Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
SFRS4	6429	broad.mit.edu	37	1	29508253	29508253	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:29508253C>T	uc001bro.2	-	1	385	c.12G>A	c.(10-12)GTG>GTA	p.V4V	SFRS4_uc010ofy.1_Silent_p.V4V|SFRS4_uc009vtp.2_RNA	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	4	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		GGCCGATGTACACCCGCGGCA	0.612		NA											5	36					0	0	0	0
GRIK3	2899	broad.mit.edu	37	1	37346378	37346378	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:37346378C>T	uc001caz.2	-	3	542	c.407G>A	c.(406-408)CGT>CAT	p.R136H	GRIK3_uc001cba.1_Missense_Mutation_p.R136H	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	136	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTGCTTCCAACGCAGCTGGAT	0.622		NA											4	84					0	0	0	0
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:109369904T>C	uc001dwa.2	-	11	2128	c.1859A>G	c.(1858-1860)AAG>AGG	p.K620R	AKNAD1_uc010ovb.1_Missense_Mutation_p.K327R|AKNAD1_uc001dwb.2_RNA	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	hypothetical protein LOC254268	620										ovary(3)	3						TCCGTGGCCCTTTTTCTCCAC	0.413		NA											3	185					0	0	0	0
FCRL4	83417	broad.mit.edu	37	1	157551405	157551405	+	Missense_Mutation	SNP	C	C	T	rs143188744	byFrequency	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:157551405C>T	uc001fqw.2	-	7	1301	c.1165G>A	c.(1165-1167)GCC>ACC	p.A389T	FCRL4_uc010phy.1_RNA	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4 precursor	389	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(2)|kidney(1)|skin(1)	4	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTCCCGCGGCGACAAGGCCA	0.572		NA											5	21					0	0	0	0
HMCN1	83872	broad.mit.edu	37	1	186106021	186106021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:186106021C>T	uc001grq.1	+	87	13763	c.13534C>T	c.(13534-13536)CGA>TGA	p.R4512*	HMCN1_uc001grs.1_Nonsense_Mutation_p.R81*	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4512	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						ATGTGTTGCTCGAAACTTAAT	0.428		NA											29	71					0	0	0	0
DEGS1	8560	broad.mit.edu	37	1	224377307	224377307	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:224377307G>A	uc001hoj.2	+	2	222	c.111G>A	c.(109-111)ATG>ATA	p.M37I	DEGS1_uc001hoi.2_Missense_Mutation_p.M16I	NM_144780	NP_659004	O15121	DEGS1_HUMAN	degenerative spermatocyte homolog 1, lipid	37					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity				0	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		AGTCCTTGATGAAACCTGATC	0.313		NA											12	63					0	0	0	0
OBSCN	84033	broad.mit.edu	37	1	228468013	228468013	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr1:228468013C>T	uc009xez.1	+	29	7841	c.7797C>T	c.(7795-7797)AAC>AAT	p.N2599N	OBSCN_uc001hsn.2_Silent_p.N2599N|OBSCN_uc001hsp.1_Silent_p.N298N|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2599	Ig-like 25.				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)				CCCTGTACAACGACAGCTTCC	0.627		NA											3	16					0	0	0	0
SAR1A	56681	broad.mit.edu	37	10	71921643	71921643	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:71921643T>C	uc010qjh.1	-	3	232	c.29A>G	c.(28-30)AAT>AGT	p.N10S	SAR1A_uc010qji.1_Missense_Mutation_p.N10S|SAR1A_uc010qjj.1_Intron	NM_001142648	NP_001136120	Q9NR31	SAR1A_HUMAN	SAR1a gene homolog 1	10					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0						GCTGAAGCCATTGTAGATCCA	0.358		NA											4	31					0	0	0	0
EXOC6	54536	broad.mit.edu	37	10	94818062	94818062	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:94818062G>A	uc001kig.2	+	22	2431	c.2365G>A	c.(2365-2367)GTC>ATC	p.V789I	EXOC6_uc010qnr.1_Missense_Mutation_p.V805I|EXOC6_uc001kie.2_Missense_Mutation_p.V784I|EXOC6_uc009xub.2_Missense_Mutation_p.V788I|EXOC6_uc009xuc.2_Missense_Mutation_p.V686I|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.V363I|CYP26C1_uc010qns.1_5'Flank|CYP26C1_uc009xud.2_5'Flank	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	789					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				GATAGAGACAGTCGTGAAACA	0.398		NA											8	43					0	0	0	0
PYROXD2	84795	broad.mit.edu	37	10	100148126	100148126	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:100148126C>T	uc001kpc.2	-	13	1518	c.1432G>A	c.(1432-1434)GCT>ACT	p.A478T	PYROXD2_uc001kpb.2_Intron|PYROXD2_uc001kpd.2_Intron	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	478							oxidoreductase activity			central_nervous_system(1)	1						TCTGCATAAGCGTCTCTCTCC	0.612		NA											8	26					0	0	0	0
DMBT1	1755	broad.mit.edu	37	10	124339094	124339094	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr10:124339094G>T	uc001lgk.1	+	10	786	c.680G>T	c.(679-681)GGA>GTA	p.G227V	DMBT1_uc001lgl.1_Missense_Mutation_p.G227V|DMBT1_uc001lgm.1_Missense_Mutation_p.G227V|DMBT1_uc009xzz.1_Missense_Mutation_p.G227V|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.G79V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	227					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCCCCTGTAGGATCTGAATCC	0.527		NA											39	391					6.2e-25	7.1e-25	1	0
