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
SYF2	25949	broad.mit.edu	37	1	25549911	25549911	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:25549911C>T	uc001bjt.1	-	7	633	c.578G>A	c.(577-579)CGA>CAA	p.R193Q	SYF2_uc001bju.1_Missense_Mutation_p.R151Q	NM_015484	NP_056299	O95926	SYF2_HUMAN	SYF2 homolog, RNA splicing factor isoform 1	193						catalytic step 2 spliceosome					0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		ATATTTGTCTCGTTTTTCAAT	0.323		NA											64	178					0	0	0	0
EXTL1	2134	broad.mit.edu	37	1	26349620	26349620	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:26349620C>T	uc001blf.2	+	1	1350	c.483C>T	c.(481-483)GTC>GTT	p.V161V		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	exostoses-like 1	161	Lumenal (Potential).				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		ACCATCTGGTCCTCCGTCTCC	0.667		NA											30	69					0	0	0	0
DNAJC8	22826	broad.mit.edu	37	1	28536520	28536520	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:28536520T>A	uc001bpn.2	-	5	395	c.362A>T	c.(361-363)GAT>GTT	p.D121V	DNAJC8_uc001bpo.2_RNA	NM_014280	NP_055095	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	121	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAATTACATCCAGGGCCCT	0.428		NA											22	106					0	0	0	0
RIMS3	9783	broad.mit.edu	37	1	41107474	41107474	+	Missense_Mutation	SNP	C	C	T	rs149583022		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:41107474C>T	uc001cfu.1	-	3	593	c.124G>A	c.(124-126)GCC>ACC	p.A42T	RIMS3_uc001cfv.1_Missense_Mutation_p.A42T	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	42					neurotransmitter transport	cell junction|synapse					0	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGCTTCTTGGCGGTGGTGGTC	0.657		NA											17	62					0	0	0	0
FOXD3	27022	broad.mit.edu	37	1	63789386	63789386	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:63789386G>A	uc001dax.2	+	1	657	c.657G>A	c.(655-657)CCG>CCA	p.P219P		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	forkhead box D3	219	Fork-head.				axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0						CCCTGGACCCGCAGTCCGAGG	0.642		NA											5	186					0	0	0	0
C1orf173	127254	broad.mit.edu	37	1	75037806	75037806	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:75037806C>T	uc001dgg.2	-	14	3807	c.3588G>A	c.(3586-3588)CTG>CTA	p.L1196L		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1196	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CCCTGCTGGACAGCTCTTCTC	0.552		NA											129	198					0	0	0	0
COL24A1	255631	broad.mit.edu	37	1	86499564	86499564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:86499564C>A	uc001dlj.2	-	13	2035	c.1993G>T	c.(1993-1995)GAT>TAT	p.D665Y	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	665	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGACTGCCATCAAGACCAGCA	0.403		NA											9	35					4.69e-08	5.06e-08	1	0
CCDC18	343099	broad.mit.edu	37	1	93649684	93649684	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:93649684A>C	uc001dpq.2	+	3	806	c.638A>C	c.(637-639)CAA>CCA	p.Q213P		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	95										ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACTGATTTTCAAAAAAAGCCA	0.308		NA											17	78					0	0	0	0
C1orf88	128344	broad.mit.edu	37	1	111891150	111891150	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:111891150C>A	uc001eaw.2	+	4	351	c.271C>A	c.(271-273)CAT>AAT	p.H91N	C1orf88_uc001eax.2_Missense_Mutation_p.H58N|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_Missense_Mutation_p.H4N	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN	hypothetical protein LOC128344	91										ovary(1)|skin(1)	2		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)		AATGACACCTCATGCAGGCAG	0.363		NA											82	293					2.48e-37	2.77e-37	1	0
BCL9	607	broad.mit.edu	37	1	147094302	147094302	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:147094302C>T	uc001epq.2	+	9	3873	c.3133C>T	c.(3133-3135)CCC>TCC	p.P1045S	BCL9_uc010ozr.1_Missense_Mutation_p.P971S	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1045	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)					AGCTCGTTCTCCCAACTTGCC	0.478		NA	T	IGH@|IGL@	B-ALL								71	105					0	0	0	0
HRNR	388697	broad.mit.edu	37	1	152187698	152187698	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:152187698T>C	uc001ezt.1	-	3	6483	c.6407A>G	c.(6406-6408)CAC>CGC	p.H2136R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2136					keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTAGAGCCGTGTTGTCCGTA	0.562		NA											17	612					0	0	0	0
GATAD2B	57459	broad.mit.edu	37	1	153788833	153788833	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:153788833G>T	uc001fdb.3	-	7	1376	c.1132C>A	c.(1132-1134)CAT>AAT	p.H378N		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	378	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAAGAAATGAAGTAAGGGA	0.502		NA											18	105					5.01e-05	5.33e-05	1	0
OR6K6	128371	broad.mit.edu	37	1	158724637	158724637	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:158724637C>A	uc001fsw.1	+	1	32	c.32C>A	c.(31-33)TCC>TAC	p.S11Y		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K,	11	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_hematologic(112;0.0378)					AATCAACATTCCAATTATAGG	0.393		NA											28	87					2.13e-12	2.33e-12	1	0
ATP1A4	480	broad.mit.edu	37	1	160134194	160134194	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:160134194G>T	uc001fve.3	+	7	1506	c.1027G>T	c.(1027-1029)GGG>TGG	p.G343W	ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Na+/K+ -ATPase alpha 4 subunit isoform 1	343	Helical; (Potential).				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(2)|skin(2)	4	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGCCTGAGGGGCTGTTGGC	0.512		NA											68	263					2.1e-26	2.34e-26	1	0
BAT2L2	23215	broad.mit.edu	37	1	171492442	171492442	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:171492442G>A	uc010pmg.1	+	8	1176	c.910G>A	c.(910-912)GAG>AAG	p.E304K	BAT2L2_uc001ghr.1_Missense_Mutation_p.E306K	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	304							protein C-terminus binding				0						AGAACTGAAGGAGCTTGATAA	0.448		NA											23	29					0	0	0	0
CACYBP	27101	broad.mit.edu	37	1	174977745	174977745	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:174977745G>A	uc001gkj.1	+	5	858	c.433G>A	c.(433-435)GTC>ATC	p.V145I	CACYBP_uc001gki.1_Missense_Mutation_p.V102I	NM_014412	NP_055227	Q9HB71	CYBP_HUMAN	calcyclin binding protein isoform 1	145	Interaction with SKP1.|CS.					beta-catenin destruction complex	protein homodimerization activity				0						TTTCTTCCAGGTCAAGACTGA	0.308		NA											21	82					0	0	0	0
IPO9	55705	broad.mit.edu	37	1	201824934	201824934	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:201824934C>G	uc001gwz.2	+	10	1044	c.994C>G	c.(994-996)CTC>GTC	p.L332V		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	importin 9	332					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			ovary(2)	2						CTTTGAAAATCTCGTCTTTAG	0.328		NA											24	70					0	0	0	0
BTG2	7832	broad.mit.edu	37	1	203276399	203276399	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:203276399G>A	uc001gzq.2	+	2	381	c.310G>A	c.(310-312)GTG>ATG	p.V104M	FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	NM_006763	NP_006754	P78543	BTG2_HUMAN	B-cell translocation gene 2	104					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(1)|kidney(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.203)			GACCCTGTGGGTGGACCCCTA	0.652		NA											48	82					0	0	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127192	226127192	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:226127192C>T	uc001hpt.1	-	3	686	c.606G>A	c.(604-606)TCG>TCA	p.S202S	LEFTY2_uc010pvk.1_Silent_p.S168S|LEFTY2_uc009xek.1_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	endometrial bleeding associated factor	202					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding				0	Breast(184;0.197)					CCCTCTGCACCGACACCTGTA	0.721		NA											6	21					0	0	0	0
RYR2	6262	broad.mit.edu	37	1	237829847	237829847	+	Silent	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:237829847G>T	uc001hyl.1	+	57	8592	c.8472G>T	c.(8470-8472)CGG>CGT	p.R2824R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	2824	Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGTCCCCGGGCCATTGACA	0.363		NA											11	23					3.04e-14	3.34e-14	1	0
CUBN	8029	broad.mit.edu	37	10	16994278	16994278	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:16994278G>C	uc001ioo.2	-	33	5018	c.4966C>G	c.(4966-4968)CCA>GCA	p.P1656A		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	1656	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TACTTACATGGAGGTTGCGCT	0.438		NA											26	89					0	0	0	0
SVIL	6840	broad.mit.edu	37	10	29762869	29762869	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:29762869C>G	uc001iut.1	-	30	6180	c.5427G>C	c.(5425-5427)GAG>GAC	p.E1809D	LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.E723D|SVIL_uc001iuu.1_Missense_Mutation_p.E1383D	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	1809	Gelsolin-like 3.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				AGACGCACTTCTCTTTGCCGG	0.627		NA											15	50					0	0	0	0
MAP3K8	1326	broad.mit.edu	37	10	30749693	30749693	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:30749693C>T	uc001ivi.1	+	9	2028	c.1332C>T	c.(1330-1332)CTC>CTT	p.L444L	MAP3K8_uc009xlf.1_Silent_p.L444L|MAP3K8_uc001ivj.1_Silent_p.L444L	NM_005204	NP_005195	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase	444			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(3)|central_nervous_system(1)	4		Prostate(175;0.151)				AACGCTCTCTCTACATCGACC	0.463		NA											73	110					0	0	0	0
C10orf79	80217	broad.mit.edu	37	10	105974155	105974155	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:105974155T>G	uc001kxw.2	-	4	562	c.446A>C	c.(445-447)AAG>ACG	p.K149T	C10orf79_uc001kxx.3_Missense_Mutation_p.K149T|C10orf79_uc001kxy.1_Missense_Mutation_p.K149T|C10orf79_uc001kxz.2_Missense_Mutation_p.K149T	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	hypothetical protein LOC80217	149	WD 1.										0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)		CTGTGATTTCTTACACAAAAT	0.373		NA											42	56					0	0	0	0
SORCS3	22986	broad.mit.edu	37	10	107022174	107022174	+	Missense_Mutation	SNP	G	G	A	rs140421862		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:107022174G>A	uc001kyi.1	+	26	3756	c.3529G>A	c.(3529-3531)GCC>ACC	p.A1177T		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	1177	Cytoplasmic (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAGTGAAAACGCCCCCAAAAT	0.507		NA											51	64					0	0	0	0
SORCS1	114815	broad.mit.edu	37	10	108337272	108337272	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:108337272G>A	uc001kym.2	-	26	3421	c.3413C>T	c.(3412-3414)CCT>CTT	p.P1138L	SORCS1_uc001kyl.2_Intron|SORCS1_uc009xxs.2_Intron|SORCS1_uc001kyn.1_3'UTR	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	1138	Cytoplasmic (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGAGTCACCAGGTTGAGTAGA	0.493		NA											5	179					0	0	0	0
EBF3	253738	broad.mit.edu	37	10	131640456	131640456	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:131640456C>T	uc001lki.1	-	13	1328	c.1269G>A	c.(1267-1269)ACG>ACA	p.T423T		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	432					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCATCATGCCCGTGTGTGCAG	0.602		NA											98	167					0	0	0	0
DPYSL4	10570	broad.mit.edu	37	10	134004265	134004265	+	Silent	SNP	G	G	A	rs137897999		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:134004265G>A	uc009ybb.2	+	2	208	c.54G>A	c.(52-54)CTG>CTA	p.L18L		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	18					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACCGCCTTCTGATCAGAGGTG	0.438		NA											18	84					0	0	0	0
