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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LTN1	26046	broad.mit.edu	37	21	30307615	30307615	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:30307615G>A	uc002ymr.2	-	26	4842	c.4829C>T	c.(4828-4830)gCt>gTt	p.A1610V		NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	1564							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GACTGAACAAGCCAAGTGTGG	0.333000														72			6		0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82499423	82499423	+	Missense_Mutation	SNP	C	T	T	rs140143447		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:82499423C>T	uc003kib.3	+	4	663	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	XRCC4_uc003kia.1_Missense_Mutation_p.R179W|XRCC4_uc003kic.3_Missense_Mutation_p.R179W|XRCC4_uc003kid.3_Missense_Mutation_p.R179W|XRCC4_uc003kie.3_Missense_Mutation_p.R179W|XRCC4_uc003kig.3_5'Flank	NM_022406	NP_071801	Q13426	XRCC4_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4), transcript variant 2, mRNA.	179					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|cytosol|nucleoplasm	DNA binding|protein C-terminus binding	p.R179W(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TCTTTATAAGCGGTTTATTCT	0.318000								Non-homologous end-joining						44			13		0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129363022	129363022	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:129363022T>C	uc004evm.3	-	9	1279	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	ZNF280C_uc010nrf.2_Missense_Mutation_p.Y359C	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						ATATTGCCGGTAACAGTGCTG	0.438000														200			12		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37000622	37000622	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:37000622C>T	uc003jkl.4	+	11	3951	c.3452C>T	c.(3451-3453)cCg>cTg	p.P1151L	NIPBL_uc003jkk.4_Missense_Mutation_p.P1151L	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1151					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.P1151S(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AACCGAAGTCCGTCAGATTCT	0.448000														72			55		0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232458786	232458786	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:232458786C>T	uc002vrz.3	+	0	1212	c.1124C>T	c.(1123-1125)gCc>gTc	p.A375V		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.	375										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		ATCCGCTCAGCCATGCGCTAC	0.647000														10			16		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167088687	167088687	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:167088687G>A	uc001geb.1	+	3	655	c.639G>A	c.(637-639)gcG>gcA	p.A213A		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	213	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.A213A(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGGATGAGGCGCTGCTGACTT	0.532000														24			10		0	0	1	0	0
PID1	55022	broad.mit.edu	37	2	230127481	230127481	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:230127481G>A	uc002vps.4	-	1	457	c.41C>T	c.(40-42)tCg>tTg	p.S14L	PID1_uc002vpt.4_Intron|PID1_uc002vpu.4_Intron	NM_017933	NP_060403	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 1, mRNA.	0						cytoplasm		p.S14S(3)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		acatgtcctcgactcttctaa	0.468000														12			11		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4940317	4940317	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:4940317G>A	uc002cyd.1	-	17	2271	c.2181C>T	c.(2179-2181)agC>agT	p.S727S		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	727					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGCCTTGGCGCTCTGTAGGC	0.567000														46			13		0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91692802	91692802	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:91692802C>T	uc004aqf.2	-	2	869	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	188	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GCTTCACAGACGCGGCTGATG	0.473000														18			19		0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3334016	3334016	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:3334016C>T	uc002cuq.3	+	0	530	c.198C>T	c.(196-198)tgC>tgT	p.C66C	ZNF263_uc010uww.2_Intron	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	66	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						AAGAGCTTTGCCATGGGTGGC	0.632000														17			42		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2933300	2933300	+	Silent	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:2933300C>A	uc011mhj.2	+	3	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	210						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTTCACTTCCTGGTACTCTA	0.453000														162			4		1.23904e-05	1.25355e-05	1	1	0
TBL3	10607	broad.mit.edu	37	16	2026870	2026870	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2026870C>T	uc002cnu.1	+	13	1450	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Missense_Mutation_p.P336S|TBL3_uc010bsc.1_Missense_Mutation_p.P317S|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	450					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAAGCTGTGGCCTCTTCCCAA	0.602000														24			11		0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45375403	45375403	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45375403C>T	uc002ozw.1	+	2	1162	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	PVRL2_uc002ozv.3_Missense_Mutation_p.R258C	NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	258					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.R258C(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CCTCTCTGTACGCTGTGAGTG	0.557000														57			4		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59445725	59445725	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:59445725C>T	uc002iyv.4	+	23	2617	c.2508C>T	c.(2506-2508)tgC>tgT	p.C836C	BCAS3_uc002iyu.4_Silent_p.C821C|BCAS3_uc002iyw.4_Silent_p.C817C|BCAS3_uc002iyy.4_Silent_p.C592C|BCAS3_uc002iyz.4_Silent_p.C390C|BCAS3_uc002iza.4_Silent_p.C375C|BCAS3_uc002izb.4_Non-coding_Transcript|BCAS3_uc002izc.4_Non-coding_Transcript	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	836						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGGAGGTGTGCGGGAGCTGGC	0.642000														24			10		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902937	22902937	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:22902937G>A	uc001bfx.1	+	2	512	c.387G>A	c.(385-387)tcG>tcA	p.S129S	EPHA8_uc001bfw.3_Silent_p.S129S	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	129						integral to plasma membrane	ATP binding|ephrin receptor activity	p.S129S(3)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTGGAGTCGGACCGCGACC	0.592000														120			6		0	0	1	0	0
RAB1B	81876	broad.mit.edu	37	11	66039636	66039636	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:66039636G>A	uc001ohf.3	+	2	191	c.96G>A	c.(94-96)acG>acA	p.T32T	AK125412_uc001ohg.1_Non-coding_Transcript	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.	32					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGGATGACACGTACACAGAGA	0.532000														50			4		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107717415	107717415	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:107717415C>T	uc010ljo.1	-	16	2182	c.2098G>A	c.(2098-2100)Gct>Act	p.A700T	LAMB4_uc003vey.2_Missense_Mutation_p.A700T	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	700	Laminin IV type B.				cell adhesion	basement membrane		p.A700S(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGTGAATGAGCGTGGGACTCT	0.418000														28			23		0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55803427	55803427	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:55803427G>A	uc010gip.1	-	1	998	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	BMP7_uc002xyc.3_Missense_Mutation_p.R157W	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	157					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			AGATCAAACCGGAACTCTCGA	0.512000														69			33		0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316965	38316965	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:38316965C>T	uc003chz.3	+	4	965	c.911C>T	c.(910-912)cCg>cTg	p.P304L	SLC22A13_uc011aym.1_Non-coding_Transcript|SLC22A13_uc011ayn.1_Missense_Mutation_p.P304L	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 13 (SLC22A13), mRNA.	304						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		AAACTCTCCCCGGAGCTCATG	0.602000														60			18		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100454700	100454700	+	Missense_Mutation	SNP	G	A	A	rs150811167	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100454700G>A	uc003uwp.3	+	4	801	c.659G>A	c.(658-660)cGc>cAc	p.R220H	SLC12A9_uc003uwo.1_Missense_Mutation_p.R131H|SLC12A9_uc003uwq.3_Missense_Mutation_p.R131H|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'UTR|SLC12A9_uc003uwv.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	220						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGGACATCCGCTTGACTCCT	0.627000														39			31		0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6638918	6638918	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6638918C>T	uc001mel.1	-	3	380	c.319G>A	c.(319-321)Gga>Aga	p.G107R	TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Missense_Mutation_p.G107R	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	107					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		TTCTGGGCTCCGGCTGCCAAG	0.542000														78			6		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21082095	21082095	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:21082095C>T	uc002zsz.4	-	39	4827	c.4566G>A	c.(4564-4566)ccG>ccA	p.P1522P	PI4KA_uc002zsy.4_Silent_p.P332P	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1522					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TAACGGCTCCCGGGTCCAACC	0.542000														113			13		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120628543	120628543	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:120628543G>A	uc003yos.2	-	7	825	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ENPP2_uc010mdd.2_Nonsense_Mutation_p.R247*|ENPP2_uc003yot.2_Nonsense_Mutation_p.R247*	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	247	Substrate binding (By similarity).				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATTTCTCTCGCCCTCGCAGA	0.378000														32			19		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945611	48945611	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:48945611G>A	uc002pjc.4	+	11	2733	c.2645G>A	c.(2644-2646)cGc>cAc	p.R882H	GRIN2D_uc010elx.3_Missense_Mutation_p.R117H	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	882						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCCACCCACCGCATGGACTTC	0.657000														26			17		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48755319	48755319	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:48755319C>T	uc001zwx.2	-	41	5579	c.5184G>A	c.(5182-5184)gcG>gcA	p.A1728A	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1728	TB 7.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTTGTTCCACGCCCGGCCAA	0.423000														70			17		0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13248350	13248350	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13248350C>T	uc002mwm.3	+	4	1453	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	429	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						CGATCCCCGTCGGAAGCCCCT	0.652000														59			4		0	0	1	0	0
IMPA1	3612	broad.mit.edu	37	8	82571603	82571603	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:82571603G>A	uc003ych.2	-	8	944	c.817C>T	c.(817-819)Cga>Tga	p.R273*	IMPA1_uc011lfq.1_Nonsense_Mutation_p.R332*|IMPA1_uc011lfr.1_3'UTR	NM_005536	NP_005527	P29218	IMPA1_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 1 (IMPA1), transcript variant 1, mRNA.	273					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	TCGTCGTCTCGTTGCAAAGGT	0.378000														91			20		0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72404807	72404807	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:72404807G>A	uc001osu.3	-	27	3927	c.3738C>T	c.(3736-3738)caC>caT	p.H1246H	ARAP1_uc001osv.3_Silent_p.H1246H|ARAP1_uc001osr.3_Silent_p.H1006H|ARAP1_uc001oss.3_Silent_p.H1001H|ARAP1_uc009yth.3_Silent_p.H940H|ARAP1_uc010rre.2_Silent_p.H1001H	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1246	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGCCCAGCCCGTGCAGGATGG	0.652000														19			23		0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210808138	210808138	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:210808138G>A	uc010zjc.1	+	43	6832	c.6752G>A	c.(6751-6753)cGt>cAt	p.R2251H	UNC80_uc021vvx.1_Missense_Mutation_p.R2246H|UNC80_uc002vdk.2_Missense_Mutation_p.R1412H	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	2251						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CCCCAGCTGCGTCAAGCCATC	0.443000														28			36		0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6657689	6657689	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6657689C>T	uc010sfe.2	-	6	1339	c.1285G>A	c.(1285-1287)Gac>Aac	p.D429N	IFFO1_uc001qoy.3_Non-coding_Transcript|IFFO1_uc001qoz.2_Missense_Mutation_p.D58N|IFFO1_uc001qpa.2_Missense_Mutation_p.D58N|IFFO1_uc001qpb.1_Missense_Mutation_p.D95N|IFFO1_uc001qpc.2_Missense_Mutation_p.D421N|IFFO1_uc001qpf.2_Missense_Mutation_p.D421N|IFFO1_uc001qpe.2_Non-coding_Transcript|IFFO1_uc001qpg.3_Missense_Mutation_p.D58N	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	418						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						CTGTCACAGTCGTCCTCAAAA	0.642000														77			5		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598240	62598240	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62598240G>A	uc002yhl.1	-	3	436	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTTGGCACCGCTGGTAATGG	0.612000														43			6		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100334486	100334486	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100334486G>A	uc003uwj.3	+	4	473	c.308G>A	c.(307-309)cGc>cAc	p.R103H	ZAN_uc003uwk.3_Missense_Mutation_p.R103H|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	103	MAM 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGAGTGGCCCGCCTGCTCAGC	0.647000														45			6		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51738931	51738931	+	Splice_Site	SNP	G	A	A	rs111722079		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51738931G>A	uc002pwa.2	+	6	964	c.924_splice	c.e6+1	p.P308_splice	CD33_uc010eos.1_Splice_Site_p.P308_splice|CD33_uc010eot.1_Splice_Site_p.P181_splice|CD33_uc010eou.1_Splice_Site	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	308					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CAGCCTCCCCGGTGAGTGATG	0.597000														26			9		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254288	155254288	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155254288G>A	uc003inw.2	-	8	1575	c.1575C>T	c.(1573-1575)ggC>ggT	p.G525G	DCHS2_uc003inx.2_Silent_p.G1024G	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	525	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGCAAAGACGCCTGGCTGCG	0.682000														29			13		0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941569	6941569	+	Missense_Mutation	SNP	G	A	A	rs147982952		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:6941569G>A	uc002geh.3	+	2	750	c.442G>A	c.(442-444)Gtg>Atg	p.V148M		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	148						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ACTGACAGGCGTGGGCCTCTC	0.642000														12			28		0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91029431	91029431	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:91029431C>T	uc003yek.1	+	1	290	c.149C>T	c.(148-150)gCg>gTg	p.A50V	DECR1_uc011lgc.1_Missense_Mutation_p.A41V|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	50					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH	p.A50A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTTCAAAAAGCGATGCTACCA	0.373000														57			10		0	0	1	0	0
ZBTB48	3104	broad.mit.edu	37	1	6646763	6646763	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:6646763G>A	uc009vmc.2	+	4	1176	c.1053G>A	c.(1051-1053)acG>acA	p.T351T	ZBTB48_uc001anx.3_Silent_p.T351T|ZBTB48_uc009vmd.2_Silent_p.T351T|ZBTB48_uc001any.2_5'UTR	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	351				FT -> LP (in Ref. 1; AAA65124).		cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGGTCTTCACGTGCTCTGTGT	0.637000														7			25		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170445	77170445	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:77170445C>T	uc010xfg.2	+	1	623	c.170C>T	c.(169-171)cCg>cTg	p.P57L	NFATC1_uc002lnc.1_Missense_Mutation_p.P57L|NFATC1_uc010xff.1_Missense_Mutation_p.P57L|NFATC1_uc002lnd.3_Missense_Mutation_p.P57L|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.P57L|NFATC1_uc010xfi.1_Missense_Mutation_p.P44L|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.P44L|NFATC1_uc002lng.3_Missense_Mutation_p.P44L|NFATC1_uc010xfk.2_Missense_Mutation_p.P44L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	57					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCCGCCCTGCCGCTCCCCACG	0.632000														18			3		0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411913	39411913	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:39411913C>T	uc021txh.1	+	0	278	c.276C>T	c.(274-276)ggC>ggT	p.G92G		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	Homo sapiens keratin associated protein 9-9 (KRTAP9-9), mRNA.	92						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCTGTGGCCAAACCAGCT	0.627000														11			54		0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73520376	73520376	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:73520376C>T	uc010yrj.2	-	0	454	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	EGR4_uc010yrk.1_Missense_Mutation_p.E127K	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	24						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCTGGGTTCGGCGCAACAG	0.701000														30			19		0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52449897	52449897	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52449897G>A	uc001rzs.3	+	3	1279	c.960G>A	c.(958-960)caG>caA	p.Q320Q	NR4A1_uc010sno.2_Silent_p.Q333Q|NR4A1_uc001rzt.3_Silent_p.Q320Q|NR4A1_uc009zmc.3_5'Flank	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	320					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		ACCGCTGCCAGTTCTGCCGCT	0.637000														79			43		0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58017797	58017797	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:58017797G>A	uc002qox.3	+	3	474	c.334G>A	c.(334-336)Gtt>Att	p.V112I	ZNF773_uc002qoy.3_Missense_Mutation_p.V111I|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		CAGTTCAAACGTTCAGCAACA	0.488000														60			46		0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661482	44661482	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:44661482G>A	uc002oym.3	+	5	1620	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	ZNF234_uc002oyl.4_Missense_Mutation_p.R438H	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAAGCCTTCCGTCAGAGTTCA	0.413000														51			20		0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12618601	12618601	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:12618601T>C	uc001ral.2	+	3	848	c.482T>C	c.(481-483)aTg>aCg	p.M161T	LOH12CR1_uc009zhu.2_Missense_Mutation_p.M113T	NM_058169	NP_477517	Q969J3	L12R1_HUMAN	Homo sapiens loss of heterozygosity, 12, chromosomal region 1 (LOH12CR1), mRNA.	161										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CGCATACAGATGGGCATCGAC	0.607000														89			23		0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102201825	102201825	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102201825A>G	uc001pgx.3	+	5	3972	c.1177A>G	c.(1177-1179)Agc>Ggc	p.S393G		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	393					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CTTTAGTAGAAGCCTGGTAAA	0.383000			T	MALT1	MALT									75			4		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43164505	43164505	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43164505T>C	uc003ouk.3	+	10	2783	c.2708T>C	c.(2707-2709)aTa>aCa	p.I903T	CUL9_uc003oul.3_Missense_Mutation_p.I903T|CUL9_uc010jyk.3_Missense_Mutation_p.I55T	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	903					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CACTCAGGGATAGCACCAAGA	0.537000														49			12		0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	20005813	20005813	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:20005813C>T	uc001bcl.3	+	2	1742	c.1275C>T	c.(1273-1275)ccC>ccT	p.P425P		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	425					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	ACATCGACCCCGCGGAGCCCG	0.692000														15			47		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39177437	39177437	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:39177437C>T	uc004abi.3	-	5	1044	c.805G>A	c.(805-807)Gac>Aac	p.D269N	CNTNAP3_uc004abj.3_Missense_Mutation_p.D269N|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.D269N|CNTNAP3_uc011lqs.1_Missense_Mutation_p.D269N	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	269	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGTGCTGGTCGTCCAGCAGG	0.507000														214			142		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561229	44561229	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:44561229G>T	uc002lcr.1	-	0	760	c.407C>A	c.(406-408)cCt>cAt	p.P136H	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	136					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCCCCGGAGGTGTTCTGCG	0.632000														44			12		3.27435e-08	3.33759e-08	1	1	0
MICAL1	64780	broad.mit.edu	37	6	109769510	109769510	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:109769510G>A	uc011eaq.2	-	12	2099	c.1808C>T	c.(1807-1809)cCg>cTg	p.P603L	MICAL1_uc003ptj.3_Missense_Mutation_p.P584L|MICAL1_uc003ptk.3_Missense_Mutation_p.P584L|MICAL1_uc010kdr.3_Missense_Mutation_p.P498L	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	584	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGACACCACCGGTGTGATGCC	0.607000														14			12		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75302098	75302098	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:75302098G>A	uc001xqj.4	+	19	6549	c.6425G>A	c.(6424-6426)cGa>cAa	p.R2142Q	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1947					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCCCTCAATCGAACCAAATAT	0.413000														28			21		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553250	106553250	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:106553250G>A	uc003prd.2	+	4	1449	c.1215G>A	c.(1213-1215)tcG>tcA	p.S405S	PRDM1_uc003pre.3_Silent_p.S271S	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	405					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TCATCCCCTCGTACAACGCTC	0.582000			"""D, N, Mis, F, S"""		DLBCL									6			21		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438268	23438268	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:23438268G>A	uc002zwu.1	+	1	923	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	129						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		GGTGTCATGCGACGGCTCTGG	0.677000														22			9		0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126135007	126135007	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:126135007G>A	uc001qdh.3	-	10	1550	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	SRPR_uc010sbm.2_Missense_Mutation_p.R430C	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	458					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GCCCCAGCACGAAATGTATCA	0.517000														28			7		0	0	1	0	0
LPCAT3	10162	broad.mit.edu	37	12	7088722	7088722	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:7088722G>A	uc001qsi.3	-	6	811	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.2_Missense_Mutation_p.R127C|LPCAT3_uc010sfx.1_Non-coding_Transcript|LPCAT3_uc009zfq.1_Missense_Mutation_p.R91C	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 3 (LPCAT3), mRNA.	233					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AGACTCAGGCGCTTGAGAGCA	0.512000														48			15		0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37706116	37706116	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:37706116C>T	uc003xkk.3	-	1	342	c.212G>A	c.(211-213)cGa>cAa	p.R71Q		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	71					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding	p.Q70Q(1)		breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			ATTCTCACCTCGTTGCTGGCT	0.453000														93			22		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50760714	50760714	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50760714C>T	uc010enu.1	+	17	2250	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	MYH14_uc002prq.1_Missense_Mutation_p.R702C|MYH14_uc002prr.1_Missense_Mutation_p.R694C	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	694	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CAGTTTTGTCCGCTGCATTGT	0.612000														37			4		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7814222	7814222	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7814222G>A	uc002gjd.2	+	38	5991	c.5989G>A	c.(5989-5991)Gca>Aca	p.A1997T	CHD3_uc002gje.2_Missense_Mutation_p.A1938T|CHD3_uc002gjf.2_Missense_Mutation_p.A1904T|CHD3_uc002gjh.2_Missense_Mutation_p.A515T|CHD3_uc002gjj.2_Missense_Mutation_p.A101T	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1938					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTTCAGCGCCGCACCCGTAGG	0.627000														11			72		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122420029	122420029	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:122420029C>T	uc003efq.4	+	5	2687	c.2628C>T	c.(2626-2628)caC>caT	p.H876H	PARP14_uc021xdc.1_Silent_p.H740H|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Silent_p.H593H|PARP14_uc003efs.1_Silent_p.H593H	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	876	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCTACCACCACGTGATCCATG	0.582000														52			48		0	0	1	0	0
C1R	715	broad.mit.edu	37	12	7188165	7188165	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:7188165C>T	uc010sfy.2	-	8	1614	c.1555G>A	c.(1555-1557)Ggg>Agg	p.G519R		NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	597	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCATGACCCCGAAGCCACTG	0.552000														77			17		0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180135639	180135639	+	Silent	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:180135639C>A	uc001gnz.3	+	1	354	c.279C>A	c.(277-279)gcC>gcA	p.A93A	QSOX1_uc001gny.3_Silent_p.A93A	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	93	Thioredoxin.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAGGCCGGCCCTGTATCTCG	0.592000														14			5		0.00116845	0.00117837	1	1	0
ATP2A3	489	broad.mit.edu	37	17	3839671	3839671	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:3839671G>A	uc002fwy.2	-	15	2587	c.2414C>T	c.(2413-2415)aCg>aTg	p.T805M	ATP2A3_uc002fwz.2_Missense_Mutation_p.T805M|ATP2A3_uc002fxa.2_Missense_Mutation_p.T805M|ATP2A3_uc002fxb.2_Missense_Mutation_p.T805M|ATP2A3_uc002fxc.2_Missense_Mutation_p.T805M|ATP2A3_uc002fxd.2_Missense_Mutation_p.T805M|ATP2A3_uc002fwx.2_Missense_Mutation_p.T805M	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	805					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	p.T805M(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCCCAGAGCCGTGGCAGGTAG	0.622000														74			4		0	0	1	0	0
PSME2	5721	broad.mit.edu	37	14	24615753	24615753	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24615753G>A	uc001wmj.3	-	0	103	c.38C>T	c.(37-39)gCc>gTc	p.A13V	RNF31_uc001wml.1_5'Flank|RNF31_uc001wmm.1_5'Flank|RNF31_uc001wmn.1_5'Flank|RNF31_uc010alg.1_5'Flank	NM_002818	NP_002809	Q9UL46	PSME2_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 2 (PA28 beta) (PSME2), mRNA.	13					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|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		CTGTTTGCGGGCTTCCCCGCT	0.627000														20			12		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100185	168100185	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:168100185C>T	uc002udx.3	+	8	2372	c.2283C>T	c.(2281-2283)gaC>gaT	p.D761D	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.D586D|XIRP2_uc010fpq.3_Silent_p.D539D|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	586					actin cytoskeleton organization	cell junction	actin binding	p.D761N(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACAGAGAAGACGTTGAAAAGG	0.363000														22			45		0	0	1	0	0
GTF2E2	2961	broad.mit.edu	37	8	30436512	30436512	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:30436512G>A	uc003xig.3	-	7	1055	c.802C>T	c.(802-804)Cga>Tga	p.R268*		NM_002095	NP_002086	P29084	T2EB_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA.	268	Arg/Lys-rich (basic).				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TTAAAGCGTCGCTTTTTCTGT	0.453000														79			44		0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138884415	138884415	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:138884415C>T	uc004faz.3	-	6	747	c.648G>A	c.(646-648)caG>caA	p.Q216Q	ATP11C_uc004fba.3_Silent_p.Q216Q	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	216					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E215K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGGTTGAGGCTGTTCACATT	0.423000														4			47		0	0	1	0	0
