Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	ACHILLES_Top_Genes	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KLHL17	339451	broad.mit.edu	37	1	898548	898548	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:898548C>T	uc001aca.1	+	7	1209	c.1102C>T	c.(1102-1104)CGC>TGC	p.R368C	KLHL17_uc001acc.1_RNA|KLHL17_uc010nyb.1_Silent_p.T116T	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	kelch-like 17	368	Interaction with F-actin (By similarity).|Kelch 1.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGCACCGACCGCTGGCACGT	0.701			NA											8	15					0	0	0.004482	0	0
CNKSR1	10256	broad.mit.edu	37	1	26515397	26515397	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:26515397C>T	uc001bln.3	+	20	1904	c.1846C>T	c.(1846-1848)CTC>TTC	p.L616F	CNKSR1_uc001blm.3_Missense_Mutation_p.L609F|CNKSR1_uc009vsd.2_Missense_Mutation_p.L351F|CNKSR1_uc009vse.2_Missense_Mutation_p.L351F|CNKSR1_uc001blo.2_Missense_Mutation_p.L351F|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras	616	Potential.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCCTCAGCTCAATGAGCG	0.657	NSCLC(180;1396 2109 28270 30756 34275)		NA											30	44					0	0	0.008361	0	0
EIF2C3	192669	broad.mit.edu	37	1	36492838	36492838	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:36492838G>C	uc001bzp.2	+	12	1786	c.1530G>C	c.(1528-1530)AAG>AAC	p.K510N	EIF2C3_uc001bzq.2_Missense_Mutation_p.K276N	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	510					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCATCTCAAGAACACATATT	0.488	Colon(144;60 2363 31043 40539)		NA											5	59					0	0	0.000602	0	0
USP1	7398	broad.mit.edu	37	1	62916294	62916294	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:62916294G>C	uc001daj.1	+	9	2328	c.2000G>C	c.(1999-2001)GGA>GCA	p.G667A	USP1_uc001dak.1_Missense_Mutation_p.G667A|USP1_uc001dal.1_Missense_Mutation_p.G667A	NM_001017415	NP_001017415	O94782	UBP1_HUMAN	ubiquitin specific protease 1	667					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)	1		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GAAGCTATTGGACTTCTTGGA	0.358	Ovarian(122;1846 2315 3982 19504)		NA											27	40					0	0	0.003954	0	0
REG4	83998	broad.mit.edu	37	1	120342457	120342457	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:120342457G>C	uc001eig.2	-	5	634	c.194C>G	c.(193-195)GCC>GGC	p.A65G	REG4_uc001eif.2_Missense_Mutation_p.A65G	NM_001159352	NP_001152824	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	65	C-type lectin.					extracellular region	sugar binding			ovary(1)	1	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TGCCAGGTGGGCTCCGTTTCC	0.507			NA											12	173					0	0	0.001368	0	0
NBPF9	400818	broad.mit.edu	37	1	144828683	144828683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:144828683C>T	uc009wig.1	+	23	2804	c.2728C>T	c.(2728-2730)CAG>TAG	p.Q910*	NBPF9_uc010oxn.1_Nonsense_Mutation_p.Q808*|NBPF9_uc010oxo.1_Nonsense_Mutation_p.Q835*|NBPF9_uc010oxr.1_Nonsense_Mutation_p.Q937*|NBPF9_uc010oxt.1_Nonsense_Mutation_p.Q725*|NBPF9_uc001ekg.1_Nonsense_Mutation_p.Q237*|NBPF9_uc001ekk.1_Nonsense_Mutation_p.Q481*|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Nonsense_Mutation_p.Q237*|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Nonsense_Mutation_p.Q570*|uc001elr.3_5'Flank	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN	hypothetical protein LOC400818	910	NBPF 7.					cytoplasm					0						ATTTGAGGAACAGCACATCAG	0.438			NA											14	392					0	0	0.008871	0	0
IVL	3713	broad.mit.edu	37	1	152883939	152883939	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:152883939C>A	uc001fau.2	+	2	1712	c.1666C>A	c.(1666-1668)CAA>AAA	p.Q556K		NM_005547	NP_005538	P07476	INVO_HUMAN	involucrin	556					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			ovary(3)	3	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAGACATTCAACCAGCCCT	0.388			NA											52	34					6.32628e-17	9.9996e-17	0.00361	1	0
PGLYRP3	114771	broad.mit.edu	37	1	153270572	153270572	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:153270572C>A	uc001fbn.1	-	7	939	c.886G>T	c.(886-888)GAC>TAC	p.D296Y		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3 precursor	296					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGATCAGGTCCTGGGCCGCC	0.547			NA											240	204					1.44279e-96	2.74019e-96	0.00361	1	0
SPTA1	6708	broad.mit.edu	37	1	158623215	158623215	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:158623215C>A	uc001fst.1	-	22	3236	c.3037G>T	c.(3037-3039)GAC>TAC	p.D1013Y		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1013	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)					TTCCACCAGTCCTGAAGGGAG	0.532			NA											46	16					1.48646e-12	2.19387e-12	0.010771	1	0
OR6N1	128372	broad.mit.edu	37	1	158736189	158736189	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:158736189G>A	uc010piq.1	-	1	284	c.284C>T	c.(283-285)TCT>TTT	p.S95F		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	95	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					GAGACACCCAGAGAATGAAAT	0.483			NA											6	75					0	0	0.001984	0	0
FCRLA	84824	broad.mit.edu	37	1	161683078	161683078	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:161683078G>T	uc001gbe.2	+	6	1299	c.1057G>T	c.(1057-1059)GAT>TAT	p.D353Y	FCRLA_uc001gbd.2_Missense_Mutation_p.D347Y|FCRLA_uc001gbf.2_Missense_Mutation_p.D258Y|FCRLA_uc001gbg.2_Missense_Mutation_p.D207Y|FCRLA_uc009wuo.2_Missense_Mutation_p.D213Y|FCRLA_uc009wup.2_Missense_Mutation_p.D163Y|FCRLA_uc009wuq.2_Missense_Mutation_p.D112Y	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	330					cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACACATGCAGGATGTGAGAGT	0.522			NA											25	65					1.38267e-23	2.36891e-23	0.005443	1	0
SEC16B	89866	broad.mit.edu	37	1	177909851	177909851	+	Splice_Site	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:177909851T>A	uc001gli.1	-	17	2113	c.2023_splice	c.e17-1	p.L675_splice	SEC16B_uc001glk.1_Splice_Site_p.L352_splice|SEC16B_uc009wwy.1_Splice_Site_p.L230_splice|SEC16B_uc001glh.1_Splice_Site_p.L334_splice|SEC16B_uc009wwz.1_Splice_Site_p.L334_splice|SEC16B_uc001glj.1_Splice_Site_p.L676_splice	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						CTCTGCTAGCTGTGCCAGGTT	0.353			NA											26	13					0	0	0.004656	0	0
TDRD5	163589	broad.mit.edu	37	1	179587789	179587789	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:179587789G>T	uc001gnf.1	+	5	1137	c.887G>T	c.(886-888)AGT>ATT	p.S296I	TDRD5_uc010pnp.1_Missense_Mutation_p.S296I|TDRD5_uc001gnh.1_5'UTR	NM_173533	NP_775804	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	296					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			ovary(2)|skin(2)|central_nervous_system(1)	5						GGAACTATCAGTTCAGAACTA	0.308			NA											43	43					8.48111e-28	1.47367e-27	0.00361	1	0
KCNH1	3756	broad.mit.edu	37	1	210977509	210977509	+	Splice_Site	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:210977509C>T	uc001hib.2	-	8	1633	c.1463_splice	c.e8-1	p.S488_splice	KCNH1_uc001hic.2_Splice_Site_p.S461_splice	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,						myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TAGAGAAGTGCTAGAGGTGAG	0.488			NA											10	10					0	0	0.006214	0	0
OBSCN	84033	broad.mit.edu	37	1	228431083	228431083	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:228431083G>T	uc009xez.1	+	10	3173	c.3129G>T	c.(3127-3129)CAG>CAT	p.Q1043H	OBSCN_uc001hsn.2_Missense_Mutation_p.Q1043H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1043	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				TGGTGCAGCAGGCAGGCAAGA	0.577			NA											17	38					4.14922e-12	5.97975e-12	0.004007	1	0
PCNXL2	80003	broad.mit.edu	37	1	233136268	233136268	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:233136268C>T	uc001hvl.2	-	30	5346	c.5111G>A	c.(5110-5112)TGC>TAC	p.C1704Y	PCNXL2_uc001hvk.1_Missense_Mutation_p.C356Y|PCNXL2_uc001hvm.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1704						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				CTCGTCAGGGCAAGTGAACTG	0.617			NA											8	17					0	0	0.00308	0	0
OR2T4	127074	broad.mit.edu	37	1	248525924	248525924	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:248525924G>A	uc001ieh.1	+	1	1042	c.1042G>A	c.(1042-1044)GAG>AAG	p.E348K		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	348	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAAAGCTATGGAGTAGACCAT	0.403			NA											11	110					0	0	0.008291	0	0
OR14I1	401994	broad.mit.edu	37	1	248845249	248845249	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:248845249G>T	uc001ieu.1	-	1	357	c.357C>A	c.(355-357)GAC>GAA	p.D119E		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	119	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CAACATAGCGGTCATAAGACA	0.502			NA											33	21					8.53417e-09	1.10046e-08	0.002836	1	0
OR14I1	401994	broad.mit.edu	37	1	248845465	248845465	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:248845465G>T	uc001ieu.1	-	1	141	c.141C>A	c.(139-141)ATC>ATA	p.I47I		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I,	47	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						GATCGAGAGTGATGACTGCAA	0.507			NA											7	53					4.26978e-12	6.04679e-12	0.00333	1	0
PTER	9317	broad.mit.edu	37	10	16553053	16553053	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:16553053T>C	uc001iog.1	+	6	1055	c.848T>C	c.(847-849)CTC>CCC	p.L283P	PTER_uc001ioh.1_Missense_Mutation_p.L283P|PTER_uc001ioi.1_Missense_Mutation_p.L283P|PTER_uc009xjp.1_Missense_Mutation_p.L236P	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	phosphotriesterase related	283					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			ovary(2)	2						AGGGTGCGTCTCCTGGTGGAA	0.403	Ovarian(2;46 150 15648 38137 47908)		NA											5	13					0	0	0.001984	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702277	27702277	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:27702277G>T	uc001itu.2	-	1	1021	c.903C>A	c.(901-903)TTC>TTA	p.F301L		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	301	Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4						TGTATCCTCCGAAGAAGCCGG	0.597			NA											21	75					4.26978e-12	6.04679e-12	0.00333	1	0
JMJD1C	221037	broad.mit.edu	37	10	64974626	64974626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:64974626C>T	uc001jmn.2	-	8	1601	c.1301G>A	c.(1300-1302)TGG>TAG	p.W434*	JMJD1C_uc001jml.2_Nonsense_Mutation_p.W215*|JMJD1C_uc001jmm.2_Nonsense_Mutation_p.W146*|JMJD1C_uc010qiq.1_Nonsense_Mutation_p.W252*|JMJD1C_uc009xpi.2_Nonsense_Mutation_p.W252*|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmp.1_Nonsense_Mutation_p.W146*	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	434					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TATTTGATCCCAGGGAGGCTG	0.368			NA											16	58					0	0	0.003163	0	0
PPP3CB	5532	broad.mit.edu	37	10	75198004	75198004	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:75198004T>A	uc001jue.2	-	14	1706	c.1571A>T	c.(1570-1572)CAG>CTG	p.Q524L	PPP3CB_uc001juf.2_Missense_Mutation_p.Q525L|PPP3CB_uc001jug.2_Missense_Mutation_p.Q515L|PPP3CB_uc010qkj.1_Missense_Mutation_p.Q152L	NM_021132	NP_066955	P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta	524										skin(1)	1	Prostate(51;0.0119)					AGTGGGTCACTGGGCAGTATG	0.547			NA											8	36					0	0	0.00308	0	0
LIPK	643414	broad.mit.edu	37	10	90490869	90490869	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:90490869G>A	uc010qmv.1	+	3	353	c.353G>A	c.(352-354)AGC>AAC	p.S118N		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	lipase, family member K precursor	118					lipid catabolic process	extracellular region	hydrolase activity			ovary(2)	2		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTGGGGAACAGCCGAGGAAAC	0.443			NA											6	16					0	0	0.001168	0	0
CYP17A1	1586	broad.mit.edu	37	10	104592307	104592307	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:104592307G>A	uc001kwg.2	-	6	1272	c.1100C>T	c.(1099-1101)GCC>GTC	p.A367V		NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	367					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GAGCATAGGGGCCACGGGCCT	0.602			NA											23	75					0	0	0.00278	0	0
SORCS1	114815	broad.mit.edu	37	10	108337311	108337311	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:108337311C>A	uc001kym.2	-	26	3382	c.3374G>T	c.(3373-3375)AGA>ATA	p.R1125I	SORCS1_uc001kyl.2_Intron|SORCS1_uc009xxs.2_Intron|SORCS1_uc001kyn.1_3'UTR	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	1125	Cytoplasmic (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TAAAGCTACTCTCCTAAGAGA	0.488			NA											20	74					3.99206e-14	6.03737e-14	0.007413	1	0
