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
CAMTA1	23261	broad.mit.edu	37	1	6880243	6880243	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:6880243C>T	uc001aoi.2	+	2	255	c.48C>T	c.(46-48)AGC>AGT	p.S16S	CAMTA1_uc001aoh.2_RNA	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCCTTAGagcgtttcccaaa	0.199		NA											8	114					0	0	0	0
HTR6	3362	broad.mit.edu	37	1	19992531	19992531	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:19992531G>A	uc001bcl.2	+	1	752	c.285G>A	c.(283-285)GCG>GCA	p.A95A		NM_000871	NP_000862	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6	95	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			ovary(1)	1		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GGGTGCTGGCGCGCGGCCTCT	0.652		NA											6	112					0	0	0	0
GRHL3	57822	broad.mit.edu	37	1	24663626	24663626	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:24663626A>C	uc001biy.2	+	5	732	c.686A>C	c.(685-687)TAC>TCC	p.Y229S	GRHL3_uc001bix.2_Missense_Mutation_p.Y224S|GRHL3_uc001biz.2_Missense_Mutation_p.Y131S	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	224					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCAGAGGACTACCCCAGCCTC	0.562		NA											6	72					0	0	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235953	33235953	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:33235953C>T	uc001bvv.2	+	6	1132	c.996C>T	c.(994-996)CGC>CGT	p.R332R	KIAA1522_uc001bvu.1_Silent_p.R391R|KIAA1522_uc010ohm.1_Silent_p.R343R|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	332	Ser-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTCAGTCCGCTCGCTGGGGC	0.687		NA											17	44					0	0	0	0
RABGGTB	5876	broad.mit.edu	37	1	76260255	76260255	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:76260255A>G	uc001dgy.1	+	9	987	c.916A>G	c.(916-918)ATT>GTT	p.I306V	MSH4_uc001dhd.1_5'Flank|RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_Missense_Mutation_p.D261G|RABGGTB_uc001dhc.1_RNA	NM_004582	NP_004573	P53611	PGTB2_HUMAN	RAB geranylgeranyltransferase, beta subunit	306					protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity			ovary(1)	1						AGAAGAACAGATTAAACCTGT	0.353		NA											65	123					0	0	0	0
C1orf110	339512	broad.mit.edu	37	1	162824983	162824983	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:162824983C>A	uc001gck.2	-	4	656	c.481G>T	c.(481-483)GAT>TAT	p.D161Y	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.D160Y	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	hypothetical protein LOC339512	161											0						TTCACAGAATCTTTCTCTTGG	0.468		NA											146	580					3.51e-50	4.06e-50	1	0
F5	2153	broad.mit.edu	37	1	169529961	169529961	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:169529961G>A	uc001ggg.1	-	4	562	c.417C>T	c.(415-417)GAC>GAT	p.D139D	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	139	F5/8 type A 1.|Plastocyanin-like 1.	Calcium (By similarity).			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCACAGCGTCGTCCATCTTCT	0.517		NA											76	147					0	0	0	0
TNN	63923	broad.mit.edu	37	1	175086194	175086194	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:175086194G>A	uc001gkl.1	+	10	2352	c.2239G>A	c.(2239-2241)GAC>AAC	p.D747N		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	747	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTCTGCCAAGGACGGAGAGAC	0.642		NA											84	143					0	0	0	0
GPR37L1	9283	broad.mit.edu	37	1	202092540	202092540	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:202092540C>T	uc001gxj.2	+	1	512	c.449C>T	c.(448-450)TCG>TTG	p.S150L		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	150	Helical; Name=1; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2						GGCAACCTGTCGGTCATGTGC	0.572		NA											50	64					0	0	0	0
PDZD8	118987	broad.mit.edu	37	10	119100522	119100522	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr10:119100522G>A	uc001lde.1	-	2	1163	c.964C>T	c.(964-966)CGT>TGT	p.R322C		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	322					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)		ACTTTAAGACGGCCTTCAGTA	0.378		NA											3	75					0	0	0	0