OR52E4	390081	broad.mit.edu	37	11	5905675	5905675	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:5905675C>G	uc010qzs.1	+	1	153	c.153C>G	c.(151-153)ATC>ATG	p.I51M	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	51	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTTGTGATCAAAACTGAAC	0.428		NA											82	290					0	0	0	0
SMPD1	6609	broad.mit.edu	37	11	6414465	6414465	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:6414465C>G	uc001mcw.2	+	3	1285	c.1111C>G	c.(1111-1113)CTT>GTT	p.L371V	SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_Intron|SMPD1_uc001mcx.2_Intron|SMPD1_uc009yew.2_Missense_Mutation_p.L370V	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	369					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GTTCTATGCTCTTTCCCCATA	0.493		NA											10	58					0	0	0	0
PTPMT1	114971	broad.mit.edu	37	11	47593175	47593175	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:47593175G>C	uc001nfs.3	+	4	793	c.600G>C	c.(598-600)AAG>AAC	p.K200N	PTPMT1_uc001nfv.3_3'UTR|PTPMT1_uc009ylt.2_Missense_Mutation_p.K136N|PTPMT1_uc001nfu.3_3'UTR|NDUFS3_uc001nft.3_5'UTR	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	200					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			skin(1)	1						TCATTTCAAAGACATGATGTA	0.453		NA											31	184					0	0	0	0
OR4A47	403253	broad.mit.edu	37	11	48510955	48510955	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:48510955C>A	uc010rhx.1	+	1	611	c.611C>A	c.(610-612)GCT>GAT	p.A204D		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						GGAGGACTGGCTTGCACTATT	0.443		NA											121	126					5.67e-43	6.37e-43	1	0
OR8I2	120586	broad.mit.edu	37	11	55861087	55861087	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:55861087T>C	uc010rix.1	+	1	304	c.304T>C	c.(304-306)TAC>CAC	p.Y102H		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)	1	Esophageal squamous(21;0.00693)					TGTTCAAATGTACTTTTTTGT	0.398		NA											122	146					0	0	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069409	57069409	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:57069409C>T	uc001njr.2	-	8	5155	c.4843G>A	c.(4843-4845)GCA>ACA	p.A1615T	TNKS1BP1_uc001njp.2_Missense_Mutation_p.A187T|TNKS1BP1_uc001njq.2_Missense_Mutation_p.A188T|TNKS1BP1_uc001njs.2_Missense_Mutation_p.A1615T	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1615	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)				ACCCGAGATGCCCGTGGCTCT	0.587		NA											4	106					0	0	0	0
MS4A1	931	broad.mit.edu	37	11	60234505	60234505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:60234505G>A	uc001npp.2	+	7	1063	c.647G>A	c.(646-648)TGG>TAG	p.W216*	MS4A1_uc001npq.2_Nonsense_Mutation_p.W216*|MS4A1_uc009yna.2_Nonsense_Mutation_p.W216*|MS4A1_uc009ymz.2_Nonsense_Mutation_p.W203*|MS4A1_uc010rlc.1_Nonsense_Mutation_p.W49*	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member	216	Cytoplasmic (Potential).				B cell activation|immune response	integral to plasma membrane				ovary(3)|lung(2)	5					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GAGAATGAATGGAAAAGAACG	0.433		NA											4	151					0	0	0	0
MTA2	9219	broad.mit.edu	37	11	62361854	62361854	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:62361854G>C	uc001ntq.1	-	17	2099	c.1718C>G	c.(1717-1719)TCT>TGT	p.S573C	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.S400C	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	573					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						TCCATTGGCAGAGAAAGGAAC	0.557		NA											21	71					0	0	0	0
MTA2	9219	broad.mit.edu	37	11	62362037	62362037	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:62362037G>A	uc001ntq.1	-	16	2024	c.1643C>T	c.(1642-1644)TCC>TTC	p.S548F	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.S375F	NM_004739	NP_004730	O94776	MTA2_HUMAN	metastasis-associated protein 2	548					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						CCGGTTCTGGGACAGCTGGTT	0.527		NA											30	124					0	0	0	0
PYGM	5837	broad.mit.edu	37	11	64519902	64519902	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:64519902G>A	uc001oax.3	-	13	2410	c.1593C>T	c.(1591-1593)TTC>TTT	p.F531F	PYGM_uc001oay.3_Silent_p.F443F	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	531					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)	CATCCCGAATGAAAGCTTCAT	0.557		NA											14	83					0	0	0	0
AIP	9049	broad.mit.edu	37	11	67257514	67257514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:67257514G>C	uc001olv.2	+	4	599	c.474G>C	c.(472-474)GAG>GAC	p.E158D		NM_003977	NP_003968	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	158					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding				0						TGCAGGTGGAGAGCCCTGGCA	0.647		NA							Familial_Isolated_Pituitary_Adenoma_				8	4					0	0	0	0
FOLR4	390243	broad.mit.edu	37	11	94038883	94038883	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:94038883C>T	uc010rud.1	+	1	81	c.81C>T	c.(79-81)TGC>TGT	p.C27C		NM_001080486	NP_001073955	A6ND01	FOLR4_HUMAN	folate receptor 4 (delta) homolog	27						extracellular region	folic acid binding|receptor activity			ovary(1)	1						TCAACATCTGCATGAATGCCA	0.587		NA											63	65					0	0	0	0
VPS11	55823	broad.mit.edu	37	11	118949887	118949887	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:118949887G>A	uc010ryx.1	+	15	2357	c.2315G>A	c.(2314-2316)AGG>AAG	p.R772K	VPS11_uc010ryy.1_Missense_Mutation_p.R618K	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	772	Potential.				protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TCCGTCATCAGGGACTACCTG	0.572		NA											8	34					0	0	0	0
KCNA1	3736	broad.mit.edu	37	12	5021957	5021957	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:5021957C>G	uc001qnh.2	+	2	2518	c.1413C>G	c.(1411-1413)GTC>GTG	p.V471V		NM_000217	NP_000208	Q09470	KCNA1_HUMAN	potassium voltage-gated channel subfamily A	471					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			ovary(1)|skin(1)	2					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATAGACAGGTCAATATCAGAA	0.413		NA											40	231					0	0	0	0
ZNF384	171017	broad.mit.edu	37	12	6787551	6787551	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:6787551G>A	uc010sfh.1	-	6	636	c.428C>T	c.(427-429)TCG>TTG	p.S143L	ZNF384_uc001qpz.2_Missense_Mutation_p.S143L|ZNF384_uc001qqa.2_Missense_Mutation_p.S143L|ZNF384_uc001qqb.2_Missense_Mutation_p.S127L|ZNF384_uc001qqc.2_Missense_Mutation_p.S143L|ZNF384_uc001qqd.2_Intron|ZNF384_uc001qqe.2_Missense_Mutation_p.S127L|ZNF384_uc009zew.1_5'UTR	NM_001135734	NP_001129206	Q8TF68	ZN384_HUMAN	nuclear matrix transcription factor 4 isoform d	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1)	8						CATGGGAGCCGAAATGGGGAA	0.552		NA	T	EWSR1|TAF15 	ALL								3	50					0	0	0	0
TM7SF3	51768	broad.mit.edu	37	12	27148270	27148270	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:27148270T>C	uc010sjl.1	-	5	828	c.590A>G	c.(589-591)TAT>TGT	p.Y197C		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3 precursor	197						integral to membrane|plasma membrane				upper_aerodigestive_tract(2)	2	Colorectal(261;0.0847)					AAAATACTGATAGACATCATA	0.507		NA											49	59					0	0	0	0
GPD1	2819	broad.mit.edu	37	12	50500210	50500210	+	Splice_Site	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:50500210G>C	uc001rvz.2	+	4	532	c.499_splice	c.e4+1	p.G167_splice	GPD1_uc001rwa.2_Splice_Site_p.G144_splice	NM_005276	NP_005267	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)						glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity				0					NADH(DB00157)	ACAACCATTGGTGAGAGCCCC	0.567		NA											15	49					0	0	0	0
KRT6C	286887	broad.mit.edu	37	12	52864386	52864386	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:52864386C>G	uc001sal.3	-	6	1154	c.1106G>C	c.(1105-1107)AGA>ACA	p.R369T		NM_173086	NP_775109	P48668	K2C6C_HUMAN	keratin 6C	369	Rod.|Coil 2.				cytoskeleton organization	keratin filament	structural molecule activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTCCCCATGTCTGCCTGCTGT	0.547		NA											28	114					0	0	0	0
KRT78	196374	broad.mit.edu	37	12	53240016	53240016	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:53240016C>T	uc001sbc.1	-	4	785	c.721G>A	c.(721-723)GAG>AAG	p.E241K		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	241	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			ovary(2)	2						TAGAGGTACTCTCTCAGAGCC	0.552		NA											19	66					0	0	0	0
AVPR1A	552	broad.mit.edu	37	12	63541363	63541363	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:63541363G>T	uc001sro.1	-	2	3007	c.1033C>A	c.(1033-1035)CCC>ACC	p.P345T		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	345	Helical; Name=7; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TATATCCAGGGATTACAGCAG	0.388		NA											70	109					1.35e-36	1.5e-36	1	0
DYRK2	8445	broad.mit.edu	37	12	68052255	68052255	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:68052255G>A	uc001str.3	+	3	1970	c.1568G>A	c.(1567-1569)CGC>CAC	p.R523H	DYRK2_uc001sts.3_Missense_Mutation_p.R450H	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	523	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CCTGCAGTGCGCATGACCCCA	0.577		NA											4	154					0	0	0	0
ACSS3	79611	broad.mit.edu	37	12	81471976	81471976	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:81471976C>T	uc001szl.1	+	1	168	c.77C>T	c.(76-78)CCG>CTG	p.P26L	ACSS3_uc001szm.1_Missense_Mutation_p.P26L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	26						mitochondrion	acetate-CoA ligase activity|ATP binding			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						GGGTCCTCTCCGGCCCGGGGA	0.741		NA											7	9					0	0	0	0
MED13L	23389	broad.mit.edu	37	12	116420250	116420250	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:116420250C>T	uc001tvw.2	-	22	5169	c.5114G>A	c.(5113-5115)CGC>CAC	p.R1705H		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1705					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTGTAGCAGCGCATCAAGCT	0.438		NA											55	82					0	0	0	0
AACS	65985	broad.mit.edu	37	12	125621304	125621304	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:125621304G>A	uc001uhc.2	+	17	1981	c.1775G>A	c.(1774-1776)GGG>GAG	p.G592E	AACS_uc001uhd.2_Intron|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_Missense_Mutation_p.G190E	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	592					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATGGCCTCCGGGCACGCCTTC	0.592		NA											72	82					0	0	0	0
KLHL1	57626	broad.mit.edu	37	13	70413285	70413285	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr13:70413285C>T	uc001vip.2	-	6	2031	c.1237G>A	c.(1237-1239)GAC>AAC	p.D413N	KLHL1_uc010thm.1_Missense_Mutation_p.D352N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	413					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTTTCTAGGTCAGCCAATATC	0.299		NA											64	77					0	0	0	0
OR11H6	122748	broad.mit.edu	37	14	20692282	20692282	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr14:20692282T>A	uc010tlc.1	+	1	414	c.414T>A	c.(412-414)TAT>TAA	p.Y138*		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H,	138	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTATGGCTTATGATCGGTACC	0.428		NA											136	188					0	0	0	0
CDH24	64403	broad.mit.edu	37	14	23524350	23524350	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr14:23524350G>C	uc001wil.2	-	3	674	c.414C>G	c.(412-414)ATC>ATG	p.I138M	CDH24_uc010akf.2_Missense_Mutation_p.I138M|CDH24_uc001win.3_Missense_Mutation_p.I138M	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	cadherin-like 24 isoform 1	138	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			central_nervous_system(1)	1	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTTGCACTTTGATGATGAACT	0.587		NA									OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	182					0	0	0	0