C10orf118	55088	broad.mit.edu	37	10	115891846	115891846	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:115891846C>A	uc001lbb.1	-	11	2405	c.1753G>T	c.(1753-1755)GAA>TAA	p.E585*	C10orf118_uc009xyd.1_Nonsense_Mutation_p.E183*|C10orf118_uc001lbc.1_Nonsense_Mutation_p.E585*|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	585	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AGCTCAGATTCTCTTTTCCTA	0.363			NA											27	57					5.77227e-19	9.42804e-19	0.008361	1	0
CUZD1	50624	broad.mit.edu	37	10	124596450	124596450	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr10:124596450C>A	uc001lgq.2	-	5	1046	c.714G>T	c.(712-714)TCG>TCT	p.S238S	CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_Intron|CUZD1_uc009yae.2_Intron|CUZD1_uc001lgs.2_Silent_p.S238S|CUZD1_uc010qtz.1_Silent_p.S238S	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1 precursor	238	Extracellular (Potential).|CUB 2.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		p.S238L(1)		ovary(1)|skin(1)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AGTTTGATGACGATTCGAAGG	0.453			NA											20	57					0.00887093	0.00965946	0.008871	1	0
OR52W1	120787	broad.mit.edu	37	11	6220734	6220734	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:6220734C>A	uc010qzz.1	+	1	281	c.281C>A	c.(280-282)CCC>CAC	p.P94H		NM_001005178	NP_001005178	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W,	94	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTTGGGCCCCGATCTGTG	0.562			NA											13	21					4.36969e-10	5.91477e-10	0.001855	1	0
OR2AG1	144125	broad.mit.edu	37	11	6807054	6807055	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:6807054_6807055CA>AG	uc001mer.1	+	1	786_787	c.786_787CA>AG	c.(784-789)CCCAGT>CCAGGT	p.S263G		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG,	263	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGTCTTGCCCAGTTCCTTCCA	0.485			NA											20	44					0	0	0.004672	0	0
OR6A2	8590	broad.mit.edu	37	11	6816318	6816318	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:6816318C>T	uc001mes.1	-	1	822	c.622G>A	c.(622-624)GCC>ACC	p.A208T		NM_003696	NP_003687	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A,	208	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATAAAAATGGCCAGGATGAAA	0.488			NA											31	74					0	0	0.010818	0	0
OR5B3	441608	broad.mit.edu	37	11	58170070	58170070	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:58170070C>T	uc010rkf.1	-	1	813	c.813G>A	c.(811-813)ATG>ATA	p.M271I		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B,	271	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACACAGGTGCCATTTTGTCTG	0.453			NA											32	54					0	0	0.012213	0	0
C11orf24	53838	broad.mit.edu	37	11	68030132	68030132	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:68030132C>A	uc001onr.3	-	4	773	c.331G>T	c.(331-333)GCC>TCC	p.A111S	C11orf24_uc001ons.2_Missense_Mutation_p.A111S	NM_022338	NP_071733	Q96F05	CK024_HUMAN	hypothetical protein LOC53838 precursor	111	Extracellular (Potential).					integral to membrane					0						GTACTGGAGGCCACAGCCGTG	0.587	NSCLC(21;855 905 4198 36694)		NA											23	29					1.9806e-07	2.45074e-07	0.002299	1	0
FAM55D	54827	broad.mit.edu	37	11	114450953	114450953	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:114450953T>C	uc001ppc.2	-	5	1181	c.1000A>G	c.(1000-1002)ACA>GCA	p.T334A	FAM55D_uc001ppd.2_Missense_Mutation_p.T50A	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	334						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		ATTTTGACTGTAGCCAAACTA	0.443			NA											35	91					0	0	0.003271	0	0
OR8B12	219858	broad.mit.edu	37	11	124412733	124412733	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr11:124412733G>A	uc010sam.1	-	1	818	c.818C>T	c.(817-819)TCC>TTC	p.S273F		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B,	273	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GAACAGGGAGGACACTTTCCC	0.448			NA											14	31					0	0	0.003163	0	0
NOP2	4839	broad.mit.edu	37	12	6672840	6672840	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:6672840G>C	uc001qpk.1	-	6	672	c.628C>G	c.(628-630)CTG>GTG	p.L210V	NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Missense_Mutation_p.L206V|NOP2_uc001qpi.1_Missense_Mutation_p.L206V|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.L243V|NOP2_uc001qpm.1_Missense_Mutation_p.L210V			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.	210					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						TTGATCTGCAGGCCCCCATCT	0.567			NA									OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	26					0	0	0.006214	0	0
CD163L1	283316	broad.mit.edu	37	12	7556223	7556223	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:7556223G>T	uc001qsy.2	-	6	1342	c.1316C>A	c.(1315-1317)ACT>AAT	p.T439N	CD163L1_uc010sge.1_Missense_Mutation_p.T449N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	439	SRCR 4.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11						CTCATTCCCAGTGCAAGATAT	0.448			NA											46	58					2.61675e-31	4.64569e-31	0.013114	1	0
PRB1	5542	broad.mit.edu	37	12	11506399	11506399	+	Missense_Mutation	SNP	T	T	C	rs111543911		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:11506399T>C	uc001qzw.1	-	4	675	c.638A>G	c.(637-639)CAA>CGA	p.Q213R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1 isoform 1	274	11.|15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in clone CP-4).|Missing (in clone CP-5).	Q -> R (in Ref. 5; CAA30395).		extracellular region					0			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGAGGAGATTGGGAACTTCG	0.612			NA											5	31					0	0	0.001368	0	0
ART4	420	broad.mit.edu	37	12	14993823	14993823	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:14993823T>C	uc001rcl.1	-	2	775	c.409A>G	c.(409-411)ACT>GCT	p.T137A	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.T137A	NM_021071	NP_066549	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4 precursor	137					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity				0						ATGGCTCTAGTAAAGTCAGAA	0.438			NA											34	56					0	0	0.004878	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:25398284C>A	uc001rgp.1	-	2	216	c.35G>T	c.(34-36)GGT>GTT	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	NM_033360	NP_203524	P01116	RASK_HUMAN	c-K-ras2 protein isoform a precursor	12	GTP.		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)		large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119	Mis		pancreatic|colorectal|lung|thyroid|AML|others				Cardiofaciocutaneous_syndrome|Noonan_syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			4	9					2.56e-06	3.04466e-06	0.009096	1	0
SMARCD1	6602	broad.mit.edu	37	12	50479969	50479969	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:50479969G>T	uc001rvx.3	+	2	373	c.203G>T	c.(202-204)CGA>CTA	p.R68L	SMARCD1_uc010smo.1_Missense_Mutation_p.R68L|SMARCD1_uc001rvy.3_Missense_Mutation_p.R68L|SMARCD1_uc009zlp.2_Missense_Mutation_p.R68L	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	SWI/SNF-related matrix-associated	68	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			ovary(1)	1						CCAGGCAGCCGAATGACACCT	0.582			NA											25	44					3.28513e-13	4.87792e-13	0.003954	1	0
SMARCD1	6602	broad.mit.edu	37	12	50492536	50492536	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:50492536C>T	uc001rvx.3	+	12	1602	c.1432C>T	c.(1432-1434)CGA>TGA	p.R478*	SMARCD1_uc001rvy.3_Nonsense_Mutation_p.R437*|SMARCD1_uc009zlp.2_Nonsense_Mutation_p.R437*	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	SWI/SNF-related matrix-associated	478	Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			ovary(1)	1						GGAGGAGCGCCGAGCTGAGTT	0.537			NA											11	20					0	0	0.010729	0	0
GALNT6	11226	broad.mit.edu	37	12	51759270	51759270	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr12:51759270C>G	uc001ryk.2	-	4	983	c.758G>C	c.(757-759)CGG>CCG	p.R253P	GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.R253P	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	253	Catalytic subdomain A.|Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2						CCCCAGCAGCCGGGCGGTGAT	0.657			NA											18	40					0	0	0.006122	0	0
FAM123A	219287	broad.mit.edu	37	13	25743891	25743891	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr13:25743891G>A	uc001uqb.2	-	1	1967	c.1867C>T	c.(1867-1869)CCC>TCC	p.P623S	FAM123A_uc001uqa.2_Missense_Mutation_p.P504S|FAM123A_uc001uqc.2_Missense_Mutation_p.P504S	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	623										ovary(2)|large_intestine(1)|lung(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)		TGCACCACGGGATGGCTAGAT	0.562			NA											41	82					0	0	0.013114	0	0
FAM124A	220108	broad.mit.edu	37	13	51805511	51805511	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr13:51805511G>T	uc001vfg.1	+	2	227	c.96G>T	c.(94-96)ACG>ACT	p.T32T	FAM124A_uc001vfe.2_Silent_p.T32T|FAM124A_uc001vff.1_Silent_p.T32T	NM_145019	NP_659456	Q86V42	F124A_HUMAN	hypothetical protein LOC220108	32										central_nervous_system(1)	1		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		TGTCCTCCACGAGCAGTAAGT	0.428			NA											31	75					2.42023e-17	3.85037e-17	0.003271	1	0
PCDH17	27253	broad.mit.edu	37	13	58299398	58299398	+	Silent	SNP	G	G	T	rs141868878		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr13:58299398G>T	uc001vhq.1	+	4	4342	c.3450G>T	c.(3448-3450)CGG>CGT	p.R1150R	PCDH17_uc010aec.1_Silent_p.R1149R|PCDH17_uc001vhr.1_Silent_p.R239R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	1150	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AAGACTGCCGGGGAAACGACC	0.443	Melanoma(72;952 1291 1619 12849 33676)		NA											57	92					4.17463e-26	7.2027e-26	0.00361	1	0
COL4A1	1282	broad.mit.edu	37	13	110839649	110839649	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr13:110839649C>A	uc001vqw.3	-	25	1686	c.1564G>T	c.(1564-1566)GGC>TGC	p.G522C	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	522	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGCTGGCCTATCAGCCCT	0.547			NA											12	24					2.31682e-05	2.67746e-05	0.003163	1	0
Unknown	0	broad.mit.edu	37	14	22994680	22994680	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:22994680G>T	uc001wbw.2	+	3	410	c.401G>T	c.(400-402)TGG>TTG	p.W134L	uc010aja.1_Intron|uc010tmk.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc001wcx.3_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron|uc001wdv.3_Intron|uc001wec.2_Intron|uc001wee.3_Intron|uc010tmt.1_Intron|uc010ajv.1_Intron|uc001weg.2_Intron|uc001wei.2_Intron|uc001wej.2_Intron|uc001wek.2_Intron|uc001wel.2_Intron|uc001wem.3_Intron|uc001wen.1_Intron|uc001weo.2_Intron|uc001wep.2_Intron|uc001weq.2_Intron|uc001wer.2_Intron|uc001wet.2_Intron|uc001weu.2_Intron|uc001wev.2_Intron|uc001wew.2_Intron|uc010tmv.1_Intron|uc001wez.2_Intron|uc010ajx.1_Intron|uc001wfb.1_Intron|uc001wfd.1_Intron|uc001wfe.2_Intron|uc001wfg.2_Intron|uc001wfh.1_Intron|uc001wfi.2_Intron|uc001wfk.2_Intron|uc001wfl.2_Intron|uc010ajy.1_Intron|uc001wfn.2_Intron|uc001wfp.2_Intron|uc001wfq.1_Intron|uc001wfr.1_Intron|uc010ajz.1_Intron|uc001wfs.1_Intron|uc001wft.1_Intron|uc001wfu.2_Intron|uc001wfv.1_Intron|uc001wfw.1_5'UTR|uc001wfx.2_5'Flank|uc001wfy.1_5'Flank					SubName: Full=Alpha-chain C region; Flags: Fragment;												NA						TTGACTGTCTGGCCTGGTGAG	0.448			NA											35	47					9.04072e-19	1.46687e-18	0.003271	1	0
TGM1	7051	broad.mit.edu	37	14	24731047	24731047	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:24731047C>A	uc001wod.2	-	3	486	c.362G>T	c.(361-363)CGC>CTC	p.R121L	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	121					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTGGTCCGAGCGCGAGCTCAG	0.597			NA											25	60					4.22769e-11	5.85189e-11	0.00632	1	0
SLC8A3	6547	broad.mit.edu	37	14	70634693	70634693	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:70634693G>T	uc001xly.2	-	2	1201	c.447C>A	c.(445-447)CTC>CTA	p.L149L	SLC8A3_uc001xlw.2_Silent_p.L149L|SLC8A3_uc001xlx.2_Silent_p.L149L|SLC8A3_uc001xlz.2_Silent_p.L149L|SLC8A3_uc010ara.2_RNA	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	149	Alpha-1.|Helical; (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTAAAGAGAGGAGTATCTCAG	0.488			NA											19	43					1.40151e-16	2.18707e-16	0.010504	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72165763	72165763	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:72165763G>C	uc001xms.2	+	11	3788	c.3440G>C	c.(3439-3441)CGG>CCG	p.R1147P	SIPA1L1_uc001xmt.2_Missense_Mutation_p.R1147P|SIPA1L1_uc001xmu.2_Missense_Mutation_p.R1147P|SIPA1L1_uc001xmv.2_Missense_Mutation_p.R1147P|SIPA1L1_uc010ttm.1_Missense_Mutation_p.R622P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1147					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCCCAGTGTCGGAACTCTCCT	0.493			NA											22	60					0	0	0.010504	0	0