DBX1	120237	broad.mit.edu	37	11	20177857	20177857	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:20177857G>A	uc001mpw.1	-	4	1052	c.1052C>T	c.(1051-1053)TCG>TTG	p.S351L		NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	developing brain homeobox 1	312					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						GTGCGCGGGCGAGGGGGGCAG	0.701		NA											10	68					0	0	0	0
HIPK3	10114	broad.mit.edu	37	11	33308667	33308667	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:33308667G>A	uc001mul.1	+	2	977	c.707G>A	c.(706-708)CGT>CAT	p.R236H	HIPK3_uc001mum.1_Missense_Mutation_p.R236H|HIPK3_uc009yjv.1_Missense_Mutation_p.R236H	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3 isoform	236	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1)	5						TCTTATGCCCGTCAAGGTCAA	0.398		NA											3	32					0	0	0	0
MRPL21	219927	broad.mit.edu	37	11	68658835	68658835	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:68658835C>T	uc001ooi.2	-	7	607	c.582G>A	c.(580-582)CGG>CGA	p.R194R	MRPL21_uc001ooh.2_Silent_p.R109R	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21 isoform d	194					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGCTGTTTATCCGGAGGACAG	0.473		NA											12	235					0	0	0	0
GAB2	9846	broad.mit.edu	37	11	77991788	77991788	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:77991788C>G	uc001ozh.2	-	2	235	c.235G>C	c.(235-237)GAG>CAG	p.E79Q	GAB2_uc001ozg.2_Missense_Mutation_p.E41Q	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2 isoform a	79	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity			ovary(5)|lung(1)	6	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TCCTGCAGCTCCTTCTTGTTA	0.473		NA											19	136					0	0	0	0
ST14	6768	broad.mit.edu	37	11	130078332	130078332	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr11:130078332C>T	uc001qfw.2	+	17	2215	c.2022C>T	c.(2020-2022)GCC>GCT	p.A674A		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	674	Extracellular (Potential).|Peptidase S1.			A -> V (in Ref. 3; BAB20376).	proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTGGACGGCCTTCCTGGGCT	0.662		NA											12	36					0	0	0	0
TENC1	23371	broad.mit.edu	37	12	53447568	53447568	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr12:53447568C>A	uc001sbp.2	+	5	407	c.272C>A	c.(271-273)ACG>AAG	p.T91K	uc001sbk.1_Intron|TENC1_uc001sbl.2_5'UTR|TENC1_uc001sbm.2_Missense_Mutation_p.T101K|TENC1_uc001sbn.2_Missense_Mutation_p.T101K|TENC1_uc001sbo.1_Missense_Mutation_p.T91K	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	91					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2						CGGCGAAACACGGCCCCAGTC	0.567		NA									OREG0021855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	35					0.000978159	0.00106141	1	0
STAB2	55576	broad.mit.edu	37	12	104089380	104089380	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr12:104089380G>C	uc001tjw.2	+	32	3614	c.3428G>C	c.(3427-3429)CGG>CCG	p.R1143P		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	1143	Extracellular (Potential).|FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CTGCTCATGCGGCTGGAACAG	0.502		NA											28	99					0	0	0	0
ATP8A2	51761	broad.mit.edu	37	13	26343230	26343230	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr13:26343230C>T	uc001uqk.2	+	26	2573	c.2431C>T	c.(2431-2433)CGG>TGG	p.R811W	ATP8A2_uc010tdi.1_Missense_Mutation_p.R771W|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.R361W	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter-like,	771	Cytoplasmic (Potential).				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|large_intestine(1)|skin(1)	4		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGTGAAGAAGCGGGTGAAGGC	0.537		NA											22	62					0	0	0	0
CCNA1	8900	broad.mit.edu	37	13	37011811	37011811	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr13:37011811C>G	uc001uvr.3	+	3	693	c.343C>G	c.(343-345)CCT>GCT	p.P115A	CCNA1_uc010teo.1_Missense_Mutation_p.P71A|CCNA1_uc010abq.2_Missense_Mutation_p.P71A|CCNA1_uc010abp.2_Missense_Mutation_p.P71A|CCNA1_uc001uvs.3_Missense_Mutation_p.P114A|CCNA1_uc010abr.2_RNA	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	115					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AAATGCCTTCCCTCCAGCTGG	0.478		NA											6	92					0	0	0	0
GALNTL1	57452	broad.mit.edu	37	14	69787431	69787431	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:69787431A>T	uc010aqu.1	+	2	274	c.181A>T	c.(181-183)ACA>TCA	p.T61S	GALNTL1_uc001xla.1_Missense_Mutation_p.T61S|GALNTL1_uc001xlb.1_Missense_Mutation_p.T61S	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	61	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		ATCTCAGGTGACAGGAACTCC	0.607		NA											7	86					0	0	0	0
SYNJ2BP	55333	broad.mit.edu	37	14	70842394	70842394	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:70842394C>T	uc001xmc.3	-	3	423	c.296G>A	c.(295-297)AGG>AAG	p.R99K	SYNJ2BP_uc010arc.2_RNA	NM_018373	NP_060843	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	99	PDZ.|Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane					0				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		GATACCTACCCTGTGCTGCAC	0.463		NA											22	112					0	0	0	0
