A173V	HMGB3_uc004feq.2_3'UTR|HMGB3_uc004fer.2_Missense_Mutation_p.A173V	NM_005342	NP_005333	O15347	HMGB3_HUMAN	high-mobility group box 3	173					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding				0	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTCCTGCTAAAGTTGCC	0.279		NA											5	84					0	0	0	0
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr12:122812690_122812691insT	uc001ucg.1	-	16	3158_3159	c.3052_3053insA	c.(3052-3054)AGCfs	p.S1018fs	CLIP1_uc001uch.1_Frame_Shift_Ins_p.S1007fs|CLIP1_uc001uci.1_Frame_Shift_Ins_p.S972fs|CLIP1_uc001ucj.1_Frame_Shift_Ins_p.S593fs	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	1018	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505		NA											7	201	---	---	---	---	NA	NA	NA	NA
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr13:25671273delG	uc001upy.2	+	1	998	c.937delG	c.(937-939)GCGfs	p.A313fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			ovary(3)|skin(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408		NA											13	235	---	---	---	---	NA	NA	NA	NA
DICER1	23405	broad.mit.edu	37	14	95562901	95562901	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr14:95562901delA	uc001ydw.2	-	24	4538	c.4356delT	c.(4354-4356)TTTfs	p.F1452fs	DICER1_uc010avh.1_Frame_Shift_Del_p.F350fs|DICER1_uc001ydv.2_Frame_Shift_Del_p.F1442fs|DICER1_uc001ydx.2_Frame_Shift_Del_p.F1452fs|DICER1_uc001ydy.1_Frame_Shift_Del_p.F304fs	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1452					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TATTATCTATAAATCTGATAT	0.353		NA	Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				11	67	---	---	---	---	NA	NA	NA	NA
FAT1	2195	broad.mit.edu	37	4	187540153	187540154	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chr4:187540153_187540154insT	uc003izf.2	-	10	7774_7775	c.7586_7587insA	c.(7585-7587)TACfs	p.Y2529fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2529	Extracellular (Potential).|Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						TTACAATATGGTAAGTAACGTG	0.411		NA								HNSCC(5;0.00058)			41	100	---	---	---	---	NA	NA	NA	NA
FANCB	2187	broad.mit.edu	37	X	14871234	14871235	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7422-01A-21D-2078-08	TCGA-CV-7422-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5eb3f291-082c-48a8-b653-09264342adee	f3de3c44-abb1-4a38-945c-cbdd7dd132a5	g.chrX:14871234_14871235insT	uc004cwg.1	-	6	1520_1521	c.1252_1253insA	c.(1252-1254)ATTfs	p.I418fs	FANCB_uc004cwh.1_Frame_Shift_Ins_p.I418fs	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	418					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)					TTTTGAAATAATTTTTTCCTTA	0.312		NA						Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				9	82	---	---	---	---	NA	NA	NA	NA