ABCD4	5826	broad.mit.edu	37	14	74764696	74764696	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:74764696C>T	uc001xpr.2	-	4	514	c.362G>A	c.(361-363)CGC>CAC	p.R121H	ABCD4_uc001xps.2_5'UTR|ABCD4_uc001xpt.2_5'UTR|ABCD4_uc010tur.1_Missense_Mutation_p.R34H|ABCD4_uc001xpu.2_Intron|ABCD4_uc001xpv.2_RNA	NM_005050	NP_005041	O14678	ABCD4_HUMAN	ATP-binding cassette, sub-family D, member 4	121	ABC transmembrane type-1.					ATP-binding cassette (ABC) transporter complex|integral to membrane|peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			upper_aerodigestive_tract(2)|large_intestine(1)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00153)		GAAGTAGAGGCGGTGAAGGTG	0.572			NA											11	57					0	0	0.010729	0	0
WDR25	79446	broad.mit.edu	37	14	100934431	100934431	+	Missense_Mutation	SNP	G	G	T	rs146541699	byFrequency	TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:100934431G>T	uc010avx.2	+	3	989	c.896G>T	c.(895-897)CGG>CTG	p.R299L	WDR25_uc001yhm.2_Missense_Mutation_p.R291L|WDR25_uc001yhn.2_Missense_Mutation_p.R299L|WDR25_uc010avy.2_Intron|WDR25_uc001yho.2_Missense_Mutation_p.R42L	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	299	WD 2.										0		Melanoma(154;0.212)				CGGGCCGCCCGGTGGGCTCCC	0.627			NA											72	77					3.19358e-47	5.92747e-47	0.00361	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102481660	102481660	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr14:102481660C>A	uc001yks.2	+	35	7397	c.7233C>A	c.(7231-7233)CCC>CCA	p.P2411P	DYNC1H1_uc001ykt.1_5'UTR	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2411	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CCGCTTCCCCCATGCTGCAGG	0.512			NA											12	11					1.5842e-08	2.03209e-08	0.001855	1	0
C15orf2	23742	broad.mit.edu	37	15	24923786	24923786	+	Silent	SNP	A	A	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:24923786A>T	uc001ywo.2	+	1	3246	c.2772A>T	c.(2770-2772)CCA>CCT	p.P924P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	924					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCCCAGCACCAGTTATAGGCT	0.478			NA											33	87					0	0	0.012213	0	0
RYR3	6263	broad.mit.edu	37	15	34064229	34064229	+	Silent	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:34064229G>A	uc001zhi.2	+	63	8995	c.8925G>A	c.(8923-8925)AAG>AAA	p.K2975K	RYR3_uc010bar.2_Silent_p.K2975K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2975	Cytoplasmic (By similarity).				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)		AACTTGGGAAGTTCACCCATT	0.468			NA											10	13					0	0	0.006214	0	0
BNIP2	663	broad.mit.edu	37	15	59971852	59971852	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:59971852C>A	uc010uhc.1	-	4	600	c.597G>T	c.(595-597)GGG>GGT	p.G199G	BNIP2_uc010uhb.1_Silent_p.G140G	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 2	78					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			ovary(1)	1						AGTCAATCTCCCCACTTTCAT	0.383	Ovarian(174;1936 1978 6671 8240 38212)		NA											7	28					5.4927e-09	7.23501e-09	0.004482	1	0
HEXA	3073	broad.mit.edu	37	15	72637811	72637811	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:72637811G>A	uc002aun.3	-	13	1709	c.1502C>T	c.(1501-1503)TCA>TTA	p.S501L	uc002aug.2_RNA|CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Missense_Mutation_p.S512L|HEXA_uc002auo.3_Missense_Mutation_p.S364L|HEXA_uc010bix.2_Missense_Mutation_p.S501L	NM_000520	NP_000511	P06865	HEXA_HUMAN	hexosaminidase A preproprotein	501					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			ovary(3)|upper_aerodigestive_tract(1)	4						GCGGAAGTGTGACAAACGTTC	0.562			NA											23	45					0	0	0.00278	0	0
FBXO22	26263	broad.mit.edu	37	15	76205553	76205553	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:76205553A>G	uc002bbk.2	+	3	394	c.289A>G	c.(289-291)ATC>GTC	p.I97V	FBXO22_uc002bbj.1_Missense_Mutation_p.I97V|FBXO22_uc002bbl.2_5'UTR	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	97					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						GAATGTTCGCATCTTACCACA	0.338			NA											16	49					0	0	0.003163	0	0
AKAP13	11214	broad.mit.edu	37	15	86225438	86225438	+	Silent	SNP	T	T	A	rs146923250		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr15:86225438T>A	uc002blv.1	+	15	5321	c.5151T>A	c.(5149-5151)ACT>ACA	p.T1717T	AKAP13_uc002blt.1_Silent_p.T1699T|AKAP13_uc002blu.1_Silent_p.T1721T|AKAP13_uc010bnf.1_Silent_p.T339T|AKAP13_uc002blw.1_Silent_p.T184T|AKAP13_uc002blx.1_5'UTR|AKAP13_uc010bne.1_Silent_p.T370T	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	1717					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						CTAATCTGACTGAGAGGTACT	0.328	Melanoma(94;603 1453 3280 32295 32951)		NA											3	30					0	0	0.004672	0	0
MSLNL	401827	broad.mit.edu	37	16	830154	830154	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr16:830154G>A	uc002cjz.1	-	3	847	c.847C>T	c.(847-849)CAG>TAG	p.Q283*		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	16					cell adhesion	integral to membrane				breast(3)|ovary(1)	4						CCTGAGCTCTGCAGGGCACCT	0.697			NA											4	15					0	0	0.009096	0	0
NDUFB10	4716	broad.mit.edu	37	16	2011497	2011497	+	Splice_Site	SNP	G	G	A	rs113652159		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr16:2011497G>A	uc002cni.2	+	3	379	c.270_splice	c.e3-1	p.Y90_splice	NDUFB10_uc002cnj.2_Splice_Site_p.Y90_splice	NM_004548	NP_004539	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)	TTCTCCACCAGCAAAGTCGAC	0.488			NA											5	206					0	0	0.000602	0	0
CDH5	1003	broad.mit.edu	37	16	66436571	66436571	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr16:66436571C>T	uc002eom.3	+	12	2010	c.1854C>T	c.(1852-1854)ATC>ATT	p.I618I		NM_001795	NP_001786	P33151	CADH5_HUMAN	cadherin 5, type 2 preproprotein	618	Helical; (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCCTGCTCATCTTCCTGCGGC	0.607			NA											7	14					0	0	0.006214	0	0
CASC3	22794	broad.mit.edu	37	17	38318122	38318122	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr17:38318122C>T	uc010cwt.1	+	4	709	c.414C>T	c.(412-414)ACC>ACT	p.T138T	CASC3_uc010cws.1_Silent_p.T138T|CASC3_uc002hue.2_Silent_p.T138T	NM_007359	NP_031385	O15234	CASC3_HUMAN	metastatic lymph node 51	138	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			ovary(1)	1						AGCCTGACACCAAAAGCACTG	0.443			NA											5	40					0	0	0.000602	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389964	56389964	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr17:56389964G>A	uc002ivx.3	-	17	3089	c.2218C>T	c.(2218-2220)CCT>TCT	p.P740S	BZRAP1_uc010dcs.2_Missense_Mutation_p.P680S|BZRAP1_uc010wnt.1_Missense_Mutation_p.P740S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	peripheral benzodiazepine receptor-associated	740						mitochondrion	benzodiazepine receptor binding			upper_aerodigestive_tract(2)|skin(1)	3	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGAGTTCAGGGCCTGAGCTG	0.607			NA											27	39					0	0	0.008361	0	0
MTMR4	9110	broad.mit.edu	37	17	56573570	56573570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr17:56573570C>A	uc002iwj.2	-	16	2043	c.1933G>T	c.(1933-1935)GAG>TAG	p.E645*		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	645						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCAGGGCTCCAGGCCTACC	0.557			NA											23	30					4.4004e-07	5.31083e-07	0.00333	1	0
TANC2	26115	broad.mit.edu	37	17	61482500	61482500	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr17:61482500G>T	uc002jal.3	+	18	3150	c.3127G>T	c.(3127-3129)GGA>TGA	p.G1043*	TANC2_uc010wpe.1_Nonsense_Mutation_p.G953*|TANC2_uc002jao.3_Nonsense_Mutation_p.G144*	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1043	ANK 6.						binding			ovary(2)	2						AGCTGCAGCCGGAAGGGGCAA	0.562			NA											9	15					1.08611e-07	1.35763e-07	0.010729	1	0
OSBPL1A	114876	broad.mit.edu	37	18	21897289	21897289	+	Splice_Site	SNP	A	A	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr18:21897289A>T	uc002kve.2	-	10	980	c.806_splice	c.e10+1	p.Q269_splice	OSBPL1A_uc002kvf.3_Splice_Site_p.Q49_splice	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B						cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CATAATACTTACTGTTTCCTA	0.299			NA											28	80					0	0	0.00632	0	0
C18orf26	284254	broad.mit.edu	37	18	52265217	52265217	+	Silent	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr18:52265217G>C	uc002lfq.1	+	3	520	c.474G>C	c.(472-474)GTG>GTC	p.V158V	C18orf26_uc002lfp.1_Silent_p.V106V	NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	hypothetical protein LOC284254	158						integral to membrane					0				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		GAGAGTGTGTGACTGTCAAAC	0.443			NA											11	58					0	0	0.008291	0	0
PIGN	23556	broad.mit.edu	37	18	59821870	59821870	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr18:59821870G>A	uc002lii.3	-	7	905	c.457C>T	c.(457-459)CAC>TAC	p.H153Y	PIGN_uc002lij.3_Missense_Mutation_p.H153Y	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	153	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				GTATAAACGTGGTCTCCACTA	0.313			NA											28	82					0	0	0.008361	0	0
SERPINB4	6318	broad.mit.edu	37	18	61328359	61328359	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr18:61328359G>A	uc002ljg.2	-	1	118	c.92C>T	c.(91-93)CCT>CTT	p.P31L	SERPINB3_uc002lji.2_Missense_Mutation_p.P31L|SERPINB3_uc010dqa.2_Missense_Mutation_p.P31L|SERPINB3_uc010dqb.2_Missense_Mutation_p.P31L|SERPINB3_uc010dqc.2_Missense_Mutation_p.P31L			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	31					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3						GATGCTGATAGGGGAATAGAA	0.423			NA											32	80					0	0	0.002836	0	0
MUC16	94025	broad.mit.edu	37	19	9087226	9087226	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:9087226C>A	uc002mkp.2	-	1	4793	c.4589G>T	c.(4588-4590)GGG>GTG	p.G1530V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	1530	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TGTTAAGTCCCCAGTTCTGCC	0.468			NA											71	115					6.8682e-38	1.26519e-37	0.00361	1	0
ZNF43	7594	broad.mit.edu	37	19	21992268	21992268	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:21992268G>A	uc002nqj.2	-	4	701	c.571C>T	c.(571-573)CAA>TAA	p.Q191*	ZNF43_uc010ecv.2_Nonsense_Mutation_p.Q185*|ZNF43_uc002nql.2_Nonsense_Mutation_p.Q185*|ZNF43_uc002nqm.2_Nonsense_Mutation_p.Q185*|ZNF43_uc002nqk.2_Nonsense_Mutation_p.Q121*	NM_003423	NP_003414	P17038	ZNF43_HUMAN	zinc finger protein 43	191	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ATTTTATGTTGAGCTAGATGT	0.303			NA											11	14					0	0	0.008291	0	0
ZNF99	7652	broad.mit.edu	37	19	22939436	22939436	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:22939436C>T	uc010xrh.1	-	7	2735	c.2735G>A	c.(2734-2736)GGG>GAG	p.G912E		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CGGTTTCTCCCCAGTATGAAT	0.358			NA											21	27					0	0	0.010504	0	0
FAM187B	148109	broad.mit.edu	37	19	35716023	35716023	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:35716023C>T	uc002nyk.1	-	2	860	c.815G>A	c.(814-816)GGC>GAC	p.G272D		NM_152481	NP_689694	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	272	Extracellular (Potential).					integral to membrane				ovary(2)	2						CTGCCTGCCGCCGGTGGAGGG	0.667			NA											9	20					0	0	0.004482	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278085	36278085	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:36278085C>T	uc002obs.1	+	21	2220	c.2135C>T	c.(2134-2136)TCA>TTA	p.S712L	ARHGAP33_uc002obt.1_Missense_Mutation_p.S737L|ARHGAP33_uc010eel.2_Missense_Mutation_p.S461L|ARHGAP33_uc002obv.1_Missense_Mutation_p.S461L	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	760					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						GATATGGAGTCACCACTGCCA	0.657			NA											9	72					0	0	0.004482	0	0
ZNF383	163087	broad.mit.edu	37	19	37733742	37733742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:37733742G>T	uc002oft.1	+	8	1184	c.604G>T	c.(604-606)GAG>TAG	p.E202*	ZNF383_uc002ofs.1_Nonsense_Mutation_p.E137*|ZNF383_uc002ofu.1_Nonsense_Mutation_p.E202*	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	zinc finger protein 383	202	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAATGTAAAGAGTGTGGGAA	0.358			NA											33	35					4.15321e-07	5.06237e-07	0.009535	1	0