GPR26	2849	broad.mit.edu	37	10	125426383	125426383	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr10:125426383G>A	uc001lhh.2	+	1	513	c.460G>A	c.(460-462)GCC>ACC	p.A154T		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	154	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCAGCTGTACGCCTCGTGCAC	0.701		NA											8	14					0	0	0	0
OR8J3	81168	broad.mit.edu	37	11	55904719	55904719	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:55904719A>T	uc010riz.1	-	1	476	c.476T>A	c.(475-477)GTT>GAT	p.V159D		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Esophageal squamous(21;0.00693)					ACAAGGTGAAACCACAATAGC	0.423		NA											5	163					0	0	0	0
ZFP91	80829	broad.mit.edu	37	11	58384695	58384695	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:58384695G>T	uc001nmx.3	+	11	1397	c.1229G>T	c.(1228-1230)CGA>CTA	p.R410L	ZFP91_uc001nmy.3_Missense_Mutation_p.R409L|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	410	C2H2-type 4.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TTTACTTGTCGACAAAAGGCA	0.398		NA											54	121					5.67e-16	6.36e-16	1	0
SCYL1	57410	broad.mit.edu	37	11	65298219	65298219	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:65298219C>T	uc001oea.1	+	7	1046	c.969C>T	c.(967-969)TTC>TTT	p.F323F	SCYL1_uc009yqk.2_Silent_p.F323F|SCYL1_uc001oeb.1_Silent_p.F323F|SCYL1_uc001oec.1_Silent_p.F323F|SCYL1_uc001oed.1_Silent_p.F180F|SCYL1_uc001oee.1_5'UTR	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A	323					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						CCTTCGAGTTCGGCAATGCTG	0.587		NA											30	149					0	0	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102987416	102987416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr11:102987416C>T	uc001pho.2	+	5	883	c.739C>T	c.(739-741)CGA>TGA	p.R247*	DYNC2H1_uc001phn.1_Nonsense_Mutation_p.R247*|DYNC2H1_uc009yxe.1_Nonsense_Mutation_p.R247*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	247	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTGAGTCACGAATGTTGCA	0.348		NA											25	210					0	0	0	0
PRB3	5544	broad.mit.edu	37	12	11420570	11420570	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr12:11420570C>A	uc001qzs.2	-	3	651	c.613G>T	c.(613-615)GAA>TAA	p.E205*	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	205	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|8.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGTGGTCCTTCTGGCTTTCCC	0.632		NA											57	331					2.77e-52	3.23e-52	1	0
DENND5B	160518	broad.mit.edu	37	12	31586167	31586167	+	Silent	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr12:31586167C>G	uc001rki.1	-	8	2214	c.2028G>C	c.(2026-2028)CGG>CGC	p.R676R	DENND5B_uc001rkh.1_Silent_p.R711R|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Silent_p.R698R	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	676						integral to membrane				ovary(1)|central_nervous_system(1)	2						CAGTGGCACTCCGACTTACCC	0.448		NA											5	274					0	0	0	0
KDELC1	79070	broad.mit.edu	37	13	103441563	103441563	+	Nonsense_Mutation	SNP	A	A	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr13:103441563A>C	uc001vpq.3	-	7	1476	c.1092T>G	c.(1090-1092)TAT>TAG	p.Y364*	KDELC1_uc001vpr.3_Nonsense_Mutation_p.Y145*	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	364						endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TATTTATTTGATACTTATGCT	0.393		NA											4	72					0	0	0	0
C14orf37	145407	broad.mit.edu	37	14	58605804	58605804	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr14:58605804C>T	uc001xdc.2	-	2	384	c.273G>A	c.(271-273)TCG>TCA	p.S91S	C14orf37_uc010tro.1_Silent_p.S129S|C14orf37_uc001xdd.2_Silent_p.S91S|C14orf37_uc001xde.2_Silent_p.S91S	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	hypothetical protein LOC145407 precursor	91	Extracellular (Potential).					integral to membrane	binding				0						CTTTGTTAATCGAGAATGCTT	0.488		NA											80	143					0	0	0	0
LTBP2	4053	broad.mit.edu	37	14	74968148	74968148	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr14:74968148G>A	uc001xqa.2	-	35	5703	c.5316C>T	c.(5314-5316)TGC>TGT	p.C1772C		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding	1772	EGF-like 19; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			liver(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ACTTACCTACGCAGGCCATGT	0.607		NA									OREG0022805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	100	165					0	0	0	0