TJP1	7082	broad.mit.edu	37	15	30019044	30019044	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:30019044G>A	uc001zcr.2	-	17	2727	c.2252C>T	c.(2251-2253)GCC>GTC	p.A751V	TJP1_uc010azl.2_Missense_Mutation_p.A739V|TJP1_uc001zcq.2_Missense_Mutation_p.A755V|TJP1_uc001zcs.2_Missense_Mutation_p.A751V	NM_003257	NP_003248	Q07157	ZO1_HUMAN	tight junction protein 1 isoform a	751	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				ovary(4)|central_nervous_system(1)|pancreas(1)	6		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TAACTTCCTGGCACTTTTCCG	0.363		NA											4	202					0	0	0	0
CCPG1	9236	broad.mit.edu	37	15	55652461	55652461	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:55652461C>A	uc002acv.1	-	8	1675	c.1510G>T	c.(1510-1512)GTA>TTA	p.V504L	CCPG1_uc002acy.2_Missense_Mutation_p.V504L|CCPG1_uc002acu.1_Missense_Mutation_p.V360L|CCPG1_uc002acw.1_Missense_Mutation_p.V229L|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.V504L|CCPG1_uc002acz.1_Missense_Mutation_p.V504L	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	504	Lumenal (Potential).|Potential.				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TGATGCCTTACAAACTCCTTG	0.363		NA											184	205					4.05e-71	4.56e-71	1	0
IQCH	64799	broad.mit.edu	37	15	67681204	67681204	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:67681204C>T	uc002aqo.1	+	12	1539	c.1492C>T	c.(1492-1494)CAT>TAT	p.H498Y	IQCH_uc002aqq.1_Missense_Mutation_p.H246Y|IQCH_uc002aqp.1_Missense_Mutation_p.H250Y	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H isoform 1	498										skin(3)|ovary(1)	4				Colorectal(3;0.0856)		CTGCTCCCATCATATGAATGA	0.408		NA											6	166					0	0	0	0
KIF7	374654	broad.mit.edu	37	15	90176982	90176982	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:90176982G>A	uc002bof.2	-	12	2604	c.2527C>T	c.(2527-2529)CGC>TGC	p.R843C	KIF7_uc010upw.1_Missense_Mutation_p.R329C	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	kinesin family member 7	843	Potential.				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			ovary(2)|lung(1)	3	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTCTCCTCGCGAAGCCGCCTC	0.657		NA											5	20					0	0	0	0
LUC7L	55692	broad.mit.edu	37	16	240001	240001	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:240001G>A	uc002cgc.1	-	9	1051	c.940C>T	c.(940-942)CGT>TGT	p.R314C	LUC7L_uc002cga.1_Missense_Mutation_p.R314C|LUC7L_uc002cgd.1_RNA|LUC7L_uc002cge.1_Missense_Mutation_p.R314C|LUC7L_uc002cgb.1_Missense_Mutation_p.R228C	NM_201412	NP_958815	Q9NQ29	LUC7L_HUMAN	LUC7-like isoform b	314	Arg/Ser-rich.						metal ion binding			central_nervous_system(1)	1		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GAAGCCCGACGATGTCCCCGG	0.607		NA											129	545					0	0	0	0
ADCY9	115	broad.mit.edu	37	16	4164183	4164183	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:4164183C>T	uc002cvx.2	-	2	1800	c.1261G>A	c.(1261-1263)GAT>AAT	p.D421N		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	421	Cytoplasmic (Potential).|Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						CCGAACAGATCGTTCAGGAGA	0.552		NA											28	135					0	0	0	0
NMRAL1	57407	broad.mit.edu	37	16	4519402	4519402	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:4519402C>T	uc002cwm.2	-	3	261	c.105G>A	c.(103-105)GTG>GTA	p.V35V	NMRAL1_uc002cwn.2_Silent_p.V35V|NMRAL1_uc002cwo.2_Silent_p.V35V|NMRAL1_uc002cwp.2_Silent_p.V71V	NM_020677	NP_065728	Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	35						nucleus|perinuclear region of cytoplasm	binding			kidney(1)	1						GGTTTCGGGTCACCACTCGAA	0.562		NA											150	328					0	0	0	0
KIAA0556	23247	broad.mit.edu	37	16	27772758	27772758	+	Missense_Mutation	SNP	C	C	G	rs71389807		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:27772758C>G	uc002dow.2	+	19	3680	c.3656C>G	c.(3655-3657)TCC>TGC	p.S1219C		NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1219										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8						TTCACTGCCTCCTGGGGAGAC	0.587		NA											24	140					0	0	0	0
GDPD3	79153	broad.mit.edu	37	16	30122798	30122798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:30122798C>T	uc002dwp.2	-	7	697	c.618G>A	c.(616-618)TGG>TGA	p.W206*	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_Nonsense_Mutation_p.W144*|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	206	Helical; (Potential).|GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0						AAAGCAGCACCCAGAATCCTC	0.557		NA											98	229					0	0	0	0
C16orf78	123970	broad.mit.edu	37	16	49430524	49430524	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:49430524G>T	uc002efr.2	+	4	628	c.585G>T	c.(583-585)GAG>GAT	p.E195D		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	hypothetical protein LOC123970	195										central_nervous_system(1)	1						GCCTCATGGAGAAAAGCACCG	0.547		NA											21	32					7.45e-12	8.13e-12	1	0
CES1	1066	broad.mit.edu	37	16	55846957	55846957	+	Splice_Site	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:55846957T>A	uc002eim.2	-	9	1051	c.943_splice	c.e9-1	p.S315_splice	CES1_uc010ccf.2_Intron|CES1_uc002eil.2_Splice_Site_p.S316_splice|CES1_uc002ein.2_Splice_Site_p.S315_splice	NM_001025194	NP_001020365	P23141	EST1_HUMAN	carboxylesterase 1 isoform b precursor						response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGGTTGACTCTGGGGAGAGAG	0.542		NA											67	101					0	0	0	0
HERPUD1	9709	broad.mit.edu	37	16	56977167	56977167	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:56977167C>G	uc002eke.1	+	8	1550	c.1141C>G	c.(1141-1143)CTT>GTT	p.L381V	HERPUD1_uc002ekf.1_Missense_Mutation_p.L380V|HERPUD1_uc002ekg.1_Missense_Mutation_p.L356V|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Missense_Mutation_p.L283V|HERPUD1_uc002ekh.1_Missense_Mutation_p.L199V	NM_014685	NP_055500	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum	381	Cytoplasmic (Potential).					endoplasmic reticulum membrane|integral to membrane	protein binding				0						CTTTGCCTCTCTTCTTCCAGA	0.532		NA	T	ERG	prostate								113	553					0	0	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348470	89348470	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:89348470G>A	uc002fmx.1	-	9	4941	c.4480C>T	c.(4480-4482)CGG>TGG	p.R1494W	ANKRD11_uc002fmy.1_Missense_Mutation_p.R1494W|ANKRD11_uc002fnc.1_Missense_Mutation_p.R1494W|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.R1451W	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1494	Lys-rich.					nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGTGATGCCGCAGGAGCTCG	0.537		NA											21	68					0	0	0	0
TAOK1	57551	broad.mit.edu	37	17	27837971	27837971	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:27837971G>A	uc002hdz.1	+	15	1859	c.1665G>A	c.(1663-1665)CAG>CAA	p.Q555Q	TAOK1_uc010wbe.1_Silent_p.Q555Q|TAOK1_uc010wbf.1_Silent_p.Q555Q|TAOK1_uc002heb.1_Silent_p.Q381Q	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	555	Potential.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)			TCGAGTCCCAGAAAAGAGAGT	0.338		NA											13	159					0	0	0	0
ERBB2	2064	broad.mit.edu	37	17	37881982	37881982	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37881982G>A	uc002hso.2	+	23	2986	c.2748G>A	c.(2746-2748)ATG>ATA	p.M916I	ERBB2_uc002hsm.2_Missense_Mutation_p.M886I|ERBB2_uc010cwa.2_Missense_Mutation_p.M901I|ERBB2_uc002hsp.2_Missense_Mutation_p.M719I|ERBB2_uc010cwb.2_Missense_Mutation_p.M916I|ERBB2_uc010wek.1_Missense_Mutation_p.M640I	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	916	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGGAGCTGATGACTTTTGGGG	0.602		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			7	110					0	0	0	0
ERBB2	2064	broad.mit.edu	37	17	37882022	37882022	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37882022G>A	uc002hso.2	+	23	3026	c.2788G>A	c.(2788-2790)GAG>AAG	p.E930K	ERBB2_uc002hsm.2_Missense_Mutation_p.E900K|ERBB2_uc010cwa.2_Missense_Mutation_p.E915K|ERBB2_uc002hsp.2_Missense_Mutation_p.E733K|ERBB2_uc010cwb.2_Missense_Mutation_p.E930K|ERBB2_uc010wek.1_Missense_Mutation_p.E654K	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	930	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCCAGCCCGGGAGATCCCTGA	0.592		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			6	110					0	0	0	0
ERBB2	2064	broad.mit.edu	37	17	37883578	37883578	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37883578G>C	uc002hso.2	+	26	3428	c.3190G>C	c.(3190-3192)GAG>CAG	p.E1064Q	ERBB2_uc002hsm.2_Missense_Mutation_p.E1034Q|ERBB2_uc010cwa.2_Missense_Mutation_p.E1049Q|ERBB2_uc002hsp.2_Missense_Mutation_p.E867Q|ERBB2_uc010cwb.2_Intron|ERBB2_uc010wek.1_Missense_Mutation_p.E788Q	NM_004448	NP_004439	P04626	ERBB2_HUMAN	erbB-2 isoform a	1064	Cytoplasmic (Potential).				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1)	143	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACTAGGGCTGGAGCCCTCTGA	0.612		1	A|Mis|O		breast|ovarian|other tumour types|NSCLC|gastric					TCGA GBM(5;<1E-08)			4	105					0	0	0	0
PSMD3	5709	broad.mit.edu	37	17	38142913	38142913	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:38142913A>G	uc002htn.1	+	3	661	c.497A>G	c.(496-498)TAT>TGT	p.Y166C	PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Missense_Mutation_p.Y67C	NM_002809	NP_002800	O43242	PSMD3_HUMAN	proteasome 26S non-ATPase subunit 3	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			ovary(1)|pancreas(1)	2	Colorectal(19;0.000442)					GTGGAAGCCTATCTCCAACTC	0.537		NA											139	219					0	0	0	0
RARA	5914	broad.mit.edu	37	17	38487504	38487504	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:38487504G>T	uc002huk.1	+	2	489	c.34G>T	c.(34-36)GGG>TGG	p.G12W	RARA_uc002hul.3_Missense_Mutation_p.G12W|RARA_uc010wfe.1_Missense_Mutation_p.G12W	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	12	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCCGACACCTGGGGGCGGGCA	0.662		NA	T	PML|ZNF145|TIF1|NUMA1|NPM1	APL								23	122					3.29e-13	3.6e-13	1	0
ATP6V0A1	535	broad.mit.edu	37	17	40665994	40665994	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:40665994C>T	uc002hzr.2	+	20	2413	c.2246C>T	c.(2245-2247)GCG>GTG	p.A749V	ATP6V0A1_uc002hzq.2_Missense_Mutation_p.A743V|ATP6V0A1_uc002hzs.2_Missense_Mutation_p.A750V|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.A706V|ATP6V0A1_uc010wgk.1_Missense_Mutation_p.A700V|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.A395V|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.A608V|ATP6V0A1_uc002hzt.2_Missense_Mutation_p.A33V	NM_001130021	NP_001123493	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	749	Helical; (Potential).				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			pancreas(1)	1		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTCGCTCATGCGCGTGAGTAC	0.582		NA											4	235					0	0	0	0
HLF	3131	broad.mit.edu	37	17	53345376	53345376	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:53345376G>A	uc002iug.1	+	2	905	c.380G>A	c.(379-381)AGC>AAC	p.S127N	HLF_uc010dce.1_Missense_Mutation_p.S42N|HLF_uc002iuh.2_Missense_Mutation_p.S42N|HLF_uc010wni.1_Missense_Mutation_p.A76T	NM_002126	NP_002117	Q16534	HLF_HUMAN	hepatic leukemia factor	127					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						ATGGACCTCAGCAGCCGGGCC	0.617		NA	T	TCF3	ALL								49	205					0	0	0	0