RYR1	6261	broad.mit.edu	37	19	38980864	38980864	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:38980864C>T	uc002oit.2	+	36	6093	c.5963C>T	c.(5962-5964)GCA>GTA	p.A1988V	RYR1_uc002oiu.2_Missense_Mutation_p.A1988V	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	1988	Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGCATGACCGCAGCAGAGACT	0.602			NA											8	44					0	0	0.004482	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42392303	42392303	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:42392303G>T	uc002orx.2	+	3	174	c.65G>T	c.(64-66)AGC>ATC	p.S22I	ARHGEF1_uc002orw.1_Missense_Mutation_p.S22I|ARHGEF1_uc002ory.2_Missense_Mutation_p.S22I|ARHGEF1_uc002orz.2_5'UTR|ARHGEF1_uc002osa.2_Missense_Mutation_p.S37I|ARHGEF1_uc002osb.2_Missense_Mutation_p.S37I	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor 1 isoform	22					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(3)|large_intestine(1)	4		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GTTCCCGTCAGCATCATCGGG	0.632			NA											45	138					1.67211e-32	3.01225e-32	0.00361	1	0
APOE	348	broad.mit.edu	37	19	45412386	45412386	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:45412386G>T	uc002pab.2	+	4	916	c.833G>T	c.(832-834)CGC>CTC	p.R278L		NM_000041	NP_000032	P02649	APOE_HUMAN	apolipoprotein E precursor	278					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding				0	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TTCCAGGCCCGCCTCAAGAGC	0.706			NA											9	9					3.09899e-07	3.81533e-07	0.004482	1	0
ZNF473	25888	broad.mit.edu	37	19	50549674	50549674	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:50549674T>A	uc002prn.2	+	5	2211	c.1974T>A	c.(1972-1974)AGT>AGA	p.S658R	ZNF473_uc002prm.2_Missense_Mutation_p.S658R|ZNF473_uc010ybo.1_Missense_Mutation_p.S646R	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	658	C2H2-type 13.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGCCACAGTGCACACCTCT	0.453			NA											22	28					0	0	0.002299	0	0
ZNF71	58491	broad.mit.edu	37	19	57133270	57133270	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:57133270G>T	uc002qnm.3	+	3	853	c.615G>T	c.(613-615)CAG>CAT	p.Q205H		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	205	C2H2-type 3.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTGTGCACCAGCGCACGCACA	0.657			NA											12	36					1.08611e-07	1.35763e-07	0.010729	1	0
PEG3	5178	broad.mit.edu	37	19	57328601	57328601	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:57328601C>A	uc002qnu.2	-	7	1560	c.1209G>T	c.(1207-1209)TCG>TCT	p.S403S	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_Silent_p.S374S|PEG3_uc002qnv.2_Silent_p.S403S|PEG3_uc002qnw.2_Silent_p.S279S|PEG3_uc002qnx.2_Silent_p.S277S|PEG3_uc010etr.2_Silent_p.S403S	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN	paternally expressed 3 isoform 1	403					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)		GATCGTGAATCGAGCCCTTCC	0.478			NA											32	65					4.74835e-14	7.1371e-14	0.010818	1	0
NBAS	51594	broad.mit.edu	37	2	15523386	15523386	+	Missense_Mutation	SNP	T	T	C	rs142327626		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:15523386T>C	uc002rcc.1	-	29	3339	c.3313A>G	c.(3313-3315)ATG>GTG	p.M1105V	NBAS_uc010exl.1_Missense_Mutation_p.M177V|NBAS_uc002rcd.1_RNA	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1105										ovary(2)|liver(1)|skin(1)	4						TTCTGCTGCATAGTTAACATG	0.353			NA											18	73					0	0	0.012319	0	0
DNAJC27	51277	broad.mit.edu	37	2	25174272	25174272	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:25174272C>A	uc002rft.1	-	6	731	c.680G>T	c.(679-681)GGG>GTG	p.G227V	DNAJC27_uc010ykn.1_Missense_Mutation_p.G156V|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Intron	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	227	J.				protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			skin(1)	1						CCTTGAGGCCCCAGGTTTGAC	0.443			NA											36	116					1.49673e-21	2.54652e-21	0.00623	1	0
C2orf78	388960	broad.mit.edu	37	2	74040695	74040695	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:74040695C>A	uc002sjr.1	+	2	310	c.189C>A	c.(187-189)AGC>AGA	p.S63R		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	63	Ser-rich.									ovary(2)	2						TAACAGGAAGCATCTCCAACT	0.507			NA											8	49					1.12685e-05	1.31466e-05	0.004482	1	0
ACTG2	72	broad.mit.edu	37	2	74129562	74129562	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:74129562C>G	uc002sjw.2	+	3	324	c.202C>G	c.(202-204)CTC>GTC	p.L68V	ACTG2_uc010fex.1_Missense_Mutation_p.L68V|ACTG2_uc010fey.2_Missense_Mutation_p.L68V|ACTG2_uc010yrn.1_Intron	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	68					muscle contraction	cytoskeleton|cytosol	ATP binding				0						GATCCTAACTCTCAAATACCC	0.483			NA											22	35					0	0	0.012319	0	0
REG3A	5068	broad.mit.edu	37	2	79386484	79386484	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:79386484G>T	uc002sod.1	-	1	303	c.48C>A	c.(46-48)TCC>TCA	p.S16S	REG3A_uc002soe.1_Silent_p.S16S|REG3A_uc002sof.1_Silent_p.S16S	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	16					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1						GCATGAGGCAGGAAAGCAGCA	0.532			NA											11	49					7.03913e-09	9.17333e-09	0.001368	1	0
CTNNA2	1496	broad.mit.edu	37	2	80101282	80101283	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:80101282_80101283GG>TT	uc010ysh.1	+	5	671_672	c.666_667GG>TT	c.(664-669)ACGGCC>ACTTCC	p.A223S	CTNNA2_uc010yse.1_Missense_Mutation_p.A223S|CTNNA2_uc010ysf.1_Missense_Mutation_p.A223S|CTNNA2_uc010ysg.1_Missense_Mutation_p.A223S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	223					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9						TGCTGTACACGGCCTCTCAAGC	0.554			NA											10	43					0	0	0.004672	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141571	103141571	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:103141571G>A	uc002tbz.3	+	10	2364	c.1907G>A	c.(1906-1908)AGG>AAG	p.R636K		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	636	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3						AACACCTTAAGGGAGAGCATG	0.517			NA											43	127					0	0	0.00874	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863677	108863677	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:108863677C>A	uc010ywo.1	+	1	27	c.27C>A	c.(25-27)CCC>CCA	p.P9P		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member	9						cytoplasm	alcohol sulfotransferase activity			skin(1)	1						AAAACGCTCCCACGATGGAAA	0.353			NA											24	52					1.2476e-16	1.95937e-16	0.00632	1	0
FBLN7	129804	broad.mit.edu	37	2	112944812	112944812	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:112944812C>T	uc002tho.1	+	8	1320	c.1049C>T	c.(1048-1050)ACG>ATG	p.T350M	FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Missense_Mutation_p.T304M|FBLN7_uc010fkj.1_Missense_Mutation_p.T216M	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	350					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						AACCTGAAGACGCCCATCACG	0.657			NA											8	162					0	0	0.006214	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125285017	125285017	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:125285017T>C	uc002tno.2	+	10	1994	c.1630T>C	c.(1630-1632)TGT>CGT	p.C544R	CNTNAP5_uc010flu.2_Missense_Mutation_p.C545R	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	544	Laminin G-like 2.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATTGATCTGTGTAGCATCAA	0.408			NA											32	86					0	0	0.009535	0	0
LRP1B	53353	broad.mit.edu	37	2	141081510	141081510	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:141081510C>G	uc002tvj.1	-	81	13438	c.12466G>C	c.(12466-12468)GAT>CAT	p.D4156H		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4156	Extracellular (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTGTTTTATCAATATTTAAA	0.269	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			16	64					0	0	0.004007	0	0
LRP1B	53353	broad.mit.edu	37	2	141253245	141253245	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:141253245C>A	uc002tvj.1	-	56	9895	c.8923G>T	c.(8923-8925)GGC>TGC	p.G2975C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2975	Extracellular (Potential).|EGF-like 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGGGAAAGCCTGAAGAGCAT	0.433	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			14	49					1.49906e-05	1.74061e-05	0.00245	1	0
LRP1B	53353	broad.mit.edu	37	2	141625201	141625201	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:141625201G>T	uc002tvj.1	-	27	5509	c.4537C>A	c.(4537-4539)CCA>ACA	p.P1513T	LRP1B_uc010fnl.1_Missense_Mutation_p.P695T	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1513	Extracellular (Potential).|LDL-receptor class B 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGTCAAATGGCTGTGCACTG	0.448	Colon(99;50 2074 2507 20106)		NA								TSP Lung(27;0.18)			25	86					4.26978e-12	6.04679e-12	0.00333	1	0
ORC4L	5000	broad.mit.edu	37	2	148733486	148733486	+	Silent	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:148733486T>A	uc002twi.2	-	2	177	c.42A>T	c.(40-42)ACA>ACT	p.T14T	ORC4L_uc002twj.2_Silent_p.T14T|ORC4L_uc010zbo.1_Intron|ORC4L_uc010zbp.1_5'UTR|ORC4L_uc010fnr.2_Silent_p.T14T|ORC4L_uc010zbq.1_Intron|ORC4L_uc002twk.2_Silent_p.T14T|ORC4L_uc010zbr.1_Silent_p.T14T	NM_181741	NP_859525	O43929	ORC4_HUMAN	origin recognition complex subunit 4	14					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)		AAAGGCACTCTGTGTGAATTA	0.299			NA											7	53					0	0	0.00308	0	0
MARCH7	64844	broad.mit.edu	37	2	160604822	160604822	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:160604822G>T	uc002uax.2	+	5	1143	c.1021G>T	c.(1021-1023)GCA>TCA	p.A341S	MARCH7_uc010foq.2_Missense_Mutation_p.A341S|MARCH7_uc010zcn.1_Missense_Mutation_p.A285S|MARCH7_uc010for.2_Missense_Mutation_p.A303S|MARCH7_uc002uay.2_RNA	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	341	Ser-rich.						ligase activity|zinc ion binding				0						CGATAATAGGGCATCTGAAGC	0.398			NA											12	51					4.3838e-07	5.31083e-07	0.001855	1	0
FAM171B	165215	broad.mit.edu	37	2	187626990	187626990	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:187626990G>C	uc002ups.2	+	8	2033	c.1921G>C	c.(1921-1923)GTT>CTT	p.V641L	FAM171B_uc002upr.1_Missense_Mutation_p.V608L|FAM171B_uc002upt.2_Missense_Mutation_p.V110L	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	641	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10						AAATGAGGCTGTTGTAATGAC	0.507			NA											32	122					0	0	0.003755	0	0
RFTN2	130132	broad.mit.edu	37	2	198498578	198498578	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:198498578A>T	uc002uuo.3	-	4	984	c.582T>A	c.(580-582)TGT>TGA	p.C194*		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	raftlin family member 2	194						plasma membrane					0						TCCAACTTCTACAGTTTTCAT	0.398			NA											38	111					0	0	0.007835	0	0
SATB2	23314	broad.mit.edu	37	2	200213481	200213481	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:200213481C>T	uc002uuy.1	-	7	1933	c.1116G>A	c.(1114-1116)CTG>CTA	p.L372L	SATB2_uc010fsq.1_Silent_p.L254L|SATB2_uc002uuz.1_Silent_p.L372L|SATB2_uc002uva.1_Silent_p.L372L|SATB2_uc002uvb.1_Silent_p.L115L	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	372	CUT 1.					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1						TGGCCCTCTTCAGCTCATCTC	0.488	Colon(30;262 767 11040 24421 36230)		NA											23	123					0	0	0.003954	0	0
NDUFS1	4719	broad.mit.edu	37	2	207012264	207012264	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:207012264C>G	uc002vbe.2	-	7	669	c.542G>C	c.(541-543)CGC>CCC	p.R181P	NDUFS1_uc010ziq.1_Missense_Mutation_p.R195P|NDUFS1_uc010zir.1_Missense_Mutation_p.R145P|NDUFS1_uc010zis.1_Missense_Mutation_p.R124P|NDUFS1_uc010zit.1_Missense_Mutation_p.R70P|NDUFS1_uc010ziu.1_Missense_Mutation_p.R65P	NM_005006	NP_004997	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1,	181					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)	CCTGATGCAGCGAGTACACTG	0.348			NA											9	21					0	0	0.004482	0	0
DOCK10	55619	broad.mit.edu	37	2	225658144	225658144	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:225658144G>A	uc010fwz.1	-	46	5424	c.5185C>T	c.(5185-5187)CTC>TTC	p.L1729F	DOCK10_uc002vob.2_Missense_Mutation_p.L1723F|DOCK10_uc002voa.2_Missense_Mutation_p.L385F|DOCK10_uc002voc.2_Missense_Mutation_p.L583F	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1729	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTGCAATGAGAGCAGCAATA	0.383			NA											6	62					0	0	0.001984	0	0