TC2N	123036	broad.mit.edu	37	14	92258736	92258736	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:92258736T>A	uc001xzu.3	-	9	1213	c.1022A>T	c.(1021-1023)GAT>GTT	p.D341V	TC2N_uc001xzt.3_Missense_Mutation_p.D341V|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Missense_Mutation_p.D341V	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	341						nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)		TGGTGTTATATCCAAAGAGTA	0.363		NA											22	69					0	0	0	0
CHGA	1113	broad.mit.edu	37	14	93397703	93397703	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr14:93397703C>A	uc001ybc.3	+	6	724	c.464C>A	c.(463-465)CCG>CAG	p.P155Q	CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Intron	NM_001275	NP_001266	P10645	CMGA_HUMAN	chromogranin A precursor	155					regulation of blood pressure	extracellular region|stored secretory granule				skin(2)	2		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGGCCCTCCCGGAGCCCATG	0.522		NA											3	36					0.004672	0.00501625	1	0
NDNL2	56160	broad.mit.edu	37	15	29561416	29561416	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr15:29561416G>A	uc001zco.2	-	1	602	c.494C>T	c.(493-495)GCC>GTC	p.A165V	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	necdin-like 2	165	MAGE.				regulation of growth	cytoplasm|nucleus					0		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCTCATCTCGGCATCCTCCTC	0.547		NA											4	111					0	0	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40293317	40293317	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr15:40293317C>A	uc001zkm.1	+	21	3101	c.3051C>A	c.(3049-3051)CAC>CAA	p.H1017Q	EIF2AK4_uc010bbj.1_Missense_Mutation_p.H718Q|EIF2AK4_uc001zkn.1_Missense_Mutation_p.H117Q|EIF2AK4_uc001zko.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	1017					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TGCTGCACCACACGCTGACCA	0.587		NA											6	39					3.6e-05	3.93e-05	1	0
IRX5	10265	broad.mit.edu	37	16	54966559	54966559	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr16:54966559C>T	uc002ehv.2	+	2	399	c.399C>T	c.(397-399)AAC>AAT	p.N133N	IRX5_uc010cca.1_Silent_p.N185N|IRX5_uc002ehw.2_Silent_p.N67N	NM_005853	NP_005844	P78411	IRX5_HUMAN	iroquois homeobox protein 5	133	Homeobox; TALE-type.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding				0						CCTGGCTCAACGAGCACCGCA	0.627		NA											18	88					0	0	0	0
C16orf48	84080	broad.mit.edu	37	16	67700077	67700077	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr16:67700077G>A	uc002etw.1	-	2	460	c.177C>T	c.(175-177)ATC>ATT	p.I59I	C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.I59I|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	59						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CACCGGGACCGATGCAGGGGC	0.697		NA											5	59					0	0	0	0
ZFPM1	161882	broad.mit.edu	37	16	88601287	88601287	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr16:88601287G>C	uc002fkv.2	+	10	2954	c.2921G>C	c.(2920-2922)CGG>CCG	p.R974P		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	zinc finger protein, multitype 1	974	C2HC-type 5.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GGCAACCACCGGTACTGCCGT	0.527		NA											7	40					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			15	63					0	0	0	0
DNAH2	146754	broad.mit.edu	37	17	7734412	7734412	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:7734412C>G	uc002giu.1	+	79	12253	c.12239C>G	c.(12238-12240)GCA>GGA	p.A4080G	DNAH2_uc010cnm.1_Missense_Mutation_p.A1018G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	4080	TPR 4.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGTTGTCAGCACTGGAGACT	0.517		NA											4	301					0	0	0	0
KCNH4	23415	broad.mit.edu	37	17	40322231	40322231	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:40322231C>T	uc002hzb.2	-	8	1617	c.1284G>A	c.(1282-1284)GCG>GCA	p.A428A		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H,	428					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			large_intestine(1)	1		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTACAGTGCCGCGATGTAGG	0.602		NA											15	27					0	0	0	0
OR4D1	26689	broad.mit.edu	37	17	56232955	56232955	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:56232955C>T	uc010wno.1	+	1	441	c.441C>T	c.(439-441)GCC>GCT	p.A147A	MSX2P1_uc002ivn.2_5'Flank	NM_012374	NP_036506	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D,	147	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TGGTAGTAGCCGCCTGGGTGG	0.532		NA											21	59					0	0	0	0
RGS9	8787	broad.mit.edu	37	17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:63206625C>T	uc002jfe.2	+	17	1419	c.1309C>T	c.(1309-1311)CGG>TGG	p.R437W	RGS9_uc010dem.2_Missense_Mutation_p.R434W|RGS9_uc002jfd.2_Missense_Mutation_p.R434W|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.R208W	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	437					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						CCCTTTTATGCGGCGTCACCT	0.572		NA											4	128					0	0	0	0