FAM192A	80011	broad.mit.edu	37	16	57188284	57188284	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:57188284G>A	uc021tiy.1	-	6	942	c.683C>T	c.(682-684)tCa>tTa	p.S228L	FAM192A_uc021tix.1_Non-coding_Transcript	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	Homo sapiens family with sequence similarity 192, member A (FAM192A), mRNA.	228						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						TTCGCTGTCTGAGCTGGACTC	0.597000														8			37		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3107131	3107131	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:3107131G>A	uc021xkv.1	+	4	721	c.576G>A	c.(574-576)gaG>gaA	p.E192E		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	192					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GGTTTGCTGAGCTGGCTCACC	0.532000														80			40		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123946899	123946899	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123946899G>T	uc003ehg.3	+	1	257	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	KALRN_uc010hrv.1_Missense_Mutation_p.A44S|KALRN_uc003ehf.1_Missense_Mutation_p.A44S|KALRN_uc011bjy.1_Missense_Mutation_p.A44S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	44	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAAAAGGTGGCCTTCGTGTC	0.448000														114			70		8.2577e-42	8.60177e-42	1	1	0
SEPN1	57190	broad.mit.edu	37	1	26140634	26140634	+	Missense_Mutation	SNP	G	A	A	rs138259627	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:26140634G>A	uc021ojk.1	+	11	1622	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M	SEPN1_uc021ojl.1_Missense_Mutation_p.V489M	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	523						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTTCCCCGTGGAGATGAT	0.647000														48			4		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129233374	129233374	+	Missense_Mutation	SNP	G	A	A	rs149245630		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:129233374G>A	uc003eml.3	+	25	3489	c.3283G>A	c.(3283-3285)Gcc>Acc	p.A1095T	IFT122_uc003emm.3_Missense_Mutation_p.A1044T|IFT122_uc003emn.3_Missense_Mutation_p.A985T|IFT122_uc003emo.3_Missense_Mutation_p.A934T|IFT122_uc003emp.3_Missense_Mutation_p.A894T|IFT122_uc010htc.3_Missense_Mutation_p.A1037T|IFT122_uc011bky.2_Missense_Mutation_p.A835T|IFT122_uc011bla.2_Missense_Mutation_p.A818T|IFT122_uc003emr.3_Missense_Mutation_p.A797T|IFT122_uc010hte.3_Missense_Mutation_p.A370T|IFT122_uc003ems.3_Missense_Mutation_p.A426T	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1044					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GACCATCCGCGCCAAGCCCTT	0.612000														26			25		0	0	1	0	0
AZIN1	51582	broad.mit.edu	37	8	103848546	103848546	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:103848546C>T	uc003ykx.3	-	6	1264	c.522G>A	c.(520-522)ctG>ctA	p.L174L	AZIN1_uc003yky.3_Silent_p.L174L	NM_015878	NP_680479	O14977	AZIN1_HUMAN	Homo sapiens antizyme inhibitor 1 (AZIN1), transcript variant 1, mRNA.	174					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TACAGTTCTTCAGGGTAGTGC	0.393000														244			7		0	0	1	0	0
ERCC6L	54821	broad.mit.edu	37	X	71425000	71425000	+	Missense_Mutation	SNP	C	T	T	rs140225715	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:71425000C>T	uc004eaq.1	-	1	3714	c.3617G>A	c.(3616-3618)cGt>cAt	p.R1206H	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.R1083H	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	1206					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTCTTTTCCACGCTTTACAAG	0.458000														100			4		0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50272839	50272839	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:50272839G>A	uc010anj.1	-	18	1825	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	NEMF_uc001wxc.3_Missense_Mutation_p.P586L|NEMF_uc010tqi.2_Missense_Mutation_p.P565L|NEMF_uc001wxe.2_Missense_Mutation_p.P544L|NEMF_uc001wxd.1_5'UTR	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	586						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GGTCCGTGGGGGGATGGGTTC	0.473000														31			4		0	0	1	0	0
ZNF839	55778	broad.mit.edu	37	14	102807759	102807759	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:102807759C>T	uc010awk.1	+	7	2034	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	ZNF839_uc001ylo.2_Missense_Mutation_p.P560L|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Intron|ZNF839_uc001ylr.2_Missense_Mutation_p.P485L|ZNF839_uc001yls.2_Missense_Mutation_p.P177L|ZNF839_uc001ylt.2_Missense_Mutation_p.P150L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	560						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGGCGGGCCCGCAGCTTCAG	0.557000														70			59		0	0	1	0	0
NOG	9241	broad.mit.edu	37	17	54672235	54672235	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:54672235G>A	uc002iup.2	+	0	1176	c.651G>A	c.(649-651)tgG>tgA	p.W217*		NM_005450	NP_005441	Q13253	NOGG_HUMAN	Homo sapiens noggin (NOG), mRNA.	217			W -> G (in SYNS1).		BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of BMP signaling pathway|negative regulation of astrocyte differentiation|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					GCTGCGGCTGGATTCCCATCC	0.682000														13			56		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46493480	46493480	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:46493480C>T	uc001cov.3	+	16	2280	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M	MAST2_uc001cow.3_Missense_Mutation_p.T666M|MAST2_uc001coy.1_Missense_Mutation_p.T340M|MAST2_uc001coz.1_Missense_Mutation_p.T551M|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	666	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					AGTCTGACAACGAACTTGTAT	0.458000														47			19		0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36759593	36759593	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:36759593C>T	uc003cgi.2	-	3	2152	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	554	Protein kinase.		R -> C (in a lung squamous cell carcinoma sample; somatic mutation).			cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R554C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCAGGGCTGCGGAATGGGGG	0.552000														62			12		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102566787	102566787	+	Missense_Mutation	SNP	G	A	A	rs150674888		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:102566787G>A	uc003vaq.2	-	9	1239	c.812C>T	c.(811-813)cCg>cTg	p.P271L	FBXL13_uc010liq.1_Missense_Mutation_p.P86L|FBXL13_uc010lir.1_Missense_Mutation_p.P271L|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.P271L|LRRC17_uc003vat.3_Intron|LRRC17_uc003vau.3_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	271										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CAGGACCCCCGGGCAGCCCTC	0.438000														45			6		0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3599709	3599709	+	Missense_Mutation	SNP	G	A	A	rs146218192		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3599709G>A	uc001akp.3	+	2	261	c.151G>A	c.(151-153)Gtc>Atc	p.V51I	TP73_uc021ofb.1_Missense_Mutation_p.V51I|TP73_uc021ofc.1_Missense_Mutation_p.V51I|TP73_uc021ofd.1_Missense_Mutation_p.V51I|TP73_uc021ofe.1_Missense_Mutation_p.V51I|TP73_uc021off.1_Missense_Mutation_p.V51I	NM_005427	NP_001191121	O15350	P73_HUMAN	Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA.	51	Asp/Glu-rich (acidic).				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CAGCATGGACGTCTTCCACCT	0.597000														9			36		0	0	1	0	0
EPB49	2039	broad.mit.edu	37	8	21924625	21924625	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21924625C>T	uc022asw.1	+	1	86	c.48C>T	c.(46-48)agC>agT	p.S16S	EPB49_uc022asq.1_Silent_p.S16S|EPB49_uc011kys.1_Intron|EPB49_uc022asr.1_Silent_p.S16S|EPB49_uc022ass.1_Intron|EPB49_uc022ast.1_Silent_p.S16S|EPB49_uc022asu.1_Silent_p.S16S|EPB49_uc022asv.1_Silent_p.S16S|EPB49_uc022asx.1_Silent_p.S16S|EPB49_uc022asy.1_Intron	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	16					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GGAGCGTGAGCCCCTCCCGAG	0.721000														53			21		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48462160	48462160	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:48462160G>A	uc003csw.2	-	9	2212	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	PLXNB1_uc003csu.2_Missense_Mutation_p.R648C|PLXNB1_uc003csx.2_Missense_Mutation_p.R648C|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	648					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACCCCCAGCGGCTGCTCACA	0.637000														114			32		0	0	1	0	0
CYTH3	9265	broad.mit.edu	37	7	6217521	6217521	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:6217521C>T	uc003spt.3	-	4	405	c.301G>A	c.(301-303)Gtc>Atc	p.V101I		NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	101	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AACTGGGCGACGTCTTCTGGG	0.458000														76			15		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2033488	2033488	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:2033488G>A	uc003wpx.4	+	13	1748	c.1610G>A	c.(1609-1611)cGt>cAt	p.R537H	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	537	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle	p.P536L(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCCACTCCCCGTGGCAAGGAC	0.597000														25			20		0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67261522	67261522	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:67261522G>A	uc001olx.3	-	18	3068	c.2879C>T	c.(2878-2880)aCg>aTg	p.T960M	PITPNM1_uc001olw.3_Missense_Mutation_p.T242M|PITPNM1_uc001oly.3_Missense_Mutation_p.T960M|PITPNM1_uc001olz.3_Missense_Mutation_p.T959M	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	960					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CAGCGGCTGCGTCATGATGTA	0.652000														20			8		0	0	1	0	0
RELL2	285613	broad.mit.edu	37	5	141019122	141019122	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:141019122C>T	uc003lli.3	+	4	1257	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	HDAC3_uc003llf.2_5'Flank|HDAC3_uc010jgd.1_5'Flank|HDAC3_uc010jge.1_5'Flank|RELL2_uc003llh.3_Missense_Mutation_p.R137C|FCHSD1_uc010jgg.3_3'UTR|FCHSD1_uc003llj.3_Non-coding_Transcript|FCHSD1_uc003llk.3_3'UTR	NM_001130029	NP_776189	Q8NC24	RELL2_HUMAN	Homo sapiens RELT-like 2 (RELL2), transcript variant 2, mRNA.	137						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATTGCAGCCGCAGCAAGAG	0.647000														49			3		0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127064218	127064218	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:127064218G>A	uc004boh.3	+	2	338	c.77G>A	c.(76-78)cGt>cAt	p.R26H	NEK6_uc004bof.3_Missense_Mutation_p.R10H|NEK6_uc004bog.3_5'UTR|NEK6_uc010mwk.3_5'UTR|NEK6_uc022bnf.1_Missense_Mutation_p.R26H|NEK6_uc004boi.3_5'UTR|NEK6_uc022bng.1_Missense_Mutation_p.R17H	NM_001145001	NP_055212	Q9HC98	NEK6_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 6 (NEK6), transcript variant 1, mRNA.	0	Interaction with ARHGAP33, ANKRA2, CDC42, PRDX3, RAD26L, RBBP6, RPS7 and TRIP4.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GTTGCAGTTCGTGCCCTCGTG	0.582000														12			4		0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27901911	27901911	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:27901911G>A	uc002heg.2	-	20	2336	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W	GIT1_uc002hef.2_Missense_Mutation_p.R699W|GIT1_uc010wbg.1_Missense_Mutation_p.R685W	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	699	Interaction with PXN and TGFB1I1 (By similarity).				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AGTGAGCTCCGCACTGGCTCC	0.657000														3			8		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95168570	95168570	+	Silent	SNP	T	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:95168570T>G	uc001kin.3	-	6	826	c.703A>C	c.(703-705)Aga>Cga	p.R235R	MYOF_uc001kio.3_Silent_p.R235R|MYOF_uc001kip.4_Silent_p.R235R|MYOF_uc009xuf.2_Silent_p.R217R	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	235	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTGTTTCCTCTCTTGATTCTT	0.517000														21			34		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122001025	122001025	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:122001025C>T	uc004bkc.2	-	4	1049	c.593G>A	c.(592-594)cGc>cAc	p.R198H	DBC1_uc004bkd.2_Missense_Mutation_p.R198H	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	198	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGGCCCAGTGCGTGTCTCTGT	0.507000														59			29		0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55254295	55254295	+	Missense_Mutation	SNP	C	T	T	rs144622313	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:55254295C>T	uc002rye.3	-	2	1238	c.940G>A	c.(940-942)Gta>Ata	p.V314I	RTN4_uc002ryd.3_Missense_Mutation_p.V108I|RTN4_uc002ryf.3_Intron|RTN4_uc002ryg.3_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	314					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						GCTACTATTACGGCAGATTCT	0.333000														95			56		0	0	1	0	0
SNX27	81609	broad.mit.edu	37	1	151641045	151641045	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151641045T>C	uc001eyn.1	+	6	1099	c.1083T>C	c.(1081-1083)ctT>ctC	p.L361L	SNX27_uc001eyo.3_Silent_p.L268L|SNX27_uc001eyp.3_Silent_p.L175L	NM_030918	NP_112180	Q96L92	SNX27_HUMAN	Homo sapiens sorting nexin family member 27 (SNX27), mRNA.	361	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAAGTGGCTTTTTACAACAG	0.383000														95			4		0	0	1	0	0
RECQL5	9400	broad.mit.edu	37	17	73626346	73626346	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:73626346C>T	uc010dgl.3	-	13	1939	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	RECQL5_uc010dgk.3_Missense_Mutation_p.R550Q|RECQL5_uc002jot.4_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	577					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCCTTGGCCCGGAGGTCAGC	0.632000								Other identified genes with known or suspected DNA repair function						27			19		0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92252390	92252390	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:92252390G>A	uc011khw.2	-	5	1070	c.658C>T	c.(658-660)Cgt>Tgt	p.R220C	CDK6_uc010lez.3_Missense_Mutation_p.R220C	NM_001259	NP_001250	Q00534	CDK6_HUMAN	Homo sapiens cyclin-dependent kinase 6 (CDK6), transcript variant 1, mRNA.	220	Protein kinase.				G1 phase of mitotic cell cycle|cell dedifferentiation|cell division|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GAACTTCCACGAAAAAGAGGC	0.294000			T	MLLT10	ALL									83			88		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1746487	1746487	+	Silent	SNP	G	A	A	rs148572882		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:1746487G>A	uc003gdo.3	+	14	2534	c.2379G>A	c.(2377-2379)gcG>gcA	p.A793A	TACC3_uc003gdp.3_Silent_p.A433A	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	793						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AGGCGGAAGCGTTGGCCCTCC	0.672000														28			4		0	0	1	0	0
TEX10	54881	broad.mit.edu	37	9	103064527	103064527	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:103064527G>A	uc004bas.3	-	14	2951	c.2736C>T	c.(2734-2736)aaC>aaT	p.N912N	TEX10_uc011lvf.2_Silent_p.N751N|TEX10_uc011lvg.2_Silent_p.N896N	NM_017746	NP_060216	Q9NXF1	TEX10_HUMAN	Homo sapiens testis expressed 10 (TEX10), transcript variant 1, mRNA.	912						MLL1 complex|integral to membrane|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGATATACACGTTGAAGCAGT	0.448000														30			25		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775707	77775707	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:77775707G>A	uc003yau.2	+	10	10144	c.9757G>A	c.(9757-9759)Gac>Aac	p.D3253N		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATTGCTGGTGACCCAGCTTC	0.458000										HNSCC(33;0.089)				129			39		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186289518	186289518	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:186289518C>T	uc001grv.3	-	45	6791	c.6494G>A	c.(6493-6495)cGg>cAg	p.R2165Q	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2165					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGGCCCAAACCGGAATCTAGG	0.403000			T	NTRK1	papillary thyroid									30			7		0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111938616	111938616	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:111938616G>A	uc001pmp.4	-	5	1150	c.927C>T	c.(925-927)atC>atT	p.I309I	PIH1D2_uc009yyl.3_Intron	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.	309										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GCATTGTGATGATTAGCGTGG	0.343000														75			18		0	0	1	0	0
GLYATL3	389396	broad.mit.edu	37	6	49494458	49494458	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:49494458C>T	uc003ozi.3	+	5	811	c.698C>T	c.(697-699)aCg>aTg	p.T233M		NM_001010904	NP_001010904	Q5SZD4	GLYL3_HUMAN	Homo sapiens glycine-N-acyltransferase-like 3 (GLYATL3), mRNA.	233						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(3)|lung(1)|skin(3)|stomach(2)	11						GTGGCCCTCACGCTGGCCAGG	0.592000														7			21		0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36479606	36479606	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:36479606G>A	uc001bzp.3	+	10	1708	c.1363G>A	c.(1363-1365)Gct>Act	p.A455T	EIF2C3_uc001bzq.3_Missense_Mutation_p.A221T	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	455					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGGGCTATCGCTTGTTTTGC	0.433000														195			45		0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79366537	79366537	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:79366537C>T	uc021yaw.1	+	11	1715	c.1524C>T	c.(1522-1524)gaC>gaT	p.D508D	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	508					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACGCTTGTGACGAGGATGCTG	0.532000														96			4		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26513189	26513189	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:26513189C>T	uc003xfb.2	+	13	2117	c.1686C>T	c.(1684-1686)ccC>ccT	p.P562P	DPYSL2_uc003xfa.3_Silent_p.P667P|DPYSL2_uc011lah.2_Silent_p.P526P	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	562					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TGGCGCCCCCCGGTGGCCGTG	0.637000											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			4		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607545	42607545	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42607545C>T	uc003bcj.1	-	0	3901	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	TCF20_uc003bck.1_Missense_Mutation_p.R1256H	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AGAACGAACACGCCTCCTCAT	0.453000														129			24		0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868961	22868961	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:22868961C>T	uc002zwe.3	-	1	1247	c.994G>A	c.(994-996)Gac>Aac	p.D332N	abParts_uc021wml.1_Non-coding_Transcript|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.D332N	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GTGGTGTGGTCTTCCCAGCTG	0.478000														75			68		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116353631	116353631	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:116353631G>A	uc004bhq.3	+	21	3243	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I	RGS3_uc004bhs.3_Missense_Mutation_p.V902I|RGS3_uc004bht.3_Missense_Mutation_p.V731I|RGS3_uc010muy.3_Missense_Mutation_p.V405I|RGS3_uc004bhv.3_Missense_Mutation_p.V333I|RGS3_uc010muz.1_Missense_Mutation_p.V351I|RGS3_uc004bhw.3_Intron|RGS3_uc011lxh.2_Missense_Mutation_p.V333I|RGS3_uc004bhx.3_Missense_Mutation_p.V333I|RGS3_uc004bhy.1_Missense_Mutation_p.V322I|RGS3_uc004bhz.3_Missense_Mutation_p.V354I|RGS3_uc004bia.3_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	1012					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCTGACACCGTTGGGGATGA	0.572000														36			11		0	0	1	0	0
CENPM	79019	broad.mit.edu	37	22	42341239	42341239	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42341239G>A	uc003bbn.3	-	3	368	c.300C>T	c.(298-300)ctC>ctT	p.L100L	bK250D10.C22.8_uc003bba.1_Intron|CENPM_uc003bbo.3_Silent_p.L100L|CENPM_uc003bbp.1_Silent_p.L100L	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN	Homo sapiens centromere protein M (CENPM), transcript variant 1, mRNA.	100					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						CACCTGTGGCGAGGAAACACA	0.602000														68			14		0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5832569	5832569	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:5832569G>T	uc002mdf.1	-	3	536	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	FUT6_uc021unl.1_Missense_Mutation_p.L4M|FUT6_uc002mdg.1_Missense_Mutation_p.L4M|FUT6_uc002mdh.1_Missense_Mutation_p.L4M|FUT6_uc021unm.1_Missense_Mutation_p.L4M	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	4					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						GCCGGGCCCAGGGGATCCATG	0.572000														70			3		0.00909568	0.00913414	1	1	0
TBC1D7	51256	broad.mit.edu	37	6	13321234	13321234	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:13321234C>T	uc003naj.3	-	3	395	c.287G>A	c.(286-288)cGc>cAc	p.R96H	TBC1D7_uc011dis.2_Non-coding_Transcript|TBC1D7_uc003nal.3_Missense_Mutation_p.R96H|TBC1D7_uc003nan.3_Missense_Mutation_p.R96H|TBC1D7_uc003nam.3_Missense_Mutation_p.R96H|TBC1D7_uc003nao.3_Missense_Mutation_p.R69H|TBC1D7_uc010jpd.3_Missense_Mutation_p.R96H|TBC1D7_uc003naq.3_Missense_Mutation_p.R69H	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	96	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			ACTAACAAAGCGAACGACTTT	0.498000														21			19		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8201286	8201286	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8201286C>T	uc002mjf.3	-	9	1348	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	444	EGF-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCACTCGCCGCGCACGTCCTG	0.647000														43			6		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466490	131466490	+	Silent	SNP	G	A	A	rs145796361	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:131466490G>A	uc010tbm.2	+	5	1027	c.468G>A	c.(466-468)gcG>gcA	p.A156A	GPR133_uc001uit.4_Silent_p.A124A	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	124					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A124A(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCTTCTGCGTATGGGGGAC	0.507000														44			22		0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49251932	49251932	+	Silent	SNP	C	T	T	rs145827381	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:49251932C>T	uc001rsn.3	-	4	649	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	182					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GCATGGATGCCGTCCGAAAGA	0.557000														98			43		0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76030355	76030355	+	Missense_Mutation	SNP	C	T	T	rs77067369	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:76030355C>T	uc003ufb.3	-	2	487	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	ZP3_uc003ufc.4_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	47						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GGCTGTAGGGCGCTGGCTGAA	0.627000														47			5		0	0	1	0	0
DDX12P	440081	broad.mit.edu	37	12	9578189	9578189	+	RNA	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:9578189G>A	uc021qut.1	-	7		c.551C>T			DDX12P_uc001qvx.4_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		GTCTGCAGGGGCTGCAAGAGC	0.622000														98			4		0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42987962	42987962	+	Splice_Site	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42987962G>A	uc011apq.2	-	7	1171	c.1072_splice	c.e7+1	p.G358_splice	POLDIP3_uc011app.2_Splice_Site_p.G262_splice|POLDIP3_uc011apr.2_Splice_Site|POLDIP3_uc003bcu.3_Splice_Site_p.G341_splice|POLDIP3_uc003bcv.3_Splice_Site_p.G312_splice|POLDIP3_uc010gza.3_Splice_Site	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	341					positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						CTAACTTACCGTCCAGACACC	0.542000														125			4		0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548036	50548036	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50548036C>T	uc002prn.3	+	4	573	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ZNF473_uc002prm.3_Silent_p.F112F|ZNF473_uc010ybo.2_Silent_p.F100F	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	112					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTCCAATTTCGGAGAAGCCT	0.473000														71			28		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720400	50720400	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50720400G>A	uc003bkv.4	-	19	3321	c.3228C>T	c.(3226-3228)gaC>gaT	p.D1076D	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.D61D	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1076	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CACGGTGCCCGTCCATCTCGA	0.597000														20			12		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56478809	56478809	+	Missense_Mutation	SNP	G	A	A	rs77228285		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56478809G>A	uc001sjh.3	+	2	541	c.265G>A	c.(265-267)Gtg>Atg	p.V89M	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Missense_Mutation_p.V30M|ERBB3_uc001sjg.3_Missense_Mutation_p.V89M	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	89					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CTATGTCCTCGTGGCCATGAA	0.483000														44			17		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35396917	35396917	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35396917C>T	uc003zwr.3	+	26	3560	c.3268C>T	c.(3268-3270)Cga>Tga	p.R1090*	UNC13B_uc003zwq.3_Nonsense_Mutation_p.R1090*	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1090	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCTGGAACGAGATAAGAA	0.552000														143			22		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41814441	41814441	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41814441G>A	uc001zod.3	-	19	2874	c.2750C>T	c.(2749-2751)gCc>gTc	p.A917V		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	917	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGCCAATATGGCAGCCAGCTG	0.562000														138			113		0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	169931585	169931585	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:169931585C>T	uc003mas.3	+	0	538	c.9C>T	c.(7-9)gcC>gcT	p.A3A	KCNIP1_uc003map.3_Intron|KCNIP1_uc003mat.3_Silent_p.A3A|KCNIP1_uc010jjp.3_5'UTR|KCNIP1_uc010jjq.3_Silent_p.A3A	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Homo sapiens Kv channel interacting protein 1 (KCNIP1), transcript variant 1, mRNA.	3					detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATGGGGGCCGTCATGGGCA	0.582000														7			11		0	0	1	0	0
SNX25	83891	broad.mit.edu	37	4	186185677	186185677	+	Missense_Mutation	SNP	C	T	T	rs140041413	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:186185677C>T	uc003ixh.3	+	3	514	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	109	PXA.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AACGTGTTCTCGGGTTCTGGT	0.413000														62			25		0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150747623	150747623	+	Silent	SNP	G	A	A	rs149333074		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150747623G>A	uc003wio.2	+	2	1109	c.741G>A	c.(739-741)ccG>ccA	p.P247P	ASIC3_uc003win.2_Silent_p.P247P|ASIC3_uc003wip.2_Silent_p.P247P|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	247					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										AGGAGGAGCCGCCCATCATCG	0.627000														37			20		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941908	52941908	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52941908C>T	uc002pzk.3	+	3	1301	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Nonsense_Mutation_p.R399*	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACGCCTTGCACGACATAGGAA	0.423000														56			3		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7725501	7725501	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:7725501C>T	uc003gkb.4	+	18	2502	c.2502C>T	c.(2500-2502)acC>acT	p.T834T	SORCS2_uc011bwi.2_Silent_p.T662T	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	834	PKD.					integral to membrane	neuropeptide receptor activity	p.D833D(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTACACTGACCGGGGAGCCCA	0.612000														22			3		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53580601	53580601	+	Missense_Mutation	SNP	C	T	T	rs139757854	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:53580601C>T	uc021onn.1	-	2	428	c.260G>A	c.(259-261)cGc>cAc	p.R87H	SLC1A7_uc021onm.1_Intron|SLC1A7_uc001cuy.3_Missense_Mutation_p.R87H|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Missense_Mutation_p.R87H|AX748428_uc001cva.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	87						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R87C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GACGCCCAGGCGGCTAGAGGT	0.662000														39			15		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34006162	34006162	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:34006162C>T	uc011kap.2	+	4	765	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	131	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TTGTGTTCTACGCCAGTGCCA	0.448000														51			31		0	0	1	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603675	28603675	+	Silent	SNP	C	T	T	rs141569114	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:28603675C>T	uc002dqg.2	-	6	1035	c.684G>A	c.(682-684)tcG>tcA	p.S228S	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Silent_p.S228S	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	228					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TCTCCTTGAACGACGTGTGCT	0.552000														104			15		0	0	1	0	0