DOCK10	55619	broad.mit.edu	37	2	225659622	225659622	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr2:225659622G>A	uc010fwz.1	-	45	5367	c.5128C>T	c.(5128-5130)CAT>TAT	p.H1710Y	DOCK10_uc002vob.2_Missense_Mutation_p.H1704Y|DOCK10_uc002voa.2_Missense_Mutation_p.H366Y|DOCK10_uc002voc.2_Missense_Mutation_p.H564Y	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1710	DHR-2.						GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTTCTGGCATGAATCTTGGCC	0.473			NA											15	112					0	0	0.003163	0	0
PYGB	5834	broad.mit.edu	37	20	25257281	25257281	+	Splice_Site	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr20:25257281G>A	uc002wup.2	+	6	770	c.661_splice	c.e6-1	p.V221_splice		NM_002862	NP_002853	P11216	PYGB_HUMAN	brain glycogen phosphorylase						glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					Pyridoxal Phosphate(DB00114)	TTTGTGGCCAGGTGGTGCTGG	0.682			NA											7	29					0	0	0.001984	0	0
CTSA	5476	broad.mit.edu	37	20	44522627	44522627	+	Silent	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr20:44522627G>A	uc002xqj.3	+	8	1167	c.693G>A	c.(691-693)AGG>AGA	p.R231R	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqh.2_Silent_p.R249R|CTSA_uc002xqi.2_RNA|CTSA_uc010zxi.1_Silent_p.R232R|CTSA_uc002xqk.3_Silent_p.R231R	NM_001127695	NP_001121167	P10619	PPGB_HUMAN	cathepsin A isoform b precursor	231					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				TCTCCTACAGGCTTTGGTCTT	0.537			NA											19	76					0	0	0.007413	0	0
BHLHE23	128408	broad.mit.edu	37	20	61637730	61637730	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr20:61637730T>A	uc002yeb.2	-	1	658	c.349A>T	c.(349-351)AAC>TAC	p.N117Y		NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix domain containing, class	117	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding				0						AGCGCGTCGTTTAGGTCGTGC	0.368			NA											7	19					0	0	0.00308	0	0
NRIP1	8204	broad.mit.edu	37	21	16338524	16338524	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr21:16338524C>A	uc002yjx.2	-	4	2588	c.1990G>T	c.(1990-1992)GGT>TGT	p.G664C		NM_003489	NP_003480	P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	664	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity				0				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TCAATCATACCTATCGGTTTA	0.388			NA											12	45					1.61879e-10	2.20336e-10	0.001368	1	0
TIAM1	7074	broad.mit.edu	37	21	32624131	32624131	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr21:32624131C>T	uc002yow.1	-	6	1810	c.1338G>A	c.(1336-1338)CTG>CTA	p.L446L	TIAM1_uc011adk.1_Silent_p.L446L|TIAM1_uc011adl.1_Silent_p.L446L|TIAM1_uc002yox.1_Silent_p.L54L	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	446	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						TCTTGTGCACCAGGAAGTTCT	0.652			NA											27	109					0	0	0.012213	0	0
DSCAM	1826	broad.mit.edu	37	21	41710051	41710051	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr21:41710051T>C	uc002yyq.1	-	8	2212	c.1760A>G	c.(1759-1761)CAG>CGG	p.Q587R	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	587	Extracellular (Potential).|Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGGACGCTCTGGCTGGTGGA	0.507	Melanoma(134;970 1778 1785 21664 32388)		NA											22	87					0	0	0.00333	0	0
CRYBB3	1417	broad.mit.edu	37	22	25601313	25601313	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr22:25601313C>T	uc003abo.1	+	5	526	c.454C>T	c.(454-456)CGT>TGT	p.R152C		NM_004076	NP_004067	P26998	CRBB3_HUMAN	crystallin, beta B3	152	Beta/gamma crystallin 'Greek key' 3.				visual perception		protein binding|structural constituent of eye lens				0						GGCGAGTGTCCGTGCCATCAA	0.567			NA											9	21					0	0	0.004482	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139897	40139897	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr22:40139897G>T	uc003ayg.2	-	7	1862	c.1611C>A	c.(1609-1611)GAC>GAA	p.D537E		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	537										ovary(2)|skin(1)	3	Melanoma(58;0.0749)					CCTGGGGGAAGTCTTTGGTTG	0.438			NA											18	21					5.3912e-06	6.38089e-06	0.006122	1	0
PARVB	29780	broad.mit.edu	37	22	44553883	44553883	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr22:44553883G>T	uc003ben.2	+	11	917	c.865G>T	c.(865-867)GTT>TTT	p.V289F	PARVB_uc003bem.2_Missense_Mutation_p.V322F|PARVB_uc010gzn.2_Missense_Mutation_p.V214F|PARVB_uc003beo.2_Missense_Mutation_p.V252F	NM_013327	NP_037459	Q9HBI1	PARVB_HUMAN	parvin, beta isoform b	289	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding				0		Ovarian(80;0.0246)|all_neural(38;0.0423)				CGTGTACCTGGTTCTGCTCAT	0.498			NA											18	32					7.41877e-09	9.61693e-09	0.012319	1	0
KLHDC7B	113730	broad.mit.edu	37	22	50987893	50987893	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr22:50987893C>A	uc003bmi.2	+	1	1432	c.1298C>A	c.(1297-1299)CCA>CAA	p.P433Q		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	433	Kelch 3.									central_nervous_system(1)	1		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGCGCGCCACTCCCCGCA	0.672			NA											47	71					4.00472e-15	6.13223e-15	0.00361	1	0
SETD5	55209	broad.mit.edu	37	3	9477415	9477415	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:9477415G>T	uc003brt.2	+	7	827	c.392G>T	c.(391-393)GGG>GTG	p.G131V	SETD5_uc003brs.1_Missense_Mutation_p.G112V|SETD5_uc003bru.2_Missense_Mutation_p.G20V|SETD5_uc003brv.2_Missense_Mutation_p.G20V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	131										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTTTCAGGTGGGGATAGCAGT	0.423			NA											5	7					5.9392e-07	7.13286e-07	0.001168	1	0
ATP2B2	491	broad.mit.edu	37	3	10401703	10401703	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:10401703G>T	uc003bvt.2	-	13	2203	c.1764C>A	c.(1762-1764)CGC>CGA	p.R588R	ATP2B2_uc003bvv.2_Silent_p.R543R|ATP2B2_uc003bvw.2_Silent_p.R543R|ATP2B2_uc010hdo.2_Silent_p.R293R	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	588	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6						GCATCTGGCTGCGCACGGGCT	0.612	Ovarian(125;1619 1709 15675 19819 38835)		NA											15	28					3.27435e-08	4.15656e-08	0.00245	1	0
PPARG	5468	broad.mit.edu	37	3	12475588	12475588	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:12475588G>A	uc003bwx.2	+	7	1553	c.1462G>A	c.(1462-1464)GAG>AAG	p.E488K	PPARG_uc003bwr.2_Missense_Mutation_p.E460K|PPARG_uc003bws.2_Missense_Mutation_p.E460K|PPARG_uc003bwu.2_Missense_Mutation_p.E460K|PPARG_uc003bwv.2_3'UTR	NM_015869	NP_056953	P37231	PPARG_HUMAN	peroxisome proliferative activated receptor	488	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|kidney(1)	2					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CAAGAAGACGGAGACAGACAT	0.512			NA	T	PAX8	follicular thyroid		Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension						4	50					0	0	0.009096	0	0
SATB1	6304	broad.mit.edu	37	3	18457572	18457572	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:18457572C>A	uc003cbh.2	-	4	2177	c.442G>T	c.(442-444)GCC>TCC	p.A148S	SATB1_uc003cbi.2_Missense_Mutation_p.A148S|SATB1_uc003cbj.2_Missense_Mutation_p.A148S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	special AT-rich sequence binding protein 1	148	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			skin(2)|ovary(1)|lung(1)	4						GCATCAGGGGCATCTGTCACG	0.408			NA											19	41					3.32936e-07	4.07847e-07	0.006122	1	0
LRRFIP2	9209	broad.mit.edu	37	3	37107762	37107762	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:37107762G>A	uc003cgp.2	-	23	1942	c.1519C>T	c.(1519-1521)CTC>TTC	p.L507F	LRRFIP2_uc011ayf.1_Intron|LRRFIP2_uc003cgr.2_Intron|LRRFIP2_uc003cgs.3_Intron|LRRFIP2_uc003cgt.3_Intron	NM_006309	NP_006300	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting	507	Potential.				Wnt receptor signaling pathway		LRR domain binding			ovary(1)	1						TCCTCTCTGAGCATATCTCGC	0.468			NA											9	95					0	0	0.008291	0	0
TTC21A	199223	broad.mit.edu	37	3	39167856	39167856	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:39167856G>T	uc003cjc.2	+	12	1698	c.1521G>T	c.(1519-1521)TTG>TTT	p.L507F	TTC21A_uc003cje.2_Missense_Mutation_p.L507F|TTC21A_uc003cjd.2_RNA|TTC21A_uc011ayx.1_Missense_Mutation_p.L458F	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A isoform 2	507	TPR 7.						binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCTGTATTTGATGGCTCAGG	0.542			NA											29	50					7.26314e-15	1.10526e-14	0.007291	1	0
KIF15	56992	broad.mit.edu	37	3	44815917	44815917	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:44815917C>T	uc003cnx.3	+	2	199	c.50C>T	c.(49-51)TCT>TTT	p.S17F	KIF15_uc010hiq.2_Intron	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	17					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AATGGTCAGTCTAACCAACCA	0.323			NA											12	7					0	0	0.001855	0	0
DAG1	1605	broad.mit.edu	37	3	49569139	49569139	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:49569139G>C	uc003cxc.3	+	3	1613	c.1195G>C	c.(1195-1197)GGC>CGC	p.G399R		NM_004393	NP_004384	Q14118	DAG1_HUMAN	dystroglycan 1 preproprotein	399	Thr-rich.|Required for laminin recognition.|Mucin-like domain.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CACAGTTCCTGGCCAGATTCG	0.587			NA											30	50					0	0	0.00632	0	0
SLMAP	7871	broad.mit.edu	37	3	57913021	57913021	+	Splice_Site	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:57913021A>G	uc003dje.1	+	22	2600	c.2395_splice	c.e22-2	p.K799_splice	SLMAP_uc003djd.1_Splice_Site_p.K782_splice|SLMAP_uc003djf.1_Splice_Site_p.K761_splice|SLMAP_uc003djg.1_Splice_Site|SLMAP_uc011bez.1_Splice_Site_p.K267_splice|SLMAP_uc011bfa.1_Splice_Site_p.K333_splice|SLMAP_uc003dji.1_Splice_Site|SLMAP_uc011bfb.1_Splice_Site_p.K333_splice|SLMAP_uc011bfc.1_Splice_Site	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	sarcolemma associated protein						muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTTTCCACACAGAAACCCTGG	0.493			NA											5	9					0	0	0.000602	0	0
COL29A1	256076	broad.mit.edu	37	3	130095284	130095284	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:130095284G>T	uc010htj.1	+	3	766	c.272G>T	c.(271-273)AGC>ATC	p.S91I	COL29A1_uc010hti.1_RNA	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	collagen, type XXIX, alpha 1	91	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen					0						AAAGGCAGAAGCCCCATGCTG	0.517			NA											11	5					3.86212e-05	4.44234e-05	0.008291	1	0
CLSTN2	64084	broad.mit.edu	37	3	140167426	140167426	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:140167426C>A	uc003etn.2	+	6	1043	c.853C>A	c.(853-855)CTG>ATG	p.L285M	CLSTN2_uc003etm.2_Missense_Mutation_p.L285M	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	285	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						CAGCATCCACCTGGAGACGTG	0.532	GBM(45;858 913 3709 36904 37282)		NA								HNSCC(16;0.037)			46	93					6.61955e-31	1.16676e-30	0.00361	1	0
SLC7A14	57709	broad.mit.edu	37	3	170198532	170198532	+	Silent	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:170198532G>C	uc003fgz.2	-	7	1855	c.1539C>G	c.(1537-1539)ACC>ACG	p.T513T	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	513						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCATGTCCACGGTGCCGTAAT	0.448			NA											74	127					0	0	0.00361	0	0
CLCN2	1181	broad.mit.edu	37	3	184071086	184071086	+	Silent	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:184071086T>C	uc003foi.2	-	17	2104	c.1980A>G	c.(1978-1980)CTA>CTG	p.L660L	CLCN2_uc003foh.2_Silent_p.L184L|CLCN2_uc010hya.1_Silent_p.L643L|CLCN2_uc011brl.1_Silent_p.L660L|CLCN2_uc011brm.1_Silent_p.L616L	NM_004366	NP_004357	P51788	CLCN2_HUMAN	chloride channel 2	660	Cytoplasmic (By similarity).					chloride channel complex	voltage-gated chloride channel activity				0	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CCTGATCAGATAGTGGAGAGG	0.597			NA											41	71					0	0	0.007835	0	0
LSG1	55341	broad.mit.edu	37	3	194390774	194390774	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:194390774C>A	uc003fui.2	-	2	505	c.190G>T	c.(190-192)GCT>TCT	p.A64S		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	64					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCTGCAGTAGCAAGGAAGTCA	0.438			NA											23	60					1.28384e-07	1.59665e-07	0.012319	1	0
SDHAP1	255812	broad.mit.edu	37	3	195692311	195692311	+	Missense_Mutation	SNP	T	T	C	rs62282793	by1000genomes	TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:195692311T>C	uc003fvy.2	-	3	346	c.232A>G	c.(232-234)AGC>GGC	p.S78G	SDHAP1_uc003fvx.3_RNA					Homo sapiens full length insert cDNA clone ZC24D06.												0						TTCCCAGTGCTGACGTCCACA	0.607	Ovarian(67;1158 1227 12109 20189 43170)		NA											4	14					0	0	0.001168	0	0