OR4M2	390538	broad.mit.edu	37	15	22369030	22369030	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:22369030G>C	uc010tzu.1	+	1	455	c.455G>C	c.(454-456)GGC>GCC	p.G152A	LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TGGAGGGGGGGCTTCATTCAT	0.502		NA											73	382					0	0	0	0
RTF1	23168	broad.mit.edu	37	15	41769670	41769670	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:41769670G>A	uc001zny.2	+	14	1709	c.1697G>A	c.(1696-1698)CGG>CAG	p.R566Q		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Paf1/RNA polymerase II complex component	566					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			ovary(2)	2		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ATCAACCAGCGGAACCGGGAG	0.453		NA											36	115					0	0	0	0
THAP10	56906	broad.mit.edu	37	15	71175199	71175199	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:71175199G>C	uc002asv.2	-	2	620	c.478C>G	c.(478-480)CCA>GCA	p.P160A	LRRC49_uc002asu.2_Intron	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	160							DNA binding|metal ion binding			ovary(1)|skin(1)	2						GTATTAGATGGATTATCAGCA	0.393		NA											29	117					0	0	0	0
SLC28A1	9154	broad.mit.edu	37	15	85447466	85447466	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:85447466C>T	uc002blg.2	+	7	802	c.600C>T	c.(598-600)TGC>TGT	p.C200C	SLC28A1_uc010upd.1_Silent_p.C122C|SLC28A1_uc010bnb.2_Silent_p.C200C|SLC28A1_uc010upe.1_Silent_p.C200C|SLC28A1_uc010upf.1_Silent_p.C200C|SLC28A1_uc010upg.1_Silent_p.C200C	NM_004213	NP_004204	O00337	S28A1_HUMAN	solute carrier family 28, member 1 isoform 1	200					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCATCATTGCGCAGTGAGTG	0.587		NA											83	60					0	0	0	0
KLHL25	64410	broad.mit.edu	37	15	86311486	86311486	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr15:86311486G>A	uc002bly.2	-	2	1759	c.1556C>T	c.(1555-1557)ACG>ATG	p.T519M		NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	BTB/POZ KELCH domain protein	519	Kelch 5.					cytoplasm				ovary(2)	2						CCCAATCCGCGTCCACTGGTT	0.612		NA											29	91					0	0	0	0
ZG16B	124220	broad.mit.edu	37	16	2880459	2880459	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:2880459C>T	uc002cru.2	+	2	201	c.125C>T	c.(124-126)ACG>ATG	p.T42M		NM_145252	NP_660295	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16 homolog B precursor	42	Poly-Leu.					extracellular region	sugar binding			ovary(1)	1						CTGCTGCTCACGCTTGCCCTC	0.662		NA											14	14					0	0	0	0
VASN	114990	broad.mit.edu	37	16	4432462	4432462	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:4432462C>T	uc002cwj.1	+	2	1739	c.1584C>T	c.(1582-1584)AAC>AAT	p.N528N	CORO7_uc002cwe.2_Intron|CORO7_uc002cwf.2_Intron|CORO7_uc002cwg.3_Intron|CORO7_uc002cwh.3_Intron|CORO7_uc010uxh.1_Intron|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	slit-like 2 precursor	528	Fibronectin type-III.|Extracellular (Potential).					extracellular region|integral to membrane					0						TGCGGCCCAACGCCACTTACT	0.677		NA											10	9					0	0	0	0
CLEC16A	23274	broad.mit.edu	37	16	11114077	11114077	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:11114077G>A	uc002dao.2	+	12	1561	c.1331G>A	c.(1330-1332)AGC>AAC	p.S444N	CLEC16A_uc002dan.3_Missense_Mutation_p.S426N	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	444								p.0?(1)		ovary(1)|central_nervous_system(1)	2						ATGGAGCGTAGCAAGCTCTCA	0.557		NA											25	58					0	0	0	0
MYH11	4629	broad.mit.edu	37	16	15870006	15870006	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:15870006C>T	uc002ddy.2	-	8	925	c.818G>A	c.(817-819)CGC>CAC	p.R273H	MYH11_uc002ddv.2_Missense_Mutation_p.R280H|MYH11_uc002ddw.2_Missense_Mutation_p.R273H|MYH11_uc002ddx.2_Missense_Mutation_p.R280H|MYH11_uc010bvg.2_Missense_Mutation_p.R105H|MYH11_uc002dea.1_5'UTR	NM_002474	NP_002465	P35749	MYH11_HUMAN	smooth muscle myosin heavy chain 11 isoform	273	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						TCTGGCTTGGCGAATTGCCCG	0.488		NA	T	CBFB	AML								118	232					0	0	0	0
PALB2	79728	broad.mit.edu	37	16	23646536	23646536	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:23646536T>C	uc002dlx.1	-	4	1531	c.1331A>G	c.(1330-1332)AAT>AGT	p.N444S		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	444					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)		TGCATCCTTATTTTTATTTTT	0.393		NA	F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				75	139					0	0	0	0