UQCRC2	7385	broad.mit.edu	37	16	21968871	21968871	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:21968871G>A	uc002djx.3	+	2	387	c.251G>A	c.(250-252)cGt>cAt	p.R84H		NM_003366	NP_003357	P22695	QCR2_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein II (UQCRC2), nuclear gene encoding mitochondrial protein, mRNA.	84					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CATTTGCTGCGTCTTACATCC	0.388000														79			21		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57185885	57185885	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:57185885C>T	uc001cym.4	-	17	2498	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	698										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGATTTTGTTCGGTGGTATCA	0.303000														124			50		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184038753	184038753	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:184038753G>A	uc003fnp.3	+	8	940	c.669G>A	c.(667-669)acG>acA	p.T223T	EIF4G1_uc003fno.2_Silent_p.T164T|EIF4G1_uc010hxw.2_Silent_p.T59T|EIF4G1_uc010hxx.3_Silent_p.T230T|EIF4G1_uc003fnt.3_5'UTR|EIF4G1_uc010hxy.3_Silent_p.T230T|EIF4G1_uc003fnq.3_Silent_p.T136T|EIF4G1_uc003fnr.3_Silent_p.T59T|EIF4G1_uc003fns.3_Silent_p.T183T|EIF4G1_uc003fnv.4_Silent_p.T223T|EIF4G1_uc003fnw.3_Silent_p.T230T|EIF4G1_uc003fnx.3_Silent_p.T27T	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	223					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATGGGGAGACGCCCCAGGTTG	0.532000														10			33		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43917672	43917672	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:43917672C>T	uc003tiw.3	-	5	1447	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.E421K|URGCP_uc003tiv.3_Missense_Mutation_p.E389K|URGCP_uc003tix.3_Missense_Mutation_p.E455K|URGCP_uc003tiy.3_Missense_Mutation_p.E421K|URGCP_uc003tiz.3_Missense_Mutation_p.E421K|URGCP_uc011kbj.2_Missense_Mutation_p.E421K	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	464					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCACAGTCCTCGTCGACCTTT	0.587000														77			24		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167272531	167272531	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:167272531G>T	uc003fev.1	-	5	1011	c.707C>A	c.(706-708)gCt>gAt	p.A236D	WDR49_uc003feu.1_Missense_Mutation_p.A61D|WDR49_uc011bpd.1_Missense_Mutation_p.A289D|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	236										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AATATCCACAGCTCCATCTTG	0.363000														121			4		0.0215528	0.0215982	1	1	0
C20orf196	149840	broad.mit.edu	37	20	5843951	5843951	+	Missense_Mutation	SNP	C	T	T	rs140278441		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:5843951C>T	uc002wmf.3	+	2	547	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA.	154										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GATCTTCAACCGGGACGGCTG	0.522000														48			45		0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11568980	11568980	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11568980C>T	uc002mry.1	-	4	989	c.609G>A	c.(607-609)gcG>gcA	p.A203A	ELAVL3_uc002mrx.1_Silent_p.A203A	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	203	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	p.A203A(2)|p.A203T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTGGGTTGTTCGCGAACTTGA	0.602000														45			26		0	0	1	0	0
TRNT1	51095	broad.mit.edu	37	3	3179092	3179092	+	Silent	SNP	G	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:3179092G>C	uc003bpp.4	+	2	399	c.297G>C	c.(295-297)cgG>cgC	p.R99R	TRNT1_uc010hbv.3_Silent_p.R99R|TRNT1_uc003bpm.2_Non-coding_Transcript	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA.	99					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		CTGGGATTCGGATGATAAACA	0.393000														250			5		0	0	1	0	0
TOMM40	10452	broad.mit.edu	37	19	45397308	45397308	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45397308G>A	uc002paa.4	+	4	824	c.628G>A	c.(628-630)Gtc>Atc	p.V210I	TOMM40_uc002ozz.3_Missense_Mutation_p.V210I|TOMM40_uc002ozx.4_Missense_Mutation_p.V210I|TOMM40_uc002ozy.4_Missense_Mutation_p.V210I	NM_001128917	NP_006105	O96008	TOM40_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast) (TOMM40), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	210					protein targeting to mitochondrion	integral to membrane of membrane fraction|integral to mitochondrial outer membrane|mitochondrial outer membrane translocase complex|pore complex	porin activity|protein transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5	Lung NSC(12;0.0018)|all_lung(12;0.00481)			OV - Ovarian serous cystadenocarcinoma(262;0.0033)|Epithelial(262;0.176)		GAACCCAGACGTCCTCGTGGG	0.577000														23			18		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22012104	22012104	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:22012104C>T	uc003xav.3	-	2	608	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	LGI3_uc010ltu.3_Missense_Mutation_p.A107T	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	107					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCTGTGAAGGCGTTGTCTCCA	0.582000														71			10		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144800421	144800421	+	Missense_Mutation	SNP	G	A	A	rs140275267		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144800421G>A	uc003yzj.3	+	3	276	c.235G>A	c.(235-237)Gtg>Atg	p.V79M		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	79	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCTCCTTGACGTGATCCGGGC	0.617000														47			26		0	0	1	0	0
NDC80	10403	broad.mit.edu	37	18	2610781	2610781	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:2610781C>T	uc002kli.3	+	15	1894	c.1712C>T	c.(1711-1713)aCg>aTg	p.T571M		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	571	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						GTGCAAACCACGACTGAAGAA	0.388000														61			44		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86315989	86315989	+	Missense_Mutation	SNP	T	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:86315989T>G	uc002sqs.3	-	4	924	c.545A>C	c.(544-546)aAg>aCg	p.K182T		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	182					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ACACACGTTCTTTACCTGTTT	0.398000														44			20		0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30097724	30097724	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30097724C>T	uc010veh.2	-	8	1193	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	BOLA2_uc010bzb.1_Intron	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	378					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						GGGGGCTGAGCGCCCGGAGTC	0.697000														15			30		0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30088682	30088682	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:30088682C>T	uc001uso.3	-	12	2212	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	609					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GACGCCTCCTCGCTGTGCCAC	0.667000														13			3		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192794	179192794	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:179192794G>A	uc003mkm.3	+	1	1046	c.783G>A	c.(781-783)tcG>tcA	p.S261S	MAML1_uc003mkn.1_Silent_p.S261S	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	261					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAACAGGTCGGTGCCCGATG	0.547000														39			14		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73615982	73615982	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:73615982C>T	uc002avp.3	-	7	3446	c.2452G>A	c.(2452-2454)Ggt>Agt	p.G818S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	818					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGCCCGGCACCGAGGTTGCCC	0.697000														28			34		0	0	1	0	0
SLC25A6	293	broad.mit.edu	37	X	1506261	1506261	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:1506261G>A	uc004cpt.3	-	2	787	c.650C>T	c.(649-651)gCg>gTg	p.A217V	CRLF2_uc022brt.1_Intron	NM_001636	NP_001627	P12236	ADT3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 (SLC25A6), nuclear gene encoding mitochondrial protein, mRNA.	217					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	CACGGTCTGCGCGATCATCCA	0.692000														33			13		0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850118	3850118	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:3850118C>T	uc003mvu.3	+	1	185	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	FAM50B_uc021ykt.1_Missense_Mutation_p.R25W	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	25						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGAAAGGCAGCGGGAGCAGAT	0.652000														13			12		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6555328	6555328	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6555328G>A	uc001mdw.4	+	13	3487	c.2923G>A	c.(2923-2925)Gtc>Atc	p.V975I		NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	975					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCACCAGCTCGTCTCCCTAGA	0.582000														16			33		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910639	52910639	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52910639G>A	uc001san.3	-	6	1384	c.1221C>T	c.(1219-1221)tgC>tgT	p.C407C	KRT5_uc009zmh.3_Silent_p.C407C	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	407	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGATTGGCGCACTACAGAT	0.572000														30			13		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254036	155254036	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155254036C>T	uc003inw.2	-	8	1827	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	DCHS2_uc003inx.2_Silent_p.A1108A	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	609	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAGTGGGTGCGCCTGTGTTT	0.552000														26			31		0	0	1	0	0
SLC12A9	56996	broad.mit.edu	37	7	100453339	100453339	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100453339C>T	uc003uwp.3	+	3	470	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.3_Intron|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'UTR|SLC12A9_uc003uws.3_5'UTR|SLC12A9_uc003uwt.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	110						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CATGATCAGCCGCACACTGGG	0.572000														79			57		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409549	4409549	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:4409549G>A	uc002mal.3	+	2	853	c.753G>A	c.(751-753)ccG>ccA	p.P251P		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	251	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.P251P(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGACCACCGCAAATCAAGT	0.542000								Chromatin Structure						23			28		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143566068	143566068	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:143566068G>A	uc003ywm.3	+	11	2434	c.2251G>A	c.(2251-2253)Gtc>Atc	p.V751I		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	751					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTTTGTGGACGTCATCGGCTT	0.657000														20			3		0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134009777	134009777	+	Silent	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:134009777C>A	uc001qhb.2	+	1	267	c.243C>A	c.(241-243)tcC>tcA	p.S81S	JAM3_uc009zcz.2_Silent_p.S36S	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	36	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		ATCTCAAATCCAGCAATCGAA	0.438000											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			4		1.024e-07	1.04154e-07	1	1	0
PBK	55872	broad.mit.edu	37	8	27679912	27679912	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:27679912C>T	uc011lap.2	-	4	755	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	PBK_uc003xgi.3_Missense_Mutation_p.R130Q	NM_018492	NP_060962	Q96KB5	TOPK_HUMAN	Homo sapiens PDZ binding kinase (PBK), mRNA.	130	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		GGCTTTATATCGTTCTTCTAT	0.353000														47			38		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66214758	66214758	+	Silent	SNP	G	A	A	rs146260891		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:66214758G>A	uc002apm.2	-	14	2016	c.1875C>T	c.(1873-1875)tgC>tgT	p.C625C	MEGF11_uc002apl.2_Silent_p.C550C|MEGF11_uc002apn.1_Silent_p.C625C	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	625						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCTGTGCACGCAGAGGGGGC	0.637000														71			23		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30864435	30864435	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:30864435C>T	uc003nrv.3	+	11	1704	c.1662C>T	c.(1660-1662)ggC>ggT	p.G554G	DDR1_uc010jse.3_Silent_p.G517G|DDR1_uc003nrq.3_Silent_p.G517G|DDR1_uc003nrr.3_Silent_p.G554G|DDR1_uc003nrs.3_Silent_p.G554G|DDR1_uc003nrt.3_Silent_p.G517G|DDR1_uc011dms.2_Silent_p.G535G|DDR1_uc003nru.3_Silent_p.G517G|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Intron	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	554	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	AGAAGCCAGGCGCCCCGCTTC	0.607000														36			83		0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77222268	77222268	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:77222268A>G	uc001syk.1	+	9	1302	c.1139A>G	c.(1138-1140)aAt>aGt	p.N380S		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	380					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TGGTTTTGGAATGATATCCTT	0.328000														120			32		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524119	24524119	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:24524119C>T	uc002wtw.1	+	1	1019	c.386C>T	c.(385-387)cCg>cTg	p.P129L		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	129					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.P129L(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						CTCGAGTACCCGGATGGGAAG	0.607000														44			10		0	0	1	0	0
TSPAN14	81619	broad.mit.edu	37	10	82269147	82269147	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:82269147C>T	uc001kcj.4	+	4	477	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	TSPAN14_uc009xss.3_Intron|TSPAN14_uc001kci.4_Missense_Mutation_p.R107W	NM_030927	NP_112189	Q8NG11	TSN14_HUMAN	Homo sapiens tetraspanin 14 (TSPAN14), transcript variant 1, mRNA.	124						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			GGACCGGTTCCGGGAGTTCTT	0.582000														12			22		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100141822	100141822	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:100141822G>A	uc010avs.3	+	8	2273	c.2208G>A	c.(2206-2208)ctG>ctA	p.L736L		NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	736	SRCR.				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCGGCTCGCTGCCCATTCTGC	0.697000														22			14		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250128	140250128	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140250128C>T	uc003lia.2	+	0	2298	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.D480D	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	495	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCGCGGGACGCGGACGCGC	0.662000														81			6		0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36909383	36909383	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:36909383T>C	uc001uvn.3	-	2	855	c.585A>G	c.(583-585)tcA>tcG	p.S195S	SPG20_uc010ten.2_Silent_p.S195S|SPG20_uc001uvm.3_Silent_p.S195S|SPG20_uc001uvo.3_Silent_p.S195S|SPG20_uc001uvq.3_Silent_p.S195S|SPG20_uc001uvp.2_Silent_p.S195S	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	195					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTCCAACTGATGAAAACTCCC	0.453000														39			3		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220379312	220379312	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:220379312C>A	uc002vlz.3	+	0	421	c.247C>A	c.(247-249)Cct>Act	p.P83T	ASIC4_uc010fwi.2_Missense_Mutation_p.P83T|ASIC4_uc010fwj.2_Missense_Mutation_p.P83T|ASIC4_uc002vly.2_Missense_Mutation_p.P83T|ASIC4_uc002vma.3_Missense_Mutation_p.P83T|ASIC4_uc002vmb.3_5'Flank	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	83						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CCACCCTGTCCCTGTCCTCTT	0.687000														12			7		0.00448238	0.00451565	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43323076	43323076	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43323076C>A	uc003oux.3	-	3	2074	c.1996G>T	c.(1996-1998)Gct>Tct	p.A666S	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	666					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CGTCGATCAGCTGAGAAGCAG	0.547000														16			34		4.3181e-19	4.47838e-19	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57189672	57189672	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57189672C>T	uc003hbk.2	+	8	3708	c.3317C>T	c.(3316-3318)aCg>aTg	p.T1106M	KIAA1211_uc010iha.2_Missense_Mutation_p.T1099M	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1106										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGCAGGCGACGCGGGAGGAG	0.507000														51			18		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1293799	1293799	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:1293799G>A	uc003jcb.1	-	1	1260	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	TERT_uc003jcc.1_Missense_Mutation_p.A401V|TERT_uc003jca.1_Missense_Mutation_p.A401V|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	401	CP motif.|QFP motif.|RNA-interacting domain 2.|Required for oligomerization.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGGGCACTGCGCGTGGTTCCC	0.697000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					62			3		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901498	129901498	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:129901498G>A	uc001lke.3	-	12	8801	c.8606C>T	c.(8605-8607)aCg>aTg	p.T2869M	MKI67_uc001lkf.3_Missense_Mutation_p.T2509M|MKI67_uc009yav.1_Missense_Mutation_p.T2444M|MKI67_uc009yaw.1_Missense_Mutation_p.T2019M	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2869	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.T2868S(1)|p.T2869T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTCGGTGTGCGTGGTCTCCCC	0.542000														14			33		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161531032	161531032	+	Splice_Site	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:161531032G>A	uc010jjc.3	+	7	1247	c.889_splice	c.e7+1	p.G297_splice	GABRG2_uc003lyy.4_Splice_Site_p.G257_splice|GABRG2_uc003lyz.4_Splice_Site_p.G257_splice|GABRG2_uc011dej.2_Splice_Site_p.G162_splice	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	257					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACAACTTCCGGTAAGATGCA	0.383000														27			38		0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104463685	104463685	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:104463685G>A	uc004ema.3	-	3	1297	c.1185C>T	c.(1183-1185)ttC>ttT	p.F395F	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_3'UTR	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	397						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TCCCACAGTCGAAGCAAGTAT	0.478000														47			39		0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104431775	104431775	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:104431775C>T	uc001yom.4	+	3	556	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C		NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	176	Helicase ATP-binding.				DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTACGTTCAGCGCTCCGCCTA	0.562000														56			19		0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42754628	42754628	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42754628G>A	uc002ote.4	-	1	270	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	ERF_uc002otd.4_5'UTR	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	38					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TCCTCCTTCCGCAGCAGCTCC	0.622000														43			11		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40689347	40689347	+	Silent	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:40689347C>A	uc001rmg.4	+	22	3118	c.2997C>A	c.(2995-2997)gcC>gcA	p.A999A	LRRK2_uc001rmh.1_Silent_p.A621A|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	999					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATATTGATGCCCTAAGCCAGA	0.418000														64			3		6.4e-05	6.46809e-05	1	1	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31843508	31843508	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31843508G>A	uc003akz.2	-	13	2090	c.1892C>T	c.(1891-1893)gCc>gTc	p.A631V	EIF4ENIF1_uc003akx.2_Missense_Mutation_p.A286V|EIF4ENIF1_uc003aky.2_Missense_Mutation_p.A311V|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.A631V|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.A457V|EIF4ENIF1_uc003akw.2_Missense_Mutation_p.A121V	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	631						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGTGGCAAGGCCAGCCCTTC	0.512000														31			23		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133800913	133800913	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:133800913C>T	uc001qgx.4	-	10	1716	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	IGSF9B_uc001qgy.1_Silent_p.T337T	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	495	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CAGTGATGCTCGTGACCACGT	0.682000														35			7		0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30777565	30777565	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30777565G>A	uc002dzq.3	+	8	1895	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K	RNF40_uc010caa.3_Missense_Mutation_p.E359K|RNF40_uc010cab.3_Intron|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.E359K|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	359					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ACTGCAGGCCGAACTTCAGGG	0.587000														94			29		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40916787	40916787	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:40916787A>G	uc010bbs.1	+	10	4564	c.4403A>G	c.(4402-4404)cAg>cGg	p.Q1468R	CASC5_uc010ucq.1_Missense_Mutation_p.Q1292R|CASC5_uc001zme.3_Missense_Mutation_p.Q1442R|CASC5_uc010bbt.1_Missense_Mutation_p.Q1442R	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	1468					CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTTATTCCTCAGCCTCATTTC	0.353000														72			7		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128324245	128324245	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:128324245G>A	uc002top.3	+	4	366	c.313G>A	c.(313-315)Gtc>Atc	p.V105I		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	105	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCTGGTGGCCGTCAACCCGTT	0.637000														2			3		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132221145	132221145	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:132221145G>A	uc003eor.3	+	39	4614	c.4549G>A	c.(4549-4551)Gta>Ata	p.V1517I		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1517							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATTCCCCGCGTAGCTGCTCT	0.403000														99			69		0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15752327	15752327	+	Silent	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15752327C>A	uc010xok.2	+	1	152	c.102C>A	c.(100-102)atC>atA	p.I34I	CYP4F3_uc010xol.2_Silent_p.I34I|CYP4F3_uc002nbj.3_Silent_p.I34I|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Silent_p.I34I	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	34					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.R33H(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TGGCCCGCATCCTGGCCTGGA	0.637000														44			25		3.01185e-09	3.07993e-09	1	1	0
SOGA1	140710	broad.mit.edu	37	20	35467800	35467800	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:35467800G>A	uc021wcx.1	-	1	1072	c.732C>T	c.(730-732)gaC>gaT	p.D244D	SOGA1_uc002xgd.1_Silent_p.D6D	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	6								p.R243R(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCATATAGACGTCCCGCATCT	0.627000														33			35		0	0	1	0	0
DTNB	1838	broad.mit.edu	37	2	25799755	25799755	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:25799755G>A	uc002rgh.3	-	7	1078	c.828C>T	c.(826-828)gcC>gcT	p.A276A	DTNB_uc010yko.2_Silent_p.A219A|DTNB_uc002rgi.3_Silent_p.A276A|DTNB_uc002rgj.3_Silent_p.A276A|DTNB_uc002rgk.3_Silent_p.A276A|DTNB_uc002rgl.3_Silent_p.A276A|DTNB_uc002rgq.3_Silent_p.A276A|DTNB_uc002rgn.3_Silent_p.A72A|DTNB_uc010ykp.2_Silent_p.A72A|DTNB_uc002rgr.1_Silent_p.A265A|DTNB_uc010ykq.1_Silent_p.A129A	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	276						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGCCGCCGGCATGGCCAC	0.527000														43			14		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201060823	201060823	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:201060823G>A	uc001gvv.3	-	4	866	c.639C>T	c.(637-639)atC>atT	p.I213I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	213					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCTCCAGCCCGATGATGGCAT	0.567000														60			28		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38773263	38773263	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:38773263G>A	uc021yzh.1	+	22	3150	c.3041G>A	c.(3040-3042)cGg>cAg	p.R1014Q	DNAH8_uc003ooe.2_Missense_Mutation_p.R797Q	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATAGAACAGCGGAAACACGTT	0.328000														13			25		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38510729	38510729	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:38510729T>C	uc010ive.1	-	6	1160	c.828A>G	c.(826-828)aaA>aaG	p.K276K	LIFR_uc003jli.2_Silent_p.K276K	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	276					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGATAACACTTTTTCTTGAC	0.378000			T	PLAG1	salivary adenoma									123			11		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980709	75980709	+	Silent	SNP	C	T	T	rs144209551		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75980709C>T	uc002baw.3	-	2	2790	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	899	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGAGGACAGGCGCATCTGGGT	0.567000														55			41		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52645320	52645320	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:52645320C>T	uc002xws.2	-	3	672	c.334G>A	c.(334-336)Gca>Aca	p.A112T	BCAS1_uc010zzb.1_Missense_Mutation_p.A15T|BCAS1_uc010gim.2_Missense_Mutation_p.A15T|BCAS1_uc002xwt.2_Missense_Mutation_p.A112T|BCAS1_uc010gil.1_Missense_Mutation_p.A112T|BCAS1_uc010zzc.2_Missense_Mutation_p.A15T	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	112						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GATGAATCTGCGGCTTGGTCT	0.532000														58			23		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78641898	78641898	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:78641898G>A	uc004akc.2	+	4	1115	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCSK5_uc004ajy.2_Missense_Mutation_p.V193M|PCSK5_uc004ajz.3_Missense_Mutation_p.V193M|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	193	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAGTTGCGACGTGAATGGGAA	0.512000														113			7		0	0	1	0	0
SLC2A8	29988	broad.mit.edu	37	9	130167788	130167788	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130167788G>A	uc004bqu.3	+	8	1285	c.1240G>A	c.(1240-1242)Gtc>Atc	p.V414I	SLC2A8_uc010mxj.3_Intron	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	414						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						AGGCATCTGCGTCCTCACCAA	0.632000														13			18		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7472278	7472278	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:7472278G>A	uc003src.1	-	23	2031	c.1914C>T	c.(1912-1914)ggC>ggT	p.G638G	COL28A1_uc011jxe.1_Silent_p.G321G|COL28A1_uc003srd.3_Silent_p.G193G|COL28A1_uc003sre.1_Silent_p.G59G	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	638					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CACCAGGATAGCCATCACCTT	0.488000														52			9		0	0	1	0	0
GIT2	9815	broad.mit.edu	37	12	110390995	110390995	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:110390995C>T	uc001tps.2	-	12	1309	c.1144G>A	c.(1144-1146)Gtt>Att	p.V382I	TCHP_uc001tpo.1_Non-coding_Transcript|GIT2_uc001tpq.2_Missense_Mutation_p.V382I|GIT2_uc001tpv.2_Missense_Mutation_p.V384I|GIT2_uc001tpu.2_Missense_Mutation_p.V382I|GIT2_uc001tpt.2_Missense_Mutation_p.V382I|GIT2_uc010sxu.1_Missense_Mutation_p.V320I|GIT2_uc001tpw.3_Missense_Mutation_p.V382I|GIT2_uc010sxv.1_Missense_Mutation_p.V382I	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	382					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TGACTCTCAACGCTGTGCTGG	0.428000														65			34		0	0	1	0	0
TPSD1	23430	broad.mit.edu	37	16	1306311	1306311	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306311C>T	uc002clb.1	+	0	39	c.30C>T	c.(28-30)agC>agT	p.S10S	TPSD1_uc010brm.1_5'Flank	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	10					proteolysis	extracellular region	serine-type endopeptidase activity	p.S10I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AGATGCTGAGCCTGCTGCTGC	0.682000														51			18		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52552013	52552013	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:52552013C>T	uc003dej.3	+	44	4829	c.4755C>T	c.(4753-4755)gtC>gtT	p.V1585V	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1585	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GTGCCCGAGTCGGCCTGGTAA	0.602000														30			19		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140740942	140740942	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140740942G>A	uc003ljs.2	+	0	1240	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.E414K|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	416	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCGGGAGGAGATCCCAGA	0.502000														50			12		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18975462	18975462	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:18975462C>T	uc003sui.3	+	21	2875	c.2834C>T	c.(2833-2835)aCa>aTa	p.T945I	HDAC9_uc003sue.3_Missense_Mutation_p.T942I|HDAC9_uc003suh.3_Missense_Mutation_p.T942I|HDAC9_uc003suj.3_Missense_Mutation_p.T901I|HDAC9_uc003suk.3_Missense_Mutation_p.T190I	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	942	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CAATTGATGACATTGGCTGAT	0.398000														81			65		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187209727	187209727	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:187209727G>A	uc003iza.1	+	14	2170	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	LOC285441_uc003izb.2_Non-coding_Transcript	NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	613	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.E613E(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CAACGTGGTCGAGTACGTGGA	0.567000														83			5		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156814312	156814312	+	Silent	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156814312G>T	uc010pht.2	-	13	2978	c.2679C>A	c.(2677-2679)acC>acA	p.T893T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	893	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCCAGTGAGGTTGCCCTAA	0.572000														41			29		1.39806e-14	1.44364e-14	1	1	0