PDE6B	5158	broad.mit.edu	37	4	663834	663834	+	Splice_Site	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:663834G>A	uc003gap.2	+	22	2557	c.2504_splice	c.e22-1	p.V835_splice	PDE6B_uc003gao.3_Intron|PDE6B_uc011buy.1_Splice_Site_p.V556_splice|PDE6B_uc011buz.1_Intron	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1						cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0						TTCTCTTGCAGTAGGCACAGA	0.562	GBM(71;463 1194 9848 25922 46834)		NA											60	95					0	0	0.00361	0	0
LPHN3	23284	broad.mit.edu	37	4	62849295	62849295	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:62849295C>G	uc010ihh.2	+	16	3179	c.3006C>G	c.(3004-3006)GAC>GAG	p.D1002E	LPHN3_uc003hcq.3_Missense_Mutation_p.D1002E|LPHN3_uc003hct.2_Missense_Mutation_p.D395E	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	989	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						CTGCAGTAGACTACAGGAGTT	0.393			NA											39	91					0	0	0.007835	0	0
Unknown	0	broad.mit.edu	37	4	88814976	88814976	+	Missense_Mutation	SNP	G	G	T	rs147160765	by1000genomes	TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:88814976G>T	uc010iko.1	+	4	1603	c.1603G>T	c.(1603-1605)GCC>TCC	p.A535S						SubName: Full=Heat shock protein 90kDa alpha (Cytosolic), class B member 1, isoform CRA_a; SubName: Full=cDNA, FLJ92550, Homo sapiens heat shock 90kDa protein 1, beta (HSPCB), mRNA;												NA						GTTTGAAACCGCCCTGCTATC	0.537			NA											104	180					1.07394e-59	2.02397e-59	0.00361	1	0
ADH1C	126	broad.mit.edu	37	4	100260735	100260735	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:100260735T>A	uc003huu.2	-	10	1187	c.1102A>T	c.(1102-1104)AGT>TGT	p.S368C		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	368					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAAATCTACCTCTTTCCAGAG	0.289			NA							Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				9	14					0	0	0.006214	0	0
SPATA5	166378	broad.mit.edu	37	4	123859322	123859323	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:123859322_123859323GT>TA	uc003iez.3	+	8	1449_1450	c.1376_1377GT>TA	c.(1375-1377)TGT>TTA	p.C459L	SPATA5_uc003iey.2_Missense_Mutation_p.C458L	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	459					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity				0						GATGCACTTTGTCCGAAAAGAG	0.351			NA											28	45					0	0	0.004672	0	0
ZNF827	152485	broad.mit.edu	37	4	146791525	146791525	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:146791525C>T	uc003ikn.2	-	5	1901	c.1853G>A	c.(1852-1854)AGC>AAC	p.S618N	ZNF827_uc003ikm.2_Missense_Mutation_p.S618N|ZNF827_uc010iox.2_Missense_Mutation_p.S268N	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	618					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					AGATTCCGGGCTGAACACATA	0.522			NA											4	82					0	0	0.000602	0	0
NPY2R	4887	broad.mit.edu	37	4	156136042	156136042	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:156136042C>T	uc003ioq.2	+	2	1446	c.951C>T	c.(949-951)TCC>TCT	p.S317S	NPY2R_uc003ior.2_Silent_p.S317S	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	317	Helical; Name=7; (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)				CCATGTGCTCCACTTTTGCCA	0.522			NA											24	54					0	0	0.004656	0	0
DDX60L	91351	broad.mit.edu	37	4	169377304	169377304	+	Splice_Site	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr4:169377304C>A	uc003irq.3	-	7	945	c.724_splice	c.e7-1	p.A242_splice	DDX60L_uc003irr.1_Splice_Site_p.A242_splice|DDX60L_uc003irs.1_Splice_Site	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like								ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)	1		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTGATACGCCTATCAAAAAA	0.348			NA											5	9					0.000602214	0.000667613	0.000602	1	0
CLPTM1L	81037	broad.mit.edu	37	5	1323018	1323018	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:1323018G>T	uc003jch.2	-	13	1335	c.1289C>A	c.(1288-1290)TCC>TAC	p.S430Y	CLPTM1L_uc003jcg.2_Missense_Mutation_p.S261Y	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	CLPTM1-like	430	Helical; (Potential).				apoptosis	integral to membrane				breast(1)|central_nervous_system(1)	2	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GATTAACCAGGAGTACCAGCT	0.373			NA											82	85					9.72016e-57	1.81789e-56	0.00361	1	0
CDH9	1007	broad.mit.edu	37	5	26988295	26988295	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:26988295C>A	uc003jgs.1	-	2	315	c.146G>T	c.(145-147)CGT>CTT	p.R49L	CDH9_uc010iug.2_Missense_Mutation_p.R49L	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 preproprotein	49					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						CTTGGTGCGACGTAGCATTTT	0.393	Melanoma(8;187 585 15745 40864 52829)		NA											15	45					2.32078e-09	3.09018e-09	0.003163	1	0
C9	735	broad.mit.edu	37	5	39316014	39316014	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:39316014G>T	uc003jlv.3	-	6	822	c.733C>A	c.(733-735)CCC>ACC	p.P245T		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	245	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GTTTCAGTGGGTGTAAATTTT	0.333			NA											20	65					1.01871e-10	1.39433e-10	0.008871	1	0
C7	730	broad.mit.edu	37	5	40955608	40955608	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:40955608G>T	uc003jmh.2	+	10	1327	c.1213G>T	c.(1213-1215)GCC>TCC	p.A405S	C7_uc011cpn.1_RNA	NM_000587	NP_000578	P10643	CO7_HUMAN	complement component 7 precursor	405	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex					0		Ovarian(839;0.0112)				GCGATATTCTGCCTGGGCAGA	0.448			NA											77	83					2.43199e-30	4.25598e-30	0.00361	1	0
HCN1	348980	broad.mit.edu	37	5	45262540	45262540	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:45262540T>C	uc003jok.2	-	8	2181	c.2156A>G	c.(2155-2157)TAT>TGT	p.Y719C		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	719	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						GGGGGAGGCATAGTGGAAAGT	0.448			NA											29	26					0	0	0.007291	0	0
GZMK	3003	broad.mit.edu	37	5	54326372	54326372	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:54326372T>A	uc003jpl.1	+	3	367	c.323T>A	c.(322-324)GTT>GAT	p.V108D		NM_002104	NP_002095	P49863	GRAK_HUMAN	granzyme K precursor	108	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity				0		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTCTCAAGAGTTACATCAGAT	0.398			NA											32	52					0	0	0.012213	0	0
WDR41	55255	broad.mit.edu	37	5	76736805	76736805	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:76736805C>T	uc003kff.1	-	9	1002	c.715G>A	c.(715-717)GGC>AGC	p.G239S	WDR41_uc011csy.1_Missense_Mutation_p.G181S|WDR41_uc011csz.1_Missense_Mutation_p.G184S|WDR41_uc011cta.1_RNA|WDR41_uc011ctb.1_RNA	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	239	WD 4.										0		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		ACGTGGGAGCCGGTGACAAAA	0.463			NA											6	49					0	0	0.001984	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102465308	102465308	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:102465308C>T	uc003kod.3	+	2	534	c.15C>T	c.(13-15)CCC>CCT	p.P5P	PPIP5K2_uc011cva.1_RNA|PPIP5K2_uc003koe.2_Silent_p.P5P|PPIP5K2_uc010jbo.1_Intron	NM_015216	NP_056031	O43314	VIP2_HUMAN	Histidine acid phosphatase domain containing 1	5					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			ovary(1)|skin(1)	2						GTGAAGCCCCCAGATTCTTCG	0.343			NA											8	7					0	0	0.00308	0	0
SLC6A7	6534	broad.mit.edu	37	5	149574475	149574475	+	Splice_Site	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:149574475G>T	uc003lrr.2	+	2	588	c.217_splice	c.e2+1	p.G73_splice		NM_014228	NP_055043	Q99884	SC6A7_HUMAN	solute carrier family 6, member 7							integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity				0		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	AATGGAGGAGGTATGGGCCTG	0.602			NA											20	74					4.54149e-19	7.56914e-19	0.002299	1	0
KIF4B	285643	broad.mit.edu	37	5	154396339	154396339	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:154396339C>A	uc010jih.1	+	1	3080	c.2920C>A	c.(2920-2922)CGA>AGA	p.R974R		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	974	Interaction with PRC1 (By similarity).|Potential.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAGAAGATGCGAGAAGTGTG	0.463			NA											21	94					4.35082e-09	5.76189e-09	0.010504	1	0
C5orf54	63920	broad.mit.edu	37	5	159821008	159821008	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:159821008T>G	uc003lye.1	-	2	1954	c.1490A>C	c.(1489-1491)GAA>GCA	p.E497A	C5orf54_uc003lyf.1_Missense_Mutation_p.E497A	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	497										pancreas(1)	1						agctcgtaattcagcaagatc	0			NA											4	68					0	0	0.009096	0	0
ATP10B	23120	broad.mit.edu	37	5	160097648	160097648	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:160097648C>A	uc003lym.1	-	7	1344	c.497G>T	c.(496-498)TGC>TTC	p.C166F	ATP10B_uc003lyp.2_Missense_Mutation_p.C166F|ATP10B_uc011deg.1_Missense_Mutation_p.C210F|ATP10B_uc003lyo.2_Missense_Mutation_p.C138F	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	166	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCCTTCCAGCACTTCTGCAC	0.458			NA											28	96					5.90632e-09	7.73823e-09	0.012213	1	0
CDHR2	54825	broad.mit.edu	37	5	176012970	176012970	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:176012970C>A	uc003mem.1	+	20	2816	c.2750C>A	c.(2749-2751)ACC>AAC	p.T917N	CDHR2_uc003men.1_Missense_Mutation_p.T917N	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	917	Extracellular (Potential).|Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2						CTCCTCATTACCATTGAGGAC	0.408			NA											18	74					1.50039e-11	2.10055e-11	0.012319	1	0
BTN3A2	11118	broad.mit.edu	37	6	26368879	26368879	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr6:26368879A>G	uc010jqh.1	+	4	431	c.172A>G	c.(172-174)ATG>GTG	p.M58V	BTN3A2_uc003nho.1_Missense_Mutation_p.M56V|BTN3A2_uc003nhp.2_Missense_Mutation_p.M58V|BTN3A2_uc011dkd.1_Missense_Mutation_p.M16V|BTN3A2_uc011dke.1_Missense_Mutation_p.M35V|BTN3A2_uc010jqi.1_Missense_Mutation_p.M56V	NM_007047	NP_008978	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2 precursor	58	Ig-like V-type.|Extracellular (Potential).					integral to membrane					0						GTTCCCGACCATGAGTGCAGA	0.562			NA											43	168					0	0	0.00361	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834657	27834657	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr6:27834657C>G	uc003njx.2	-	1	703	c.651G>C	c.(649-651)AAG>AAC	p.K217N		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	217				Missing (in Ref. 5; AA sequence).	nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3						CCTTCTTGGCCTTTGCAGCTT	0.527			NA											17	24					0	0	0.00499	0	0
GRM4	2914	broad.mit.edu	37	6	34008365	34008365	+	Silent	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr6:34008365G>C	uc003oir.3	-	6	1499	c.1329C>G	c.(1327-1329)GGC>GGG	p.G443G	GRM4_uc011dsn.1_Silent_p.G396G|GRM4_uc010jvh.2_Silent_p.G443G|GRM4_uc010jvi.2_Silent_p.G135G|GRM4_uc003oio.2_Silent_p.G135G|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.G303G|GRM4_uc003oiq.2_Silent_p.G310G|GRM4_uc011dsm.1_Silent_p.G274G	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	443	Extracellular (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	GCAGCTGGGTGCCATCTACAG	0.657			NA											13	26					0	0	0.001855	0	0
UBR2	23304	broad.mit.edu	37	6	42541664	42541664	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr6:42541664C>G	uc011dur.1	+	2	271	c.271C>G	c.(271-273)CAA>GAA	p.Q91E	UBR2_uc003osf.2_Missense_Mutation_p.Q91E	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin	91					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			ovary(3)|pancreas(1)	4	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAACTTGAGCAAGCAAACAA	0.398			NA											26	65					0	0	0.005443	0	0
INTS1	26173	broad.mit.edu	37	7	1526614	1526614	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:1526614A>G	uc003skn.2	-	21	2871	c.2770T>C	c.(2770-2772)TCC>CCC	p.S924P	INTS1_uc003skp.1_Missense_Mutation_p.S271P	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	924					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTCCCCGGAAGCAGCATCG	0.687			NA											3	14					0	0	0.004672	0	0
SNX8	29886	broad.mit.edu	37	7	2297100	2297100	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:2297100G>A	uc003slw.2	-	9	1077	c.1034C>T	c.(1033-1035)GCC>GTC	p.A345V		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	345					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CTTGTGCAGGGCCCGCTGGTG	0.672			NA											6	4					0	0	0.001168	0	0