TNRC6A	27327	broad.mit.edu	37	16	24834933	24834933	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr16:24834933T>A	uc002dmm.2	+	25	5808	c.5694T>A	c.(5692-5694)AAT>AAA	p.N1898K	TNRC6A_uc010bxs.2_Missense_Mutation_p.N1645K|TNRC6A_uc002dmn.2_Missense_Mutation_p.N1596K|TNRC6A_uc002dmo.2_Missense_Mutation_p.N1537K|TNRC6A_uc002dmr.2_Missense_Mutation_p.N97K	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1898	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)		CCGATCTCAATCACTGGAATG	0.622		NA											147	287					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:7577114C>A	uc002gim.2	-	8	1018	c.824G>T	c.(823-825)TGT>TTT	p.C275F	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C275F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C143F|TP53_uc010cng.1_Missense_Mutation_p.C143F|TP53_uc002gii.1_Missense_Mutation_p.C143F|TP53_uc010cnh.1_Missense_Mutation_p.C275F|TP53_uc010cni.1_Missense_Mutation_p.C275F|TP53_uc002gij.2_Missense_Mutation_p.C275F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	275	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		C -> S (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(44)|p.C275F(34)|p.C275G(7)|p.C275W(7)|p.0?(7)|p.C275R(6)|p.C275C(4)|p.C275fs*70(2)|p.C275fs*31(2)|p.?(2)|p.C275S(2)|p.R273_C275delRVC(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.C275*(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.A276fs*29(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)		AGGACAGGCACAAACACGCAC	0.552		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)			12	35					6.4e-05	6.92e-05	1	0
SUPT6H	6830	broad.mit.edu	37	17	27017143	27017143	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:27017143A>C	uc002hby.2	+	26	3476	c.3386A>C	c.(3385-3387)GAG>GCG	p.E1129A	SUPT6H_uc010crt.2_Missense_Mutation_p.E1129A|SUPT6H_uc002hbz.1_Missense_Mutation_p.E61A	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog	1129					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)					ATCCGGGCAGAGCTGAGCTGT	0.522		NA											126	143					0	0	0	0
TUBB6	84617	broad.mit.edu	37	18	12325401	12325401	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr18:12325401G>A	uc002kqw.2	+	4	658	c.613G>A	c.(613-615)GAG>AAG	p.E205K	TUBB6_uc002kqv.2_Missense_Mutation_p.E133K|TUBB6_uc010dld.2_RNA|TUBB6_uc002kqx.2_Missense_Mutation_p.E168K|TUBB6_uc002kqy.2_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	tubulin, beta 6	205					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0				READ - Rectum adenocarcinoma(1;0.0649)		CATCGACAACGAGGCGCTCTA	0.602		NA											38	208					0	0	0	0
UPF1	5976	broad.mit.edu	37	19	18968194	18968194	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:18968194C>T	uc002nkg.2	+	15	2342	c.2067C>T	c.(2065-2067)GCC>GCT	p.A689A	UPF1_uc002nkf.2_Silent_p.A678A|UPF1_uc002nkh.2_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	689					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						CGGCCAAGGCCGGGCTGTCAC	0.647		NA											32	105					0	0	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727463	20727463	+	Missense_Mutation	SNP	T	T	C	rs10411329	by1000genomes	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:20727463T>C	uc002npa.2	-	4	1726	c.1546A>G	c.(1546-1548)AAA>GAA	p.K516E		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	516					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1						TTAAAGCCTTTGCCACATTCT	0.403		NA											3	55					0	0	0	0
PXDN	7837	broad.mit.edu	37	2	1652573	1652573	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:1652573G>A	uc002qxa.2	-	17	3043	c.2979C>T	c.(2977-2979)CGC>CGT	p.R993R		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	993					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGTTGTGCTCGCGGAACCACA	0.647		NA											7	10					0	0	0	0
DOK1	1796	broad.mit.edu	37	2	74782758	74782758	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:74782758G>T	uc002sms.2	+	3	439	c.417G>T	c.(415-417)GAG>GAT	p.E139D	LOXL3_uc010ffm.1_5'Flank|LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_5'UTR|DOK1_uc010ffo.2_5'UTR|DOK1_uc002smt.2_5'UTR|DOK1_uc002smu.2_5'UTR|DOK1_uc010yrz.1_Missense_Mutation_p.E128D|DOK1_uc002smv.2_5'UTR|DOK1_uc002smw.1_5'UTR	NM_001381	NP_001372	Q99704	DOK1_HUMAN	docking protein 1	139					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding				0						CTGCCCTGGAGATGCTGGAGA	0.587		NA											46	86					2.59e-38	2.98e-38	1	0