SLC45A1	50651	broad.mit.edu	37	1	8385423	8385423	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:8385423C>T	uc001apb.3	+	1	463	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	155					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAAGGAGACGCCCTTTCAT	0.483000														130			4		0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65744159	65744159	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65744159C>T	uc001ogl.3	+	13	1871	c.1779C>T	c.(1777-1779)aaC>aaT	p.N593N		NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	593					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCTCAGCCAACGGTGGCTCCG	0.672000														22			7		0	0	1	0	0
NTHL1	4913	broad.mit.edu	37	16	2093638	2093638	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2093638C>T	uc002col.1	-	3	658	c.639G>A	c.(637-639)gcG>gcA	p.A213A	TCRBV20S1_uc021tak.1_Intron	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.	213					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CACCCGGCAGCGCCACCAGCT	0.627000								Base excision repair (BER), DNA glycosylases						31			12		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56335939	56335939	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:56335939G>A	uc003pcy.4	-	75	14525	c.14417C>T	c.(14416-14418)aCg>aTg	p.T4806M	DST_uc003pcx.4_5'Flank	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7218					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCCTGCCGCGTTATTTTCCC	0.363000														78			3		0	0	1	0	0
WRAP73	49856	broad.mit.edu	37	1	3547644	3547644	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3547644G>A	uc001ako.3	-	11	1386	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	WRAP73_uc001akn.3_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	426						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						TCGAGTCTCCGCTTAAATGCC	0.602000														65			3		0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147439	54147439	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:54147439C>T	uc003xrh.1	-	1	865	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	OPRK1_uc022aup.1_Missense_Mutation_p.V44M|OPRK1_uc003xri.1_Missense_Mutation_p.V164M|OPRK1_uc010lyc.1_Missense_Mutation_p.V75M	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	164					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AAAGCCTTCACGGGGTGGCAC	0.488000														70			17		0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139251392	139251392	+	Silent	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:139251392G>T	uc003lev.2	-	3	1256	c.1026C>A	c.(1024-1026)gcC>gcA	p.A342A	NRG2_uc003lew.2_Silent_p.A342A|NRG2_uc003lex.2_Silent_p.A342A|NRG2_uc003ley.2_Silent_p.A342A|NRG2_uc021yed.1_Intron	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	342	EGF-like.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCACTTCCGGGCGTGCCCCG	0.562000														59			13		2.48551e-13	2.56377e-13	1	1	0
ANAPC2	29882	broad.mit.edu	37	9	140074818	140074818	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140074818G>A	uc004clr.1	-	9	1778	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	ANAPC2_uc004clq.1_Missense_Mutation_p.R425C	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	569					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GCATTGATGCGGCGGGAGTCC	0.677000														12			13		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1612076	1612076	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1612076G>A	uc002cmb.3	-	17	2471	c.2109C>T	c.(2107-2109)caC>caT	p.H703H	IFT140_uc002clz.3_Silent_p.H354H	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	703										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCAGGAAGCCGTGCTCTTCGG	0.463000														7			11		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020791	5020791	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:5020791G>T	uc001qnh.3	+	1	1352	c.247G>T	c.(247-249)Gac>Tac	p.D83Y	KCNA1_uc021qts.1_Missense_Mutation_p.D83Y	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	83					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTACTTCTTCGACCGCAACCG	0.632000														48			9		5.50884e-06	5.58527e-06	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79322501	79322501	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:79322501T>C	uc010mpk.3	-	7	4813	c.4689A>G	c.(4687-4689)caA>caG	p.Q1563Q	PRUNE2_uc022bih.1_Silent_p.Q1385Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1563					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAGAACTGGGTTGCTGGCCCC	0.413000														106			5		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36279135	36279135	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36279135C>T	uc002obs.2	+	20	3329	c.3185C>T	c.(3184-3186)cCg>cTg	p.P1062L	ARHGAP33_uc002obt.2_Missense_Mutation_p.P1059L|ARHGAP33_uc002obv.1_Missense_Mutation_p.P811L	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	1223					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATAGGGTGCCGGGTCCCTGG	0.692000														26			17		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89498501	89498501	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:89498501T>C	uc003dqy.3	+	13	2698	c.2473T>C	c.(2473-2475)Tac>Cac	p.Y825H	EPHA3_uc021xbf.1_Missense_Mutation_p.Y825H	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	825	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding	p.P824P(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGAGAGACCATACTGGGAGAT	0.438000										TSP Lung(6;0.00050)				149			108		0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4830934	4830934	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:4830934G>A	uc003sne.3	+	16	2427	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	AP5Z1_uc010ksp.3_Non-coding_Transcript|AP5Z1_uc003snf.3_Missense_Mutation_p.R258H|MIR4656_uc021zzb.1_5'Flank	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	781					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CGCTATCACCGCGATGCCAAC	0.687000														113			5		0	0	1	0	0
BSG	682	broad.mit.edu	37	19	579590	579590	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:579590A>G	uc002loz.3	+	2	604	c.506A>G	c.(505-507)cAc>cGc	p.H169R	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_5'UTR|BSG_uc002lpa.3_Missense_Mutation_p.H53R|BSG_uc002lpc.3_Missense_Mutation_p.H216R	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	169	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCACAGGGCACCGCTGGCTG	0.627000														28			18		0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239079272	239079272	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:239079272G>A	uc002vxv.3	-	11	1214	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	ILKAP_uc010zns.2_Missense_Mutation_p.R294C|ILKAP_uc002vxw.3_Missense_Mutation_p.R242C|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Missense_Mutation_p.R244C	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	362	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GCTTCGTAGCGGGCGTCGGCT	0.607000														41			6		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299514	125299514	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:125299514G>A	uc004euk.2	-	0	567	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	132								p.R132L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGGGGGATGCGCGTGATGTGG	0.637000														64			12		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145428792	145428792	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:145428792G>A	uc003lnt.3	+	6	1544	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	SH3RF2_uc011dbl.1_Missense_Mutation_p.V436I|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	436	SH3 3.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACAATTACGTCATCCCCAT	0.607000											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			5		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132474512	132474512	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:132474512G>A	uc001ujn.3	+	7	2565	c.2413G>A	c.(2413-2415)Gtt>Att	p.V805I	EP400_uc021rgq.1_Missense_Mutation_p.V804I|EP400_uc001ujm.3_Missense_Mutation_p.V805I|EP400_uc001ujj.2_Missense_Mutation_p.V768I|EP400_uc001ujk.3_Missense_Mutation_p.V841I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	841	HSA.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCACCAGCTCGTTAGAACTGT	0.448000														30			4		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15297722	15297722	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15297722G>A	uc002nan.3	-	11	1994	c.1918C>T	c.(1918-1920)Cgc>Tgc	p.R640C	NOTCH3_uc002nao.1_Missense_Mutation_p.R640C	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	640	EGF-like 16; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CAGTCGTAGCGGTTGATGCCA	0.582000														42			15		0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100268909	100268909	+	RNA	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:100268909C>T	uc021xqi.1	-	1		c.198G>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CACCTTAATGCGAACTTCATG	0.333000														150			4		0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118588925	118588925	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:118588925G>A	uc001twx.3	-	20	2869	c.2574C>T	c.(2572-2574)agC>agT	p.S858S	TAOK3_uc001twv.3_Silent_p.S398S|TAOK3_uc001tww.3_Silent_p.S688S|TAOK3_uc001twy.4_Silent_p.S858S	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	858					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTATTCTCTCGCTGCGTTCCT	0.458000														27			13		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65146953	65146953	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:65146953G>A	uc001dbo.1	+	24	3371	c.3266G>A	c.(3265-3267)cGt>cAt	p.R1089H	CACHD1_uc001dbp.1_Missense_Mutation_p.R844H|CACHD1_uc001dbq.1_Missense_Mutation_p.R844H|CACHD1_uc010opa.1_Missense_Mutation_p.R333H	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	1140					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATGTCAGTGCGTATGTCCAAC	0.443000														121			6		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117262985	117262985	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:117262985G>A	uc001prc.3	+	17	2474	c.2327G>A	c.(2326-2328)cGg>cAg	p.R776Q	CEP164_uc001prb.3_Missense_Mutation_p.R779Q|CEP164_uc010rxk.1_Missense_Mutation_p.R750Q|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.R209Q	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	776	Glu-rich.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAGCTGGAGCGGCTCTGCTCC	0.597000														19			3		0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925896	67925896	+	Silent	SNP	G	A	A	rs149239650	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:67925896G>A	uc001onm.1	-	10	2173	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	SUV420H1_uc009yse.1_Silent_p.D225D|SUV420H1_uc001onn.1_Silent_p.D467D|SUV420H1_uc009ysf.2_Silent_p.D399D	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GTACCGCGTCGTCTTTTCCAG	0.507000														56			57		0	0	1	0	0
CROCCP3	114819	broad.mit.edu	37	1	16817159	16817159	+	RNA	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:16817159C>T	uc001ays.2	-	2		c.257G>A			CROCCP3_uc001ayt.2_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 3 (CROCCP3), non-coding RNA.																		CAGCTCCTTGCGGCTGCGTGT	0.647000														17			5		0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75555313	75555313	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:75555313G>T	uc001xrl.3	-	19	2628	c.2474C>A	c.(2473-2475)cCt>cAt	p.P825H	NEK9_uc001xrj.3_Missense_Mutation_p.P44H|NEK9_uc001xrk.3_Missense_Mutation_p.P325H	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	825	Interaction with NEK6.|Pro/Ser/Thr-rich.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TGGGCTGTCAGGCATGGGGAT	0.448000											OREG0022811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		110			22		7.45023e-12	7.65158e-12	1	1	0
TMEM184A	202915	broad.mit.edu	37	7	1588279	1588279	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:1588279G>A	uc003skv.4	-	6	1007	c.690C>T	c.(688-690)tcC>tcT	p.S230S	TMEM184A_uc003skt.4_Silent_p.S209S|TMEM184A_uc021zyr.1_Silent_p.S35S	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	230						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CGAGGCTGACGGAGGCGTTGT	0.637000														117			12		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33666433	33666433	+	Silent	SNP	G	A	A	rs145406953		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:33666433G>A	uc002nui.3	+	10	1452	c.1374G>A	c.(1372-1374)tcG>tcA	p.S458S	TRNA_Thr_uc021usc.1_5'Flank	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CATCATCATCGGAAAGGGAGA	0.522000														52			32		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49218734	49218734	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:49218734C>T	uc010zyt.2	-	12	1785	c.1534G>A	c.(1534-1536)Ggg>Agg	p.G512R	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.G508R|FAM65C_uc002xvn.1_Missense_Mutation_p.G508R	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	508								p.V511M(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGCCAGGCCCGTCCTCTCTG	0.697000														37			3		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69656278	69656278	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:69656278G>A	uc001sut.4	+	8	1705	c.1595G>A	c.(1594-1596)cGg>cAg	p.R532Q	CPSF6_uc001suu.4_Missense_Mutation_p.R569Q|CPSF6_uc010stk.2_Missense_Mutation_p.R164Q	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	532	Arg-rich.|Sufficient for nuclear targeting.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GAGAGGCACCGGGATcgtgac	0.493000														58			23		0	0	1	0	0
VDR	7421	broad.mit.edu	37	12	48272845	48272845	+	Missense_Mutation	SNP	G	A	A	rs147496897		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:48272845G>A	uc001rql.3	-	2	603	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	VDR_uc001rqm.3_Missense_Mutation_p.R18W|VDR_uc001rqn.3_Missense_Mutation_p.R18W|VDR_uc010slq.2_5'UTR	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	18					decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCACGTTCCGGTCAAAGTCT	0.587000														15			20		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247407	56247407	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56247407C>T	uc010wnp.2	+	0	391	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CCGGCCCCTCCGCTATGTCAC	0.567000														6			30		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108201014	108201014	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:108201014C>T	uc001pkb.1	+	49	7766	c.7381C>T	c.(7381-7383)Cgc>Tgc	p.R2461C	ATM_uc009yxr.1_Missense_Mutation_p.R2461C|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.R1113C|ATM_uc001pkg.1_Missense_Mutation_p.R818C	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2461	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGATCGTAAACGCTTCTTATG	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				26			36		0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151339349	151339349	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151339349G>A	uc010pcy.2	-	5	769	c.639C>T	c.(637-639)ttC>ttT	p.F213F	SELENBP1_uc001exx.3_Silent_p.F171F|SELENBP1_uc010pcz.2_Silent_p.F109F|SELENBP1_uc001eya.3_Silent_p.F107F	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	171					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTCACCTCGAACGTCTCCC	0.582000														24			9		0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91371798	91371798	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:91371798T>C	uc001kgp.2	-	1	981	c.711A>G	c.(709-711)ccA>ccG	p.P237P	PANK1_uc001kgn.2_Silent_p.P12P|PANK1_uc001kgo.2_Silent_p.P12P|PANK1_uc009xtu.2_Silent_p.P39P	NM_148977	NP_683878	Q8TE04	PANK1_HUMAN	Homo sapiens pantothenate kinase 1 (PANK1), transcript variant alpha, mRNA.	237					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TGCCAAACCATGGGAATGCTA	0.433000														3			12		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54358459	54358459	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:54358459G>A	uc002lgk.1	+	7	941	c.730G>A	c.(730-732)Gga>Aga	p.G244R	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.G244R	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	244								p.A243A(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GTTCGATGCCGGAGACTATTC	0.398000														147			7		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12858741	12858741	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:12858741G>A	uc003bxk.2	+	9	2359	c.2310G>A	c.(2308-2310)ccG>ccA	p.P770P	CAND2_uc003bxj.2_Silent_p.P677P	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	770					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCGTCCCCCGTGTGTGGACT	0.627000														80			21		0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676393	33676393	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:33676393G>A	uc003zth.4	-	0	1026	c.155C>T	c.(154-156)gCg>gTg	p.A52V						Homo sapiens phosphatase and tensin homolog pseudogene 1 (PTENP1), non-coding RNA.																		AGGATATTGCGCAACTCTGTA	0.368000														69			49		0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83557759	83557759	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:83557759C>T	uc003hna.2	-	3	1107	c.787G>A	c.(787-789)Gct>Act	p.A263T		NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	263					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GCACCCAGAGCGACGAGTGGG	0.552000														74			26		0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73570174	73570174	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:73570174G>A	uc010ttu.2	+	10	1418	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	RBM25_uc001xno.3_Missense_Mutation_p.R381H|RBM25_uc001xnp.3_Missense_Mutation_p.R176H	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	381	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AATAAGGATCGCAGTCGATCA	0.468000														32			21		0	0	1	0	0
PTTG2	10744	broad.mit.edu	37	4	37962188	37962188	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:37962188C>T	uc011bye.2	+	0	133	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	45					DNA metabolic process|chromosome organization	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						TTTAACACGACGTTTTGGCAA	0.463000														52			39		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76645327	76645327	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:76645327C>T	uc003kfa.3	+	7	1005	c.960C>T	c.(958-960)agC>agT	p.S320S	PDE8B_uc003kfd.3_Intron|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Silent_p.S300S|PDE8B_uc003kfc.3_Silent_p.S320S	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	320	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TGCCCAAAAGCGATAAGAACC	0.502000														83			22		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117797539	117797539	+	Missense_Mutation	SNP	G	A	A	rs148674204	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:117797539G>A	uc004bjj.4	-	21	6143	c.5731C>T	c.(5731-5733)Cgg>Tgg	p.R1911W	TNC_uc010mvf.3_Missense_Mutation_p.R1638W|TNC_uc022bmj.1_Missense_Mutation_p.R1548W	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGATGCCCGGGGGGGTCGC	0.478000														24			8		0	0	1	0	0
C22orf34	348645	broad.mit.edu	37	22	50018190	50018190	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50018190C>T	uc003bit.3	-	2	357	c.274G>A	c.(274-276)Gca>Aca	p.A92T	C22orf34_uc003biq.3_Intron					Homo sapiens chromosome 22 open reading frame 34 (C22orf34), non-coding RNA.											pancreas(1)	1						GCACAGCGTGCGTTTATGAAC	0.617000														31			23		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47189694	47189694	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:47189694G>A	uc003bib.3	+	2	582	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	TBC1D22A_uc010haf.3_Missense_Mutation_p.R109Q|TBC1D22A_uc003bie.3_Missense_Mutation_p.R120Q|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.R92Q	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	139						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGCGACCTCCGGCTGGTGAAG	0.667000														37			8		0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206425	49206425	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49206425G>A	uc002pke.4	+	1	323	c.212G>A	c.(211-213)cGc>cAc	p.R71H	FUT2_uc010emc.3_Missense_Mutation_p.R71H|FUT2_uc021uwx.1_Missense_Mutation_p.R71H	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	71					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCAATAGGCCGCCTGGGGAAC	0.622000														12			6		0	0	1	0	0
CNTD2	79935	broad.mit.edu	37	19	40730407	40730407	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40730407G>A	uc010xvi.2	-	2	550	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_uc002ond.3_Non-coding_Transcript	NM_024877	NP_079153	B4DX65	B4DX65_HUMAN	Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA.	167					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592000														37			13		0	0	1	0	0
CHORDC1	26973	broad.mit.edu	37	11	89935620	89935620	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:89935620G>T	uc001pdg.2	-	10	1362	c.952C>A	c.(952-954)Cct>Act	p.P318T	CHORDC1_uc009yvz.2_Missense_Mutation_p.P299T	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.	318					chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTAGCTGCAGGCAGTTCAAGG	0.393000														64			79		8.6486e-37	8.99909e-37	1	1	0
TTN	7273	broad.mit.edu	37	2	179578856	179578856	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:179578856C>T	uc021vsy.1	-	88	23022	c.22797G>A	c.(22795-22797)acG>acA	p.T7599T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.T4260T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8526	Ig-like 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T7599T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTGTCTCCCGTGGTAACTT	0.378000														23			56		0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102164267	102164267	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:102164267G>A	uc001tit.3	-	8	1222	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	GNPTAB_uc001tiu.2_Missense_Mutation_p.R344W	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	344					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						AAAATATTCCGAACCCATGGT	0.453000														37			21		0	0	1	0	0
CEMP1	752014	broad.mit.edu	37	16	2580968	2580968	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2580968C>T	uc002cqr.3	-	0	442	c.107G>A	c.(106-108)gGc>gAc	p.G36D		NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	Homo sapiens cementum protein 1 (CEMP1), mRNA.	36						cytoplasm				lung(1)|skin(1)	2						AGCTGTCTTGCCAGGGCTCCC	0.632000														34			11		0	0	1	0	0
C12orf60	144608	broad.mit.edu	37	12	14976228	14976228	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:14976228C>T	uc001rcj.4	+	1	563	c.359C>T	c.(358-360)aCg>aTg	p.T120M	C12orf60_uc021qvq.1_Missense_Mutation_p.T120M	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	120										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AGTGCCCATACGCCAGTCATC	0.428000														107			17		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51173805	51173805	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:51173805C>T	uc021tif.1	-	1	2359	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SALL1_uc021tid.1_Silent_p.T679T|SALL1_uc021tie.1_Silent_p.T776T|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	776					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T776T(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCACAGCGTTCGTGAACTTCT	0.557000														85			4		0	0	1	0	0
RASSF4	83937	broad.mit.edu	37	10	45485141	45485141	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:45485141C>T	uc001jbp.3	+	6	2299	c.750C>T	c.(748-750)ttC>ttT	p.F250F	RASSF4_uc001jbo.3_Silent_p.F219F|RASSF4_uc009xmn.3_Silent_p.F149F|RASSF4_uc001jbq.3_Silent_p.F116F|RASSF4_uc001jbt.3_Silent_p.F176F			Q9H2L5	RASF4_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA.	219	Ras-associating.				cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCAGTGAGTTCGCACTCTACA	0.557000														15			22		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30748499	30748499	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:30748499C>T	uc002dze.1	+	33	7523	c.7138C>T	c.(7138-7140)Cgg>Tgg	p.R2380W	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.R2175W	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2380					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.R2380W(2)|p.R2380L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGGCACCCACCGGCGCAGTAA	0.652000														34			4		0	0	1	0	0
HES4	57801	broad.mit.edu	37	1	934923	934923	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:934923C>T	uc010nyc.1	-	1	552	c.353G>A	c.(352-354)cGt>cAt	p.R118H	HES4_uc001aci.2_Missense_Mutation_p.R92H	NM_001142467	NP_001135939	Q9HCC6	HES4_HUMAN	Homo sapiens hairy and enhancer of split 4 (Drosophila) (HES4), transcript variant 1, mRNA.	92	Orange.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			lung(2)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCACGCGACGCAGGCTCCG	0.736000														7			8		0	0	1	0	0
JAM3	83700	broad.mit.edu	37	11	134009776	134009776	+	Missense_Mutation	SNP	C	A	A	rs143947882		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:134009776C>A	uc001qhb.2	+	1	266	c.242C>A	c.(241-243)tCc>tAc	p.S81Y	JAM3_uc009zcz.2_Missense_Mutation_p.S36Y	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	36	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		AATCTCAAATCCAGCAATCGA	0.443000											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			4		1.024e-07	1.04154e-07	1	1	0
RSU1	6251	broad.mit.edu	37	10	16858984	16858984	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:16858984C>T	uc001iok.3	-	0	399	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	RSU1_uc001iol.3_Missense_Mutation_p.V33I|RSU1_uc001iom.3_Intron|RSU1_uc001ion.3_Missense_Mutation_p.V33I	NM_152724	NP_689937	Q15404	RSU1_HUMAN	Homo sapiens Ras suppressor protein 1 (RSU1), transcript variant 2, mRNA.	33					cell junction assembly|signal transduction	cytosol	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(1;7.54e-08)		AGGCCGTTGACATCCAGCATG	0.562000														39			3		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63966709	63966709	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:63966709G>A	uc002amp.3	-	37	7826	c.7678C>T	c.(7678-7680)Cga>Tga	p.R2560*		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2560					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGGCTGCTCGCATCTCCACG	0.493000														92			60		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53663207	53663207	+	Missense_Mutation	SNP	C	T	T	rs145536592		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53663207C>T	uc001sck.2	+	2	572	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	161					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTGTTGGAACGGCGAGCTGC	0.577000														58			15		0	0	1	0	0
TSPO	706	broad.mit.edu	37	22	43558971	43558971	+	Missense_Mutation	SNP	C	T	T	rs41371752		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:43558971C>T	uc003bdn.3	+	3	589	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	TSPO_uc003bdo.3_Missense_Mutation_p.A68V	NM_000714	NP_000705	B1AH88	TSPOB_HUMAN	Homo sapiens translocator protein (18kDa) (TSPO), transcript variant PBR, mRNA.	0										endometrium(1)|prostate(1)	2		Ovarian(80;0.0694)				CCATGGCTGGCGTGGGGGACG	0.677000														45			13		0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40573994	40573994	+	Missense_Mutation	SNP	C	T	T	rs144763141		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:40573994C>T	uc003ckm.2	+	4	949	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	ZNF621_uc003ckn.2_Missense_Mutation_p.R245C|ZNF621_uc003cko.2_Missense_Mutation_p.R210C|ZNF621_uc011aze.1_Missense_Mutation_p.R237C	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AAAGGCTTTCCGTAGGAGTGC	0.453000														28			30		0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74554873	74554873	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74554873C>T	uc002axo.3	+	2	672	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	296							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGGGGGACACGGTGAATGTG	0.582000														58			9		0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12865478	12865478	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12865478C>T	uc002mux.3	+	2	360	c.360C>T	c.(358-360)cgC>cgT	p.R120R		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	120					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGACGACCGCGGCCGCCTCT	0.697000														19			3		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109882246	109882246	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:109882246G>A	uc010sxn.1	+	28	2857	c.2857G>A	c.(2857-2859)Gtt>Att	p.V953I	MYO1H_uc010sxo.1_Missense_Mutation_p.V144I	NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	144						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGGGATGCCGTTTTGCAGTG	0.453000														38			22		0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73689005	73689005	+	Missense_Mutation	SNP	C	T	T	rs145061662		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:73689005C>T	uc001oup.1	-	3	643	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_003355	NP_003346	P55851	UCP2_HUMAN	Homo sapiens uncoupling protein 2 (mitochondrial, proton carrier) (UCP2), nuclear gene encoding mitochondrial protein, mRNA.	88					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GCTCATTTGGCGCTGCAGGCC	0.597000														49			17		0	0	1	0	0
ZDHHC13	54503	broad.mit.edu	37	11	19170818	19170818	+	Silent	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:19170818C>A	uc001mpi.3	+	4	564	c.459C>A	c.(457-459)atC>atA	p.I153I	ZDHHC13_uc001mpj.3_Silent_p.I23I|Mir_340_uc021qes.1_5'Flank	NM_019028	NP_001001483	Q8IUH4	ZDH13_HUMAN	Homo sapiens zinc finger, DHHC-type containing 13 (ZDHHC13), transcript variant 1, mRNA.	153					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TCAGCAGCATCCACCTGGCAG	0.403000														93			30		5.60225e-13	5.77238e-13	1	1	0
WDR7	23335	broad.mit.edu	37	18	54591323	54591323	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:54591323G>A	uc002lgk.1	+	21	3908	c.3697G>A	c.(3697-3699)Gag>Aag	p.E1233K	WDR7_uc002lgl.1_Missense_Mutation_p.E1200K	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1233										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCCGATGCCGAGAAACAACT	0.428000														184			42		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6471284	6471284	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6471284G>T	uc001qnw.3	-	2	1249	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	SCNN1A_uc001qnv.3_5'UTR|SCNN1A_uc001qnx.3_Missense_Mutation_p.L270M|SCNN1A_uc010sfb.2_Missense_Mutation_p.L293M	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	270					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCCTCCTCCAGGGATGGCAGA	0.592000														45			28		3.03874e-20	3.15498e-20	1	1	0