ABCB5	340273	broad.mit.edu	37	7	20668317	20668317	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:20668317T>C	uc010kuh.2	+	4	352	c.115T>C	c.(115-117)TTT>CTT	p.F39L		NM_001163941	NP_001157413	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	692	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						TCAGTTCCGCTTTGCTGATGG	0.473			NA											15	15					0	0	0.00245	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35142594	35142594	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:35142594A>T	uc003teq.1	-	19	2069	c.962T>A	c.(961-963)ATA>AAA	p.I321K	DPY19L2P1_uc003tep.1_Intron|DPY19L2P1_uc010kwz.1_RNA					RecName: Full=Protein dpy-19 homolog 2-like 2; AltName: Full=Dpy-19-like protein 2 pseudogene 2;												0						AAATTCTCCTATTATGCTCCA	0.348			NA											24	30					0	0	0.003954	0	0
ABCA13	154664	broad.mit.edu	37	7	48619942	48619942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:48619942G>T	uc003toq.2	+	56	14502	c.14477G>T	c.(14476-14478)CGC>CTC	p.R4826L	ABCA13_uc010kys.1_Missense_Mutation_p.R1901L|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.R556L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4826	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TGTAGCTTACGCGGGATTCCA	0.547			NA											5	14					0.000602214	0.000667613	0.000602	1	0
LEP	3952	broad.mit.edu	37	7	127894809	127894809	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:127894809G>T	uc003vml.2	+	3	554	c.497G>T	c.(496-498)GGG>GTG	p.G166V	LEP_uc003vmm.2_Missense_Mutation_p.G165V	NM_000230	NP_000221	P41159	LEP_HUMAN	leptin precursor	166					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space					0						CTCAGCCCTGGGTGCTGAGGC	0.577			NA											13	18					9.05144e-12	1.27448e-11	0.001855	1	0
PRSS1	5644	broad.mit.edu	37	7	142460320	142460320	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:142460320G>T	uc003wak.2	+	4	510	c.493G>T	c.(493-495)GTG>TTG	p.V165L	uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.V105L	NM_002769	NP_002760	P07477	TRY1_HUMAN	protease, serine, 1 preproprotein	165	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			large_intestine(1)|central_nervous_system(1)	2	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGATGCTCCTGTGCTGAGCCA	0.532			NA							Hereditary_Pancreatitis				15	332					0.00400662	0.0044019	0.004007	1	0
EPHB6	2051	broad.mit.edu	37	7	142562336	142562336	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:142562336G>T	uc011kst.1	+	7	1565	c.778G>T	c.(778-780)GGC>TGC	p.G260C	EPHB6_uc011ksu.1_Missense_Mutation_p.G260C|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR|EPHB6_uc003wbv.2_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	ephrin receptor EphB6 precursor	260	Extracellular (Potential).|Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19	Melanoma(164;0.059)					GGCAGCTGTGGGCACCTGTGT	0.667			NA											41	77					5.44703e-19	8.95652e-19	0.009718	1	0
OR2A12	346525	broad.mit.edu	37	7	143792935	143792935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr7:143792935C>A	uc011kty.1	+	1	735	c.735C>A	c.(733-735)TGC>TGA	p.C245*		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	245	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					CCCACCTCTGCGTGGTGGGGC	0.562			NA											61	91					5.86059e-21	9.90237e-21	0.00361	1	0
UNC5D	137970	broad.mit.edu	37	8	35631947	35631947	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:35631947C>A	uc003xjr.1	+	16	2937	c.2609C>A	c.(2608-2610)GCC>GAC	p.A870D	UNC5D_uc003xjs.1_Missense_Mutation_p.A865D|UNC5D_uc003xju.1_Missense_Mutation_p.A446D	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	870	Death.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACCCCCAATGCCAAAGGCAAG	0.473			NA											13	55					0.000151284	0.000170805	0.001855	1	0
SNTG1	54212	broad.mit.edu	37	8	51571204	51571204	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:51571204T>C	uc010lxy.1	+	16	1390	c.1019T>C	c.(1018-1020)ATT>ACT	p.I340T	SNTG1_uc003xqs.1_Missense_Mutation_p.I340T|SNTG1_uc010lxz.1_Missense_Mutation_p.I340T|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	340	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GTTTATGAGATTATGTGCAAG	0.358			NA											19	41					0	0	0.00333	0	0
TGS1	96764	broad.mit.edu	37	8	56699163	56699163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:56699163G>T	uc003xsj.3	+	4	1093	c.706G>T	c.(706-708)GAA>TAA	p.E236*	TGS1_uc010lyh.2_Nonsense_Mutation_p.E140*	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase homolog	236					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			ovary(1)|lung(1)|breast(1)	3		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TACAAAGGAAGAATGGGAGCA	0.408	Esophageal Squamous(34;275 823 4842 34837 48447)		NA											29	91					2.47511e-08	3.15834e-08	0.008361	1	0
NOV	4856	broad.mit.edu	37	8	120431548	120431548	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:120431548G>T	uc003yoq.2	+	4	961	c.740G>T	c.(739-741)CGG>CTG	p.R247L		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	247	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCATGGTGCGGCCCTGTGAA	0.562			NA											34	92					5.8336e-16	8.98888e-16	0.003271	1	0
WISP1	8840	broad.mit.edu	37	8	134237699	134237699	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:134237699G>T	uc003yub.2	+	4	753	c.677G>T	c.(676-678)TGC>TTC	p.C226F	WISP1_uc003yuc.2_Missense_Mutation_p.C139F|WISP1_uc010meb.2_Missense_Mutation_p.C54F|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron	NM_003882	NP_003873	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	226	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|kidney(1)	2	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TGGAGCCCTTGCTCCACCAGC	0.597			NA											27	115					1.30897e-18	2.10986e-18	0.009535	1	0
ZNF623	9831	broad.mit.edu	37	8	144733134	144733134	+	Silent	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:144733134G>A	uc003yzd.2	+	1	1181	c.1092G>A	c.(1090-1092)CAG>CAA	p.Q364Q	ZNF623_uc011lkp.1_Silent_p.Q324Q|ZNF623_uc003yzc.2_Silent_p.Q324Q	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	364	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTTCACCCAGCATCAGAGAA	0.458			NA											16	51					0	0	0.004007	0	0
KIFC2	90990	broad.mit.edu	37	8	145694127	145694127	+	Silent	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr8:145694127C>T	uc003zcz.2	+	10	1088	c.1023C>T	c.(1021-1023)GCC>GCT	p.A341A		NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	341	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CACGGATGGCCAGCCTGCGTC	0.662			NA											45	141					0	0	0.00361	0	0
NFX1	4799	broad.mit.edu	37	9	33364014	33364014	+	Silent	SNP	A	A	G			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr9:33364014A>G	uc003zsq.2	+	20	2941	c.2880A>G	c.(2878-2880)TTA>TTG	p.L960L	SUGT1P1_uc010mjq.1_Intron|NFX1_uc003zsp.1_Silent_p.L960L|NFX1_uc010mjr.1_Silent_p.L961L|NFX1_uc003zsr.2_Silent_p.L961L	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	960					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCAGGAGATTAGCAGAGGCAT	0.393			NA											10	21					0	0	0.010729	0	0
GDA	9615	broad.mit.edu	37	9	74810477	74810477	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr9:74810477C>A	uc004aiq.2	+	2	368	c.185C>A	c.(184-186)CCG>CAG	p.P62Q	GDA_uc011lse.1_5'UTR|GDA_uc011lsf.1_5'UTR|GDA_uc004air.2_Missense_Mutation_p.P62Q|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.P20Q|GDA_uc004ait.1_5'UTR	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	62					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGCTTCAAGCCGTGTGAAATA	0.358			NA											3	21					0.00024832	0.000277801	0.009096	1	0
PHF2	5253	broad.mit.edu	37	9	96416754	96416754	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr9:96416754C>A	uc004aub.2	+	7	996	c.849C>A	c.(847-849)CGC>CGA	p.R283R	PHF2_uc011lug.1_Silent_p.R166R	NM_005392	NP_005383	O75151	PHF2_HUMAN	PHD finger protein 2	283	JmjC.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGTATGAGCGCTGGCGGTCTG	0.577			NA											4	89					0.00909568	0.00986036	0.009096	1	0
TBL1X	6907	broad.mit.edu	37	X	9652091	9652091	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:9652091C>A	uc010ndq.2	+	6	588	c.220C>A	c.(220-222)CAC>AAC	p.H74N	TBL1X_uc004csq.3_Missense_Mutation_p.H23N|TBL1X_uc010ndr.2_Missense_Mutation_p.H23N|TBL1X_uc004csr.2_Missense_Mutation_p.H74N|TBL1X_uc004css.2_Missense_Mutation_p.H25N	NM_001139466	NP_001132938	O60907	TBL1X_HUMAN	transducin beta-like 1X isoform a	74	LisH.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Hepatocellular(5;0.000888)				AGGTTTTTCCCACTCGGCTTT	0.562			NA											23	69					5.35356e-11	7.36866e-11	0.00278	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260721	30260721	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:30260721C>A	uc004dcb.2	+	1	553	c.469C>A	c.(469-471)CGC>AGC	p.R157S	MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	157	MAGE.									ovary(1)	1						AGTCTCTCAGCGCACGGAGCT	0.502			NA											9	18					0.00448238	0.0049026	0.004482	1	0
ZNF674	641339	broad.mit.edu	37	X	46359634	46359634	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:46359634T>A	uc004dgr.2	-	6	1617	c.1390A>T	c.(1390-1392)ACA>TCA	p.T464S	ZNF674_uc011mlg.1_Missense_Mutation_p.T458S	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	zinc finger family member 674 isoform 1	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TTCTCTCCTGTATGCATTCTC	0.418			NA											7	73					0	0	0.004482	0	0
ZNF674	641339	broad.mit.edu	37	X	46359636	46359636	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:46359636T>A	uc004dgr.2	-	6	1615	c.1388A>T	c.(1387-1389)CAT>CTT	p.H463L	ZNF674_uc011mlg.1_Missense_Mutation_p.H457L	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	zinc finger family member 674 isoform 1	463	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						CTCTCCTGTATGCATTCTCTG	0.423			NA											7	73					0	0	0.004482	0	0
SLC38A5	92745	broad.mit.edu	37	X	48324401	48324401	+	Splice_Site	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:48324401C>T	uc010nid.2	-	8	669	c.491_splice	c.e8+1	p.G164_splice	SLC38A5_uc004djk.3_Splice_Site_p.G113_splice	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				ovary(3)	3						TGCTCACTCACCCCTCGGGGT	0.592			NA									OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	14					0	0	0.00308	0	0
GAGE10	643832	broad.mit.edu	37	X	49161404	49161404	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:49161404G>T	uc010nir.1	+	2	182	c.66G>T	c.(64-66)ATG>ATT	p.M22I		NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN	G antigen 10	22											0	Ovarian(276;0.236)					CCCCTGAAATGATTGGGCCTA	0.408			NA											64	303					5.80444e-35	1.06126e-34	0.00361	1	0
MAGED1	9500	broad.mit.edu	37	X	51638238	51638238	+	Silent	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:51638238C>A	uc004dpm.2	+	3	230	c.135C>A	c.(133-135)GCC>GCA	p.A45A	MAGED1_uc004dpn.2_Silent_p.A101A|MAGED1_uc004dpo.2_Silent_p.A45A|MAGED1_uc011mnx.1_Silent_p.A45A	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1 isoform b	45					apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			ovary(3)	3	Ovarian(276;0.236)					CTAACCAGGCCACCGCAGCTG	0.562			NA								Multiple Myeloma(10;0.10)			12	40					0.000151284	0.000170805	0.001855	1	0
MAGED2	10916	broad.mit.edu	37	X	54837315	54837315	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:54837315C>T	uc004dtk.1	+	4	693	c.599C>T	c.(598-600)ACA>ATA	p.T200I	MAGED2_uc004dtl.1_Missense_Mutation_p.T200I|MAGED2_uc004dtm.1_Missense_Mutation_p.T162I|MAGED2_uc010nkc.1_Missense_Mutation_p.T200I|MAGED2_uc004dtn.1_Missense_Mutation_p.T200I|MAGED2_uc004dto.1_Missense_Mutation_p.T174I	NM_177433	NP_803182	Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	200										ovary(2)|breast(1)	3						TCTGGAACCACAGGTGGCCGA	0.577			NA											9	29					0	0	0.008291	0	0
EDA2R	60401	broad.mit.edu	37	X	65824988	65824988	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:65824988G>T	uc004dwq.2	-	2	179	c.168C>A	c.(166-168)CAC>CAA	p.H56Q	EDA2R_uc004dwr.2_Missense_Mutation_p.H56Q|EDA2R_uc004dws.2_Missense_Mutation_p.H56Q|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Missense_Mutation_p.H56Q|EDA2R_uc004dwt.1_Missense_Mutation_p.H56Q	NM_021783	NP_068555	Q9HAV5	TNR27_HUMAN	X-linked ectodysplasin receptor	56	Extracellular (Potential).|TNFR-Cys 2.				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			upper_aerodigestive_tract(1)	1						TCTGACATCTGTGGTGGCCCC	0.542			NA											12	28					2.68362e-12	3.91361e-12	0.001368	1	0