PCYT2	5833	broad.mit.edu	37	17	79866789	79866789	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr17:79866789G>A	uc002kcf.1	-	3	366	c.303C>T	c.(301-303)ACC>ACT	p.T101T	PCYT2_uc010wva.1_Silent_p.T69T|PCYT2_uc010wvb.1_Silent_p.T69T|PCYT2_uc002kce.1_Silent_p.T23T|PCYT2_uc002kcg.1_Silent_p.T112T|PCYT2_uc002kch.1_Silent_p.T101T|PCYT2_uc002kci.1_Silent_p.T42T|PCYT2_uc010dii.1_Silent_p.T101T|PCYT2_uc010wvc.1_Silent_p.T23T	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	101	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATTTGTCCAGGGTCTCTAGTG	0.587		NA											10	84					0	0	0	0
EPB41L3	23136	broad.mit.edu	37	18	5396229	5396229	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr18:5396229T>G	uc002kmt.1	-	19	3030	c.2944A>C	c.(2944-2946)ACC>CCC	p.T982P	EPB41L3_uc010wzh.1_Missense_Mutation_p.T813P|EPB41L3_uc002kmu.1_Missense_Mutation_p.T760P|EPB41L3_uc010dkq.1_Missense_Mutation_p.T651P|EPB41L3_uc002kms.1_Missense_Mutation_p.T217P|EPB41L3_uc010wze.1_Missense_Mutation_p.T287P|EPB41L3_uc010wzf.1_Missense_Mutation_p.T279P|EPB41L3_uc010wzg.1_Missense_Mutation_p.T254P|EPB41L3_uc010dkr.2_Missense_Mutation_p.T374P	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	982	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						ATGGTTTTGGTTTCGGTGTGA	0.458		NA											5	187					0	0	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561118	44561118	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr18:44561118G>A	uc002lcr.1	-	1	871	c.518C>T	c.(517-519)ACG>ATG	p.T173M	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	173					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4						AGCTGTGCGCGTTGGAGAGGC	0.687		NA											7	71					0	0	0	0
ICAM5	7087	broad.mit.edu	37	19	10404565	10404565	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:10404565G>A	uc002mnu.3	+	7	1722	c.1657G>A	c.(1657-1659)GAA>AAA	p.E553K	ICAM5_uc002mnv.3_Missense_Mutation_p.E428K	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	553	Extracellular (Potential).|Ig-like C2-type 6.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TTACCGCTGCGAAGCCACCAA	0.652		NA											12	42					0	0	0	0
DCAF15	90379	broad.mit.edu	37	19	14070879	14070879	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:14070879C>T	uc002mxt.2	+	10	1530	c.1524C>T	c.(1522-1524)CTC>CTT	p.L508L	DCAF15_uc002mxu.2_RNA	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	508										central_nervous_system(1)	1						AGGGCCAGCTCCGGTGAGCGC	0.667		NA									OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	25					0	0	0	0
CD97	976	broad.mit.edu	37	19	14517888	14517888	+	Silent	SNP	G	G	A	rs141170739	byFrequency	TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:14517888G>A	uc002myl.2	+	18	2346	c.2223G>A	c.(2221-2223)ACG>ACA	p.T741T	CD97_uc002mym.2_Silent_p.T692T|CD97_uc002myn.2_Silent_p.T648T	NM_078481	NP_510966	P48960	CD97_HUMAN	CD97 antigen isoform 1 precursor	741	Helical; Name=6; (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)|breast(1)	4						TGACCATCACGGCCATCGCGC	0.637		NA											11	68					0	0	0	0
PTOV1	53635	broad.mit.edu	37	19	50357788	50357788	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:50357788C>T	uc002pqf.1	+	2	467	c.297C>T	c.(295-297)CTC>CTT	p.L99L	uc002ppy.3_5'Flank|PTOV1_uc010ybf.1_Silent_p.L67L|PTOV1_uc002ppz.3_RNA|PTOV1_uc002pqb.3_Silent_p.L67L|PTOV1_uc002pqa.2_RNA|PTOV1_uc002pqc.1_RNA|PTOV1_uc002pqd.2_RNA|PTOV1_uc002pqe.1_RNA	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane					0		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GCGGCGTCCTCGAGTGGCAGG	0.672		NA											5	64					0	0	0	0
TMEM190	147744	broad.mit.edu	37	19	55889198	55889198	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:55889198G>A	uc002qkt.1	+	4	267	c.249G>A	c.(247-249)GCG>GCA	p.A83A		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190 precursor	83	Helical; (Potential).					integral to membrane					0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ACATGTGGGCGCTGGTCTGGA	0.692		NA											5	64					0	0	0	0
ZNF549	256051	broad.mit.edu	37	19	58049987	58049987	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:58049987A>G	uc002qpb.1	+	4	1864	c.1615A>G	c.(1615-1617)AGC>GGC	p.S539G	ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.S526G	NM_153263	NP_694995	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	539	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAGTCTTCAGCCACCAAAA	0.443		NA											4	56					0	0	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420192	56420192	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:56420192G>T	uc002rzn.2	+	2	1359	c.857G>T	c.(856-858)TGC>TTC	p.C286F		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	286	His-rich.									breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAACCCTTGTGCAAGGGCAGC	0.632		NA											16	84					4.15e-12	4.73e-12	1	0