WFDC1	58189	broad.mit.edu	37	16	84353088	84353088	+	Missense_Mutation	SNP	C	T	T	rs145066295		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:84353088C>T	uc002fhv.3	+	3	650	c.473C>T	c.(472-474)tCg>tTg	p.S158L	WFDC1_uc002fhw.3_Missense_Mutation_p.S158L	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	Homo sapiens WAP four-disulfide core domain 1 (WFDC1), mRNA.	158					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity	p.S158L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTCTGTCCCTCGGGCTATGAG	0.662000														6			8		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15711251	15711251	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:15711251G>A	uc002ddr.3	-	13	3069	c.2862C>T	c.(2860-2862)caC>caT	p.H954H	KIAA0430_uc002ddq.3_Silent_p.H788H|KIAA0430_uc010uzv.2_Silent_p.H951H|KIAA0430_uc010uzw.2_Silent_p.H954H	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	953						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGGAGCCGTCGTGTGACTGGG	0.537000														45			23		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671194	49671194	+	Silent	SNP	G	A	A	rs151294188	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:49671194G>A	uc002efs.3	-	4	2167	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	ZNF423_uc010vgn.2_Silent_p.S506S	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	623					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGAGTTGGCGCTTGCTGAGA	0.577000														39			19		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40366434	40366434	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40366434G>A	uc002omp.4	-	29	13808	c.13800C>T	c.(13798-13800)cgC>cgT	p.R4600R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4600	VWFD 11.					extracellular region	protein binding	p.R4600R(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCGCCGGCACGCGCAGGCGCA	0.672000														40			30		0	0	1	0	0
GLCE	26035	broad.mit.edu	37	15	69548276	69548276	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:69548276G>T	uc002ary.1	+	2	359	c.131G>T	c.(130-132)aGt>aTt	p.S44I		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	44					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						CGGCGTTCGAGTAGTGGCTTC	0.438000														125			32		3.11337e-16	3.2184e-16	1	1	0
BACH2	60468	broad.mit.edu	37	6	90661558	90661558	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:90661558C>T	uc011eab.2	-	6	1141	c.267G>A	c.(265-267)ccG>ccA	p.P89P	BACH2_uc003pnw.3_Silent_p.P89P|BACH2_uc010kch.3_Silent_p.P89P	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	89	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGTAACAGCGGCCCAAAGC	0.527000														6			40		0	0	1	0	0
CREB3	10488	broad.mit.edu	37	9	35736467	35736467	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35736467C>T	uc003zxv.3	+	8	1313	c.860C>T	c.(859-861)cCg>cTg	p.P287L	CREB3_uc010mla.3_Missense_Mutation_p.P206L	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	311					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		TCAGAAGTGCCGAAAGACAGC	0.587000											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			3		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942815	144942815	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144942815G>A	uc003zaa.1	-	0	4620	c.4607C>T	c.(4606-4608)gCg>gTg	p.A1536V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1536						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GATCAGCTGCGCCCTGAACAG	0.652000														41			12		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951743	30951743	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:30951743C>T	uc003aig.1	-	3	609	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	GAL3ST1_uc003aih.1_Missense_Mutation_p.A157T|GAL3ST1_uc003aii.1_Missense_Mutation_p.A157T|GAL3ST1_uc010gvz.1_Missense_Mutation_p.A157T	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	157					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.N156N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						ATGAAGATGGCGTTGGTCGGC	0.657000														29			33		0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	98943420	98943420	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:98943420C>T	uc003yic.3	+	2	613	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	MATN2_uc003yib.1_Missense_Mutation_p.R128W|MATN2_uc010mbh.1_Missense_Mutation_p.R128W|MATN2_uc003yid.3_Missense_Mutation_p.R128W|MATN2_uc003yie.1_Missense_Mutation_p.R128W|MATN2_uc010mbi.1_Missense_Mutation_p.R2W	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	128	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding	p.R128W(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CAAGAGGATGCGGCATCTGTC	0.587000														36			19		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781258	128781258	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:128781258C>T	uc001qet.3	+	1	404	c.90C>T	c.(88-90)cgC>cgT	p.R30R	KCNJ5_uc009zck.3_Silent_p.R30R|KCNJ5_uc001qew.3_Silent_p.R30R	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	30					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R30H(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AACAGGCCCGCGATTATGTCC	0.582000														42			18		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822644	72822644	+	Silent	SNP	C	T	T	rs138129897	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:72822644C>T	uc002fck.3	-	9	10204	c.9531G>A	c.(9529-9531)tcG>tcA	p.S3177S	ZFHX3_uc002fcl.3_Silent_p.S2263S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3177					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGAGCTCAGCGACGCTGAGG	0.607000														29			3		0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18287023	18287023	+	Missense_Mutation	SNP	C	T	T	rs149645929		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:18287023C>T	uc010zrv.1	+	3	415	c.212C>T	c.(211-213)cCg>cTg	p.P71L	ZNF133_uc010gcq.2_Missense_Mutation_p.P68L|ZNF133_uc010zrw.1_5'UTR|ZNF133_uc010gcr.2_Missense_Mutation_p.P68L|ZNF133_uc010zrx.1_5'UTR|ZNF133_uc002wql.4_Missense_Mutation_p.P68L|ZNF133_uc010gcs.3_Missense_Mutation_p.P68L|ZNF133_uc010zry.2_Intron|ZNF133_uc002wqm.2_Missense_Mutation_p.P68L	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	68	KRAB.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						AAATGTTCACCGGCAACCTGT	0.507000														81			11		0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127810999	127810999	+	Splice_Site	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:127810999T>C	uc002tns.2	-	14	1647	c.1263_splice	c.e14+1	p.E421_splice	BIN1_uc010yzf.2_Intron|BIN1_uc002tnt.2_Intron|BIN1_uc010yzg.2_Intron|BIN1_uc002tnu.2_Intron|BIN1_uc002tnv.2_Splice_Site_p.E378_splice|BIN1_uc002tnw.2_Intron|BIN1_uc002tnx.2_Intron|BIN1_uc002tny.2_Intron|BIN1_uc002tnz.2_Intron|BIN1_uc002toa.2_Intron|BIN1_uc002tob.2_Intron|BIN1_uc002toc.2_Intron	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	421	Clathrin-binding.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCAGCTTACCTCCCAGAGGTC	0.602000														31			25		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61766042	61766042	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:61766042A>G	uc003xue.3	+	30	7250	c.6758A>G	c.(6757-6759)gAg>gGg	p.E2253G	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2253	Glu-rich.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAGTCGGAAGAGTCTTCCCAG	0.557000														47			12		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96022395	96022395	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:96022395G>A	uc001kjk.3	+	13	4593	c.3959G>A	c.(3958-3960)gGc>gAc	p.G1320D	PLCE1_uc010qnx.2_Missense_Mutation_p.G1304D|PLCE1_uc001kjm.3_Missense_Mutation_p.G1012D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1320					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACATCTCTGGGCATTTTTGGG	0.473000														108			4		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108525	75108525	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75108525G>A	uc002ayt.1	+	1	205	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	LMAN1L_uc010bkd.2_5'UTR|LMAN1L_uc010ulo.1_5'UTR|LMAN1L_uc010bke.1_Missense_Mutation_p.R68Q	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	68	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGGAAGTGCGGCTGACGCCA	0.642000														32			3		0	0	1	0	0
MOB3C	148932	broad.mit.edu	37	1	47078805	47078805	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:47078805G>A	uc001cqe.4	-	1	402	c.345C>T	c.(343-345)caC>caT	p.H115H	MKNK1_uc010omf.1_Intron|MOB3C_uc001cqf.4_Silent_p.H63H	NM_145279	NP_958805	Q70IA8	MOL2C_HUMAN	Homo sapiens MOB kinase activator 3C (MOB3C), transcript variant 1, mRNA.	63							metal ion binding										AGTCCACCACGTGCACGGCGA	0.637000														52			3		0	0	1	0	0
C1orf114	57821	broad.mit.edu	37	1	169391220	169391220	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:169391220C>T	uc001gga.1	-	2	617	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	C1orf114_uc001gfz.1_Missense_Mutation_p.R150Q|C1orf114_uc009wvq.1_Missense_Mutation_p.R150Q|C1orf114_uc001ggb.3_Missense_Mutation_p.R150Q|C1orf114_uc001ggc.1_Missense_Mutation_p.R150Q	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	150										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					CTTAAGTTTTCGCTCCCTTTT	0.348000														41			22		0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42179650	42179650	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42179650G>A	uc003xow.2	+	17	2003	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_Missense_Mutation_p.R327Q|IKBKB_uc010lxj.2_Missense_Mutation_p.R383Q|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.R604Q|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.R547Q	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	606					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	AAGAAAGTGCGAGTGATCTAT	0.552000														57			4		0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8044491	8044491	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:8044491G>A	uc002gkd.3	-	22	4006	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	TRNA_Ser_uc021tps.1_5'Flank|TRNA_Thr_uc021tpt.1_5'Flank|PER1_uc010cns.3_Silent_p.G130G|PER1_uc010vuq.2_Non-coding_Transcript	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	1256	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTTGGCCCCGCCTTGGGCCT	0.637000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						12			33		0	0	1	0	0
OTOA	146183	broad.mit.edu	37	16	21734300	21734300	+	Splice_Site	SNP	G	A	A	rs148690740		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:21734300G>A	uc002djh.3	+	17	1881	c.1880_splice	c.e17+1	p.P627_splice	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Splice_Site_p.P548_splice|OTOA_uc002dji.3_Splice_Site_p.P303_splice|OTOA_uc010vbk.2_Splice_Site_p.P275_splice	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	641					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTGCACTCCCGTAAGTGAACA	0.478000														55			8		0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680473	4680473	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:4680473G>A	uc021wae.1	+	0	607	c.607G>A	c.(607-609)Gtt>Att	p.V203I	PRNP_uc002wkt.1_Missense_Mutation_p.V173I|PRNP_uc002wku.3_Missense_Mutation_p.V203I|PRNP_uc002wkv.3_Missense_Mutation_p.V203I|PRNP_uc002wkw.3_Missense_Mutation_p.V203I|PRNP_uc002wkx.3_Missense_Mutation_p.V203I|PRNP_uc002wky.3_Missense_Mutation_p.V203I|PRNP_uc010gbe.1_Missense_Mutation_p.V203I	NM_183079	NP_898902	P04156	PRIO_HUMAN	Homo sapiens prion protein (PRNP), transcript variant 2, mRNA.	203	Interaction with GRB2, ERI3 and SYN1 (By similarity).		V -> I (in CJD; it could be an extremely rare polymorphism).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress	Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.D202Y(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	CGAGACCGACGTTAAGATGAT	0.522000														105			26		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995547	144995547	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:144995547G>A	uc003zaf.1	-	31	9023	c.8853C>T	c.(8851-8853)ggC>ggT	p.G2951G	PLEC_uc003zab.1_Silent_p.G2814G|PLEC_uc003zac.1_Silent_p.G2818G|PLEC_uc003zad.2_Silent_p.G2814G|PLEC_uc003zae.1_Silent_p.G2782G|PLEC_uc003zag.1_Silent_p.G2792G|PLEC_uc003zah.2_Silent_p.G2800G|PLEC_uc003zaj.2_Silent_p.G2841G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2951	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGTCGATAACGCCGCCCGTGG	0.682000														19			6		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20067419	20067419	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:20067419G>A	uc001bcn.3	-	10	1135	c.893C>T	c.(892-894)cCg>cTg	p.P298L	TMCO4_uc001bco.1_Missense_Mutation_p.P298L|TMCO4_uc001bcp.1_Missense_Mutation_p.P258L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	298						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGCAGCCCACGGGGCACTGAA	0.617000														16			70		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20854663	20854663	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20854663C>A	uc001vxe.3	-	18	2844	c.2804G>T	c.(2803-2805)aGc>aTc	p.S935I	TEP1_uc010ahk.3_Missense_Mutation_p.S285I|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S827I	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	935					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCGTGAAGGCTGATACGGTG	0.637000														26			24		9.04412e-07	9.17939e-07	1	1	0
RIN1	9610	broad.mit.edu	37	11	66101541	66101541	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:66101541G>A	uc001ohn.1	-	6	1567	c.1440C>T	c.(1438-1440)ttC>ttT	p.F480F	RIN1_uc010roy.1_Intron|RIN1_uc009yrd.1_Silent_p.F173F|RIN1_uc010roz.1_Silent_p.F375F|RIN1_uc010rpa.1_Intron	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	480	Ras and 14-3-3 protein binding region.|VPS9.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGTGGGACCCGAAGGCTCCGG	0.731000														34			8		0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091740	29091740	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:29091740C>T	uc003adu.1	-	10	1289	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.R185H|CHEK2_uc010gvh.1_Missense_Mutation_p.R315H|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.R449H|CHEK2_uc003adv.1_Missense_Mutation_p.R377H|CHEK2_uc003adx.1_Missense_Mutation_p.R185H	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	406	Protein kinase.		R -> H (in dbSNP:rs299671).		DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GTCCACAGCACGGTTATACCC	0.443000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						95			98		0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10155570	10155570	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10155570C>T	uc021ogc.1	+	2	951	c.263C>T	c.(262-264)tCg>tTg	p.S88L	UBE4B_uc001aqs.4_Missense_Mutation_p.S88L|UBE4B_uc001aqr.4_Missense_Mutation_p.S88L|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_5'UTR	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	88					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCAGCAGCTCGCCCTCTAAT	0.468000														78			4		0	0	1	0	0
R3HCC1	203069	broad.mit.edu	37	8	23153579	23153579	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:23153579G>A	uc003xdf.3	+	7	1369	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	R3HCC1_uc011kzt.2_Missense_Mutation_p.R244Q|R3HCC1_uc003xdg.1_Non-coding_Transcript	NM_001136108	NP_001129580	Q9Y3T6	R3HC1_HUMAN	Homo sapiens R3H domain and coiled-coil containing 1 (R3HCC1), mRNA.	471							nucleic acid binding|nucleotide binding			central_nervous_system(1)|skin(2)	3						AAGAAAGAGCGGCCTGCTGTC	0.657000											OREG0018634	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			8		0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45567082	45567082	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:45567082C>T	uc010dnv.3	-	2	899	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	ZBTB7C_uc002ldb.3_Missense_Mutation_p.G133R|ZBTB7C_uc010dnu.3_Missense_Mutation_p.G142R|ZBTB7C_uc010dnw.3_Missense_Mutation_p.G133R|ZBTB7C_uc010dnx.1_Missense_Mutation_p.G133R|ZBTB7C_uc010dny.1_Missense_Mutation_p.G133R|ZBTB7C_uc010dnz.1_Missense_Mutation_p.G155R|ZBTB7C_uc010doi.1_Missense_Mutation_p.G133R|ZBTB7C_uc010doj.1_Missense_Mutation_p.G142R|ZBTB7C_uc010dok.1_Missense_Mutation_p.G182R|ZBTB7C_uc010dol.1_Missense_Mutation_p.G142R|ZBTB7C_uc010doa.1_Missense_Mutation_p.G155R|ZBTB7C_uc010dob.1_Missense_Mutation_p.G133R|ZBTB7C_uc010doc.1_Missense_Mutation_p.G142R|ZBTB7C_uc010dod.1_Missense_Mutation_p.G155R|ZBTB7C_uc010doe.1_Missense_Mutation_p.G133R|ZBTB7C_uc010dof.1_Missense_Mutation_p.G133R|ZBTB7C_uc010dog.1_Missense_Mutation_p.G133R|ZBTB7C_uc010doh.1_Missense_Mutation_p.G142R|ZBTB7C_uc010dom.1_Missense_Mutation_p.G142R|ZBTB7C_uc010don.1_Missense_Mutation_p.G141R|ZBTB7C_uc010dop.1_Missense_Mutation_p.G133R|ZBTB7C_uc010doq.1_Missense_Mutation_p.G142R|ZBTB7C_uc010dor.1_Missense_Mutation_p.G155R|ZBTB7C_uc010dos.1_Missense_Mutation_p.G133R|ZBTB7C_uc010dot.1_Missense_Mutation_p.G133R|ZBTB7C_uc010doo.1_Missense_Mutation_p.G133R|ZBTB7C_uc010dou.1_Missense_Mutation_p.G142R	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	133	Asp-rich.|Glu-rich.					intracellular	nucleic acid binding|zinc ion binding	p.E154K(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						tcctcccccccgtcccccCCA	0.582000														131			8		0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155144	12155144	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12155144C>T	uc021upl.1	-	3	1238	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	ZNF878_uc002mta.1_Missense_Mutation_p.E405K	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGTGTCCTTTCATGTATTCGA	0.388000														26			35		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739646	62739646	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:62739646A>T	uc001dah.4	-	2	1507	c.1130T>A	c.(1129-1131)aTc>aAc	p.I377N	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	377								p.E376K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTAGCTTTGATTTCCTCTTC	0.542000														22			103		0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31851930	31851930	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31851930C>T	uc003akz.2	-	7	1205	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	EIF4ENIF1_uc003akx.2_Missense_Mutation_p.R15Q|EIF4ENIF1_uc003aky.2_Missense_Mutation_p.R15Q|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.R336Q|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.R173Q	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	336						nucleus	protein binding|protein transporter activity	p.R336Q(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCTACTGAACCGACTGGCAGA	0.433000											OREG0003517	type=REGULATORY REGION|Gene=LOC486366|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		76			13		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30010880	30010880	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:30010880G>A	uc001zcr.3	-	20	3941	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	TJP1_uc010azl.3_Missense_Mutation_p.R1144W|TJP1_uc001zcq.3_Missense_Mutation_p.R1080W|TJP1_uc001zcs.3_Missense_Mutation_p.R1076W	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1156					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		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)		TCTTCGTGCCGCAGGGCGGAT	0.592000														91			24		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750096	140750096	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140750096G>A	uc003ljw.2	+	0	135	c.135G>A	c.(133-135)tcG>tcA	p.S45S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Silent_p.S45S	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	43	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGGGCTCGCTGGTAGGGA	0.552000														68			4		0	0	1	0	0
LOC100287718	100287718	broad.mit.edu	37	6	46726491	46726491	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:46726491G>A	uc011dwf.2	+	4	594	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_001162435	NP_001155907	B4E2M5	B4E2M5_HUMAN	Homo sapiens uncharacterized LOC100287718 (LOC100287718), mRNA.	168																	CCACCGTTGCGCTGCCCAGCA	0.557000														5			12		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91809065	91809065	+	Silent	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:91809065A>G	uc001doa.4	-	19	2356	c.2257T>C	c.(2257-2259)Tta>Cta	p.L753L	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Silent_p.L432L|HFM1_uc001dob.4_5'UTR|HFM1_uc010osv.1_Silent_p.L437L	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	753							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTCAAACATAATTCTGTTTAA	0.264000														155			39		0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44329698	44329698	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:44329698G>A	uc021yzz.1	+	4	644	c.543G>A	c.(541-543)acG>acA	p.T181T	TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Silent_p.T66T|SPATS1_uc003oxk.3_Silent_p.T181T	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	181										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGAGAGGACGGTGGACAAGT	0.498000														44			20		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36499408	36499408	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:36499408G>A	uc002hpz.3	-	0	286	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	89						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGAGCCCTGGCATGGCTCCT	0.627000														12			35		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173105	126173105	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:126173105G>T	uc003vlr.2	-	7	2642	c.2331C>A	c.(2329-2331)ttC>ttA	p.F777L	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.F777L|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	777					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGGCTTCATTGAAAGTCTCTG	0.413000										HNSCC(24;0.065)				102			82		2.01309e-51	2.09927e-51	1	1	0
ZBP1	81030	broad.mit.edu	37	20	56185305	56185305	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:56185305G>A	uc002xyo.3	-	6	1274	c.993C>T	c.(991-993)gaC>gaT	p.D331D	ZBP1_uc010gjm.3_Silent_p.D330D|ZBP1_uc002xyp.3_Silent_p.D256D	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	331						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding	p.D331D(2)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CGATGGTGGCGTCCTCGAGAA	0.597000														63			54		0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157910	65157910	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:65157910C>T	uc002anv.3	+	5	1430	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	PLEKHO2_uc002anw.3_Silent_p.G382G	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA.	432										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGGTGCTGGGCAGTGAGCCGG	0.612000														33			22		0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16345014	16345014	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:16345014G>A	uc002ndv.2	+	11	1387	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	AP1M1_uc002ndu.2_Missense_Mutation_p.R393H|AP1M1_uc010xpd.1_Missense_Mutation_p.R340H	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	393	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCCCAGGTGCGCTACCTGAAG	0.647000														37			17		0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185993360	185993360	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:185993360G>A	uc003fqa.3	-	9	1423	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	DGKG_uc003fqb.3_Missense_Mutation_p.R296C|DGKG_uc003fqc.3_Missense_Mutation_p.R296C|DGKG_uc011brx.2_Missense_Mutation_p.R296C	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	296					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.V295I(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCTTGCTTGCGGACGCCCATG	0.547000														7			15		0	0	1	0	0
KCNG3	170850	broad.mit.edu	37	2	42720408	42720408	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42720408G>A	uc002rsn.3	-	0	830	c.234C>T	c.(232-234)cgC>cgT	p.R78R	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.3_Silent_p.R78R	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 3 (KCNG3), transcript variant 1, mRNA.	78						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TGCCGTGGCCGCGCACGTAGA	0.647000														11			7		0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111416221	111416221	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:111416221A>G	uc002tgc.3	-	11	1487	c.1375T>C	c.(1375-1377)Tca>Cca	p.S459P	BUB1_uc010yxh.2_Missense_Mutation_p.S439P|BUB1_uc010fkb.3_Missense_Mutation_p.S459P	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	459	Essential for loading of BUBR1, MAD1L1 and MAD2L1 to kinetochores.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACGGTGGGTGATGGCTGCACT	0.433000														108			6		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100085892	100085892	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100085892G>A	uc003uvd.1	+	3	707	c.548G>A	c.(547-549)gGc>gAc	p.G183D	NYAP1_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	183																	TGCCCCCCAGGCCCCTCTCCT	0.657000														44			26		0	0	1	0	0
PRPF40B	25766	broad.mit.edu	37	12	50025707	50025707	+	Splice_Site	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:50025707C>T	uc001rur.1	+	3	291	c.228_splice	c.e3+1	p.A76_splice	PRPF40B_uc001rup.1_Splice_Site_p.A98_splice|PRPF40B_uc001ruq.1_Splice_Site_p.A70_splice|PRPF40B_uc001rus.1_Splice_Site_p.A19_splice	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	76					RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTCACCGCAGCGGTAAGCACT	0.542000														47			10		0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3807424	3807424	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:3807424G>A	uc001alf.3	-	2	434	c.327C>T	c.(325-327)ggC>ggT	p.G109G	C1orf174_uc009vls.3_Non-coding_Transcript	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	Homo sapiens chromosome 1 open reading frame 174 (C1orf174), mRNA.	109										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCACAGAAACGCCAGCCTCGC	0.542000														6			57		0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168210	69168210	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:69168210C>A	uc003dns.2	-	1	1505	c.1296G>T	c.(1294-1296)gaG>gaT	p.E432D	LMOD3_uc003dnt.2_Missense_Mutation_p.E432D	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	432						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTCCCAACAGCTCCCACATCC	0.542000														217			6		0.000157383	0.000158889	1	1	0
BNC2	54796	broad.mit.edu	37	9	16552695	16552695	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:16552695C>T	uc003zml.3	-	4	642	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	BNC2_uc011lmw.2_Missense_Mutation_p.V73M|BNC2_uc003zmm.3_Missense_Mutation_p.V126M|BNC2_uc003zmq.1_Missense_Mutation_p.V182M|BNC2_uc003zmr.1_Missense_Mutation_p.V205M|BNC2_uc003zmp.1_Missense_Mutation_p.V196M|BNC2_uc010mij.1_Missense_Mutation_p.V90M|BNC2_uc011lmv.2_5'UTR|BNC2_uc003zmo.1_Missense_Mutation_p.V90M	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.V167I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGTCAAACACGACGTTGGAC	0.562000														86			15		0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103431192	103431192	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:103431192C>T	uc004elw.3	+	3	930	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	FAM199X_uc004elx.3_Missense_Mutation_p.R24W	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.	207										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GATGGGTCTTCGGGAGCAACT	0.358000														136			8		0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109316565	109316565	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:109316565G>A	uc010sxh.1	-	11	1067	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	353						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						GCCTTCTTCCGACTGGAGACT	0.542000														30			9		0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54333126	54333126	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:54333126G>A	uc001sei.3	+	0	551	c.436G>A	c.(436-438)Gcc>Acc	p.A146T		NM_017410	NP_059106	P31276	HXC13_HUMAN	Homo sapiens homeobox C13 (HOXC13), mRNA.	146						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GAAGCCTTGCGCCTACCACCC	0.672000			T	NUP98	AML									28			7		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46308230	46308230	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:46308230G>A	uc002pdm.3	-	2	1104	c.933C>T	c.(931-933)ttC>ttT	p.F311F	RSPH6A_uc002pdl.3_Silent_p.F47F	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	311						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGGCCTGCTCGAAGTAGAAGG	0.617000														26			3		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763332	77763332	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:77763332G>A	uc003yau.2	+	9	4562	c.4175G>A	c.(4174-4176)cGt>cAt	p.R1392H	ZFHX4_uc003yaw.1_Missense_Mutation_p.R1347H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1347						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1392H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTTTCTGACCGTCATGTCTAC	0.418000										HNSCC(33;0.089)				174			4		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31609189	31609189	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:31609189G>A	uc001wrc.1	-	18	3377	c.2888C>T	c.(2887-2889)gCg>gTg	p.A963V	HECTD1_uc001wrd.1_Missense_Mutation_p.A478V	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	963					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	p.A963_V971delALIRKLIAV(2)		breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TCGAATTAACGCAACTGCTGG	0.338000														52			36		0	0	1	0	0