KIF4A	24137	broad.mit.edu	37	X	69516981	69516981	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:69516981C>A	uc004dyg.2	+	4	496	c.369C>A	c.(367-369)TTC>TTA	p.F123L	KIF4A_uc010nkw.2_Missense_Mutation_p.F123L|KIF4A_uc004dyf.1_Missense_Mutation_p.F123L	NM_012310	NP_036442	O95239	KIF4A_HUMAN	kinesin family member 4	123	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			ovary(4)	4						AACTGCTCTTCAAAGAAATTG	0.353			NA											15	43					1.52009e-12	2.23007e-12	0.003163	1	0
ITGB1BP2	26548	broad.mit.edu	37	X	70524814	70524814	+	Splice_Site	SNP	G	G	C			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:70524814G>C	uc004dzr.1	+	11	846	c.817_splice	c.e11-1	p.V273_splice	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Splice_Site_p.V255_splice	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein 2						muscle organ development|signal transduction		SH3 domain binding			ovary(1)	1	Renal(35;0.156)					CTCCTCCTCAGGTCATAAACG	0.498			NA											17	39					0	0	0.00499	0	0
ERCC6L	54821	broad.mit.edu	37	X	71428457	71428457	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:71428457C>A	uc004eaq.1	-	2	257	c.160G>T	c.(160-162)GAA>TAA	p.E54*	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_5'UTR	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	54	TPR 1.				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)					AGCACTTTTTCATTGGGAAAA	0.398			NA											16	39					6.31663e-08	7.97718e-08	0.003163	1	0
PHKA1	5255	broad.mit.edu	37	X	71838660	71838660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:71838660G>A	uc004eax.3	-	21	2570	c.2269C>T	c.(2269-2271)CAG>TAG	p.Q757*	PHKA1_uc004eay.3_Nonsense_Mutation_p.Q757*|PHKA1_uc011mqi.1_Nonsense_Mutation_p.Q698*	NM_002637	NP_002628	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle) isoform	757					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			ovary(3)|skin(1)	4	Renal(35;0.156)					TCCCCAGACTGGTCTCTAGGA	0.388			NA											27	79					0	0	0.00632	0	0
LPAR4	2846	broad.mit.edu	37	X	78010545	78010545	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:78010545C>A	uc010nme.2	+	2	584	c.179C>A	c.(178-180)TCT>TAT	p.S60Y		NM_005296	NP_005287	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	60	Helical; Name=1; (Potential).					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			ovary(3)	3						AACAGTGTCTCTCTGTTTGTC	0.383			NA											82	178					1.52223e-32	2.76257e-32	0.00361	1	0
ZNF711	7552	broad.mit.edu	37	X	84526494	84526494	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:84526494G>T	uc004eeo.2	+	9	2293	c.1946G>T	c.(1945-1947)TGC>TTC	p.C649F	ZNF711_uc004eep.2_Missense_Mutation_p.C649F|ZNF711_uc004eeq.2_Missense_Mutation_p.C695F|ZNF711_uc011mqy.1_Missense_Mutation_p.C248F	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	649	C2H2-type 9.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4						ATTCATCAGTGCAGGCACTGT	0.388			NA											12	34					0.00136819	0.00150994	0.001368	1	0
PCDH19	57526	broad.mit.edu	37	X	99663476	99663476	+	Silent	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:99663476G>A	uc010nmz.2	-	1	1796	c.120C>T	c.(118-120)GCC>GCT	p.A40A	PCDH19_uc004efw.3_Silent_p.A40A|PCDH19_uc004efx.3_Silent_p.A40A	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	40	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						TGGCCACGTTGGCAATCACCG	0.642			NA											4	15					0	0	0.001168	0	0
SEPT6	23157	broad.mit.edu	37	X	118763453	118763453	+	Missense_Mutation	SNP	G	G	T	rs150468538		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:118763453G>T	uc004erv.2	-	9	1373	c.1108C>A	c.(1108-1110)CGT>AGT	p.R370S	SEPT6_uc010nqk.2_RNA|SEPT6_uc004ers.2_Missense_Mutation_p.R370S|SEPT6_uc004ert.2_Missense_Mutation_p.R370S|SEPT6_uc004eru.2_Missense_Mutation_p.R370S|SEPT6_uc004erw.2_Missense_Mutation_p.R312S|SEPT6_uc011mtv.1_Missense_Mutation_p.R312S|SEPT6_uc011mtw.1_Missense_Mutation_p.R400S	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	septin 6 isoform B	370	Potential.				cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			lung(1)|ovary(1)|prostate(1)|kidney(1)	4						TTCTTCAGACGGTCAAACTTC	0.542			NA											19	61					1.00905e-13	1.50742e-13	0.008871	1	0
MBNL3	55796	broad.mit.edu	37	X	131524889	131524889	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:131524889C>A	uc004ewv.3	-	4	836	c.757G>T	c.(757-759)GCT>TCT	p.A253S	uc004ewr.1_Intron|MBNL3_uc004eww.2_Missense_Mutation_p.A157S|MBNL3_uc004ews.2_Missense_Mutation_p.A157S|MBNL3_uc004ewt.2_Missense_Mutation_p.A203S|MBNL3_uc011muz.1_Missense_Mutation_p.A157S|MBNL3_uc004ewu.3_Missense_Mutation_p.A253S|MBNL3_uc004ewx.1_Missense_Mutation_p.A203S	NM_018388	NP_060858	Q9NUK0	MBNL3_HUMAN	muscleblind-like 3 isoform G	253					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)					GCAGAGGCAGCTGAATGGTTC	0.458			NA											38	74					4.0492e-12	5.87014e-12	0.006999	1	0
CT45A5	441521	broad.mit.edu	37	X	134948092	134948092	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:134948092C>A	uc004eze.2	-	3	478	c.233G>T	c.(232-234)GGT>GTT	p.G78V	CT45A5_uc011mvu.1_Missense_Mutation_p.G78V	NM_001007551	NP_001007552	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	78											0						TTTGCTGAAACCAGTGAAGTC	0.448			NA											9	546					1.12685e-05	1.31466e-05	0.004482	1	0
SLC9A6	10479	broad.mit.edu	37	X	135095108	135095108	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:135095108G>T	uc004ezj.2	+	8	1022	c.946G>T	c.(946-948)GTG>TTG	p.V316L	SLC9A6_uc004ezk.2_Missense_Mutation_p.V348L	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	316					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ACAGTCTTACGTGACAAAGTT	0.423			NA											56	147					5.19286e-32	9.2865e-32	0.00361	1	0
MAGEA8	4107	broad.mit.edu	37	X	149013681	149013681	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:149013681T>A	uc004fdw.1	+	3	850	c.635T>A	c.(634-636)ATC>AAC	p.I212N		NM_005364	NP_005355	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	212	MAGE.										0	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGCATGATCTTAATGGAG	0.572			NA											31	78					0	0	0.012213	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639102	149639102	+	Silent	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:149639102G>A	uc004fee.1	+	3	1333	c.1257G>A	c.(1255-1257)CCG>CCA	p.P419P	MAMLD1_uc011mxt.1_Silent_p.P381P|MAMLD1_uc011mxu.1_Silent_p.P394P|MAMLD1_uc011mxv.1_Silent_p.P394P|MAMLD1_uc011mxw.1_Silent_p.P346P	NM_005491	NP_005482	Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	419					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAACAGCCGCAGTTCGGCC	0.592			NA											73	187					0	0	0.00361	0	0
GABRA3	2556	broad.mit.edu	37	X	151358252	151358252	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:151358252G>A	uc010ntk.1	-	9	1333	c.1093C>T	c.(1093-1095)CGG>TGG	p.R365W		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	365	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCCAACTCCGCTTGGTGAAA	0.493	NSCLC(142;2578 2613 10251 16743)		NA											9	111					0	0	0.004482	0	0
L1CAM	3897	broad.mit.edu	37	X	153128982	153128982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:153128982C>A	uc004fjb.2	-	26	3588	c.3480G>T	c.(3478-3480)CAG>CAT	p.Q1160H	L1CAM_uc004fjc.2_Missense_Mutation_p.Q1160H|L1CAM_uc010nuo.2_Missense_Mutation_p.Q1155H	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	1160	Cytoplasmic (Potential).				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTCCACCTGGGTGTCCT	0.652			NA											13	28					7.93312e-07	9.48105e-07	0.00245	1	0
ARHGAP4	393	broad.mit.edu	37	X	153178193	153178193	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:153178193G>T	uc004fjk.1	-	12	1545	c.1503C>A	c.(1501-1503)AAC>AAA	p.N501K	ARHGAP4_uc004fjj.1_5'Flank|ARHGAP4_uc011mzf.1_Missense_Mutation_p.N478K|ARHGAP4_uc004fjl.1_Missense_Mutation_p.N541K|ARHGAP4_uc010nup.1_RNA	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4 isoform 2	501					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTCTCTGGTTATACTGGG	0.562			NA											36	125					5.04308e-16	7.81996e-16	0.00623	1	0
HCFC1	3054	broad.mit.edu	37	X	153229610	153229610	+	Silent	SNP	G	G	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:153229610G>T	uc004fjp.2	-	3	996	c.468C>A	c.(466-468)GCC>GCA	p.A156A		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	156	Kelch 3.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTATCATTGGCCAGACCCC	0.572			NA											40	86					3.61848e-18	5.7943e-18	0.007835	1	0
BRCC3	79184	broad.mit.edu	37	X	154348318	154348318	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chrX:154348318C>T	uc004fna.2	+	11	937	c.844C>T	c.(844-846)CCT>TCT	p.P282S	BRCC3_uc004fnb.2_Missense_Mutation_p.P257S	NM_024332	NP_077308	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	282					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(3)|ovary(1)|large_intestine(1)|breast(1)	6	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGTCAGCGGGCCTCTCCTACA	0.428			NA											22	50					0	0	0.012319	0	0
SPRR3	6707	broad.mit.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs72704847	byFrequency	TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	-	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	uc001fax.3	+	3	460_483	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)CCAGGCTACACCAAGGTCCCTGAAdel	p.PGYTKVPE104del	SPRR3_uc001faz.3_In_Frame_Del_p.PGYTKVPE104del|SPRR3_uc001fay.2_In_Frame_Del_p.PGYTKVPE96del	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104_111	9.|14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			skin(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567			NA											17	79	---	---	---	---	NA	NA	NA	NA	NA
OR2L8	391190	broad.mit.edu	37	1	248112595	248112595	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr1:248112595delG	uc001idt.1	+	1	436	c.436delG	c.(436-438)GGGfs	p.G146fs	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GATGATAACAGGGTCTTGGAT	0.433			NA											118	107	---	---	---	---	NA	NA	NA	NA	NA
STK11	6794	broad.mit.edu	37	19	1221226	1221226	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:1221226delC	uc002lrl.1	+	6	1864	c.749delC	c.(748-750)ACGfs	p.T250fs		NM_000455	NP_000446	Q15831	STK11_HUMAN	serine/threonine protein kinase 11	250	Protein kinase.		T -> P (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(19)|p.?(2)|p.Y246fs*3(1)		lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		AACATCACCACGGGTCTGTAC	0.592			14	D|Mis|N|F|S		NSCLC|pancreatic	jejunal harmartoma|ovarian|testicular|pancreatic			Peutz-Jeghers_syndrome	TSP Lung(3;<1E-08)			14	11	---	---	---	---	NA	NA	NA	NA	NA
KEAP1	9817	broad.mit.edu	37	19	10602611	10602612	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr19:10602611_10602612insA	uc002moq.1	-	3	1122_1123	c.966_967insT	c.(964-969)CCCAAGfs	p.P322fs	KEAP1_uc002mop.1_Frame_Shift_Ins_p.P40fs|KEAP1_uc002mor.1_Frame_Shift_Ins_p.P322fs	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	322_323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGGCCCACCTTGGGCGCCCGGC	0.649			NA											12	31	---	---	---	---	NA	NA	NA	NA	NA
GPR149	344758	broad.mit.edu	37	3	154146739	154146739	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr3:154146739delC	uc003faa.2	-	1	766	c.666delG	c.(664-666)CCGfs	p.P222fs		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	222	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGAGTCTCGGCGGCTCCTCCG	0.577			NA											33	71	---	---	---	---	NA	NA	NA	NA	NA
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	CAC	CAC	-	-	CAC	CAC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr5:1038447_1038449delCAC	uc003jbt.1	+	10	1320_1322	c.1315_1317delCAC	c.(1315-1317)CACdel	p.H447del	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	naked cuticle homolog 2	447	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding				0	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.522			NA											3	5	---	---	---	---	NA	NA	NA	NA	NA
TAF11	6882	broad.mit.edu	37	6	34846380	34846381	+	Frame_Shift_Ins	INS	-	-	T	rs139408667		TCGA-55-6970-01A-11D-1945-08	TCGA-55-6970-11A-01D-1945-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8e068c22-e821-49e5-b7f3-d71b9179513e	10b141f3-4486-4931-b615-a05c63f4bea5	g.chr6:34846380_34846381insT	uc003ojw.1	-	5	707_708	c.622_623insA	c.(622-624)ATCfs	p.I208fs	UHRF1BP1_uc010jvm.1_Intron|TAF11_uc011dsr.1_3'UTR	NM_005643	NP_005634	Q15544	TAF11_HUMAN	TBP-associated factor 11	208					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding				0						GAAGAAGATGATTTTTTTGTGC	0.421			NA											10	130	---	---	---	---	NA	NA	NA	NA	NA