FTSJ3	117246	broad.mit.edu	37	17	61901558	61901558	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:61901558G>C	uc002jbz.2	-	11	1118	c.1040C>G	c.(1039-1041)TCA>TGA	p.S347*	FTSJ3_uc002jca.2_Nonsense_Mutation_p.S347*	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	347					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						TCCAGCTGTTGAGTCCTCCTC	0.453		NA											17	374					0	0	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902698	61902698	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:61902698G>A	uc002jbz.2	-	6	577	c.499C>T	c.(499-501)CTG>TTG	p.L167L	FTSJ3_uc002jca.2_Silent_p.L167L|PSMC5_uc002jcb.2_5'Flank|PSMC5_uc010ddy.2_5'Flank|PSMC5_uc010ddz.2_5'Flank|PSMC5_uc002jcc.2_5'Flank|PSMC5_uc002jcd.2_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	167					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						ATCCATAGCAGAGGCTGATAG	0.532		NA											7	113					0	0	0	0
C17orf28	283987	broad.mit.edu	37	17	72955992	72955992	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:72955992C>T	uc002jmj.3	-	8	1141	c.992G>A	c.(991-993)CGC>CAC	p.R331H	C17orf28_uc010wrs.1_Missense_Mutation_p.R130H|C17orf28_uc002jmk.2_Missense_Mutation_p.R330H	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	hypothetical protein LOC283987	331						integral to membrane|plasma membrane	protein binding				0	all_lung(278;0.151)|Lung NSC(278;0.185)					ACGATGGATGCGGGACAGGTA	0.627		NA											5	316					0	0	0	0
EPB41L3	23136	broad.mit.edu	37	18	5478351	5478351	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:5478351T>A	uc002kmt.1	-	3	356	c.270A>T	c.(268-270)AAA>AAT	p.K90N	EPB41L3_uc010wzh.1_Missense_Mutation_p.K90N|EPB41L3_uc002kmu.1_Missense_Mutation_p.K90N|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.K112N|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	90					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						TGCTAGATGATTTCTGAGAAA	0.413		NA											53	111					0	0	0	0
LRRC30	339291	broad.mit.edu	37	18	7231916	7231916	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:7231916C>T	uc010wzk.1	+	1	780	c.780C>T	c.(778-780)ATC>ATT	p.I260I		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	260										ovary(1)|liver(1)	2						TGGTGAGGATCGCCTGGAATC	0.587		NA											184	224					0	0	0	0
CDH19	28513	broad.mit.edu	37	18	64178822	64178822	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:64178822G>C	uc002lkc.1	-	10	1697	c.1559C>G	c.(1558-1560)ACA>AGA	p.T520R	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	520	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)				ATCTATGATTGTAAAACTTGA	0.308		NA											35	37					0	0	0	0
UHRF1	29128	broad.mit.edu	37	19	4932906	4932907	+	Missense_Mutation	DNP	GG	GG	AC			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:4932906_4932907GG>AC	uc002mbo.2	+	5	891_892	c.723_724GG>AC	c.(721-726)GCGGAG>GCACAG	p.E242Q	UHRF1_uc010xik.1_Intron|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Missense_Mutation_p.E255Q	NM_001048201	NP_001041666	Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains	242					cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGTACGACGCGGAGATCTCCAG	0.653		NA											18	50					0	0	0	0
ZNF358	140467	broad.mit.edu	37	19	7584188	7584188	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:7584188A>T	uc002mgn.2	+	2	230	c.60A>T	c.(58-60)GAA>GAT	p.E20D		NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	20					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CCGTTTATGAAGAGCTCGACT	0.582		NA											81	100					0	0	0	0
ZNF317	57693	broad.mit.edu	37	19	9271903	9271903	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:9271903A>T	uc002mku.2	+	7	1857	c.1582A>T	c.(1582-1584)AAA>TAA	p.K528*	ZNF317_uc002mkv.2_Nonsense_Mutation_p.K387*|ZNF317_uc002mkw.2_Nonsense_Mutation_p.K496*|ZNF317_uc002mkx.2_Nonsense_Mutation_p.K443*|ZNF317_uc002mky.2_Nonsense_Mutation_p.K411*	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CACGGGGGAGAAACCGTACGA	0.557		NA											14	62					0	0	0	0
ZNF676	163223	broad.mit.edu	37	19	22363091	22363091	+	Silent	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:22363091A>G	uc002nqs.1	-	3	1746	c.1428T>C	c.(1426-1428)CCT>CCC	p.P476P		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAAGGTTTCTCTG	0.388		NA											38	151					0	0	0	0
ZNF676	163223	broad.mit.edu	37	19	22363101	22363101	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:22363101G>C	uc002nqs.1	-	3	1736	c.1418C>G	c.(1417-1419)GCA>GGA	p.A473G		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGGTTTCTCTGCAGCATGAAT	0.388		NA											22	159					0	0	0	0
ZNF790	388536	broad.mit.edu	37	19	37309350	37309350	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:37309350G>T	uc002oew.2	-	5	2015	c.1896C>A	c.(1894-1896)TTC>TTA	p.F632L	uc002oev.1_Intron	NM_206894	NP_996777	Q6PG37	ZN790_HUMAN	zinc finger protein 790	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|skin(1)	2	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAGTGAAATGAAGTGAGAGC	0.308		NA											4	95					0.00024832	0.00026197	1	0
ZNF570	148268	broad.mit.edu	37	19	37974837	37974837	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:37974837G>C	uc002ogk.1	+	5	842	c.313G>C	c.(313-315)GAA>CAA	p.E105Q	ZNF570_uc010efl.1_Missense_Mutation_p.E161Q|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTTATGAAGAACATCAATC	0.363		NA											36	157					0	0	0	0
PRPF31	26121	broad.mit.edu	37	19	54621975	54621975	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:54621975T>C	uc002qdh.2	+	3	596	c.200T>C	c.(199-201)ATT>ACT	p.I67T	TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.I67T	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31 homolog	67					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			ovary(1)	1	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ATGATGAAGATTGAGGAGTAT	0.512		NA											40	215					0	0	0	0
NLRP9	338321	broad.mit.edu	37	19	56241286	56241286	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:56241286T>G	uc002qly.2	-	3	1933	c.1905A>C	c.(1903-1905)TTA>TTC	p.L635F		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	635						cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCCATGTCTAAAATCTGGA	0.423		NA											50	83					0	0	0	0
APOB	338	broad.mit.edu	37	2	21231200	21231200	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:21231200C>A	uc002red.2	-	26	8668	c.8540G>T	c.(8539-8541)GGA>GTA	p.G2847V		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2847					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATAGCATTTCCAAAAAACAG	0.413		NA											61	271					5.86e-21	6.5e-21	1	0
EHD3	30845	broad.mit.edu	37	2	31483527	31483527	+	Silent	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:31483527G>C	uc002rnu.2	+	4	1262	c.654G>C	c.(652-654)CTG>CTC	p.L218L	EHD3_uc010ymt.1_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	218	Potential.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)					GAGTGGTGCTGAACAAAGCTG	0.547		NA											18	59					0	0	0	0
BIRC6	57448	broad.mit.edu	37	2	32701366	32701366	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:32701366A>G	uc010ezu.2	+	34	6940	c.6806A>G	c.(6805-6807)TAT>TGT	p.Y2269C		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	2269					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGATCATCATATAAACTCCTG	0.318		NA											3	6					0	0	0	0
MAP4K3	8491	broad.mit.edu	37	2	39517434	39517434	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:39517434T>A	uc002rro.2	-	19	1404	c.1313A>T	c.(1312-1314)AAG>ATG	p.K438M	MAP4K3_uc002rrp.2_Missense_Mutation_p.K417M|MAP4K3_uc010yns.1_Translation_Start_Site	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	438					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)				TCTGTCTACCTTTGGTGGCAA	0.303		NA											11	56					0	0	0	0
SRBD1	55133	broad.mit.edu	37	2	45789838	45789838	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:45789838A>T	uc002rus.2	-	10	1439	c.1363T>A	c.(1363-1365)TCT>ACT	p.S455T	SRBD1_uc010yoc.1_5'UTR	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	455					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACTCCATCAGAAATATTGACC	0.338		NA											31	130					0	0	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061677	103061677	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:103061677A>G	uc002tbx.2	+	9	1433	c.949A>G	c.(949-951)ATT>GTT	p.I317V	IL18RAP_uc010fiz.2_Missense_Mutation_p.I175V	NM_003853	NP_003844	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	317	Ig-like C2-type 2.|Extracellular (Potential).				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			skin(3)|ovary(2)	5						GGATGAAATCATTGAGCGTAA	0.398		NA											30	40					0	0	0	0
NCK2	8440	broad.mit.edu	37	2	106498068	106498068	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:106498068G>A	uc002tdg.2	+	4	953	c.511G>A	c.(511-513)GAG>AAG	p.E171K	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.E171K	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	171					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2						GGAGGTGGACGAGGCGGCTGC	0.657		NA											26	79					0	0	0	0
IWS1	55677	broad.mit.edu	37	2	128253582	128253582	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:128253582C>T	uc002ton.2	-	7	2011	c.1708G>A	c.(1708-1710)GCT>ACT	p.A570T	IWS1_uc010yzl.1_RNA	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	IWS1 homolog	570					transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACCTCAGCAGCTTCATTCATC	0.468		NA											122	173					0	0	0	0
SLC4A10	57282	broad.mit.edu	37	2	162820676	162820676	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:162820676C>T	uc002ubx.3	+	22	3078	c.2894C>T	c.(2893-2895)CCG>CTG	p.P965L	SLC4A10_uc002uby.3_Missense_Mutation_p.P935L|SLC4A10_uc010zcs.1_Missense_Mutation_p.P946L	NM_022058	NP_071341	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate	965	Extracellular (Potential).				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			ovary(2)|lung(2)|pancreas(1)	5						TTCTGGATGCCGGCAAAACAT	0.368		NA											8	26					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	169993958	169993958	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:169993958C>G	uc002ues.2	-	76	13777	c.13564G>C	c.(13564-13566)GAA>CAA	p.E4522Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4522	Endocytosis signal (Potential).|Cytoplasmic (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTGGGTTTTCAAATATTATG	0.348		NA											37	106					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170103911	170103911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:170103911G>T	uc002ues.2	-	20	3098	c.2885C>A	c.(2884-2886)TCG>TAG	p.S962*	LRP2_uc010zdf.1_Nonsense_Mutation_p.S825*	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	962	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GACATCATACGATTTCAAATG	0.398		NA											26	65					5.62e-17	6.19e-17	1	0
CHN1	1123	broad.mit.edu	37	2	175742727	175742727	+	Silent	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:175742727T>A	uc002uji.2	-	6	920	c.390A>T	c.(388-390)GCA>GCT	p.A130A	CHN1_uc010zeq.1_Silent_p.A130A|CHN1_uc002ujj.2_Intron	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	130	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TGTATTCTGCTGCCTTGGTTT	0.433		NA	T	TAF15	extraskeletal myxoid chondrosarcoma								30	229					0	0	0	0
CASP10	843	broad.mit.edu	37	2	202050586	202050586	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:202050586C>G	uc002uxl.1	+	2	504	c.86C>G	c.(85-87)TCA>TGA	p.S29*	CASP10_uc002uxi.1_Nonsense_Mutation_p.S29*|CASP10_uc010zhn.1_RNA|CASP10_uc002uxj.1_Nonsense_Mutation_p.S29*|CASP10_uc002uxk.1_Nonsense_Mutation_p.S29*|CASP10_uc010fta.1_Nonsense_Mutation_p.S29*|CASP10_uc002uxm.1_Nonsense_Mutation_p.S29*|CASP10_uc010ftb.1_RNA	NM_032974	NP_116756	Q92851	CASPA_HUMAN	caspase 10 isoform b preproprotein	29	DED 1.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			skin(3)|ovary(1)|pancreas(1)|breast(1)	6						ATTATTGATTCAAACCTGGGG	0.443		NA											27	113					0	0	0	0