SNRNP200	23020	broad.mit.edu	37	2	96944428	96944428	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:96944428G>A	uc002svu.2	-	38	5431	c.5345C>T	c.(5344-5346)TCG>TTG	p.S1782L	SNRNP200_uc002svt.2_Missense_Mutation_p.S392L|SNRNP200_uc010yuj.1_RNA	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1782						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						CAAGTGGTCCGACAAGTGACG	0.567		NA											30	121					0	0	0	0
MARCO	8685	broad.mit.edu	37	2	119739968	119739968	+	Nonsense_Mutation	SNP	G	G	T	rs137938144		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:119739968G>T	uc002tln.1	+	12	1177	c.1045G>T	c.(1045-1047)GGA>TGA	p.G349*	MARCO_uc010yyf.1_Nonsense_Mutation_p.G271*	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	349	Collagen-like.|Extracellular (Potential).				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G349R(1)		ovary(3)|skin(2)|central_nervous_system(1)	6						AGGCCTGAAAGGAAGCAAAGG	0.567		NA											74	164					2.18e-87	2.55e-87	1	0
EVX2	344191	broad.mit.edu	37	2	176947052	176947052	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:176947052C>T	uc010zeu.1	-	2	739	c.553G>A	c.(553-555)GCG>ACG	p.A185T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		ACTTGATCCGCGCCAGAGCCG	0.721		NA											16	21					0	0	0	0
TMEM198	130612	broad.mit.edu	37	2	220412557	220412557	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:220412557C>T	uc002vme.2	+	4	1081	c.496C>T	c.(496-498)CGC>TGC	p.R166C	TMEM198_uc002vmf.2_Missense_Mutation_p.R166C	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	transmembrane protein 198	166	Leu-rich.					integral to membrane				ovary(1)	1		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTCACTCTGCGCTGGCCCCG	0.706		NA											19	23					0	0	0	0
MMP9	4318	broad.mit.edu	37	20	44641091	44641091	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:44641091G>A	uc002xqz.2	+	8	1219	c.1200G>A	c.(1198-1200)GCG>GCA	p.A400A		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	400					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCGTGGCGGCGCATGAGTTCG	0.652		NA											85	81					0	0	0	0
LAMA5	3911	broad.mit.edu	37	20	60900576	60900576	+	Silent	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:60900576G>T	uc002ycq.2	-	41	5392	c.5325C>A	c.(5323-5325)CGC>CGA	p.R1775R		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	1775	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACACAGTGTTGCGCGTCTCCG	0.622		NA											49	52					2.75e-27	3.12e-27	1	0
ZBTB46	140685	broad.mit.edu	37	20	62421367	62421367	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr20:62421367G>A	uc002ygv.1	-	2	945	c.744C>T	c.(742-744)GAC>GAT	p.D248D	ZBTB46_uc002ygu.2_RNA	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			large_intestine(1)|ovary(1)	2	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GTACTGCACCGTCCTTGGCAG	0.587		NA											59	110					0	0	0	0
SIK1	150094	broad.mit.edu	37	21	44837482	44837482	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr21:44837482G>A	uc002zdf.2	-	13	2044	c.1917C>T	c.(1915-1917)GGC>GGT	p.G639G		NM_173354	NP_775490	P57059	SIK1_HUMAN	salt-inducible kinase 1	639					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1)	7						CGGCTGCGCCGCCGTGCAGGC	0.771		NA											10	17					0	0	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64606848	64606848	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr3:64606848C>T	uc003dmg.2	-	19	2787	c.2755G>A	c.(2755-2757)GAT>AAT	p.D919N	ADAMTS9_uc011bfo.1_Missense_Mutation_p.D891N|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D748N|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D919N	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	919	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GGCAGCCGATCGCATCTTTGA	0.463		NA											14	31					0	0	0	0