TTN	7273	broad.mit.edu	37	2	179433038	179433038	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:179433038C>T	uc010zfg.1	-	275	70341	c.70117G>A	c.(70117-70119)GTT>ATT	p.V23373I	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V17068I|TTN_uc010zfi.1_Missense_Mutation_p.V17001I|TTN_uc010zfj.1_Missense_Mutation_p.V16876I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	24300							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGCAGAAACAACATCCCAT	0.383		NA											18	58					0	0	0	0
TTN	7273	broad.mit.edu	37	2	179587178	179587178	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:179587178C>A	uc010zfg.1	-	74	18828	c.18604G>T	c.(18604-18606)GCA>TCA	p.A6202S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2863S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7129							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATGGGTGCAGAGCCATTT	0.393		NA											14	69					1.58e-08	1.78e-08	1	0
NEUROD1	4760	broad.mit.edu	37	2	182542610	182542610	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:182542610G>A	uc002uof.2	-	2	1214	c.978C>T	c.(976-978)TGC>TGT	p.C326C	CERKL_uc002uod.1_Intron	NM_002500	NP_002491	Q13562	NDF1_HUMAN	neurogenic differentiation 1	326					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGGGATCTCGCAGCGAGGGG	0.502		NA											10	102					0	0	0	0
SPAG16	79582	broad.mit.edu	37	2	214878680	214878680	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:214878680G>A	uc002veq.2	+	13	1498	c.1406G>A	c.(1405-1407)AGA>AAA	p.R469K	SPAG16_uc010fuz.1_Missense_Mutation_p.R320K|SPAG16_uc002ver.2_Missense_Mutation_p.R415K|SPAG16_uc010zjk.1_Missense_Mutation_p.R375K	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	469	WD 3.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TATAGTGAAAGATGCAGATGT	0.338		NA											10	73					0	0	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669125	234669125	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr2:234669125C>T	uc002vvb.2	+	1	207	c.192C>T	c.(190-192)GCC>GCT	p.A64A	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Silent_p.A64A	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	64					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CACCTGACGCCTCGTTGTACA	0.522		NA											11	88					0	0	0	0
GDF5	8200	broad.mit.edu	37	20	34022565	34022565	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr20:34022565C>T	uc010gfc.1	-	2	889	c.648G>A	c.(646-648)GTG>GTA	p.V216V	uc002xcj.2_Missense_Mutation_p.H326Y|GDF5_uc002xck.1_Silent_p.V216V|GDF5_uc010zvc.1_Silent_p.V216V	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	216					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCTTCCTGACCACGGGACCTC	0.612		NA											38	151					0	0	0	0
TOP2B	7155	broad.mit.edu	37	3	25639860	25639860	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr3:25639860C>T	uc003cdj.2	-	36	4804	c.4804G>A	c.(4804-4806)GTA>ATA	p.V1602I	TOP2B_uc011awm.1_Missense_Mutation_p.V459I|TOP2B_uc010hff.1_Missense_Mutation_p.V468I	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	DNA topoisomerase II, beta isozyme	1607					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5						AAATATTTTACTTCTTTCCTA	0.403		NA											11	43					0	0	0	0
SLC7A14	57709	broad.mit.edu	37	3	170198808	170198808	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr3:170198808C>T	uc003fgz.2	-	7	1579	c.1263G>A	c.(1261-1263)TTG>TTA	p.L421L	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	421	Helical; (Potential).					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)			AGACAGAGACCAAGGTGTAGG	0.532		NA											14	91					0	0	0	0
INTS12	57117	broad.mit.edu	37	4	106621141	106621141	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr4:106621141C>T	uc003hxw.2	-	3	280	c.22G>A	c.(22-24)GAA>AAA	p.E8K	INTS12_uc010ilr.2_Missense_Mutation_p.E8K	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	integrator complex subunit 12	8					snRNA processing	integrator complex	protein binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GGATCAAGTTCCAAGTTCACA	0.358		NA											37	85					0	0	0	0
ENPP6	133121	broad.mit.edu	37	4	185012424	185012424	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr4:185012424A>C	uc003iwc.2	-	8	1371	c.1229T>G	c.(1228-1230)GTG>GGG	p.V410G		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	410	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CATGCACATCACCCTGGACCA	0.587		NA											6	76					0	0	0	0
KLKB1	3818	broad.mit.edu	37	4	187172684	187172684	+	Silent	SNP	A	A	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr4:187172684A>G	uc003iyy.2	+	9	983	c.912A>G	c.(910-912)GGA>GGG	p.G304G	KLKB1_uc011clc.1_Silent_p.G102G|KLKB1_uc011cld.1_Silent_p.G266G	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	304	Apple 4.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACTTTGGAGGAGAAGAATTGA	0.373		NA											3	73					0	0	0	0