CD28	940	broad.mit.edu	37	2	204594487	204594487	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:204594487A>T	uc002vah.3	+	3	748	c.526A>T	c.(526-528)ATT>TTT	p.I176F	CD28_uc002vag.1_RNA|CD28_uc010zio.1_RNA|CD28_uc010ftx.2_Missense_Mutation_p.I57F|CD28_uc002vaj.3_Intron	NM_006139	NP_006130	P10747	CD28_HUMAN	CD28 antigen precursor	176	Helical; (Potential).				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity				0						GGCCTTTATTATTTTCTGGGT	0.433		NA											126	176					0	0	0	0
TPX2	22974	broad.mit.edu	37	20	30363779	30363779	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:30363779C>G	uc002wwp.1	+	8	1416	c.718C>G	c.(718-720)CTG>GTG	p.L240V	TPX2_uc010gdv.1_Missense_Mutation_p.L240V	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	240					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GAAACTTGCTCTGGCTGGAAT	0.393		NA											11	121					0	0	0	0
C20orf117	140710	broad.mit.edu	37	20	35443638	35443638	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:35443638C>T	uc002xgd.1	-	5	1820	c.1493G>A	c.(1492-1494)GGG>GAG	p.G498E	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	498											0		Myeloproliferative disorder(115;0.00874)				GACAGAGCACCCGAGGACTGC	0.602		NA											89	155					0	0	0	0
TOX2	84969	broad.mit.edu	37	20	42694519	42694519	+	Silent	SNP	G	G	A	rs143301359	byFrequency	TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:42694519G>A	uc002xlf.3	+	6	1091	c.1074G>A	c.(1072-1074)ACG>ACA	p.T358T	TOX2_uc010ggo.2_Silent_p.T376T|TOX2_uc002xle.3_Silent_p.T334T|TOX2_uc010ggp.2_Silent_p.T334T|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Silent_p.T254T	NM_001098798	NP_001092268	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCGCCCGGACGCTGGGCTCCA	0.711		NA											25	78					0	0	0	0
RNF160	26046	broad.mit.edu	37	21	30315991	30315991	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr21:30315991G>C	uc002ymr.2	-	23	4369	c.4356C>G	c.(4354-4356)TAC>TAG	p.Y1452*		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1406							ligase activity|zinc ion binding				0						ATTCTTACTTGTATAGCATAT	0.289		NA											35	46					0	0	0	0
MX1	4599	broad.mit.edu	37	21	42821216	42821216	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr21:42821216G>A	uc002yzh.2	+	16	2373	c.1426G>A	c.(1426-1428)GTG>ATG	p.V476M	MX1_uc002yzi.2_Missense_Mutation_p.V476M|MX1_uc010goq.2_Missense_Mutation_p.V476M	NM_001144925	NP_001138397	P20591	MX1_HUMAN	myxovirus resistance protein 1	476					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCTACACACCGTGACGGGTGA	0.468		NA											47	52					0	0	0	0
SAMM50	25813	broad.mit.edu	37	22	44392241	44392241	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr22:44392241G>A	uc003bej.2	+	15	1585	c.1388G>A	c.(1387-1389)GGA>GAA	p.G463E	PARVB_uc003bem.2_5'Flank|SAMM50_uc011aqd.1_Missense_Mutation_p.G253E|SAMM50_uc003bek.2_Missense_Mutation_p.G268E	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	sorting and assembly machinery component 50	463					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			skin(1)	1		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GTCCAGTTTGGAGCTGGGATA	0.597		NA											127	413					0	0	0	0
SCN10A	6336	broad.mit.edu	37	3	38833599	38833599	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:38833599A>G	uc003ciq.2	-	2	331	c.331T>C	c.(331-333)TGG>CGG	p.W111R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	111					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGAATAGCCACAGGGCCCGA	0.458		NA											118	101					0	0	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037919	47037919	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:47037919C>T	uc003cqp.2	+	16	2489	c.2310C>T	c.(2308-2310)TCC>TCT	p.S770S	NBEAL2_uc010hjm.1_Silent_p.S331S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	770							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTGGGGGTCCGGGCTGGTGG	0.716		NA											6	11					0	0	0	0
TWF2	11344	broad.mit.edu	37	3	52269100	52269100	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:52269100G>C	uc003ddd.2	-	2	199	c.48C>G	c.(46-48)TTC>TTG	p.F16L	TWF2_uc010hmc.2_Missense_Mutation_p.F16L	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN	twinfilin-like protein	16	ADF-H 1.					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding			stomach(1)|ovary(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTTGGCAAAGAATTCCTTCA	0.572		NA											20	57					0	0	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054415	67054415	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:67054415G>C	uc003dmy.2	+	3	1077	c.1024G>C	c.(1024-1026)GGG>CGG	p.G342R	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	342	Kelch 1.									ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CATTGCAGGAGGGTACAGGCC	0.428		NA											65	65					0	0	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688638	111688638	+	Silent	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:111688638A>G	uc010hqa.2	+	16	3828	c.3417A>G	c.(3415-3417)GTA>GTG	p.V1139V	PHLDB2_uc003dyc.2_Silent_p.V1123V|PHLDB2_uc003dyd.2_Silent_p.V1096V|PHLDB2_uc003dyg.2_Silent_p.V1139V|PHLDB2_uc003dyh.2_Silent_p.V1096V|PHLDB2_uc003dyi.2_Silent_p.V630V|PHLDB2_uc003dyj.2_Silent_p.V194V	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	1139						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						GTTACCATGTATCAATCACAG	0.458		NA											61	138					0	0	0	0
P2RY1	5028	broad.mit.edu	37	3	152554155	152554155	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:152554155G>A	uc003ezq.2	+	1	1420	c.584G>A	c.(583-585)CGC>CAC	p.R195H		NM_002563	NP_002554	P47900	P2RY1_HUMAN	purinergic receptor P2Y1	195	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			lung(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACCGGGGTCCGCAAAAACAAA	0.522		NA											4	165					0	0	0	0
DHX36	170506	broad.mit.edu	37	3	154018467	154018467	+	Silent	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:154018467T>C	uc003ezy.3	-	11	1458	c.1377A>G	c.(1375-1377)GTA>GTG	p.V459V	DHX36_uc010hvq.2_Silent_p.V459V|DHX36_uc003ezz.3_Silent_p.V459V	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	459						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTATAACATCTACAGTACTTG	0.303		NA											42	94					0	0	0	0
PRKCI	5584	broad.mit.edu	37	3	170002329	170002329	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:170002329A>T	uc003fgs.2	+	12	1386	c.1148A>T	c.(1147-1149)AAT>ATT	p.N383I		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	383	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAACTGGACAATGTATTACTG	0.328		NA											43	122					0	0	0	0
KLHL24	54800	broad.mit.edu	37	3	183368215	183368215	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:183368215G>A	uc003flv.2	+	3	366	c.71G>A	c.(70-72)CGA>CAA	p.R24Q	KLHL24_uc003flw.2_Missense_Mutation_p.R24Q|KLHL24_uc003flx.2_Missense_Mutation_p.R24Q	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	DRE1 protein	24						axon|cytoplasm|perikaryon				ovary(1)	1	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCAACTAAGCGAAAAGTTTTT	0.398		NA											52	116					0	0	0	0
RELL1	768211	broad.mit.edu	37	4	37633100	37633100	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:37633100C>T	uc003gsz.2	-	6	816	c.726G>A	c.(724-726)CGG>CGA	p.R242R	RELL1_uc010ifc.2_Silent_p.R242R	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN	receptor expressed in lymphoid tissues like 1	242	Cytoplasmic (Potential).					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0						TCAGGCTTCTCCGTTCCTTCT	0.502		NA											32	42					0	0	0	0
C4orf14	84273	broad.mit.edu	37	4	57843128	57843128	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:57843128C>G	uc003hck.2	-	1	699	c.624G>C	c.(622-624)GCG>GCC	p.A208A	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	208							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					GCCGCCGCAACGCGGCGCTCA	0.731		NA											14	26					0	0	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361310	70361310	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:70361310G>C	uc003hek.3	-	1	317	c.270C>G	c.(268-270)ATC>ATG	p.I90M	UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.I90M	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	90					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2						CCAGCTGCTTGATAATATCCT	0.348		NA											15	53					0	0	0	0
C4orf35	85438	broad.mit.edu	37	4	71201658	71201658	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:71201658G>C	uc003hff.2	+	1	988	c.902G>C	c.(901-903)AGA>ACA	p.R301T		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	301						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				TGGATGGAGAGAGATACTGCA	0.423		NA											20	84					0	0	0	0
CXCL9	4283	broad.mit.edu	37	4	76927418	76927418	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:76927418A>G	uc003hjh.1	-	2	113	c.74T>C	c.(73-75)GTA>GCA	p.V25A		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	small inducible cytokine B9 precursor	25					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			ovary(1)	1			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTCTCACTACTGGGGTTCC	0.443		NA											106	159					0	0	0	0
ENOPH1	58478	broad.mit.edu	37	4	83375957	83375957	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:83375957G>C	uc003hmv.2	+	4	729	c.472G>C	c.(472-474)GAG>CAG	p.E158Q	ENOPH1_uc003hmw.2_Missense_Mutation_p.E70Q|ENOPH1_uc003hmx.2_Missense_Mutation_p.E12Q	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	158					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity				0						AGGGAGTGTGGAGGCACAGAA	0.448		NA											50	173					0	0	0	0
UNC5C	8633	broad.mit.edu	37	4	96091409	96091409	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:96091409G>A	uc003htp.1	-	15	2680	c.2526C>T	c.(2524-2526)TTC>TTT	p.F842F	uc003hto.2_5'Flank	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	842	Cytoplasmic (Potential).				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGGATGCTGAAAGCACTGG	0.592		NA											94	380					0	0	0	0
ALPK1	80216	broad.mit.edu	37	4	113352225	113352225	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:113352225G>C	uc003iap.3	+	11	1801	c.1522G>C	c.(1522-1524)GAA>CAA	p.E508Q	ALPK1_uc003ian.3_Missense_Mutation_p.E508Q|ALPK1_uc011cfx.1_Missense_Mutation_p.E430Q|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.E336Q	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	508							ATP binding|protein serine/threonine kinase activity			ovary(5)	5		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TACTACTCAAGAAAAGCCACA	0.398		NA											26	67					0	0	0	0
NDST3	9348	broad.mit.edu	37	4	119059225	119059225	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:119059225C>T	uc003ibx.2	+	5	1644	c.1241C>T	c.(1240-1242)ACG>ATG	p.T414M	NDST3_uc011cgf.1_Missense_Mutation_p.T333M	NM_004784	NP_004775	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan	414	Lumenal (Potential).|Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			large_intestine(1)	1						GGCATTCCAACGGACATGGGC	0.433		NA											6	147					0	0	0	0
PRSS48	345062	broad.mit.edu	37	4	152203446	152203446	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:152203446C>T	uc011cif.1	+	3	362	c.362C>T	c.(361-363)TCC>TTC	p.S121F	PRSS48_uc011cig.1_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	epidermis-specific serine protease-like protein	121	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)	1						TTGAAACTGTCCTCTCAAGTC	0.498		NA											46	215					0	0	0	0