STK32B	55351	broad.mit.edu	37	4	5170125	5170125	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr4:5170125C>T	uc003gih.1	+	3	272	c.208C>T	c.(208-210)CGG>TGG	p.R70W	STK32B_uc010ida.1_Missense_Mutation_p.R23W	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	70	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GAATGTTTTCCGGGAGCTGCA	0.537		NA											18	40					0	0	0	0
CNGA1	1259	broad.mit.edu	37	4	47939397	47939397	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr4:47939397C>T	uc003gxt.3	-	11	1380	c.1114G>A	c.(1114-1116)GAT>AAT	p.D372N	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Missense_Mutation_p.D441N	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	372	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2						TACTCAGAATCCCTCACGGGA	0.418		NA											133	176					0	0	0	0
CDH10	1008	broad.mit.edu	37	5	24537764	24537764	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr5:24537764T>C	uc003jgr.1	-	3	583	c.251A>G	c.(250-252)AAA>AGA	p.K84R	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	84	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		TCCATCTCCTTTATCTTGGTC	0.363		NA								HNSCC(23;0.051)			5	91					0	0	0	0
VCAN	1462	broad.mit.edu	37	5	82816466	82816466	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr5:82816466G>A	uc003kii.3	+	7	2697	c.2341G>A	c.(2341-2343)GAA>AAA	p.E781K	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.E781K|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	781	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAAATATGATGAAAATATTAC	0.383		NA											34	62					0	0	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26157170	26157170	+	Silent	SNP	G	G	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:26157170G>T	uc003ngq.2	+	1	612	c.552G>T	c.(550-552)GCG>GCT	p.A184A	HIST1H2BD_uc003ngr.2_5'Flank|HIST1H2BD_uc003ngs.2_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	histone cluster 1, H1e	184					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			large_intestine(1)|ovary(1)	2						CAAAAAAGGCGCCCAAGAGCC	0.567		NA											6	28					0.00198382	0.00212552	1	0
OR2J2	26707	broad.mit.edu	37	6	29141855	29141855	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:29141855C>A	uc011dlm.1	+	1	545	c.443C>A	c.(442-444)GCT>GAT	p.A148D		NM_030905	NP_112167	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J,	148	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						TTGGTTGCGGCTTCTTGGGTA	0.458		NA											213	239					2.7e-105	3.17e-105	1	0
RING1	6015	broad.mit.edu	37	6	33177826	33177826	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:33177826T>G	uc003odk.2	+	4	568	c.374T>G	c.(373-375)CTT>CGT	p.L125R	RING1_uc011dqx.1_Missense_Mutation_p.L125R|RING1_uc003odl.2_Missense_Mutation_p.L96R	NM_002931	NP_002922	Q06587	RING1_HUMAN	ring finger protein 1	125	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GACCGAGTGCTTATCCGCCTG	0.582		NA											10	49					0	0	0	0
MED23	9439	broad.mit.edu	37	6	131917292	131917292	+	Silent	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr6:131917292C>T	uc003qcs.1	-	22	2964	c.2790G>A	c.(2788-2790)GAG>GAA	p.E930E	MED23_uc003qcq.2_Silent_p.E936E|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Silent_p.E571E	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	930					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AATACAACTTCTCTGGATATT	0.378		NA											19	96					0	0	0	0
CCDC126	90693	broad.mit.edu	37	7	23682617	23682617	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:23682617C>G	uc003swl.2	+	4	763	c.306C>G	c.(304-306)AAC>AAG	p.N102K	CCDC126_uc003swm.2_Missense_Mutation_p.N102K|CCDC126_uc003swn.2_Missense_Mutation_p.N102K	NM_138771	NP_620126	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126 precursor	102						extracellular region				ovary(1)|skin(1)	2						AGCTGGAGAACAAAGTTGACT	0.393		NA											4	121					0	0	0	0
STYXL1	51657	broad.mit.edu	37	7	75633097	75633097	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:75633097G>A	uc003uej.3	-	7	849	c.676C>T	c.(676-678)CGC>TGC	p.R226C	STYXL1_uc003uef.2_Missense_Mutation_p.R32C|STYXL1_uc011kgf.1_Missense_Mutation_p.R88C|STYXL1_uc011kgg.1_Missense_Mutation_p.R78C|STYXL1_uc003ueh.2_Missense_Mutation_p.R88C|STYXL1_uc003uek.3_Missense_Mutation_p.R130C|STYXL1_uc003uel.2_Missense_Mutation_p.R226C|STYXL1_uc003uem.2_Missense_Mutation_p.R226C|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.R226C|STYXL1_uc003uen.1_Missense_Mutation_p.R226C	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	226	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0						CACATGTGGCGTAAGAAGGGA	0.557		NA											23	80					0	0	0	0