RASA1	5921	broad.mit.edu	37	5	86674234	86674234	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:86674234G>A	uc003kiw.2	+	18	2484	c.2366G>A	c.(2365-2367)CGA>CAA	p.R789Q	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.R612Q|RASA1_uc011ctv.1_Missense_Mutation_p.R622Q|RASA1_uc011ctw.1_Missense_Mutation_p.R623Q|RASA1_uc010jaw.2_Missense_Mutation_p.R611Q	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	789	Ras-GAP.			R -> A (in Ref. 4; AA sequence).	cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACCCTATTTCGAGCCACAACA	0.353		NA											13	32					0	0	0	0
GPR98	84059	broad.mit.edu	37	5	90079036	90079036	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:90079036G>A	uc003kju.2	+	66	13423	c.13327G>A	c.(13327-13329)GCC>ACC	p.A4443T	GPR98_uc003kjt.2_Missense_Mutation_p.A2149T|GPR98_uc003kjw.2_Missense_Mutation_p.A104T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4443	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGCTCCTCTGCCAGTCCCGG	0.443		NA											27	113					0	0	0	0
PSD2	84249	broad.mit.edu	37	5	139201499	139201499	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:139201499G>A	uc003leu.1	+	6	1324	c.1119G>A	c.(1117-1119)CCG>CCA	p.P373P		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	373	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCTTCCCGCTGATGGGGG	0.587		NA											7	64					0	0	0	0
ABLIM3	22885	broad.mit.edu	37	5	148590346	148590346	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:148590346G>A	uc003lpy.2	+	7	884	c.633G>A	c.(631-633)GAG>GAA	p.E211E	ABLIM3_uc003lpz.1_Silent_p.E211E|ABLIM3_uc003lqa.1_Silent_p.E219E|ABLIM3_uc003lqb.2_Silent_p.E211E|ABLIM3_uc003lqc.1_Silent_p.E211E|ABLIM3_uc003lqd.1_Silent_p.E211E|ABLIM3_uc003lqf.2_Silent_p.E211E|ABLIM3_uc003lqe.1_Silent_p.E211E	NM_014945	NP_055760	O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	211	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			ovary(2)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAATGTGAGACTTGTGACC	0.478		NA											41	115					0	0	0	0
ATXN1	6310	broad.mit.edu	37	6	16328463	16328463	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:16328463C>T	uc003nbt.2	-	8	1050	c.79G>A	c.(79-81)GAG>AAG	p.E27K	ATXN1_uc010jpi.2_Missense_Mutation_p.E27K|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	27					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCCTTCTCCTCGGAGGACCGG	0.687		NA											6	70					0	0	0	0
PRL	5617	broad.mit.edu	37	6	22294767	22294767	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:22294767G>A	uc003ndp.2	-	2	594	c.75C>T	c.(73-75)AGC>AGT	p.S25S	PRL_uc003ndo.2_Silent_p.S26S|PRL_uc003ndq.2_Silent_p.S25S|PRL_uc003ndr.1_RNA	NM_000948	NP_000939	P01236	PRL_HUMAN	prolactin precursor	25					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding				0	Ovarian(93;0.163)					AGGGGGCCACGCTCTGGCACA	0.592		NA											4	26					0	0	0	0
KAAG1	353219	broad.mit.edu	37	6	24357907	24357907	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:24357907G>A	uc003ndz.1	+	1	777	c.40G>A	c.(40-42)GTT>ATT	p.V14I	DCDC2_uc003ndx.2_Silent_p.N24N|DCDC2_uc003ndy.2_Silent_p.N24N	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	14					immune response						0						AGGGGTCCCCGTTGCGGTACA	0.662		NA											9	59					0	0	0	0
PKHD1	5314	broad.mit.edu	37	6	51875151	51875151	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:51875151C>T	uc003pah.1	-	35	5983	c.5707G>A	c.(5707-5709)GTC>ATC	p.V1903I	PKHD1_uc003pai.2_Missense_Mutation_p.V1903I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1903	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GTAATCTTGACGGTAATTGGC	0.393		NA											6	37					0	0	0	0
KIAA1919	91749	broad.mit.edu	37	6	111588141	111588141	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:111588141C>T	uc003puv.3	+	4	1798	c.1376C>T	c.(1375-1377)ACG>ATG	p.T459M		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	sodium-dependent glucose transporter 1	459	Cytoplasmic (Potential).				carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(3)	3		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		ATGATTGAAACGAATGATACA	0.398		NA											5	50					0	0	0	0
EPDR1	54749	broad.mit.edu	37	7	37988474	37988474	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:37988474G>C	uc003tfp.2	+	2	681	c.662G>C	c.(661-663)GGA>GCA	p.G221A	EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.G40A	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	101					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						TATAAGGATGGAGTGATGTTT	0.423		NA											4	51					0	0	0	0
ZNF716	441234	broad.mit.edu	37	7	57522286	57522286	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:57522286T>C	uc011kdi.1	+	2	272	c.160T>C	c.(160-162)TCC>CCC	p.S54P		NM_001159279	NP_001152751			zinc finger protein 716											ovary(2)	2						AAACCTGGTCTCCCTGGGTGA	0.368		NA											4	64					0	0	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377219	104377219	+	Silent	SNP	T	T	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:104377219T>C	uc003vce.2	+	2	667	c.543T>C	c.(541-543)CTT>CTC	p.L181L	LHFPL3_uc003vcf.2_Silent_p.L181L	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	167						integral to membrane					0						AGTACACTCTTGGGGCTTGCT	0.473		NA											7	25					0	0	0	0