RHBDL1	9028	broad.mit.edu	37	16	727990	727990	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:727990G>A	uc002cis.1	+	6	1282	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	RHBDL1_uc002cir.1_Missense_Mutation_p.A354T|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.3_5'Flank|STUB1_uc002ciu.3_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	419					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCTGCTCTTCGCCGTCTTCTG	0.687000														55			18		0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55360358	55360358	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:55360358C>T	uc002ehy.3	+	1	689	c.156C>T	c.(154-156)taC>taT	p.Y52Y	IRX6_uc002ehx.3_Silent_p.Y52Y|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	52						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCGCACCCTACGATAGTCGAC	0.652000														56			21		0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58264681	58264681	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:58264681C>T	uc002qpx.3	+	2	406	c.183C>T	c.(181-183)gaC>gaT	p.D61D	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Silent_p.D61D	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGCAAAAGACGAGACACCTT	0.443000														100			7		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62291323	62291323	+	Silent	SNP	G	A	A	rs139320801		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:62291323G>A	uc002jed.3	-	1	406	c.255C>T	c.(253-255)ccC>ccT	p.P85P	TEX2_uc002jec.3_Silent_p.P85P|TEX2_uc002jee.3_Silent_p.P85P	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	85					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CAGGGCCGGCGGGGTCATGGC	0.577000														15			64		0	0	1	0	0
FAM110A	83541	broad.mit.edu	37	20	826273	826273	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:826273C>T	uc002wef.1	+	1	1162	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	FAM110A_uc002weg.1_Missense_Mutation_p.R276C|FAM110A_uc002weh.1_Missense_Mutation_p.R276C	NM_001042353	NP_997004	Q9BQ89	F110A_HUMAN	Homo sapiens family with sequence similarity 110, member A (FAM110A), transcript variant 3, mRNA.	276						microtubule organizing center|spindle pole	protein binding			breast(1)|lung(2)	3						GCGCAATGCCCGCGTGATCAA	0.657000														31			24		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62065203	62065203	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62065203C>T	uc002yey.1	-	7	1254	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	KCNQ2_uc002yez.1_Silent_p.T359T|KCNQ2_uc002yfa.1_Silent_p.T359T|KCNQ2_uc002yfb.1_Silent_p.T359T|KCNQ2_uc011aax.1_Silent_p.T359T|KCNQ2_uc002yfc.1_Silent_p.T359T	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	359					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGTACTGCCACGTGGAGTGCA	0.592000														42			15		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073709	135073709	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135073709G>A	uc004cbh.2	+	2	1346	c.570G>A	c.(568-570)gcG>gcA	p.A190A		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	190	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTCCAGCGCGCACCGCGTGC	0.677000														22			35		0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1175232	1175232	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:1175232G>A	uc009xhm.1	+	13	1609	c.1436G>A	c.(1435-1437)cGg>cAg	p.R479Q	WDR37_uc001igf.1_Missense_Mutation_p.R478Q|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	478										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GGGTTTGACCGGCAAGCCATT	0.502000														32			4		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101186203	101186203	+	Missense_Mutation	SNP	C	T	T	rs142501320		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:101186203C>T	uc001dti.3	+	1	457	c.236C>T	c.(235-237)aCg>aTg	p.T79M	VCAM1_uc010ouj.2_Intron|VCAM1_uc001dtj.3_Missense_Mutation_p.T79M	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	79	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ACCACATCTACGCTGACAATG	0.468000														29			99		0	0	1	0	0
C11orf71	54494	broad.mit.edu	37	11	114262382	114262382	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:114262382T>C	uc001pot.1	-	1	435	c.349A>G	c.(349-351)Acc>Gcc	p.T117A		NM_019021	NP_061894	Q6IPW1	CK071_HUMAN	Homo sapiens chromosome 11 open reading frame 71 (C11orf71), mRNA.	0										large_intestine(3)|lung(1)	4		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		agggtccaggtagtaactaaa	0.358000														202			5		0	0	1	0	0
UPP1	7378	broad.mit.edu	37	7	48134391	48134391	+	Missense_Mutation	SNP	C	T	T	rs11971829	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:48134391C>T	uc003toj.3	+	3	540	c.11C>T	c.(10-12)aCg>aTg	p.T4M	UPP1_uc003tok.3_Missense_Mutation_p.T4M|UPP1_uc003tol.3_Missense_Mutation_p.T4M|UPP1_uc011kcg.1_Missense_Mutation_p.T4M|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_5'UTR	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	4					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						ATGGCGGCCACGGGAGCCAAT	0.498000														162			5		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450720	155450720	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:155450720C>T	uc003qqb.3	+	5	1636	c.363C>T	c.(361-363)caC>caT	p.H121H	TIAM2_uc003qqe.3_Silent_p.H121H	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	121					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGTTGGCCACGAGCTGGCAG	0.562000														14			15		0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73744294	73744294	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:73744294C>T	uc004ebt.2	+	2	1064	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SLC16A2_uc010nlr.1_5'UTR	NM_006517	NP_006508	P36021	MOT8_HUMAN	Homo sapiens solute carrier family 16, member 2 (monocarboxylic acid transporter 8) (SLC16A2), mRNA.	226						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.R300C(2)|p.R300H(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CTACTTTCAACGCCGCCTGGG	0.547000														59			45		0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45396231	45396231	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:45396231G>A	uc001zun.3	-	19	2784	c.2581C>T	c.(2581-2583)Cgt>Tgt	p.R861C	DUOX2_uc010bea.3_Missense_Mutation_p.R861C	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	861	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AACATTAGACGGGACTTATCC	0.507000														135			6		0	0	1	0	0
KDELR3	11015	broad.mit.edu	37	22	38875685	38875685	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38875685C>T	uc003avu.3	+	2	436	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	KDELR3_uc003avv.3_Missense_Mutation_p.R94C	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	94					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGACACATTCCGCCTGGAGTT	0.443000														113			35		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136547323	136547323	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:136547323G>A	uc002tuu.1	-	15	5392	c.5381C>T	c.(5380-5382)gCg>gTg	p.A1794V		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1794	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.A1794A(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATTGTCCATCGCACTCCAAAC	0.483000														17			37		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79711796	79711796	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:79711796G>A	uc011dyp.2	-	16	1925	c.1699C>T	c.(1699-1701)Cgt>Tgt	p.R567C	PHIP_uc003pir.3_Missense_Mutation_p.R567C	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	567					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTGGCATCACGAATAAGTGGC	0.373000														22			12		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365622	46365622	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:46365622G>A	uc002xto.3	-	2	570	c.240C>T	c.(238-240)aaC>aaT	p.N80N	SULF2_uc002xtr.3_Silent_p.N80N|SULF2_uc002xtq.3_Silent_p.N80N|SULF2_uc010ghv.1_Silent_p.N80N	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	80					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCACGAAGGCGTTGATGAAGT	0.582000														59			85		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6078503	6078503	+	Nonsense_Mutation	SNP	G	A	A	rs61751296		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6078503G>A	uc001qnn.1	-	44	7853	c.7603C>T	c.(7603-7605)Cga>Tga	p.R2535*	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2535					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCTTCACTCGGACACACTCA	0.607000														61			60		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110709687	110709687	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:110709687G>A	uc009wfq.3	+	1	597	c.136G>A	c.(136-138)Ggc>Agc	p.G46S		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	46					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGAGGCAGGCGGCAAGCAGAA	0.612000														8			57		0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50005642	50005642	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:50005642C>T	uc003cyc.3	+	2	1032	c.784C>T	c.(784-786)Cga>Tga	p.R262*	RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	262					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGGTAGACACCGATCTAGGAC	0.448000														46			32		0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84778426	84778426	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:84778426C>T	uc010voe.2	+	4	602	c.351C>T	c.(349-351)atC>atT	p.I117I	USP10_uc002fii.3_Silent_p.I113I|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	113					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						ATGGCTCCATCGACTGCCAGT	0.488000														16			39		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119968788	119968788	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:119968788C>T	uc001txe.3	+	12	1936	c.1471C>T	c.(1471-1473)Cga>Tga	p.R491*	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	491								p.R491Q(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTTGCGGATTCGACCCCATGT	0.522000														62			4		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8507359	8507359	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:8507359C>T	uc003zkk.3	-	21	2362	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	PTPRD_uc003zkp.3_Missense_Mutation_p.R540H|PTPRD_uc003zkq.3_Missense_Mutation_p.R540H|PTPRD_uc003zkr.3_Missense_Mutation_p.R534H|PTPRD_uc003zks.3_Missense_Mutation_p.R530H|PTPRD_uc022bdj.1_Missense_Mutation_p.R537H	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	540	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTATCTGAACGTGGAGGTGT	0.448000										TSP Lung(15;0.13)				130			4		0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100484814	100484814	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100484814C>T	uc003uwy.2	+	14	2235	c.1968C>T	c.(1966-1968)caC>caT	p.H656H	SRRT_uc010lhl.1_Silent_p.H655H|SRRT_uc003uxa.2_Silent_p.H655H|SRRT_uc003uwz.2_Silent_p.H656H	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	656					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GCATCAGTCACGGGGAAGGTG	0.607000														42			12		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239898	5239898	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:5239898T>C	uc003jdl.3	+	15	2521	c.2383T>C	c.(2383-2385)Tac>Cac	p.Y795H	ADAMTS16_uc003jdk.1_Missense_Mutation_p.Y795H	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	795	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCTCAGAAGGTACTACCTGAA	0.512000														89			8		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9802030	9802030	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:9802030C>T	uc001mib.2	-	39	5623	c.5485G>A	c.(5485-5487)Gcc>Acc	p.A1829T	LOC283104_uc001mhz.1_Intron|SBF2_uc001mid.2_Missense_Mutation_p.A473T|SBF2_uc001mic.2_Missense_Mutation_p.A119T|BC073899_uc001mie.3_Non-coding_Transcript	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1829	PH.				myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.A1829T(2)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCATCCTGGGCGCAGAAGTTA	0.488000														50			15		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149483252	149483252	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:149483252G>A	uc010lpk.3	+	22	3320	c.3320G>A	c.(3319-3321)cGt>cAt	p.R1107H	SSPO_uc010lpl.1_Missense_Mutation_p.R357H	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1107	VWFD 3.				cell adhesion	extracellular space	peptidase inhibitor activity	p.R357L(1)				Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCCTGCGTCGTGCTGGCCTC	0.652000														31			8		0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50475120	50475120	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50475120C>T	uc010ybk.1	+	2	151	c.45C>T	c.(43-45)aaC>aaT	p.N15N	SIGLEC16_uc002prf.3_Intron					Homo sapiens cDNA FLJ50062 complete cds, highly similar to Sialic acid-binding Ig-like lectin 11 precursor.											endometrium(2)|kidney(2)|lung(6)	10						ACCTGAGGAACGGCACATCCC	0.652000														45			11		0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	420958	420958	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:420958G>A	uc002wds.3	-	5	840	c.702C>T	c.(700-702)caC>caT	p.H234H	TBC1D20_uc002wdt.3_Non-coding_Transcript|TBC1D20_uc002wdv.3_Silent_p.H57H	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	Homo sapiens TBC1 domain family, member 20 (TBC1D20), mRNA.	234	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				ACCGCACGACGTGCCTGAAGT	0.552000														42			37		0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104391269	104391269	+	Silent	SNP	G	A	A	rs142096211	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:104391269G>A	uc001tkh.1	-	6	1004	c.447C>T	c.(445-447)caC>caT	p.H149H	GLT8D2_uc001tki.1_Silent_p.H149H	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	149						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGACTTTCTCGTGTTGGTGGA	0.403000														38			12		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101716912	101716912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:101716912G>A	uc001kqj.2	-	3	411	c.319C>T	c.(319-321)Cga>Tga	p.R107*	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	107	SH3 2.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding	p.R107Q(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CAGCAGCTTCGGCCCTGCAGC	0.602000														5			3		0	0	1	0	0
R3HDM2	22864	broad.mit.edu	37	12	57693939	57693939	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:57693939C>T	uc009zpm.1	-	2	268	c.233G>A	c.(232-234)cGt>cAt	p.R78H	R3HDM2_uc001sns.2_Missense_Mutation_p.R78H|R3HDM2_uc001snt.2_Missense_Mutation_p.R78H	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	78						nucleus	nucleic acid binding	p.A77S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGCCAGGCTACGCACCAACTT	0.403000														59			31		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109766433	109766433	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:109766433C>T	uc011eaq.2	-	21	3196	c.2905G>A	c.(2905-2907)Gtg>Atg	p.V969M	MICAL1_uc003ptj.3_Missense_Mutation_p.V950M|MICAL1_uc003ptk.3_Missense_Mutation_p.V950M|MICAL1_uc010kdr.3_Missense_Mutation_p.V864M	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	950					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCCAGCTTCACGCCCTCGGCC	0.572000														6			30		0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95541376	95541376	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:95541376G>A	uc003ygo.2	-	6	873	c.802C>T	c.(802-804)Cga>Tga	p.R268*	KIAA1429_uc003ygp.3_Nonsense_Mutation_p.R268*|KIAA1429_uc010maz.2_5'Flank	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	268	Glu-rich.				RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACTGTTCGTCGATCATCCTCA	0.438000														97			23		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7521290	7521290	+	Splice_Site	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7521290G>A	uc002mgi.3	+	8	1870	c.1617_splice	c.e8+1	p.V539_splice	ARHGEF18_uc010xjm.1_Splice_Site_p.V381_splice|ARHGEF18_uc002mgh.3_Splice_Site_p.V381_splice|ARHGEF18_uc002mgj.1_Splice_Site_p.V182_splice	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	539	PH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TGCTTCTGTGGTATGTATCCT	0.502000														106			35		0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93277911	93277911	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:93277911C>T	uc001yaz.1	+	5	1314	c.1132C>T	c.(1132-1134)Cgc>Tgc	p.R378C		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	378					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GTTTGCTGCACGCCTTAATAA	0.358000			T	RET	papillary thyroid									119			86		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2191375	2191375	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:2191375C>T	uc003zhc.3	+	32	4803	c.4704C>T	c.(4702-4704)agC>agT	p.S1568S	SMARCA2_uc003zhd.3_Silent_p.S1550S|SMARCA2_uc010mha.3_Silent_p.S1483S|SMARCA2_uc011llw.2_Silent_p.S254S|SMARCA2_uc011llx.2_Silent_p.S214S|SMARCA2_uc003zhe.3_Silent_p.S256S|SMARCA2_uc010mhb.3_Silent_p.S238S	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1568					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTGTAGTGAGCGATTTTGACA	0.493000														142			5		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139908708	139908708	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139908708G>A	uc004ckm.1	-	26	4289	c.4239C>T	c.(4237-4239)ggC>ggT	p.G1413G	ABCA2_uc022bpy.1_Silent_p.G1314G|ABCA2_uc022bpz.1_Silent_p.G1384G|ABCA2_uc011mem.1_Silent_p.G1383G|ABCA2_uc004ckl.1_Silent_p.G1314G|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1383					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CTCCCTCGTCGCCACGGGCAG	0.652000														23			11		0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97607247	97607247	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:97607247G>A	uc003drx.3	+	5	1572	c.1508G>A	c.(1507-1509)gGg>gAg	p.G503E	CRYBG3_uc021xbn.1_Missense_Mutation_p.G503E					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GAAGACCATGGGCTCTTTGAG	0.343000														173			36		0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61081572	61081572	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61081572C>T	uc001nrc.4	-	13	1926	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.R567H	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	567	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTTCAAGATACGAGCCGAGAT	0.507000								Nucleotide excision repair (NER)						80			29		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117150686	117150686	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:117150686C>T	uc001egq.1	-	4	1805	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	IGSF3_uc001egr.1_Missense_Mutation_p.R367H|IGSF3_uc001egs.1_Missense_Mutation_p.R40H	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	367	Ig-like C2-type 3.					integral to membrane		p.L366L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATCTTCCTGGCGGAGGTGGTA	0.537000														17			56		0	0	1	0	0
WTIP	126374	broad.mit.edu	37	19	34984440	34984440	+	Missense_Mutation	SNP	G	A	A	rs76091454	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:34984440G>A	uc002nvm.3	+	4	944	c.944G>A	c.(943-945)cGg>cAg	p.R315Q		NM_001080436	NP_001073905			Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA.											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGCTGCTTCCGGTGCTCCGTG	0.642000														46			27		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81620513	81620513	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:81620513C>T	uc003uhr.1	-	20	2040	c.1784G>A	c.(1783-1785)gGc>gAc	p.G595D		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	614						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTAATCTGTGCCATTGACAGG	0.303000														41			32		0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100177455	100177455	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:100177455G>A	uc021pwv.1	-	19	2215	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	PYROXD2_uc001kpc.3_5'Flank|PYROXD2_uc010qpe.2_5'Flank	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	657					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.R657C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCGGTTGGGCGGTTCTTGCTG	0.662000									Hermansky-Pudlak syndrome					47			3		0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38345215	38345215	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38345215C>T	uc010cwu.1	+	4	803	c.313C>T	c.(313-315)Cgg>Tgg	p.R105W	RAPGEFL1_uc010wfd.1_Missense_Mutation_p.R41W	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	311	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGTGGCCTTCCGGGGCTCTGA	0.612000														1			21		0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839716	19839716	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:19839716G>A	uc002zqg.3	-	1	668	c.69C>T	c.(67-69)aaC>aaT	p.N23N	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Silent_p.N23N|C22orf29_uc002zqi.3_Silent_p.N23N|C22orf29_uc021wli.1_Silent_p.N23N	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	23										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					ATGGATGTGCGTTGGCATAAT	0.642000														92			24		0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8607769	8607769	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:8607769C>T	uc003glm.3	+	4	937	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R244W|CPZ_uc003gln.3_Missense_Mutation_p.R118W	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	255					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGTGGCGGGCCGGGAGATGCT	0.602000														44			12		0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74157965	74157965	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:74157965G>A	uc002jqz.3	-	9	980	c.911C>T	c.(910-912)aCg>aTg	p.T304M	RNF157_uc002jra.3_Missense_Mutation_p.T304M	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	304							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GTAGCGCAGCGTGTCTGCACA	0.602000														16			27		0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57267640	57267640	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:57267640G>A	uc003hbr.3	-	6	901	c.742C>T	c.(742-744)Cgt>Tgt	p.R248C		NM_002703	NP_002694	Q06203	PUR1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.	248	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	AAGACTTCACGGTAATATCTT	0.348000														91			6		0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150259023	150259023	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150259023G>A	uc001euj.3	+	4	1264	c.815G>A	c.(814-816)aGc>aAc	p.S272N	C1orf51_uc001euh.3_Missense_Mutation_p.S272N|C1orf51_uc001eui.3_Missense_Mutation_p.S184N	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	272										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCCTCTCAGCTCCCCAGGT	0.527000														26			22		0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949033	27949033	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:27949033G>T	uc003zqv.1	-	6	2287	c.1637C>A	c.(1636-1638)gCt>gAt	p.A546D	LINGO2_uc010mjf.1_Missense_Mutation_p.A546D|LINGO2_uc003zqu.1_Missense_Mutation_p.A546D|LINGO2_uc022bfc.1_Missense_Mutation_p.A546D	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	546						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCAGCCCATAGCTGTAGACAC	0.448000														140			26		5.61819e-17	5.82037e-17	1	1	0
ALPK2	115701	broad.mit.edu	37	18	56191246	56191246	+	Silent	SNP	C	T	T	rs145864025	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:56191246C>T	uc002lhj.4	-	6	5764	c.5550G>A	c.(5548-5550)ccG>ccA	p.P1850P		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1850	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTGGTCCTTCGGACTGGCTT	0.448000														130			4		0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42990181	42990181	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42990181A>G	uc002rss.3	-	0	1221	c.1139T>C	c.(1138-1140)gTg>gCg	p.V380A		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	380					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CTCGTCGCTCACTGGGCCCTG	0.662000														36			14		0	0	1	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183256	200183256	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:200183256C>T	uc009wzi.1	+	0	601	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	189					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						GCTGTGCCTCCGCTTCCAGGC	0.667000														88			4		0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42296994	42296994	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:42296994G>A	uc003xpe.3	-	6	1277	c.908C>T	c.(907-909)gCg>gTg	p.A303V	SLC20A2_uc010lxl.3_Missense_Mutation_p.A303V|SLC20A2_uc010lxm.3_Missense_Mutation_p.A303V|SLC20A2_uc011lcu.2_Missense_Mutation_p.A105V	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	303					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.A303A(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GTGGCTGCCCGCAGAAGTGCC	0.607000														40			26		0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10246467	10246467	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10246467T>C	uc002mng.3	-	37	4850	c.4670A>G	c.(4669-4671)cAg>cGg	p.Q1557R	DNMT1_uc002mnf.3_Missense_Mutation_p.Q481R|DNMT1_uc010xlc.2_Missense_Mutation_p.Q1573R|DNMT1_uc002mnh.3_Missense_Mutation_p.Q1452R|DNMT1_uc010xld.2_Missense_Mutation_p.Q1560R	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1557	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGGGAAGCCCTGGGAGCGGGC	0.697000														48			6		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691990	77691990	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:77691990G>A	uc011cbx.2	+	9	6514	c.5561G>A	c.(5560-5562)cGt>cAt	p.R1854H	SHROOM3_uc003hkg.3_Missense_Mutation_p.R1632H	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1854	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTCTCGGGGCGTCTAGCCCGT	0.517000														47			68		0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82366931	82366931	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:82366931C>T	uc003hmi.1	-	6	935	c.791G>A	c.(790-792)cGc>cAc	p.R264H	RASGEF1B_uc003hmj.1_Missense_Mutation_p.R263H|RASGEF1B_uc010ijq.1_Missense_Mutation_p.R222H	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	264	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTAGCTGAGGCGATTAAACCA	0.353000														66			20		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7505040	7505040	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7505040C>T	uc002mgi.3	+	0	467	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	ARHGEF18_uc010xjm.1_Intron|ARHGEF18_uc002mgh.3_Intron	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	72					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R72C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCTCCCCGGCCGCCCCGAGCT	0.662000														47			14		0	0	1	0	0
RARA	5914	broad.mit.edu	37	17	38512460	38512460	+	Silent	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:38512460G>T	uc021txb.1	+	7	1733	c.1371G>T	c.(1369-1371)ccG>ccT	p.P457P	RARA_uc002huk.2_Silent_p.P457P|RARA_uc002hul.4_Silent_p.P457P|RARA_uc010wfe.2_Silent_p.P360P|RARA_uc002hun.2_Silent_p.P452P	NM_001145301	NP_001138773	P10276	RARA_HUMAN	Homo sapiens retinoic acid receptor, alpha (RARA), transcript variant 3, mRNA.	457					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 T-helper 2 cell differentiation|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 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			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAAGCAGCCCGGCCACCCACT	0.731000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL									11			8		5.68852e-11	5.82966e-11	1	1	0
ZNF879	345462	broad.mit.edu	37	5	178454554	178454554	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:178454554G>A	uc003mjt.4	+	2	279	c.114G>A	c.(112-114)ttG>ttA	p.L38L		NM_001136116	NP_001129588	B4DU55	ZN879_HUMAN	Homo sapiens zinc finger protein 879 (ZNF879), mRNA.	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						AGAGAGCCTTGTACCGGGAGG	0.567000														88			29		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16976291	16976291	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:16976291G>A	uc002ney.2	+	11	1573	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	SIN3B_uc002nez.2_Missense_Mutation_p.R485Q|SIN3B_uc010xpi.1_Missense_Mutation_p.R75Q	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	517	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGCTATCTCGGATGGCGCCG	0.582000														67			18		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5827148	5827148	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:5827148G>A	uc010ndi.3	-	4	1333	c.869C>T	c.(868-870)tCg>tTg	p.S290L	NLGN4X_uc004crp.3_Missense_Mutation_p.S273L|NLGN4X_uc010ndh.3_Missense_Mutation_p.S253L|NLGN4X_uc004crq.3_Missense_Mutation_p.S253L|NLGN4X_uc004crr.3_Missense_Mutation_p.S253L|NLGN4X_uc010ndj.3_Missense_Mutation_p.S253L	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	253					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CCCAGCCCCCGAGCCAAAGAT	0.587000														16			122		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54214609	54214609	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:54214609G>A	uc003pcj.2	+	6	1141	c.995G>A	c.(994-996)cGg>cAg	p.R332Q	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	332					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R332W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CGAGGAAAACGGCATGCCACG	0.463000														61			9		0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123346348	123346348	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:123346348C>T	uc003vkz.3	-	3	747	c.419G>A	c.(418-420)cGt>cAt	p.R140H		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	140	WH1.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTTTGTCGACGGCCCAAAAG	0.363000														46			18		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55690630	55690630	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:55690630G>A	uc021tio.1	+	0	75	c.24G>A	c.(22-24)ccG>ccA	p.P8P	SLC6A2_uc002eif.3_Silent_p.P8P|SLC6A2_uc002eig.3_Silent_p.P8P	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	8					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GGATGAACCCGCAGGTGCAGC	0.652000														20			17		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31090347	31090347	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:31090347G>A	uc002eap.3	+	1	2991	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	ZNF646_uc021tgu.1_Missense_Mutation_p.R901H	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	901					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTTCACCGGCGCCAGGCCCAC	0.652000														17			30		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112902857	112902857	+	Missense_Mutation	SNP	G	A	A	rs149048625		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:112902857G>A	uc003kqn.3	+	21	3113	c.2911G>A	c.(2911-2913)Gtt>Att	p.V971I		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	971							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGGGCTGTCGTTAAAGCTGC	0.443000														90			99		0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525053	42525053	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42525053C>T	uc003bce.3	-	2	577	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Intron|CYP2D6_uc003bcf.3_Intron	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	163							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.L162P(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGGCGAAGGCGGCACAAAGG	0.667000														62			15		0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124172505	124172505	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:124172505C>T	uc001lge.2	+	5	661	c.412C>T	c.(412-414)Caa>Taa	p.Q138*	PLEKHA1_uc001lgf.2_Nonsense_Mutation_p.Q138*|PLEKHA1_uc001lgg.2_Nonsense_Mutation_p.Q138*	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	138					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGAAAAAGCAAGTGTCTTA	0.383000														13			23		0	0	1	0	0