PCLO	27445	broad.mit.edu	37	7	82785121	82785121	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:82785121G>A	uc003uhx.2	-	2	1125	c.836C>T	c.(835-837)TCC>TTC	p.S279F	PCLO_uc003uhv.2_Missense_Mutation_p.S279F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	279	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGAGGCCTGGATGCATCTCG	0.478		NA											50	64					0	0	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99128811	99128811	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:99128811T>G	uc003uqv.2	+	7	1583	c.1459T>G	c.(1459-1461)TCT>GCT	p.S487A	ZKSCAN5_uc010lfx.2_Missense_Mutation_p.S487A|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.S487A|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.S414A|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.S223A	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	487					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATGGAACTATCTGGAAAAAC	0.348		NA											111	219					0	0	0	0
ARHGEF35	445328	broad.mit.edu	37	7	143884371	143884371	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr7:143884371A>G	uc003wdz.1	-	2	1224	c.1106T>C	c.(1105-1107)GTG>GCG	p.V369A		NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF)	369	Glu-rich.										0						GCTGACTGGGACCCCTTTCTC	0.537		NA											4	95					0	0	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134474117	134474117	+	Splice_Site	SNP	C	C	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr8:134474117C>A	uc003yuk.2	-	9	1678	c.849_splice	c.e9+1	p.E283_splice	ST3GAL1_uc003yum.2_Splice_Site_p.E283_splice	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GGGTGGCATACCTCATCGCAG	0.597		NA											99	164					1.94e-47	2.23e-47	1	0
APBA1	320	broad.mit.edu	37	9	72055946	72055946	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:72055946C>G	uc004ahh.2	-	11	2543	c.2267G>C	c.(2266-2268)CGC>CCC	p.R756P		NM_001163	NP_001154	Q02410	APBA1_HUMAN	amyloid beta A4 precursor protein-binding,	756	PDZ 2.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				lung(1)	1						GAGCTGGTAGCGAAGGTCTGG	0.443		NA											32	234					0	0	0	0
SPTAN1	6709	broad.mit.edu	37	9	131346592	131346592	+	Missense_Mutation	SNP	G	G	A	rs146412583		TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:131346592G>A	uc004bvl.3	+	17	2338	c.2225G>A	c.(2224-2226)CGC>CAC	p.R742H	SPTAN1_uc011mbg.1_Missense_Mutation_p.R742H|SPTAN1_uc011mbh.1_Missense_Mutation_p.R754H|SPTAN1_uc004bvm.3_Missense_Mutation_p.R742H|SPTAN1_uc004bvn.3_Missense_Mutation_p.R742H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	742	Spectrin 8.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ATTCAGGCCCGCCAGTTCCAA	0.483		NA											4	91					0	0	0	0
TTF1	7270	broad.mit.edu	37	9	135273709	135273709	+	Silent	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:135273709G>A	uc004cbl.2	-	4	1648	c.1596C>T	c.(1594-1596)GTC>GTT	p.V532V	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Silent_p.V17V	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	532					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATTTAATAGCGACACCTAGAA	0.393		NA											33	32					0	0	0	0
SEC16A	9919	broad.mit.edu	37	9	139369094	139369094	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:139369094C>T	uc004chx.2	-	3	3283	c.2974G>A	c.(2974-2976)GGA>AGA	p.G992R	SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Missense_Mutation_p.G992R|SEC16A_uc010nbn.2_Missense_Mutation_p.G992R|SEC16A_uc010nbo.1_Missense_Mutation_p.G992R	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	814					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCTAGGGCTCCGTAAGTGTCT	0.502		NA											19	34					0	0	0	0
MAN1B1	11253	broad.mit.edu	37	9	139995566	139995566	+	Silent	SNP	C	C	G			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr9:139995566C>G	uc004cld.2	+	7	1061	c.1026C>G	c.(1024-1026)GCC>GCG	p.A342A	MAN1B1_uc004clc.2_Silent_p.A243A|MAN1B1_uc011meo.1_Silent_p.A243A|MAN1B1_uc011mep.1_Silent_p.A342A|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	342	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCTGAGTGCCTACCACCTGT	0.552		NA											60	117					0	0	0	0