FBXW7	55294	broad.mit.edu	37	4	153250883	153250883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:153250883G>A	uc003ims.2	-	8	1326	c.1177C>T	c.(1177-1179)CGA>TGA	p.R393*	FBXW7_uc011cii.1_Nonsense_Mutation_p.R393*|FBXW7_uc003imt.2_Nonsense_Mutation_p.R393*|FBXW7_uc011cih.1_Nonsense_Mutation_p.R217*|FBXW7_uc003imq.2_Nonsense_Mutation_p.R313*|FBXW7_uc003imr.2_Nonsense_Mutation_p.R275*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	393	WD 1.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R393*(5)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTAACTATTCGGTTACCACAA	0.343		NA	Mis|N|D|F		colorectal|endometrial|T-ALL								90	45					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13841896	13841896	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:13841896G>C	uc003jfd.2	-	33	5431	c.5389C>G	c.(5389-5391)CAG>GAG	p.Q1797E		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1797	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					AATGAGGACTGAGATTCTTCC	0.438		NA							Kartagener_syndrome				30	143					0	0	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95103849	95103849	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:95103849G>A	uc003klm.2	+	8	1798	c.1261G>A	c.(1261-1263)GAT>AAT	p.D421N		NM_014899	NP_055714	O94955	RHBT3_HUMAN	rho-related BTB domain containing 3	421	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			lung(1)|skin(1)	2		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GATGCTTGCCGATGTTGTCTT	0.343		NA											30	119					0	0	0	0
CXXC5	51523	broad.mit.edu	37	5	139060915	139060915	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:139060915C>T	uc010jfg.1	+	2	1097	c.807C>T	c.(805-807)TGC>TGT	p.C269C	CXXC5_uc003let.2_Silent_p.C269C	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	CXXC finger 5	269	CXXC-type.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCCTGCCGGCGGCGCA	0.572		NA											4	115					0	0	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517292	140517292	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:140517292G>T	uc003liq.2	+	1	2493	c.2276G>T	c.(2275-2277)GGG>GTG	p.G759V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	759	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGACTCAGGGGCCGGCGAG	0.582		NA											9	242					9.7e-10	1.05e-09	1	0
RELL2	285613	broad.mit.edu	37	5	141019628	141019628	+	Silent	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:141019628G>C	uc003lli.2	+	6	1493	c.645G>C	c.(643-645)GGG>GGC	p.G215G	RELL2_uc003llh.2_Silent_p.G215G|RELL2_uc003llg.2_Silent_p.G149G|RELL2_uc010jgf.2_Silent_p.G149G|FCHSD1_uc010jgg.2_3'UTR|FCHSD1_uc003llj.2_RNA|FCHSD1_uc003llk.2_3'UTR	NM_001130029	NP_001123501	Q8NC24	RELL2_HUMAN	RELT-like 2	215						integral to membrane|plasma membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGCAGGGATGCCTGCCA	0.677		NA											12	30					0	0	0	0
DTNBP1	84062	broad.mit.edu	37	6	15523422	15523422	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:15523422C>G	uc003nbm.2	-	10	1011	c.840G>C	c.(838-840)GAG>GAC	p.E280D	DTNBP1_uc003nbl.2_Missense_Mutation_p.E199D|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1 isoform a	280	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding				0	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GGAGGGTAATCTCATTCTGAC	0.498		NA							Hermansky-Pudlak_syndrome				54	167					0	0	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225622	26225622	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:26225622G>C	uc003nhb.2	+	2	600	c.240G>C	c.(238-240)AAG>AAC	p.K80N	HIST1H3E_uc003nhc.3_Missense_Mutation_p.K80N	NM_021018	NP_066298	P68431	H31_HUMAN	histone cluster 1, H3f	80					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding				0		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				AGGACTTCAAGACCGACCTGC	0.597		NA											29	84					0	0	0	0
KIF6	221458	broad.mit.edu	37	6	39563898	39563898	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:39563898T>G	uc003oot.2	-	7	873	c.778A>C	c.(778-780)ACT>CCT	p.T260P	KIF6_uc010jxa.1_Missense_Mutation_p.T51P|KIF6_uc011dua.1_Missense_Mutation_p.T260P|KIF6_uc010jxb.1_Missense_Mutation_p.T260P	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	260	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						CCTACTCCAGTCTTTGCAACT	0.443		NA											4	105					0	0	0	0
USP49	25862	broad.mit.edu	37	6	41773477	41773477	+	Silent	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:41773477G>C	uc003ori.2	-	4	1467	c.1245C>G	c.(1243-1245)CTC>CTG	p.L415L		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	ubiquitin thioesterase 49	415					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCAGACTCGAGTTCCTGCT	0.572		NA											24	92					0	0	0	0
CUL9	23113	broad.mit.edu	37	6	43152613	43152613	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:43152613A>G	uc003ouk.2	+	2	640	c.565A>G	c.(565-567)ATG>GTG	p.M189V	CUL9_uc003ouj.1_Missense_Mutation_p.M189V|CUL9_uc003oul.2_Missense_Mutation_p.M189V|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	189					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						TGCAGGCAAAATGCTGCAGGC	0.567		NA											16	28					0	0	0	0
ECHDC1	55862	broad.mit.edu	37	6	127648182	127648182	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:127648182C>T	uc003qax.2	-	3	382	c.346G>A	c.(346-348)GAT>AAT	p.D116N	ECHDC1_uc003qaz.3_Missense_Mutation_p.D110N|ECHDC1_uc010key.2_Missense_Mutation_p.D35N|ECHDC1_uc003qay.3_Missense_Mutation_p.D110N|ECHDC1_uc010kez.2_Missense_Mutation_p.D35N|ECHDC1_uc010kex.2_RNA	NM_001139510	NP_001132982	Q9NTX5	ECHD1_HUMAN	enoyl Coenzyme A hydratase domain containing 1	116							catalytic activity				0				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GCATTCAGATCAGATCCTGAA	0.378		NA											23	138					0	0	0	0
RAET1L	154064	broad.mit.edu	37	6	150342164	150342164	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:150342164C>G	uc011eei.1	-	3	569	c.508G>C	c.(508-510)GAA>CAA	p.E170Q		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L precursor	170	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex					0		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TCCCACTTTTCTTTCATCTTT	0.473		NA											64	202					0	0	0	0
WDR27	253769	broad.mit.edu	37	6	170060767	170060767	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:170060767T>C	uc003qwx.2	-	10	1641	c.1121A>G	c.(1120-1122)TAT>TGT	p.Y374C	WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Missense_Mutation_p.Y374C|WDR27_uc003qwy.2_Missense_Mutation_p.Y247C|WDR27_uc003qwz.1_Missense_Mutation_p.Y107C|WDR27_uc011egw.1_RNA			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	344										pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ACCCTTGTAATACAAAGCAGC	0.443		NA											16	49					0	0	0	0
HOXA2	3199	broad.mit.edu	37	7	27140524	27140524	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:27140524C>T	uc003syh.2	-	2	1227	c.952G>A	c.(952-954)GAG>AAG	p.E318K		NM_006735	NP_006726	O43364	HXA2_HUMAN	homeobox A2	318						nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						GAGGGGACCTCAAGGGCCTCA	0.522		NA											81	129					0	0	0	0
POM121L12	285877	broad.mit.edu	37	7	53104019	53104019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:53104019C>T	uc003tpz.2	+	1	671	c.655C>T	c.(655-657)CCC>TCC	p.P219S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	219											0						TGCCTTCAAGCCCCTGAGCAA	0.632		NA											12	171					0	0	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962919	88962919	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:88962919C>T	uc011khi.1	+	4	1161	c.623C>T	c.(622-624)TCA>TTA	p.S208L		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	208						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAACATCTTCAGATCTCAGC	0.388		NA								HNSCC(36;0.09)			26	83					0	0	0	0
COG5	10466	broad.mit.edu	37	7	106877029	106877029	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:106877029C>G	uc003ved.2	-	17	2512	c.1987G>C	c.(1987-1989)GAA>CAA	p.E663Q	COG5_uc003vec.2_Missense_Mutation_p.E684Q|COG5_uc003vee.2_Missense_Mutation_p.E684Q	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	663					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						TCCAAGCATTCAAAGTGTTTA	0.413		NA											26	75					0	0	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408040	107408040	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:107408040C>T	uc003ver.2	-	20	2466	c.2255G>A	c.(2254-2256)CGT>CAT	p.R752H	SLC26A3_uc003ves.2_Missense_Mutation_p.R639H	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	752					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4						TACCCGATTACGTAATCCTCC	0.343		NA											18	29					0	0	0	0
C7orf58	79974	broad.mit.edu	37	7	120655860	120655860	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:120655860G>C	uc003vjq.3	+	3	838	c.391G>C	c.(391-393)GAA>CAA	p.E131Q	C7orf58_uc003vjr.1_Missense_Mutation_p.E131Q|C7orf58_uc003vjs.3_Missense_Mutation_p.E131Q	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	hypothetical protein LOC79974 isoform 1	131						endoplasmic reticulum				ovary(4)|large_intestine(2)|skin(2)|pancreas(1)	9	all_neural(327;0.117)					CATCGCTGAAGAAAGGCTCAA	0.463		NA											11	24					0	0	0	0
PIP	5304	broad.mit.edu	37	7	142832288	142832288	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:142832288C>T	uc003wcf.1	+	2	133	c.97C>T	c.(97-99)CGG>TGG	p.R33W		NM_002652	NP_002643	P12273	PIP_HUMAN	prolactin-induced protein precursor	33						extracellular region	actin binding			ovary(1)	1	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CACAATCAGTCGGAAGATCAT	0.463		NA											7	23					0	0	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767612	150767613	+	Silent	DNP	GC	GC	TT			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:150767612_150767613GC>TT	uc003wit.3	+	11	1774_1775	c.1518_1519GC>TT	c.(1516-1521)CTGCTG>CTTTTG	p.506_507LL>LL	SLC4A2_uc011kve.1_Silent_p.497_498LL>LL|SLC4A2_uc003wiu.3_Silent_p.492_493LL>LL|SLC4A2_uc003wiv.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	506_507	Cytoplasmic (Potential).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTGAAACTGCTGGAGAAGAT	0.629		NA											8	15					0	0	0	0
ESYT2	57488	broad.mit.edu	37	7	158529772	158529772	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:158529772G>C	uc003wob.1	-	19	2513	c.2447C>G	c.(2446-2448)TCA>TGA	p.S816*	ESYT2_uc003wny.1_RNA|ESYT2_uc003wnz.1_Nonsense_Mutation_p.S255*|ESYT2_uc003woa.1_Nonsense_Mutation_p.S393*	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	844	C2 3.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3						TGTTTTCTTTGACACGTGTGT	0.448		NA											31	137					0	0	0	0
XKR4	114786	broad.mit.edu	37	8	56015393	56015393	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:56015393C>T	uc003xsf.2	+	1	377	c.345C>T	c.(343-345)ATC>ATT	p.I115I		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related	115	Helical; (Potential).					integral to membrane				pancreas(2)	2			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCCTCTGGATCCTGGCCGCCG	0.602		NA											42	48					0	0	0	0
PENK	5179	broad.mit.edu	37	8	57354258	57354258	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:57354258G>T	uc003xsz.2	-	2	458	c.377C>A	c.(376-378)GCC>GAC	p.A126D	PENK_uc003xta.3_Missense_Mutation_p.A126D	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	126					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ACTTCCATTGGCCTCTTCTTC	0.502		NA											53	205					4.17e-34	4.65e-34	1	0
BHLHE22	27319	broad.mit.edu	37	8	65494156	65494156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:65494156C>T	uc003xvi.2	+	1	1343	c.809C>T	c.(808-810)CCC>CTC	p.P270L	LOC401463_uc003xvh.2_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix domain containing, class	270	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GCGGTGATCCCCTACGCGCAC	0.637		NA											5	14					0	0	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989019	66989019	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:66989019A>C	uc003xvs.1	+	4	535	c.244A>C	c.(244-246)AAG>CAG	p.K82Q	DNAJC5B_uc003xvt.1_RNA	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	82	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding				0		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CATATACGACAAGTACGGATC	0.463		NA											72	112					0	0	0	0