UAP1L1	91373	broad.mit.edu	37	9	139973538	139973538	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139973538C>T	uc010ncb.3	+	3	813	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	UAP1L1_uc004cla.4_Missense_Mutation_p.R138W	NM_207309	NP_997192	Q3KQV9	UAP1L_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 (UAP1L1), mRNA.	261							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CATCCTGGTGCGGCTGGCGGA	0.657000														64			5		0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569287	130569287	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:130569287G>A	uc004bsg.1	+	4	472	c.422G>A	c.(421-423)cGc>cAc	p.R141H	FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Missense_Mutation_p.R141H|FPGS_uc004bsi.1_Missense_Mutation_p.R91H	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	141					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GAGCGGATCCGCATCAATGGG	0.652000														42			9		0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31899552	31899552	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:31899552C>T	uc021okm.1	+	6	962	c.689C>T	c.(688-690)gCg>gTg	p.A230V	SERINC2_uc010ogg.2_Missense_Mutation_p.A225V|SERINC2_uc001bst.3_Missense_Mutation_p.A221V|SERINC2_uc001bsu.3_Missense_Mutation_p.A166V|SERINC2_uc010ogh.2_Missense_Mutation_p.A225V	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	221						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GCGGCCGTGGCGCTGATGTTC	0.597000														56			98		0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105215188	105215188	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:105215188C>T	uc001kxe.2	-	1	1012	c.872G>A	c.(871-873)cGt>cAt	p.R291H	CALHM2_uc001kxd.1_5'Flank	NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	291						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CGTGATGCCACGCAGCTTCTC	0.667000														18			27		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793281	17793281	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:17793281C>T	uc009yhc.1	+	1	695	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	KCNC1_uc001mnk.4_Missense_Mutation_p.R214C	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GACCCACGAGCGCTTCAACCC	0.567000														31			52		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111368531	111368531	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:111368531C>T	uc003vfy.3	-	53	6104	c.5835G>A	c.(5833-5835)ccG>ccA	p.P1945P	DOCK4_uc011kml.2_Silent_p.P781P|DOCK4_uc011kmm.2_Silent_p.P769P|DOCK4_uc003vfw.3_Silent_p.P1312P|DOCK4_uc003vfx.3_Silent_p.P1900P|DOCK4_uc003vfv.3_Silent_p.P213P	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1900	Pro-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTACGGGGGCGGAGTCTTGC	0.711000														18			10		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32222290	32222290	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:32222290C>T	uc001btn.3	-	3	502	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	BAI2_uc010ogp.2_Missense_Mutation_p.G38R|BAI2_uc010ogq.2_Missense_Mutation_p.G50R|BAI2_uc001bto.3_Missense_Mutation_p.G50R|BAI2_uc001btq.1_Missense_Mutation_p.G38R|BAI2_uc010ogr.1_Missense_Mutation_p.G38R	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	50					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGAAGGCCCCGTAGAGCACA	0.652000														158			4		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51117231	51117231	+	Silent	SNP	C	T	T	rs79762996	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:51117231C>T	uc003bne.1	+	4	483	c.483C>T	c.(481-483)aaC>aaT	p.N161N		NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	161										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGCTGGACAACGCCACGGACC	0.652000														62			11		0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57765510	57765510	+	Silent	SNP	T	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57765510T>G	uc010ygt.2	+	3	1530	c.1323T>G	c.(1321-1323)acT>acG	p.T441T	ZNF805_uc010ygu.2_Silent_p.T308T|ZNF805_uc021vcj.1_Silent_p.T308T	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN	Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTGCTCTACTTTCATCTTGC	0.498000														34			10		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8209801	8209801	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8209801G>A	uc002mjf.3	-	4	518	c.501C>T	c.(499-501)tgC>tgT	p.C167C		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	167	EGF-like 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACACACAGGCGCAGCGGTTGG	0.622000														42			3		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72324139	72324139	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:72324139C>T	uc001jrd.4	+	18	2563	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V	KIAA1274_uc001jre.4_Missense_Mutation_p.A52V	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	761										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GCGAAAGAGGCGCAAGAAATG	0.617000														13			26		0	0	1	0	0
PLIN2	123	broad.mit.edu	37	9	19121114	19121114	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:19121114G>A	uc003zno.3	-	4	569	c.359C>T	c.(358-360)aCg>aTg	p.T120M	PLIN2_uc011lna.2_Missense_Mutation_p.T92M|PLIN2_uc011lnb.2_Missense_Mutation_p.T120M	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	120					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CACAGTAGTCGTCACAGCATC	0.532000														82			5		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072519	17072519	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:17072519C>T	uc002zlp.1	-	0	1182	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	308					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity	p.D308E(1)|p.A307V(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCATACTTGTCCGCCAGTGTG	0.532000														85			61		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14620499	14620499	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:14620499G>A	uc003ssz.3	-	17	1787	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	DGKB_uc011jxt.2_Nonsense_Mutation_p.R515*|DGKB_uc003sta.3_Nonsense_Mutation_p.R534*|DGKB_uc011jxu.2_Nonsense_Mutation_p.R533*	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	534	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CCTCCCCATCGCAGGCATCTT	0.428000														75			48		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131329101	131329101	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131329101C>T	uc004bvl.4	+	1	224	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	SPTAN1_uc011mbg.2_Missense_Mutation_p.R28C|SPTAN1_uc011mbh.2_Missense_Mutation_p.R40C|SPTAN1_uc004bvm.4_Missense_Mutation_p.R28C|SPTAN1_uc004bvn.4_Missense_Mutation_p.R28C	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	28					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCGATACCACCGCTTCAAGGA	0.488000														35			41		0	0	1	0	0
THOC1	9984	broad.mit.edu	37	18	216576	216576	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:216576G>A	uc002kkj.4	-	18	1552	c.1512C>T	c.(1510-1512)agC>agT	p.S504S	THOC1_uc002kkh.4_Silent_p.S128S	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	504					RNA splicing|apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|signal transduction|transcription, DNA-dependent	THO complex part of transcription export complex|cytoplasm|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				AGAAGTGAGGGCTTCTCCGTG	0.393000														110			10		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11400665	11400665	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:11400665C>T	uc001mjo.2	-	3	1163	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	248	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		TCAAAGAGTGCCACCACAGGG	0.607000														24			11		0	0	1	0	0
SNRPB	6628	broad.mit.edu	37	20	2442418	2442418	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2442418C>T	uc002wfz.1	-	6	870	c.707G>A	c.(706-708)cGc>cAc	p.R236H	SNRPB_uc002wga.1_3'UTR|SNRPB_uc010zpv.2_3'UTR|SNRPB_uc002wgb.3_3'UTR	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	236	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding	p.R236H(2)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTTGGTGGGCGCATTCCCGG	0.542000														29			12		0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746758	145746758	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145746758G>A	uc003zdk.2	+	3	1552	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	LRRC14_uc003zdl.2_Missense_Mutation_p.V460I	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	460										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTTTGCCCGCGTAGAAGCTGA	0.627000														26			34		0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76506753	76506753	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:76506753C>T	uc021qno.1	+	0	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F	TSKU_uc001oxt.3_Silent_p.F31F	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	31	LRRNT.					extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TGGAGACCTTCGGCCTTTTCG	0.672000														16			34		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159898623	159898623	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:159898623C>T	uc001fur.2	-	18	2753	c.2555G>A	c.(2554-2556)cGc>cAc	p.R852H	IGSF9_uc001fuq.2_Missense_Mutation_p.R836H|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	852	Pro-rich.					cell junction|integral to membrane|synapse		p.G851D(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACAAAGCGCCCGTCTGG	0.692000														19			18		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53615355	53615355	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:53615355G>A	uc004dsp.3	-	36	5003	c.4601C>T	c.(4600-4602)aCg>aTg	p.T1534M	HUWE1_uc004dsn.3_Missense_Mutation_p.T359M	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1534					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAAAAGTAGCGTTAAAAGCAA	0.403000														46			4		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44641958	44641958	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:44641958G>A	uc002xqz.3	+	8	1414	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	465					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGGCTCCCCCGACGGTCTGCC	0.687000											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			8		0	0	1	0	0
SRGAP2B	647135	broad.mit.edu	37	1	144014069	144014069	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:144014069G>A	uc010oxm.1	+	1	730	c.236G>A	c.(235-237)tGc>tAc	p.C79Y						Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2 (SRGAP2P2), non-coding RNA.																		GCCAAGACATGCAGCACCAAG	0.557000														41			5		0	0	1	0	0
GDF11	10220	broad.mit.edu	37	12	56142583	56142583	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56142583G>A	uc001shq.3	+	1	696	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_005811	NP_005802	O95390	GDF11_HUMAN	Homo sapiens growth differentiation factor 11 (GDF11), mRNA.	220					growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGTCACATCCGTATCCGCTCA	0.612000														11			12		0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49059935	49059935	+	Silent	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49059935C>A	uc003cvq.3	+	1	738	c.234C>A	c.(232-234)ccC>ccA	p.P78P	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|MIR425_uc011bcb.1_5'Flank|NDUFAF3_uc003cvn.3_Silent_p.P21P|MIR191_uc003cvo.1_5'Flank|NDUFAF3_uc003cvp.3_Silent_p.P21P|NDUFAF3_uc003cvr.3_Silent_p.P21P	NM_199069	NP_951056	Q9BU61	NDUF3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 (NDUFAF3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCTCGGCCCCTGCGCTCTGC	0.632000														57			39		4.44712e-29	4.62228e-29	1	1	0
NFIX	4784	broad.mit.edu	37	19	13183866	13183866	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13183866G>A	uc010xmx.2	+	2	642	c.589G>A	c.(589-591)Gga>Aga	p.G197R	NFIX_uc002mwd.3_Missense_Mutation_p.G189R|NFIX_uc002mwe.3_Missense_Mutation_p.G181R|NFIX_uc002mwf.3_Missense_Mutation_p.G192R|NFIX_uc002mwg.2_Missense_Mutation_p.G188R			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	189					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TGCAGAATCCGGACAATCAGA	0.557000														64			18		0	0	1	0	0
RPL8	6132	broad.mit.edu	37	8	146015277	146015277	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:146015277G>A	uc003zeb.3	-	5	797	c.686C>T	c.(685-687)gCc>gTc	p.A229V	RPL8_uc003zec.3_Missense_Mutation_p.A229V	NM_033301	NP_150644	P62917	RL8_HUMAN	Homo sapiens ribosomal protein L8 (RPL8), transcript variant 2, mRNA.	229					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		GCCAGCAGGGGCATCTCTGCG	0.592000														42			18		0	0	1	0	0
GUCA2B	2981	broad.mit.edu	37	1	42620453	42620453	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:42620453G>A	uc001chc.1	+	1	223	c.193G>A	c.(193-195)Gcc>Acc	p.A65T		NM_007102	NP_009033	Q16661	GUC2B_HUMAN	Homo sapiens guanylate cyclase activator 2B (uroguanylin) (GUCA2B), mRNA.	65					excretion	extracellular region	calcium sensitive guanylate cyclase activator activity			breast(1)|large_intestine(2)	3	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTCCTGCCCGCCGTGTGCCA	0.657000														12			74		0	0	1	0	0
NKAIN4	128414	broad.mit.edu	37	20	61878938	61878938	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61878938G>A	uc002yek.3	-	3	553	c.463C>T	c.(463-465)Ctg>Ttg	p.L155L	NKAIN4_uc010gkd.1_Silent_p.L93L	NM_152864	NP_690603	Q8IVV8	NKAI4_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 4 (NKAIN4), mRNA.	155						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					ACCGCGATCAGGATCTGCAGG	0.701000														141			5		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155487066	155487066	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155487066G>A	uc003ioa.4	+	1	260	c.221G>A	c.(220-222)cGt>cAt	p.R74H	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	74			Missing (in New York-1).|R -> C (in Nijmegen).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATCGGGCTCGTCCAGCCAAA	0.587000														61			32		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655393	138655393	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:138655393G>A	uc003qhu.3	+	32	5581	c.5410G>A	c.(5410-5412)Gcc>Acc	p.A1804T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1804					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGGGGGCGCCGCCAACCTCTA	0.557000														12			20		0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60791451	60791451	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:60791451G>A	uc002yci.3	-	2	1246	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	HRH3_uc002ycf.2_Missense_Mutation_p.P317S|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	317					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	AGTGAGCGCGGCCTCTCAGTG	0.706000														19			24		0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154209571	154209571	+	Missense_Mutation	SNP	C	T	T	rs147740832		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:154209571C>T	uc001fep.4	+	7	829	c.662C>T	c.(661-663)aCg>aTg	p.T221M	UBAP2L_uc009wot.3_Missense_Mutation_p.T221M|UBAP2L_uc010pek.2_Missense_Mutation_p.T213M|UBAP2L_uc010pel.2_Missense_Mutation_p.T231M|UBAP2L_uc010pen.2_Missense_Mutation_p.T135M	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	221					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCGGCAATACGTGGAACAAC	0.408000														127			4		0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43613077	43613077	+	Silent	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:43613077A>G	uc003joe.3	+	2	474	c.219A>G	c.(217-219)gcA>gcG	p.A73A	NNT_uc003jof.3_Silent_p.A73A	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	73					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	AGCGAGTGGCATTGTCTCCTG	0.423000														90			29		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21097515	21097515	+	Silent	SNP	G	A	A	rs140245727	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:21097515G>A	uc001iqi.3	-	25	3082	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	895	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGACCTGTCGTCTCCGAGAC	0.458000														24			3		0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49061970	49061970	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49061970G>A	uc003cvt.3	-	12	1573	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	494					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GGCTGAGGACGTTCTCTTCTC	0.567000														114			4		0	0	1	0	0
TPSD1	23430	broad.mit.edu	37	16	1306310	1306310	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1306310G>A	uc002clb.1	+	0	38	c.29G>A	c.(28-30)aGc>aAc	p.S10N	TPSD1_uc010brm.1_5'Flank	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	10					proteolysis	extracellular region	serine-type endopeptidase activity	p.S10I(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				CAGATGCTGAGCCTGCTGCTG	0.687000														50			17		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24529235	24529235	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24529235G>A	uc001wlj.2	+	22	2082	c.1925G>A	c.(1924-1926)cGc>cAc	p.R642H	LRRC16B_uc001wlk.2_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	642										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CAAGCCTATCGCAGCGCGCCT	0.657000														68			3		0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187191	62187191	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62187191C>T	uc002yfj.3	+	1	267	c.175C>T	c.(175-177)Cac>Tac	p.H59Y	C20orf195_uc021wgc.1_Missense_Mutation_p.H59Y	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	59										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCTGAGTCCGCACCTGCTCAA	0.647000														25			23		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	16021924	16021924	+	Splice_Site	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:16021924G>A	uc002wou.3	+	16	1495	c.1231_splice	c.e16+1	p.V411_splice	MACROD2_uc002wot.3_Splice_Site_p.A411_splice|MACROD2_uc002woz.3_Splice_Site_p.V176_splice|MACROD2_uc002wpb.3_Splice_Site_p.A176_splice|MACROD2_uc002wpd.3_Splice_Site_p.V62_splice	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	411										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGTCCTGATGGTAAGGTTCTG	0.443000														26			31		0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2950032	2950032	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:2950032G>A	uc003ggj.1	-	8	1458	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L	NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Silent_p.L208L|NOP14_uc003ggl.3_Silent_p.L462L	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	462					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTCCTTCTGCGAGACTCGGGT	0.473000														43			12		0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73441651	73441651	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:73441651G>A	uc001xnm.3	-	9	2544	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	ZFYVE1_uc001xnl.3_Missense_Mutation_p.A193V|ZFYVE1_uc010arj.3_Missense_Mutation_p.A594V	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	608						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AAAGGACGTCGCACACTTGTT	0.527000														32			11		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150648045	150648045	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:150648045G>A	uc003wic.3	-	7	2510	c.2109C>T	c.(2107-2109)caC>caT	p.H703H	KCNH2_uc003wib.3_Silent_p.H363H|KCNH2_uc011kux.2_Silent_p.H607H|KCNH2_uc003wid.3_Silent_p.H363H|KCNH2_uc003wie.3_Silent_p.H703H	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	703					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGGACCAGGCGTGCTGGAAGT	0.652000														32			19		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46806300	46806300	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:46806300C>T	uc003bhw.1	-	6	4928	c.4928G>A	c.(4927-4929)cGg>cAg	p.R1643Q	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1643	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGTACCTTCCCGGGTGCCATT	0.627000														33			13		0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23530539	23530539	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:23530539G>A	uc001wit.4	-	16	3894	c.3566C>T	c.(3565-3567)gCg>gTg	p.A1189V	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.A431V|ACIN1_uc001wiq.4_Missense_Mutation_p.A431V|ACIN1_uc001wir.4_Missense_Mutation_p.A462V|ACIN1_uc001wis.4_Missense_Mutation_p.A870V|ACIN1_uc010akg.3_Missense_Mutation_p.A1176V|ACIN1_uc010tnj.2_Missense_Mutation_p.A1149V	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1189	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTAGACTTCGCACGTTCCTT	0.562000														75			12		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48626075	48626075	+	Splice_Site	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:48626075G>A	uc003ctz.2	-	19	2588	c.2587_splice	c.e19+1	p.P863_splice		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	863	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCTGCCTACGCGTAGTGACA	0.582000														49			15		0	0	1	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20873571	20873571	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20873571C>T	uc002dhz.3	-	1	431	c.290G>A	c.(289-291)cGc>cAc	p.R97H	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	97	DCUN1.				negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		ATCCTTGTAGCGCCTGAACAG	0.542000														106			7		0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20242798	20242798	+	RNA	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:20242798G>A	uc010cqy.1	+	4		c.887G>A								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						TGCAGAAAACGTCTCAAGAAC	0.373000														401			6		0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49473833	49473833	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49473833G>A	uc002plp.3	-	13	2020	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S	GYS1_uc010emm.3_Silent_p.S529S|GYS1_uc010xzz.2_Silent_p.S513S	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	593					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CCAGAAGGTCGGAGAGGCGCT	0.597000											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			9		0	0	1	0	0
EDA2R	60401	broad.mit.edu	37	X	65819457	65819457	+	Missense_Mutation	SNP	T	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:65819457T>G	uc004dwt.2	-	5	836	c.826A>C	c.(826-828)Aca>Cca	p.T276P	EDA2R_uc004dwr.3_Intron|EDA2R_uc004dws.3_Missense_Mutation_p.T255P|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Missense_Mutation_p.T131P|EDA2R_uc004dwq.3_Missense_Mutation_p.T255P|EDA2R_uc022byh.1_Missense_Mutation_p.T257P	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN	Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.	255					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						TCCAGCTCTGTGCATTCGATG	0.577000														112			5		0	0	1	0	0
OR4K13	390433	broad.mit.edu	37	14	20502143	20502143	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20502143C>T	uc010tkz.2	-	0	775	c.775G>A	c.(775-777)Gtc>Atc	p.V259I		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y258C(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AAGGGCCAGACGTAGATAAAG	0.403000														42			30		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096804	168096804	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:168096804G>A	uc010jjg.3	-	34	4761	c.4341C>T	c.(4339-4341)ggC>ggT	p.G1447G	SLIT3_uc003mab.3_Silent_p.G1440G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1440					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCAGTGCTCGCCGCTAAAGC	0.592000														32			38		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127339608	127339608	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:127339608C>T	uc003ejp.3	+	13	2390	c.2333C>T	c.(2332-2334)gCg>gTg	p.A778V	MCM2_uc011bkm.2_Missense_Mutation_p.A648V|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.A731V	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	778					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						GAGGCCCACGCGCGCATCCAT	0.582000														61			66		0	0	1	0	0
TM4SF1	4071	broad.mit.edu	37	3	149093475	149093475	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:149093475G>A	uc003exb.1	-	1	493	c.259C>T	c.(259-261)Cga>Tga	p.R87*	TM4SF1_uc003exc.1_5'UTR	NM_014220	NP_055035	P30408	T4S1_HUMAN	Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA.	87						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ACCGCACATCGTTTGCCACAG	0.512000														61			53		0	0	1	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777945	56777945	+	Missense_Mutation	SNP	C	T	T	rs149395843	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:56777945C>T	uc003jrm.3	-	0	692	c.590G>A	c.(589-591)cGa>cAa	p.R197Q		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	197						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GTTATAGCCTCGCTCTGTCAG	0.532000														44			34		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210166	100210166	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:100210166G>A	uc002taf.3	-	13	2176	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	AFF3_uc002tag.3_Missense_Mutation_p.R653W|AFF3_uc010fiq.1_Missense_Mutation_p.R653W|AFF3_uc010yvr.1_Missense_Mutation_p.R806W|AFF3_uc002tah.1_Missense_Mutation_p.R678W	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	653	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.T677M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTTAGCCCCCGCGTGCGGCGC	0.632000														4			22		0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211775	249211775	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:249211775T>C	uc001ifh.3	+	2	1139	c.992T>C	c.(991-993)gTa>gCa	p.V331A	PGBD2_uc001ifg.3_Missense_Mutation_p.V80A|PGBD2_uc009xhd.3_Missense_Mutation_p.V328A|PGBD2_uc021pmh.1_Missense_Mutation_p.V80A	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	331										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGCAGTATGGTAATAAAATTT	0.458000														68			14		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135292055	135292055	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:135292055C>T	uc003vsw.3	+	21	3162	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1044					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGAAAGGAACGGAAGGGAGA	0.463000														62			39		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61497780	61497780	+	Silent	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:61497780A>G	uc002jal.4	+	24	4460	c.4437A>G	c.(4435-4437)agA>agG	p.R1479R	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Silent_p.R590R	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1479							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCCCACTAGACAGACCTATC	0.552000														80			4		0	0	1	0	0
SLC26A1	10861	broad.mit.edu	37	4	983647	983647	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:983647C>T	uc003gcb.3	-	3	1458	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	SLC26A1_uc003gbx.3_Intron|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Silent_p.A360A	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	360						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGAACATCTCCGCCAGCGAGA	0.662000														31			13		0	0	1	0	0
CCDC28B	79140	broad.mit.edu	37	1	32667610	32667610	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:32667610G>A	uc021okt.1	+	1	206	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	CCDC28B_uc001bul.1_Missense_Mutation_p.R25Q	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	25			R -> W (in dbSNP:rs1407134).							large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGCACACTACGGAGGGTCCCT	0.637000														36			15		0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78428480	78428480	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:78428480C>T	uc001dii.3	-	13	1408	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.R461Q	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	440	KH 4.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TATGAGTTGCCGAGCATAGTC	0.343000			"""F, N"""		oligodendroglioma									91			31		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79512906	79512906	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79512906C>T	uc002kaq.3	-	5	2249	c.2176G>A	c.(2176-2178)Gtg>Atg	p.V726M	C17orf70_uc002kao.1_Missense_Mutation_p.V375M|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.V575M	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	726					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CACAGGGGCACGCCTGGAGGG	0.642000														11			4		0	0	1	0	0