LRRN3	54674	broad.mit.edu	37	7	110764283	110764283	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:110764283C>T	uc003vft.3	+	4	2501	c.1455C>T	c.(1453-1455)GGC>GGT	p.G485G	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.G485G|LRRN3_uc003vfs.3_Silent_p.G485G	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	485	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATATAAATGGCGTAACTCCCA	0.408		NA											8	71					0	0	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141158	143141158	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:143141158C>T	uc011ktg.1	+	1	613	c.613C>T	c.(613-615)CCC>TCC	p.P205S	uc003wda.2_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	205	Cytoplasmic (Potential).				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			skin(6)	6	Melanoma(164;0.172)					TTGGACAATGCCCACTGCTGT	0.448		NA											4	152					0	0	0	0
TMEM176A	55365	broad.mit.edu	37	7	150500820	150500820	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:150500820G>A	uc003whx.1	+	5	533	c.455G>A	c.(454-456)CGC>CAC	p.R152H	TMEM176B_uc003whw.3_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	hepatocellular carcinoma-associated antigen 112	152						integral to membrane				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCCTGCCGCATCTCCAGC	0.512		NA											29	74					0	0	0	0
MLL3	58508	broad.mit.edu	37	7	151949691	151949691	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr7:151949691C>T	uc003wla.2	-	10	1628	c.1409G>A	c.(1408-1410)TGT>TAT	p.C470Y		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	470	DHHC-type.|PHD-type 3.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACACTTCCCACAGAAGGGACA	0.388		NA	N		medulloblastoma								5	26					0	0	0	0
EXTL3	2137	broad.mit.edu	37	8	28573798	28573798	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:28573798C>T	uc003xgz.1	+	3	815	c.222C>T	c.(220-222)TGC>TGT	p.C74C		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	74	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		ACGAGCTGTGCGAGGTGAAGC	0.602		NA											12	55					0	0	0	0
UNC5D	137970	broad.mit.edu	37	8	35606140	35606140	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:35606140C>T	uc003xjr.1	+	12	2190	c.1862C>T	c.(1861-1863)CCG>CTG	p.P621L	UNC5D_uc003xjs.1_Missense_Mutation_p.P616L|UNC5D_uc003xju.1_Missense_Mutation_p.P197L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	621	ZU5.|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)		TTGACCATCCCGCACTGTGCA	0.493		NA											5	116					0	0	0	0
OPRK1	4986	broad.mit.edu	37	8	54141973	54141973	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:54141973C>T	uc003xrh.1	-	3	1402	c.1027G>A	c.(1027-1029)GAC>AAC	p.D343N	OPRK1_uc003xri.1_Missense_Mutation_p.D343N|OPRK1_uc010lyc.1_Missense_Mutation_p.D254N	NM_000912	NP_000903	P41145	OPRK_HUMAN	opioid receptor, kappa 1	343	Cytoplasmic (Potential).				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AAGCAGAAGTCCCGGAAACAC	0.493		NA											6	59					0	0	0	0
TOP1MT	116447	broad.mit.edu	37	8	144392336	144392336	+	Silent	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:144392336C>T	uc003yxz.2	-	13	1624	c.1605G>A	c.(1603-1605)GCG>GCA	p.A535A	TOP1MT_uc011lkd.1_Silent_p.A437A|TOP1MT_uc011lke.1_Silent_p.A437A|TOP1MT_uc010mfb.2_Silent_p.A437A|TOP1MT_uc011lkf.1_Silent_p.A330A	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	535					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CACTCAGCTGCGCCAGCTGCT	0.642		NA											4	23					0	0	0	0
SHARPIN	81858	broad.mit.edu	37	8	145154029	145154029	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:145154029G>A	uc003zba.2	-	7	1486	c.1002C>T	c.(1000-1002)CCC>CCT	p.P334P	SHARPIN_uc003zbb.2_Intron	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	shank-interacting protein-like 1	334					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			ovary(1)	1	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGGGCCTGGGGGTAGCCCCA	0.662		NA											3	41					0	0	0	0
GPR172A	79581	broad.mit.edu	37	8	145584283	145584283	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr8:145584283G>A	uc003zcc.1	+	4	1192	c.1035G>A	c.(1033-1035)CTG>CTA	p.L345L	FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_5'Flank|FBXL6_uc003zcb.2_5'Flank|FBXL6_uc010mfx.2_5'Flank|GPR172A_uc003zcd.1_Silent_p.L345L|GPR172A_uc003zce.1_Silent_p.L345L|GPR172A_uc010mfy.1_Silent_p.L345L|GPR172A_uc003zcf.1_Silent_p.L345L|GPR172A_uc011llc.1_Silent_p.L257L	NM_024531	NP_078807	Q9HAB3	RFT3_HUMAN	G protein-coupled receptor 172A precursor	345	Helical; (Potential).					integral to plasma membrane	receptor activity|riboflavin transporter activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TCTCTCTGCTGGGCGTGTTCT	0.692		NA											24	112					0	0	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971186	21971186	+	Nonsense_Mutation	SNP	G	G	A	rs121913387		TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:21971186G>A	uc003zpk.2	-	2	384	c.172C>T	c.(172-174)CGA>TGA	p.R58*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P113L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	58	ANK 2.				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.R58*(68)|p.?(14)|p.M53_R58del(3)|p.R58fs*59(2)|p.M54fs*61(2)|p.R58fs*89(1)|p.R58R(1)|p.V28_V51del(1)|p.A57_R58>V*(1)|p.R58fs*61(1)|p.R58fs*62(1)|p.G55fs*86(1)|p.R58Q(1)|p.P113L(1)|p.A57fs*85(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCCGCCACTCGGGCGCTGCCC	0.677		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	14					0	0	0	0