C8orf45	157777	broad.mit.edu	37	8	67796029	67796029	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:67796029C>T	uc003xwz.3	+	9	1044	c.873C>T	c.(871-873)CTC>CTT	p.L291L	C8orf45_uc003xwv.2_Silent_p.L291L|C8orf45_uc011lev.1_Silent_p.L291L|C8orf45_uc011lew.1_Silent_p.L222L|C8orf45_uc011lex.1_Silent_p.L49L|C8orf45_uc003xwy.3_Silent_p.L291L	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	minichromosome maintenance complex	291					DNA replication		ATP binding|DNA binding			ovary(1)	1	Breast(64;0.186)		Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGTGTCTCCTCTCCTTAACTT	0.358		NA											47	49					0	0	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885612	88885612	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:88885612C>T	uc003ydz.2	-	1	685	c.588G>A	c.(586-588)GCG>GCA	p.A196A		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	196										ovary(1)	1						AAGAGTGATACGCGTGGATGC	0.557		NA											51	167					0	0	0	0
KIAA1429	25962	broad.mit.edu	37	8	95547138	95547138	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:95547138G>A	uc003ygo.1	-	5	426	c.413C>T	c.(412-414)TCT>TTT	p.S138F	KIAA1429_uc003ygp.2_Missense_Mutation_p.S138F	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	138					mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tggtggtggAGAGTCTCTGTC	0.353		NA											22	70					0	0	0	0
VPS13B	157680	broad.mit.edu	37	8	100115242	100115242	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:100115242C>G	uc003yiv.2	+	5	585	c.474C>G	c.(472-474)CTC>CTG	p.L158L	VPS13B_uc003yiw.2_Silent_p.L158L|VPS13B_uc003yit.2_Silent_p.L158L|VPS13B_uc003yiu.1_Silent_p.L158L|VPS13B_uc003yis.2_Silent_p.L158L|VPS13B_uc011lgy.1_Silent_p.L34L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	158					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAAATAATCTCATACTAAAAT	0.308		NA											30	135					0	0	0	0
RGS22	26166	broad.mit.edu	37	8	101020653	101020653	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:101020653G>A	uc003yjb.1	-	15	2506	c.2311C>T	c.(2311-2313)CTT>TTT	p.L771F	RGS22_uc003yja.1_Missense_Mutation_p.L590F|RGS22_uc003yjc.1_Missense_Mutation_p.L759F|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	771	Poly-Leu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATGGCTCAAGAAGGAGGAGA	0.378		NA											35	168					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144990620	144990620	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144990620C>T	uc003zaf.1	-	32	13950	c.13780G>A	c.(13780-13782)GAG>AAG	p.E4594K	PLEC_uc003zab.1_Missense_Mutation_p.E4457K|PLEC_uc003zac.1_Missense_Mutation_p.E4461K|PLEC_uc003zad.2_Missense_Mutation_p.E4457K|PLEC_uc003zae.1_Missense_Mutation_p.E4425K|PLEC_uc003zag.1_Missense_Mutation_p.E4435K|PLEC_uc003zah.2_Missense_Mutation_p.E4443K|PLEC_uc003zaj.2_Missense_Mutation_p.E4484K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4594	Globular 2.|Plectin 33.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCCGTGCCCTCCTCCACCATG	0.657		NA											49	193					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144993305	144993305	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993305C>T	uc003zaf.1	-	32	11265	c.11095G>A	c.(11095-11097)GAG>AAG	p.E3699K	PLEC_uc003zab.1_Missense_Mutation_p.E3562K|PLEC_uc003zac.1_Missense_Mutation_p.E3566K|PLEC_uc003zad.2_Missense_Mutation_p.E3562K|PLEC_uc003zae.1_Missense_Mutation_p.E3530K|PLEC_uc003zag.1_Missense_Mutation_p.E3540K|PLEC_uc003zah.2_Missense_Mutation_p.E3548K|PLEC_uc003zaj.2_Missense_Mutation_p.E3589K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3699	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTTCTTGTCTCCTCCTCAGTG	0.637		NA											50	235					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144993498	144993498	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993498C>T	uc003zaf.1	-	32	11072	c.10902G>A	c.(10900-10902)GAG>GAA	p.E3634E	PLEC_uc003zab.1_Silent_p.E3497E|PLEC_uc003zac.1_Silent_p.E3501E|PLEC_uc003zad.2_Silent_p.E3497E|PLEC_uc003zae.1_Silent_p.E3465E|PLEC_uc003zag.1_Silent_p.E3475E|PLEC_uc003zah.2_Silent_p.E3483E|PLEC_uc003zaj.2_Silent_p.E3524E	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3634	Globular 2.|Plectin 15.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGCGGTTCATCTCCTCACTGA	0.657		NA											37	144					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144993503	144993503	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993503C>T	uc003zaf.1	-	32	11067	c.10897G>A	c.(10897-10899)GAG>AAG	p.E3633K	PLEC_uc003zab.1_Missense_Mutation_p.E3496K|PLEC_uc003zac.1_Missense_Mutation_p.E3500K|PLEC_uc003zad.2_Missense_Mutation_p.E3496K|PLEC_uc003zae.1_Missense_Mutation_p.E3464K|PLEC_uc003zag.1_Missense_Mutation_p.E3474K|PLEC_uc003zah.2_Missense_Mutation_p.E3482K|PLEC_uc003zaj.2_Missense_Mutation_p.E3523K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3633	Globular 2.|Plectin 15.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TTCATCTCCTCACTGAAGTAG	0.662		NA											31	138					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144993992	144993992	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993992C>T	uc003zaf.1	-	32	10578	c.10408G>A	c.(10408-10410)GAC>AAC	p.D3470N	PLEC_uc003zab.1_Missense_Mutation_p.D3333N|PLEC_uc003zac.1_Missense_Mutation_p.D3337N|PLEC_uc003zad.2_Missense_Mutation_p.D3333N|PLEC_uc003zae.1_Missense_Mutation_p.D3301N|PLEC_uc003zag.1_Missense_Mutation_p.D3311N|PLEC_uc003zah.2_Missense_Mutation_p.D3319N|PLEC_uc003zaj.2_Missense_Mutation_p.D3360N	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3470	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GTCTTGCCGTCCTTGAGCTGC	0.667		NA											31	103					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144994286	144994286	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144994286C>G	uc003zaf.1	-	32	10284	c.10114G>C	c.(10114-10116)GAA>CAA	p.E3372Q	PLEC_uc003zab.1_Missense_Mutation_p.E3235Q|PLEC_uc003zac.1_Missense_Mutation_p.E3239Q|PLEC_uc003zad.2_Missense_Mutation_p.E3235Q|PLEC_uc003zae.1_Missense_Mutation_p.E3203Q|PLEC_uc003zag.1_Missense_Mutation_p.E3213Q|PLEC_uc003zah.2_Missense_Mutation_p.E3221Q|PLEC_uc003zaj.2_Missense_Mutation_p.E3262Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3372	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GGGGTCTTTTCAAAGGTCTCA	0.642		NA											24	102					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144994712	144994712	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144994712C>T	uc003zaf.1	-	32	9858	c.9688G>A	c.(9688-9690)GAG>AAG	p.E3230K	PLEC_uc003zab.1_Missense_Mutation_p.E3093K|PLEC_uc003zac.1_Missense_Mutation_p.E3097K|PLEC_uc003zad.2_Missense_Mutation_p.E3093K|PLEC_uc003zae.1_Missense_Mutation_p.E3061K|PLEC_uc003zag.1_Missense_Mutation_p.E3071K|PLEC_uc003zah.2_Missense_Mutation_p.E3079K|PLEC_uc003zaj.2_Missense_Mutation_p.E3120K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3230	Plectin 9.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGCAGCTTCTCATGAAACTCG	0.662		NA											15	57					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144995096	144995096	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144995096C>T	uc003zaf.1	-	32	9474	c.9304G>A	c.(9304-9306)GAG>AAG	p.E3102K	PLEC_uc003zab.1_Missense_Mutation_p.E2965K|PLEC_uc003zac.1_Missense_Mutation_p.E2969K|PLEC_uc003zad.2_Missense_Mutation_p.E2965K|PLEC_uc003zae.1_Missense_Mutation_p.E2933K|PLEC_uc003zag.1_Missense_Mutation_p.E2943K|PLEC_uc003zah.2_Missense_Mutation_p.E2951K|PLEC_uc003zaj.2_Missense_Mutation_p.E2992K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3102	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TGCTCCTGCTCCTCCACCACC	0.637		NA											18	49					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144995838	144995838	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144995838C>T	uc003zaf.1	-	32	8732	c.8562G>A	c.(8560-8562)CAG>CAA	p.Q2854Q	PLEC_uc003zab.1_Silent_p.Q2717Q|PLEC_uc003zac.1_Silent_p.Q2721Q|PLEC_uc003zad.2_Silent_p.Q2717Q|PLEC_uc003zae.1_Silent_p.Q2685Q|PLEC_uc003zag.1_Silent_p.Q2695Q|PLEC_uc003zah.2_Silent_p.Q2703Q|PLEC_uc003zaj.2_Silent_p.Q2744Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2854	Plectin 1.|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCAGCTGCCTCTGCAGGGCGG	0.672		NA											21	42					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144997355	144997355	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997355C>T	uc003zaf.1	-	31	7323	c.7153G>A	c.(7153-7155)GAG>AAG	p.E2385K	PLEC_uc003zab.1_Missense_Mutation_p.E2248K|PLEC_uc003zac.1_Missense_Mutation_p.E2252K|PLEC_uc003zad.2_Missense_Mutation_p.E2248K|PLEC_uc003zae.1_Missense_Mutation_p.E2216K|PLEC_uc003zag.1_Missense_Mutation_p.E2226K|PLEC_uc003zah.2_Missense_Mutation_p.E2234K|PLEC_uc003zaj.2_Missense_Mutation_p.E2275K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2385	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TTCTCAGCCTCGATGCGTGCC	0.647		NA											10	48					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144997461	144997461	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997461C>T	uc003zaf.1	-	31	7217	c.7047G>A	c.(7045-7047)CTG>CTA	p.L2349L	PLEC_uc003zab.1_Silent_p.L2212L|PLEC_uc003zac.1_Silent_p.L2216L|PLEC_uc003zad.2_Silent_p.L2212L|PLEC_uc003zae.1_Silent_p.L2180L|PLEC_uc003zag.1_Silent_p.L2190L|PLEC_uc003zah.2_Silent_p.L2198L|PLEC_uc003zaj.2_Silent_p.L2239L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2349	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTCCGCCTTCAGCCGCTGCA	0.667		NA											8	17					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144997511	144997511	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997511C>T	uc003zaf.1	-	31	7167	c.6997G>A	c.(6997-6999)GAG>AAG	p.E2333K	PLEC_uc003zab.1_Missense_Mutation_p.E2196K|PLEC_uc003zac.1_Missense_Mutation_p.E2200K|PLEC_uc003zad.2_Missense_Mutation_p.E2196K|PLEC_uc003zae.1_Missense_Mutation_p.E2164K|PLEC_uc003zag.1_Missense_Mutation_p.E2174K|PLEC_uc003zah.2_Missense_Mutation_p.E2182K|PLEC_uc003zaj.2_Missense_Mutation_p.E2223K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2333	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCGGTCTCCTCCAGCTGCAGC	0.652		NA											7	22					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144997545	144997545	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997545C>T	uc003zaf.1	-	31	7133	c.6963G>A	c.(6961-6963)GTG>GTA	p.V2321V	PLEC_uc003zab.1_Silent_p.V2184V|PLEC_uc003zac.1_Silent_p.V2188V|PLEC_uc003zad.2_Silent_p.V2184V|PLEC_uc003zae.1_Silent_p.V2152V|PLEC_uc003zag.1_Silent_p.V2162V|PLEC_uc003zah.2_Silent_p.V2170V|PLEC_uc003zaj.2_Silent_p.V2211V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2321	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCTCCTGCTCCACCTGCGCCT	0.657		NA											5	27					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144997569	144997569	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997569C>T	uc003zaf.1	-	31	7109	c.6939G>A	c.(6937-6939)CAG>CAA	p.Q2313Q	PLEC_uc003zab.1_Silent_p.Q2176Q|PLEC_uc003zac.1_Silent_p.Q2180Q|PLEC_uc003zad.2_Silent_p.Q2176Q|PLEC_uc003zae.1_Silent_p.Q2144Q|PLEC_uc003zag.1_Silent_p.Q2154Q|PLEC_uc003zah.2_Silent_p.Q2162Q|PLEC_uc003zaj.2_Silent_p.Q2203Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2313	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCGCAGCGTCTGCTCGGCGA	0.662		NA											5	35					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144997754	144997754	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997754C>T	uc003zaf.1	-	31	6924	c.6754G>A	c.