MED12	9968	broad.mit.edu	37	X	70356303	70356303	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:70356303G>A	uc004dyy.2	+	37	5397	c.5198G>A	c.(5197-5199)CGG>CAG	p.R1733Q	MED12_uc011mpq.1_Missense_Mutation_p.R1733Q|MED12_uc004dyz.2_Missense_Mutation_p.R1733Q|MED12_uc004dza.2_Missense_Mutation_p.R1580Q|MED12_uc010nla.2_Missense_Mutation_p.R359Q	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1733	Pro-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					CTGAGGCCCCGGCCCCGCGCC	0.642		NA											14	4					0	0	0	0
LRCH2	57631	broad.mit.edu	37	X	114357668	114357668	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chrX:114357668C>T	uc010nqe.2	-	18	1968	c.1937G>A	c.(1936-1938)CGA>CAA	p.R646Q	LRCH2_uc004epz.2_Missense_Mutation_p.R629Q	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH)	646	CH.									ovary(1)	1						TATTTGCTCTCGCTCTTCCCG	0.408		NA											14	13					0	0	0	0
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr1:214557049_214557051delCCT	uc001hkk.1	-	13	2418_2420	c.2147_2149delAGG	c.(2146-2151)GAGGCT>GCT	p.E716del	PTPN14_uc010pty.1_In_Frame_Del_p.E617del	NM_005401	NP_005392	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			breast(2)|ovary(1)|kidney(1)|skin(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626		NA											8	159	---	---	---	---	NA	NA	NA	NA
SPOP	8405	broad.mit.edu	37	17	47700125	47700126	+	Frame_Shift_Ins	INS	-	-	CCAC			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr17:47700125_47700126insCCAC	uc010dbk.2	-	3	679_680	c.47_48insGTGG	c.(46-48)GGCfs	p.G16fs	SPOP_uc002ipb.2_Frame_Shift_Ins_p.G16fs|SPOP_uc002ipc.2_Frame_Shift_Ins_p.G16fs|SPOP_uc002ipd.2_Frame_Shift_Ins_p.G16fs|SPOP_uc002ipe.2_Frame_Shift_Ins_p.G16fs|SPOP_uc002ipf.2_Frame_Shift_Ins_p.G16fs|SPOP_uc002ipg.2_Frame_Shift_Ins_p.G16fs|SPOP_uc010wlx.1_RNA	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	16					mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						CAGCTACGGGGCCACTCGACAT	0.495		NA								Prostate(2;0.17)			26	266	---	---	---	---	NA	NA	NA	NA
ZNF791	163049	broad.mit.edu	37	19	12740051	12740051	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr19:12740051delC	uc002mua.2	+	4	1870	c.1708delC	c.(1708-1710)CATfs	p.H570fs	ZNF791_uc010xml.1_Frame_Shift_Del_p.H538fs|ZNF791_uc010dyu.1_Frame_Shift_Del_p.H461fs|ZNF791_uc010xmm.1_Frame_Shift_Del_p.H461fs	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	570	C2H2-type 17.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTTAAAAAAACATATGAGAAT	0.338		NA											26	92	---	---	---	---	NA	NA	NA	NA
ALMS1	7840	broad.mit.edu	37	2	73718322	73718322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr2:73718322delT	uc002sje.1	+	12	9350	c.9239delT	c.(9238-9240)ATGfs	p.M3080fs	ALMS1_uc002sjf.1_Frame_Shift_Del_p.M3036fs|ALMS1_uc002sjg.2_Frame_Shift_Del_p.M2466fs|ALMS1_uc002sjh.1_Frame_Shift_Del_p.M2466fs	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3078					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						AAAGCGAGGATGAATAGTGAG	0.383		NA											62	124	---	---	---	---	NA	NA	NA	NA
TBC1D10A	83874	broad.mit.edu	37	22	30688463	30688478	+	Frame_Shift_Del	DEL	GGGGGCTGAGTCCTTC	GGGGGCTGAGTCCTTC	-	rs146725573	byFrequency	TCGA-CN-4725-01A-01D-1434-08	TCGA-CN-4725-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	57ffef9d-193b-48f6-8d5b-3c2eca854d93	8a585a96-f23e-4afb-b08e-2b60962fd3bd	g.chr22:30688463_30688478delGGGGGCTGAGTCCTTC	uc011akt.1	-	11	1437_1452	c.1413_1428delGAAGGACTCAGCCCCC	c.(1411-1428)CCGAAGGACTCAGCCCCCfs	p.P471fs	GATSL3_uc003ahc.2_5'Flank|GATSL3_uc003ahe.2_5'Flank|GATSL3_uc003ahd.2_5'Flank|GATSL3_uc003ahf.2_Intron|GATSL3_uc003ahg.2_Intron|GATSL3_uc003ahh.2_Intron|GATSL3_uc010gvq.2_Intron|GATSL3_uc003ahi.2_Intron|GATSL3_uc010gvr.2_5'Flank|GATSL3_uc010gvs.2_5'Flank|TBC1D10A_uc003ahj.3_Frame_Shift_Del_p.P383fs|TBC1D10A_uc010gvu.2_Frame_Shift_Del_p.P478fs|TBC1D10A_uc003ahk.3_Frame_Shift_Del_p.P471fs	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	471_476						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			ovary(1)	1						CTGAGTCCTTGGGGGCTGAGTCCTTCGGGGGCACAT	0.62		NA											44	288	---	---	---	---	NA	NA	NA	NA