KLF9	687	broad.mit.edu	37	9	73002724	73002724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:73002724G>A	uc004aht.2	-	2	1997	c.703C>T	c.(703-705)CGA>TGA	p.R235*		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Kruppel-like factor 9	235					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						TTTTTCGATCGCTTGATCATG	0.597		NA											14	69					0	0	0	0
PTPDC1	138639	broad.mit.edu	37	9	96863938	96863938	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:96863938G>A	uc004auf.1	+	8	2282	c.1942G>A	c.(1942-1944)GAG>AAG	p.E648K	PTPDC1_uc004aug.1_Missense_Mutation_p.E643K|PTPDC1_uc004auh.1_Missense_Mutation_p.E700K|PTPDC1_uc010mrj.1_Missense_Mutation_p.E702K	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	648							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						GTCTTGGGTGGAGCAACTGAA	0.463		NA											14	88					0	0	0	0
ASTN2	23245	broad.mit.edu	37	9	119903652	119903652	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr9:119903652A>G	uc004bjs.1	-	4	1222	c.1121T>C	c.(1120-1122)CTG>CCG	p.L374P	ASTN2_uc004bjr.1_Missense_Mutation_p.L374P|ASTN2_uc004bjt.1_Intron	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	374	Cytoplasmic (Potential).					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9						TGTGCTGCGCAGGGGTGGTTG	0.592		NA											3	49					0	0	0	0
USP9X	8239	broad.mit.edu	37	X	41077799	41077799	+	Silent	SNP	G	G	A			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chrX:41077799G>A	uc004dfb.2	+	37	7017	c.6384G>A	c.(6382-6384)TTG>TTA	p.L2128L	USP9X_uc004dfc.2_Silent_p.L2128L	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2128					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						ATTTTTCCTTGCAAGATGGGC	0.413		NA											37	44					0	0	0	0
OGT	8473	broad.mit.edu	37	X	70776891	70776891	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chrX:70776891C>T	uc004eaa.1	+	10	1473	c.1256C>T	c.(1255-1257)ACG>ATG	p.T419M	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Missense_Mutation_p.T409M|OGT_uc004eac.2_Missense_Mutation_p.T280M|OGT_uc004ead.2_Missense_Mutation_p.T38M	NM_181672	NP_858058	O15294	OGT1_HUMAN	O-linked GlcNAc transferase isoform 1	419	TPR 11.				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			ovary(3)|kidney(1)|pancreas(1)	5	Renal(35;0.156)					CAGTGTTATACGCGTGCCATC	0.403		NA											3	17					0	0	0	0
ATRX	546	broad.mit.edu	37	X	76937546	76937546	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chrX:76937546T>C	uc004ecp.3	-	9	3434	c.3202A>G	c.(3202-3204)ACA>GCA	p.T1068A	ATRX_uc004ecq.3_Missense_Mutation_p.T1030A|ATRX_uc004eco.3_Missense_Mutation_p.T853A|ATRX_uc004ecr.2_Missense_Mutation_p.T1000A|ATRX_uc010nlx.1_Missense_Mutation_p.T1039A|ATRX_uc010nly.1_Missense_Mutation_p.T1013A	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1068					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	CCTTTCCCTGTTGACTTCTCA	0.338		NA	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						32	151					0	0	0	0
SPTBN4	57731	broad.mit.edu	37	19	41073713	41073714	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr19:41073713_41073714insC	uc002ony.2	+	31	6567_6568	c.6481_6482insC	c.(6481-6483)GCCfs	p.A2161fs	SPTBN4_uc002onz.2_Frame_Shift_Ins_p.A2161fs|SPTBN4_uc010egx.2_Frame_Shift_Ins_p.A904fs	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	2161					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAGCCCCTGGCCCGCCGAGCC	0.718		NA											2	4	---	---	---	---	NA	NA	NA	NA
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr5:156378745_156378747delTTG	uc003lwh.2	-	3	512_514	c.455_457delCAA	c.(454-459)ACAAGC>AGC	p.T152del	TIMD4_uc010jii.2_In_Frame_Del_p.T152del	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	152	Extracellular (Potential).|Thr-rich.					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537		NA											7	481	---	---	---	---	NA	NA	NA	NA
CNPY3	10695	broad.mit.edu	37	6	42897358	42897360	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CQ-6224-01A-11D-1912-08	TCGA-CQ-6224-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	c03d51a0-8731-430d-a792-280e01629e8f	7c72a2dd-0b25-41a1-be66-a691196e57d0	g.chr6:42897358_42897360delTGC	uc003ota.3	+	1	499_501	c.50_52delTGC	c.(49-54)TTGCTG>TTG	p.17_18LL>L	CNPY3_uc003osy.2_RNA|CNPY3_uc003osz.2_In_Frame_Del_p.17_18LL>L|CNPY3_uc003otc.3_5'UTR|CNPY3_uc003otb.3_5'UTR	NM_006586	NP_006577	Q9BT09	CNPY3_HUMAN	trinucleotide repeat containing 5 precursor	17_18					innate immune response	endoplasmic reticulum				ovary(1)	1	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTCTTCCCTtgctgctgctgct	0.606		NA											3	5	---	---	---	---	NA	NA	NA	NA