(6754-6756)GAG>AAG	p.E2252K	PLEC_uc003zab.1_Missense_Mutation_p.E2115K|PLEC_uc003zac.1_Missense_Mutation_p.E2119K|PLEC_uc003zad.2_Missense_Mutation_p.E2115K|PLEC_uc003zae.1_Missense_Mutation_p.E2083K|PLEC_uc003zag.1_Missense_Mutation_p.E2093K|PLEC_uc003zah.2_Missense_Mutation_p.E2101K|PLEC_uc003zaj.2_Missense_Mutation_p.E2142K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2252	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TTCAGCCGCTCGGCCTCTTCC	0.761		NA											6	14					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144998138	144998138	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998138C>T	uc003zaf.1	-	31	6540	c.6370G>A	c.(6370-6372)GAG>AAG	p.E2124K	PLEC_uc003zab.1_Missense_Mutation_p.E1987K|PLEC_uc003zac.1_Missense_Mutation_p.E1991K|PLEC_uc003zad.2_Missense_Mutation_p.E1987K|PLEC_uc003zae.1_Missense_Mutation_p.E1955K|PLEC_uc003zag.1_Missense_Mutation_p.E1965K|PLEC_uc003zah.2_Missense_Mutation_p.E1973K|PLEC_uc003zaj.2_Missense_Mutation_p.E2014K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2124	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ACGCGCTCCTCAGCCTCACGG	0.726		NA											3	11					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144998210	144998210	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998210C>G	uc003zaf.1	-	31	6468	c.6298G>C	c.(6298-6300)GAG>CAG	p.E2100Q	PLEC_uc003zab.1_Missense_Mutation_p.E1963Q|PLEC_uc003zac.1_Missense_Mutation_p.E1967Q|PLEC_uc003zad.2_Missense_Mutation_p.E1963Q|PLEC_uc003zae.1_Missense_Mutation_p.E1931Q|PLEC_uc003zag.1_Missense_Mutation_p.E1941Q|PLEC_uc003zah.2_Missense_Mutation_p.E1949Q|PLEC_uc003zaj.2_Missense_Mutation_p.E1990Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2100	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						TCGGCCTGCTCCTTGCTGCGC	0.726		NA											5	17					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144998264	144998264	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998264C>G	uc003zaf.1	-	31	6414	c.6244G>C	c.(6244-6246)GAG>CAG	p.E2082Q	PLEC_uc003zab.1_Missense_Mutation_p.E1945Q|PLEC_uc003zac.1_Missense_Mutation_p.E1949Q|PLEC_uc003zad.2_Missense_Mutation_p.E1945Q|PLEC_uc003zae.1_Missense_Mutation_p.E1913Q|PLEC_uc003zag.1_Missense_Mutation_p.E1923Q|PLEC_uc003zah.2_Missense_Mutation_p.E1931Q|PLEC_uc003zaj.2_Missense_Mutation_p.E1972Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2082	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						AGCTCCAGCTCCAGCTCCGCC	0.711		NA											3	27					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144998319	144998319	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998319C>G	uc003zaf.1	-	31	6359	c.6189G>C	c.(6187-6189)GAG>GAC	p.E2063D	PLEC_uc003zab.1_Missense_Mutation_p.E1926D|PLEC_uc003zac.1_Missense_Mutation_p.E1930D|PLEC_uc003zad.2_Missense_Mutation_p.E1926D|PLEC_uc003zae.1_Missense_Mutation_p.E1894D|PLEC_uc003zag.1_Missense_Mutation_p.E1904D|PLEC_uc003zah.2_Missense_Mutation_p.E1912D|PLEC_uc003zaj.2_Missense_Mutation_p.E1953D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2063	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCGCCAGGATCTCCTCCTCCA	0.701		NA											4	34					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144998346	144998346	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998346C>G	uc003zaf.1	-	31	6332	c.6162G>C	c.(6160-6162)CTG>CTC	p.L2054L	PLEC_uc003zab.1_Silent_p.L1917L|PLEC_uc003zac.1_Silent_p.L1921L|PLEC_uc003zad.2_Silent_p.L1917L|PLEC_uc003zae.1_Silent_p.L1885L|PLEC_uc003zag.1_Silent_p.L1895L|PLEC_uc003zah.2_Silent_p.L1903L|PLEC_uc003zaj.2_Silent_p.L1944L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2054	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCGCTGCCTCAGCGTGTCCT	0.692		NA											5	23					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144998529	144998529	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998529G>A	uc003zaf.1	-	31	6149	c.5979C>T	c.(5977-5979)CTC>CTT	p.L1993L	PLEC_uc003zab.1_Silent_p.L1856L|PLEC_uc003zac.1_Silent_p.L1860L|PLEC_uc003zad.2_Silent_p.L1856L|PLEC_uc003zae.1_Silent_p.L1824L|PLEC_uc003zag.1_Silent_p.L1834L|PLEC_uc003zah.2_Silent_p.L1842L|PLEC_uc003zaj.2_Silent_p.L1883L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1993	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCTTCTCCTTGAGCGCGATCT	0.741		NA											10	19					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144999083	144999083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144999083C>T	uc003zaf.1	-	31	5595	c.5425G>A	c.(5425-5427)GAG>AAG	p.E1809K	PLEC_uc003zab.1_Missense_Mutation_p.E1672K|PLEC_uc003zac.1_Missense_Mutation_p.E1676K|PLEC_uc003zad.2_Missense_Mutation_p.E1672K|PLEC_uc003zae.1_Missense_Mutation_p.E1640K|PLEC_uc003zag.1_Missense_Mutation_p.E1650K|PLEC_uc003zah.2_Missense_Mutation_p.E1658K|PLEC_uc003zaj.2_Missense_Mutation_p.E1699K	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1809	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CGCCGCGCCTCGCGCTCCGCC	0.726		NA											9	14					0	0	0	0
PLEC	5339	broad.mit.edu	37	8	144999089	144999089	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144999089C>G	uc003zaf.1	-	31	5589	c.5419G>C	c.(5419-5421)GAG>CAG	p.E1807Q	PLEC_uc003zab.1_Missense_Mutation_p.E1670Q|PLEC_uc003zac.1_Missense_Mutation_p.E1674Q|PLEC_uc003zad.2_Missense_Mutation_p.E1670Q|PLEC_uc003zae.1_Missense_Mutation_p.E1638Q|PLEC_uc003zag.1_Missense_Mutation_p.E1648Q|PLEC_uc003zah.2_Missense_Mutation_p.E1656Q|PLEC_uc003zaj.2_Missense_Mutation_p.E1697Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	1807	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						GCCTCGCGCTCCGCCTCCTCC	0.721		NA											7	13					0	0	0	0
CNTLN	54875	broad.mit.edu	37	9	17409412	17409412	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:17409412C>A	uc003zmz.2	+	16	2760	c.2734C>A	c.(2734-2736)CAA>AAA	p.Q912K	CNTLN_uc003zmy.2_Missense_Mutation_p.Q913K|CNTLN_uc010mio.2_Missense_Mutation_p.Q592K	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	centlein isoform 1	913						centriole|membrane	two-component sensor activity			pancreas(1)	1				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAAGACAGCCAAACACAAGG	0.343		NA											39	146					2.05e-20	2.27e-20	1	0
MLLT3	4300	broad.mit.edu	37	9	20346501	20346501	+	Silent	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:20346501C>A	uc003zoe.2	-	11	1906	c.1647G>T	c.(1645-1647)TCG>TCT	p.S549S	MLLT3_uc011lne.1_Silent_p.S517S|MLLT3_uc011lnf.1_Silent_p.S546S	NM_004529	NP_004520	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			lung(2)|ovary(1)	3				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTTTGTCCAGCGAGCAAAGAT	0.388		NA	T	MLL	ALL								3	84					0.004672	0.00482677	1	0
KIAA1797	54914	broad.mit.edu	37	9	20986380	20986380	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:20986380G>A	uc003zog.1	+	42	5185	c.4822G>A	c.(4822-4824)GTG>ATG	p.V1608M	KIAA1797_uc003zoh.1_Missense_Mutation_p.V1044M	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1608						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		GAGCGTTGCTGTGCAGCACCG	0.512		NA											35	38					0	0	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860086	96860086	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:96860086G>A	uc004auf.1	+	7	1416	c.1076G>A	c.(1075-1077)CGA>CAA	p.R359Q	PTPDC1_uc004aug.1_Missense_Mutation_p.R359Q|PTPDC1_uc004auh.1_Missense_Mutation_p.R411Q|PTPDC1_uc010mrj.1_Missense_Mutation_p.R413Q|PTPDC1_uc010mri.1_Missense_Mutation_p.R411Q	NM_177995	NP_818931	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	359							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1						TTTGACAATCGAGGCATGATT	0.502		NA											21	110					0	0	0	0
ODF2	4957	broad.mit.edu	37	9	131260723	131260723	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131260723G>C	uc011mbd.1	+	19	2355	c.2044G>C	c.(2044-2046)GAG>CAG	p.E682Q	ODF2_uc004bvb.2_Missense_Mutation_p.E658Q|ODF2_uc011mbe.1_Missense_Mutation_p.E677Q|ODF2_uc004bvc.2_Missense_Mutation_p.E658Q|ODF2_uc004bvd.3_Missense_Mutation_p.E682Q|ODF2_uc004bvh.2_Missense_Mutation_p.E88Q	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	682	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						CCAGAATATCGAGTTCCTACA	0.537		NA											5	17					0	0	0	0
ODF2	4957	broad.mit.edu	37	9	131260797	131260797	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131260797G>A	uc011mbd.1	+	19	2429	c.2118G>A	c.(2116-2118)CGG>CGA	p.R706R	ODF2_uc004bvb.2_Silent_p.R682R|ODF2_uc011mbe.1_Silent_p.R701R|ODF2_uc004bvc.2_Silent_p.R682R|ODF2_uc004bvd.3_Silent_p.R706R|ODF2_uc004bvh.2_Silent_p.R112R	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	706	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						AGAAAACACGGGAATGTGGGA	0.328		NA											4	16					0	0	0	0
ODF2	4957	broad.mit.edu	37	9	131261346	131261346	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131261346G>C	uc011mbd.1	+	20	2553	c.2242G>C	c.(2242-2244)GAG>CAG	p.E748Q	ODF2_uc004bvb.2_Missense_Mutation_p.E724Q|ODF2_uc011mbe.1_Missense_Mutation_p.E743Q|ODF2_uc004bvc.2_Missense_Mutation_p.E724Q|ODF2_uc004bvd.3_Missense_Mutation_p.E748Q|ODF2_uc004bvh.2_Missense_Mutation_p.E154Q	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2 isoform 1	748	Potential.				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			ovary(1)	1						CCTGGACCTTGAGACCCAGCT	0.577		NA											39	134					0	0	0	0
WWOX	51741	broad.mit.edu	37	16	78466606	78466607	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:78466606_78466607delAC	uc002ffk.2	+	8	1138_1139	c.1013_1014delAC	c.(1012-1014)TACfs	p.Y338fs	WWOX_uc010vnk.1_Frame_Shift_Del_p.Y225fs|WWOX_uc002ffl.2_Intron|WWOX_uc010che.2_Intron	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	WW domain-containing oxidoreductase isoform 1	338	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity				0		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TGGTGGGTGTACACACTGCTGT	0.554		NA											8	611	---	---	---	---	NA	NA	NA	NA
NSD1	64324	broad.mit.edu	37	5	176637167	176637168	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:176637167_176637168delTT	uc003mfr.3	+	5	1905_1906	c.1767_1768delTT	c.(1765-1770)TCTTTAfs	p.S589fs	NSD1_uc003mft.3_Frame_Shift_Del_p.S320fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.S486fs|NSD1_uc011dfx.1_Frame_Shift_Del_p.S237fs	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	589_590					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATGGTGACTCTTTATTGGGCTT	0.446		NA	T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			76	84	---	---	---	---	NA	NA	NA	NA
RFPL4B	442247	broad.mit.edu	37	6	112671535	112671536	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:112671535_112671536insT	uc003pvx.1	+	3	937_938	c.625_626insT	c.(625-627)ATTfs	p.I209fs		NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	209	B30.2/SPRY.						zinc ion binding				0		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCGTGTGGGAATTTTCCTGGAT	0.465		NA											30	117	---	---	---	---	NA	NA	NA	NA
PLEC	5339	broad.mit.edu	37	8	144996072	144996073	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144996072_144996073insT	uc003zaf.1	-	32	8497_8498	c.8327_8328insA	c.(8326-8328)GAGfs	p.E2776fs	PLEC_uc003zab.1_Frame_Shift_Ins_p.E2639fs|PLEC_uc003zac.1_Frame_Shift_Ins_p.E2643fs|PLEC_uc003zad.2_Frame_Shift_Ins_p.E2639fs|PLEC_uc003zae.1_Frame_Shift_Ins_p.E2607fs|PLEC_uc003zag.1_Frame_Shift_Ins_p.E2617fs|PLEC_uc003zah.2_Frame_Shift_Ins_p.E2625fs|PLEC_uc003zaj.2_Frame_Shift_Ins_p.E2666fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2776	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCGGCTCTGCCTCTGCCGCGGG	0.688		NA											9	35	---	---	---	---	NA	NA	NA	NA