AMH	268	broad.mit.edu	37	19	2249496	2249496	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2249496C>T	uc002lvh.2	+	0	384	c.165C>T	c.(163-165)tgC>tgT	p.C55C	AMH_uc021umr.1_5'Flank	NM_000479	NP_000470	P03971	MIS_HUMAN	Homo sapiens anti-Mullerian hormone (AMH), mRNA.	55					Mullerian duct regression|cell differentiation|cell-cell signaling|gonadal mesoderm development|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity			lung(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCTCTGTGCCTGGTGGCAC	0.667000									Persistant Mullerian Duct Syndrome (type I and II)					54			15		0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102789203	102789203	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:102789203C>T	uc002tbq.3	+	8	1214	c.896C>T	c.(895-897)tCg>tTg	p.S299L	IL1R1_uc010fix.3_Missense_Mutation_p.S299L|IL1R1_uc002tbr.3_Missense_Mutation_p.S299L	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	299	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CTTAATATATCGGAAATTGAA	0.333000														94			9		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49002432	49002432	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49002432G>A	uc002pjk.3	-	11	1981	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GCGGTCCCCCGCTCCCCCAAG	0.731000														4			7		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98576517	98576517	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:98576517C>T	uc003upp.3	+	56	8812	c.8603C>T	c.(8602-8604)gCg>gTg	p.A2868V	TRRAP_uc011kis.2_Missense_Mutation_p.A2850V|TRRAP_uc003upr.3_Missense_Mutation_p.A2567V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2868	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.A2850V(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAAGGAGGCGCTGGTGCAG	0.622000														13			6		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2560637	2560637	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:2560637C>T	uc002wgf.1	+	6	784	c.769C>T	c.(769-771)Cga>Tga	p.R257*	TMC2_uc002wgg.1_Nonsense_Mutation_p.R241*|TMC2_uc010zpw.1_Nonsense_Mutation_p.R89*|TMC2_uc010zpx.1_Nonsense_Mutation_p.R88*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	257						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATCTTTCTCCGATGGATGTA	0.398000														146			108		0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6063568	6063568	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:6063568G>A	uc001iiz.2	-	3	675	c.456C>T	c.(454-456)tgC>tgT	p.C152C	IL2RA_uc009xih.2_Intron|IL2RA_uc001ija.1_Intron	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	152	Sushi 2.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	ATCCCTGGACGCACTGATAAT	0.527000														18			60		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207383	45207383	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45207383G>A	uc010xxd.2	+	3	684	c.478G>A	c.(478-480)Gcc>Acc	p.A160T		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	160										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCCACCGCCGAGGTCCG	0.697000														23			30		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982431	7982431	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:7982431C>T	uc001mfv.1	-	1	745	c.728G>A	c.(727-729)cGg>cAg	p.R243Q		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	243	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAACAGGAGCCGCTCTGGCTG	0.552000														74			15		0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151377515	151377515	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:151377515G>A	uc001eyd.2	-	18	4311	c.3996C>T	c.(3994-3996)ccC>ccT	p.P1332P	POGZ_uc021oyq.1_Silent_p.P1279P|POGZ_uc010pdb.2_Silent_p.P1323P|POGZ_uc010pdc.2_Silent_p.P1270P|POGZ_uc009wmv.2_Silent_p.P1237P|POGZ_uc001eyf.2_Silent_p.P1288P|POGZ_uc010pdd.2_Silent_p.P823P	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1332					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTTGCCATCGGGGCCAGGCA	0.537000											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		65			50		0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143691481	143691481	+	Missense_Mutation	SNP	G	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:143691481G>C	uc003evo.3	+	0	842	c.307G>C	c.(307-309)Ggc>Cgc	p.G103R	C3orf58_uc011bnl.2_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	103						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGCGAGGGCGGCCGCCGCCG	0.716000														17			5		0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52601913	52601913	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:52601913G>A	uc002xws.2	-	6	1391	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	BCAS1_uc010zza.1_Silent_p.S109S|BCAS1_uc010zzb.1_Silent_p.S299S|BCAS1_uc010gim.2_Silent_p.S299S|BCAS1_uc002xwt.2_Silent_p.S351S|BCAS1_uc010gil.1_Silent_p.S351S	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	351						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GGGTTGTCACGGACTGTGTGT	0.517000														121			39		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735119	140735119	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140735119C>T	uc003ljq.2	+	0	352	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R118W	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	118	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGATTTTGCGGGTAGAGGT	0.458000														26			33		0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4624492	4624492	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:4624492G>A	uc001lzf.2	-	2	795	c.505C>T	c.(505-507)Cga>Tga	p.R169*	TRIM68_uc010qyj.2_Non-coding_Transcript|TRIM68_uc009yek.2_Nonsense_Mutation_p.R169*	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	169					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGGCAGTTCGTTTCCTTTCA	0.522000														66			8		0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91366523	91366523	+	Missense_Mutation	SNP	A	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:91366523A>C	uc001xys.2	-	10	1523	c.1308T>G	c.(1306-1308)agT>agG	p.S436R	RPS6KA5_uc010twi.1_Missense_Mutation_p.S357R|RPS6KA5_uc001xyt.3_Missense_Mutation_p.S436R	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	436	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AAATTGAAAAACTACCTTCTC	0.328000														61			18		0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94353042	94353042	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:94353042G>A	uc001pfa.3	+	17	2496	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	762	Piwi.				DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAAGCAACACGTAACGAATGG	0.428000														32			39		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48703307	48703307	+	Silent	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:48703307A>G	uc001zwx.2	-	65	8891	c.8496T>C	c.(8494-8496)agT>agC	p.S2832S	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2832					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTGGAGTACTACTGATTTGTA	0.373000														263			20		0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150679259	150679259	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:150679259C>T	uc001evk.2	-	9	692	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	HORMAD1_uc001evl.2_Missense_Mutation_p.G185S|HORMAD1_uc001evm.2_Missense_Mutation_p.G112S	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	Homo sapiens HORMA domain containing 1 (HORMAD1), transcript variant 1, mRNA.	192	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TCCTTAAAACCGGGAGGCTGG	0.343000														42			22		0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79663491	79663491	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79663491G>A	uc002kbg.3	+	15	1633	c.1498G>A	c.(1498-1500)Gag>Aag	p.E500K		NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	500	Interaction with NF2.|Interaction with SNAP25 and TRAK2 (By similarity).|Interaction with SNX1 (By similarity).|Interaction with STAM1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCGGGCAGCCGAGGAGGCAGA	0.687000														7			10		0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145139221	145139221	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145139221G>A	uc003zax.3	+	5	911	c.801G>A	c.(799-801)acG>acA	p.T267T	GPAA1_uc003zav.1_Silent_p.T145T|GPAA1_uc003zaw.1_Silent_p.T207T	NM_003801	NP_003792	O43292	GPAA1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA.	267					C-terminal protein lipidation|attachment of GPI anchor to protein|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGTGCACGCTTCAGGGCA	0.627000														54			14		0	0	1	0	0
C22orf32	91689	broad.mit.edu	37	22	42475902	42475902	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42475902C>A	uc003bca.3	+	0	208	c.130C>A	c.(130-132)Ccg>Acg	p.P44T		NM_033318	NP_201575	Q9H4I9	CV032_HUMAN	Homo sapiens chromosome 22 open reading frame 32 (C22orf32), mRNA.	44						integral to membrane|mitochondrion				ovary(1)	1						GAGCCTGGTACCGTCGAGGTC	0.647000														27			16		4.7546e-09	4.85164e-09	1	1	0
HGSNAT	138050	broad.mit.edu	37	8	43052122	43052122	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:43052122G>A	uc003xpx.4	+	14	1544	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	527			E -> K (in MPS3C; results in a negligible amount of protein synthesis and very low enzyme activity; retained in the endoplasmic reticulum).		lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TACAAGGCTCGGACCAAAGAC	0.373000														111			25		0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44238507	44238507	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:44238507T>C	uc001rod.3	+	1	119	c.53T>C	c.(52-54)gTg>gCg	p.V18A	TMEM117_uc001roe.3_5'UTR|TMEM117_uc009zkc.3_Missense_Mutation_p.V18A	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	18						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CGCATGATTGTGGCTTACTTG	0.388000														136			4		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43309889	43309889	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43309889C>T	uc003oux.3	-	7	3415	c.3337G>A	c.(3337-3339)Gcc>Acc	p.A1113T	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1113					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CGCTTTATGGCATCTTGCTTG	0.468000														28			13		0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42729973	42729973	+	Missense_Mutation	SNP	G	A	A	rs149858475		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42729973G>A	uc002osz.1	+	2	1574	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	ZNF526_uc021uvc.1_Missense_Mutation_p.R473H	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CGGCGTCACCGCTGTGGGGTT	0.657000														35			12		0	0	1	0	0
CKB	1152	broad.mit.edu	37	14	103988669	103988669	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:103988669G>A	uc001ynf.2	-	1	268	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_001823	NP_001814	P12277	KCRB_HUMAN	Homo sapiens creatine kinase, brain (CKB), mRNA.	54	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGATGACGTCGTCCAGCGTGA	0.726000														24			10		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234527364	234527364	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:234527364T>C	uc001hwd.3	-	29	4825	c.4825A>G	c.(4825-4827)Acc>Gcc	p.T1609A		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1609					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGCTGCCTGGTGTACTCCCAG	0.488000														80			5		0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129641862	129641862	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129641862C>T	uc022bnn.1	+	0	172	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	ZBTB34_uc004bqm.4_Missense_Mutation_p.R58W	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	58	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCATATTTCCGGGACCATTC	0.468000														113			5		0	0	1	0	0
SSC5D	284297	broad.mit.edu	37	19	56024455	56024455	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:56024455G>A	uc002qlg.4	+	12	2950	c.2863G>A	c.(2863-2865)Gca>Aca	p.A955T		NM_001144950	NP_001138422	A1L4H1	SRCRL_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing (5 domains) (SSC5D), transcript variant 1, mRNA.	955						extracellular region|membrane	scavenger receptor activity			NS(1)|breast(1)|skin(2)	4						GACCCCTACCGCAGGCAAACT	0.592000														49			35		0	0	1	0	0
HMGXB3	22993	broad.mit.edu	37	5	149404017	149404017	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:149404017G>A	uc003lrk.4	+	6	1810	c.1234G>A	c.(1234-1236)Gag>Aag	p.E412K		NM_014983	NP_055798	Q12766	HMGX3_HUMAN	Homo sapiens HMG box domain containing 3 (HMGXB3), mRNA.	658						nucleus	DNA binding|kinase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2)	9						AGTAGGTGAGGAGAGTGAGTG	0.502000														50			13		0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41769459	41769459	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:41769459C>T	uc001zny.3	+	12	1669	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	553					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GGACCGCCAGCGGACCAAGAA	0.547000														85			4		0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30924630	30924630	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:30924630C>T	uc003xio.4	+	5	1374	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C		NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	196	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAAGTCTATCCGCTGTAGCAA	0.413000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					97			4		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32713733	32713733	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:32713733A>G	uc010ezu.3	+	41	8181	c.8047A>G	c.(8047-8049)Ata>Gta	p.I2683V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2683					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.W2682C(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGGAGCAGACATATTTTTATA	0.318000														121			27		0	0	1	0	0
PRKAG1	5571	broad.mit.edu	37	12	49396782	49396782	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:49396782C>T	uc001rsy.3	-	11	1002	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	PRKAG1_uc010smd.2_Missense_Mutation_p.R267Q|PRKAG1_uc001rsz.3_Missense_Mutation_p.R308Q	NM_002733	NP_001193639	P54619	AAKG1_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 1 non-catalytic subunit (PRKAG1), transcript variant 1, mRNA.	299	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding	p.R299Q(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						CACTACAAGTCGGTGAACCTG	0.542000														55			28		0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49208391	49208391	+	Silent	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:49208391C>A	uc001crx.4	-	3	842	c.798G>T	c.(796-798)ccG>ccT	p.P266P	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Silent_p.P97P	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	266										large_intestine(5)|lung(2)|skin(1)	8						TCCGTAACTCCGGCTCGGGCT	0.468000														67			3		0.150653	0.150653	1	1	0
GRB7	2886	broad.mit.edu	37	17	37900401	37900401	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:37900401C>T	uc002hsr.3	+	6	1017	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	GRB7_uc002hss.3_Missense_Mutation_p.R248C|GRB7_uc021twu.1_Missense_Mutation_p.R271C|GRB7_uc010cwc.3_Missense_Mutation_p.R248C|GRB7_uc002hst.3_Missense_Mutation_p.R248C	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	248	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTTTGGAAACGCTTTTTCTG	0.567000														69			5		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139815782	139815782	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:139815782G>A	uc003lfs.2	+	1	554	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.D134N|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.D134N|ANKHD1-EIF4EBP3_uc003lfo.3_Missense_Mutation_p.D134N|ANKHD1-EIF4EBP3_uc003lfp.3_Missense_Mutation_p.D134N|ANKHD1-EIF4EBP3_uc010jfk.3_Missense_Mutation_p.D134N	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	134						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGGAGCAGACTTACGCAC	0.368000														116			173		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71887760	71887760	+	Missense_Mutation	SNP	C	T	T	rs144383140		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:71887760C>T	uc010fen.3	+	44	5123	c.4982C>T	c.(4981-4983)aCg>aTg	p.T1661M	DYSF_uc010fei.3_Missense_Mutation_p.T1639M|DYSF_uc010feh.3_Missense_Mutation_p.T1629M|DYSF_uc002sig.4_Missense_Mutation_p.T1608M|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.T1653M|DYSF_uc010fee.3_Missense_Mutation_p.T1643M|DYSF_uc010fef.3_Missense_Mutation_p.T1660M|DYSF_uc002sie.3_Missense_Mutation_p.T1622M|DYSF_uc010feo.3_Missense_Mutation_p.T1654M|DYSF_uc010fej.3_Missense_Mutation_p.T1630M|DYSF_uc010fel.3_Missense_Mutation_p.T1609M|DYSF_uc010fem.3_Missense_Mutation_p.T1644M|DYSF_uc002sif.3_Missense_Mutation_p.T1623M|DYSF_uc010fek.3_Missense_Mutation_p.T1640M|DYSF_uc010yqy.2_Missense_Mutation_p.T503M|DYSF_uc010yqz.2_Missense_Mutation_p.T383M	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1622	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ATCCCCTGCACGCTGGAGCCC	0.502000														45			28		0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52681795	52681795	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52681795G>A	uc001sab.3	-	4	923	c.873C>T	c.(871-873)gcC>gcT	p.A291A	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	291	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTCGGCCTCGGCCCGGCTGC	0.562000														59			6		0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31328607	31328607	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:31328607C>T	uc003aje.1	-	23	3850	c.2486G>A	c.(2485-2487)tGc>tAc	p.C829Y		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	891							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AATGCGGAGGCATTCGGAAGT	0.592000														32			29		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38536030	38536030	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38536030G>A	uc003auy.1	-	4	892	c.756C>T	c.(754-756)aaC>aaT	p.N252N	PLA2G6_uc003auz.1_Silent_p.N252N|PLA2G6_uc003ava.1_Silent_p.N252N|PLA2G6_uc003avb.2_Silent_p.N252N|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Intron	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	252					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGGGGTAGCCGTTGGGGCCCA	0.637000														37			8		0	0	1	0	0
H2BFM	286436	broad.mit.edu	37	X	103294871	103294871	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:103294871G>A	uc004els.2	+	0	356	c.328G>A	c.(328-330)Gtg>Atg	p.V110M		NM_001164416	NP_001157888			Homo sapiens H2B histone family, member M (H2BFM), mRNA.											endometrium(1)|lung(1)|ovary(1)	3						CACCAAGCGCGTGACCATCAC	0.627000														32			16		0	0	1	0	0
C8orf48	157773	broad.mit.edu	37	8	13424581	13424581	+	Missense_Mutation	SNP	C	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:13424581C>G	uc003wwp.3	+	0	230	c.81C>G	c.(79-81)aaC>aaG	p.N27K		NM_001007090	NP_001007091	Q96LL4	CH048_HUMAN	Homo sapiens chromosome 8 open reading frame 48 (C8orf48), mRNA.	27							protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	5						CTTTGAAGAACTCTACTGATG	0.527000														64			15		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757945	53757945	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:53757945C>T	uc003dgv.4	+	13	2182	c.2019C>T	c.(2017-2019)ggC>ggT	p.G673G	CACNA1D_uc003dgu.4_Silent_p.G693G|CACNA1D_uc003dgy.4_Silent_p.G673G|CACNA1D_uc003dgw.4_Silent_p.G340G	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	673					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGCTGTTTGGCGGCAAGTTTA	0.453000														97			76		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145094825	145094825	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145094825C>T	uc011lkw.2	+	1	329	c.227C>T	c.(226-228)cCg>cTg	p.P76L	SPATC1_uc011lkx.2_Missense_Mutation_p.P76L	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	76	Necessary for targeting centrosomes (By similarity).									NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTCCTGCCCCCGTCCCCAGCA	0.627000														61			53		0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083895	8083895	+	Silent	SNP	A	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8083895A>T	uc001qtr.3	-	3	718	c.456T>A	c.(454-456)ggT>ggA	p.G152G		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	152					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.R151R(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TGCCAAAGGCACCCCGCAGGG	0.522000														383			72		0	0	1	0	0
C5orf55	116349	broad.mit.edu	37	5	442635	442635	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:442635C>T	uc010ita.3	-	0	624	c.303G>A	c.(301-303)gcG>gcA	p.A101A	EXOC3_uc003jba.3_5'Flank	NM_138464	NP_612473	Q8N2X6	CE055_HUMAN	Homo sapiens chromosome 5 open reading frame 55 (C5orf55), mRNA.	101						extracellular region				large_intestine(1)|lung(2)	3						CCAAGACCTGCGCTGCTGGGC	0.657000														20			9		0	0	1	0	0
C20orf20	55257	broad.mit.edu	37	20	61429984	61429984	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61429984G>A	uc002ydi.3	+	2	387	c.316G>A	c.(316-318)Gtc>Atc	p.V106I		NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN	Homo sapiens chromosome 20 open reading frame 20 (C20orf20), mRNA.	106					chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex				endometrium(1)|lung(5)|skin(2)|urinary_tract(3)	11	Breast(26;3.65e-08)					GAGGAACTTCGTCCTTCCAGA	0.483000														40			17		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34192538	34192538	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:34192538C>T	uc001mvl.2	-	4	1903	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	307							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GTTGAGCATGCGGAAACCCAG	0.562000														69			23		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996802	20996802	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20996802C>T	uc010vbe.2	-	47	7262	c.7262G>A	c.(7261-7263)cGt>cAt	p.R2421H	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2421	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCAGGACACGGCAGATCCT	0.552000														46			19		0	0	1	0	0
TPSAB1	7177	broad.mit.edu	37	16	1291624	1291624	+	Silent	SNP	C	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1291624C>G	uc002ckz.3	+	3	475	c.423C>G	c.(421-423)acC>acG	p.T141T	TPSAB1_uc010uux.2_Silent_p.T77T	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	141	Peptidase S1.			T -> A (in Ref. 5; ACZ98913).	proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				ACACGGTCACCCTGCCCCCTG	0.662000														120			42		0	0	1	0	0
RBFOX2	23543	broad.mit.edu	37	22	36334942	36334942	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:36334942C>T	uc003aon.4	-	1	302	c.190G>A	c.(190-192)Gag>Aag	p.E64K	RBFOX2_uc010gwu.3_5'UTR|RBFOX2_uc003aoo.4_Missense_Mutation_p.E64K	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 2 (RBFOX2), transcript variant 5, mRNA.	4					RNA splicing|estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation	cytoplasm|nucleus	RNA binding|nucleotide binding|transcription corepressor activity|transcription factor binding	p.G63*(1)		endometrium(4)|large_intestine(7)|lung(7)	18						GTCAGAGGCTCGTTCTATGAG	0.403000														126			22		0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26108074	26108074	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:26108074C>T	uc003ngj.3	-	0	291	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	83	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CAGTTTGATGCGGCTGTTATT	0.502000														26			79		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18052173	18052173	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:18052173C>T	uc021trm.1	+	31	7082	c.6863C>T	c.(6862-6864)tCg>tTg	p.S2288L	MYO15A_uc021trl.1_Missense_Mutation_p.S2286L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2288	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GACCTGGTGTCGGACCTGGAG	0.627000														31			17		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23174516	23174516	+	Missense_Mutation	SNP	C	T	T	rs145002005		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:23174516C>T	uc003xdh.1	-	8	1921	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	LOXL2_uc010lty.1_Missense_Mutation_p.V67M	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	528	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGGCAGGCCACGTCCTCCCCG	0.657000														64			4		0	0	1	0	0
NEURL1B	54492	broad.mit.edu	37	5	172113866	172113866	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:172113866C>T	uc003mbt.3	+	4	1740	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	NEURL1B_uc021yhs.1_Missense_Mutation_p.R354W|NEURL1B_uc021yht.1_Missense_Mutation_p.R296W	NM_001142651	NP_001136123	A8MQ27	NEU1B_HUMAN	Homo sapiens neuralized homolog 1B (Drosophila) (NEURL1B), mRNA.	536							ligase activity|zinc ion binding			endometrium(2)	2						GCGACAGGCCCGGGCCTGCTG	0.647000														60			3		0	0	1	0	0
IL13RA1	3597	broad.mit.edu	37	X	117907851	117907851	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:117907851G>A	uc004eqs.3	+	8	1062	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_001560	NP_001551	P78552	I13R1_HUMAN	Homo sapiens interleukin 13 receptor, alpha 1 (IL13RA1), mRNA.	340						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						GGTAAGAAGCGCAATTCCACA	0.393000														28			3		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135615108	135615108	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:135615108G>A	uc003yup.3	-	5	1040	c.854C>T	c.(853-855)tCg>tTg	p.S285L	ZFAT_uc003yun.3_Missense_Mutation_p.S273L|ZFAT_uc003yuo.3_Missense_Mutation_p.S273L|ZFAT_uc010meh.3_Missense_Mutation_p.S273L|ZFAT_uc010mej.3_Missense_Mutation_p.S223L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.S273L|ZFAT_uc003yur.3_Missense_Mutation_p.S273L	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGCCTGCAGCGAGTGCTTGAA	0.507000														85			19		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20735292	20735292	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:20735292G>A	uc002npa.3	-	2	395	c.215C>T	c.(214-216)gCc>gTc	p.A72V		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	72					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TGAGGGGTTGGCTACCATCTC	0.413000														106			5		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	985016	985016	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:985016C>T	uc001ack.2	+	25	4635	c.4585C>T	c.(4585-4587)Cgc>Tgc	p.R1529C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1529	Laminin G-like 1.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CAACAACCAGCGCCTGGAGCT	0.731000														12			17		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39951259	39951259	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:39951259C>T	uc021olw.1	+	63	17610	c.17610C>T	c.(17608-17610)gcC>gcT	p.A5870A	MACF1_uc021ols.1_Silent_p.A5359A|MACF1_uc021olt.1_Silent_p.A5362A|MACF1_uc001cde.2_Silent_p.A276A|MACF1_uc001cdg.3_3'UTR|MACF1_uc001cdh.3_3'UTR	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7320					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ggagtcgagccgggagtcgag	0.552000														21			12		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911059	46911059	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:46911059G>A	uc001ndn.4	-	15	2361	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	706	EGF-like 3.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCAGCCTCCGTTGTTGTCCC	0.587000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6			9		0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553528	135553528	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135553528C>T	uc010mzv.3	+	1	780	c.522C>T	c.(520-522)tgC>tgT	p.C174C	GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	174					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCATGGGTTGCGATGCTAATG	0.532000														27			35		0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102667418	102667418	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102667418T>C	uc001phi.2	-	3	745	c.602A>G	c.(601-603)gAa>gGa	p.E201G	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.E135G	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	201	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GGTCCACCTTTCATCTTCATC	0.428000														53			3		0	0	1	0	0
ANP32AP1	723972	broad.mit.edu	37	15	35529895	35529895	+	RNA	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:35529895C>T	uc001ziy.3	+	0		c.369C>T								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		TTTTCAATTGCGAGGTAACCA	0.448000														185			37		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142178160	142178160	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:142178160C>T	uc003yvy.3	+	12	1849	c.1571C>T	c.(1570-1572)cCg>cTg	p.P524L	DENND3_uc010mep.3_Missense_Mutation_p.P485L|DENND3_uc003yvz.1_Missense_Mutation_p.P208L	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	524										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCCACTTTCCGCTGGAGAGC	0.527000														70			74		0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89169104	89169104	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:89169104G>A	uc010cig.2	+	2	967	c.759G>A	c.(757-759)gcG>gcA	p.A253A	ACSF3_uc010cih.2_5'UTR|ACSF3_uc002fmp.3_Silent_p.A253A|ACSF3_uc021tmq.1_Silent_p.A253A|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	253					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity	p.A253S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGTCAACGCGCTGCTCTGTC	0.627000														22			20		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74901299	74901299	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:74901299G>A	uc002jti.3	+	5	875	c.772G>A	c.(772-774)Ggg>Agg	p.G258R	MGAT5B_uc002jth.3_Missense_Mutation_p.G247R	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	247						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATGGGCAGCGGGAAGGAGTC	0.637000														111			4		0	0	1	0	0
MMP12	4321	broad.mit.edu	37	11	102738681	102738681	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102738681G>A	uc001phk.3	-	5	839	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	249					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GCAGAGAGGCGAAATGTGTTG	0.418000														69			16		0	0	1	0	0
SOCS7	30837	broad.mit.edu	37	17	36521270	36521270	+	Silent	SNP	G	A	A	rs149190855		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:36521270G>A	uc002hqa.3	+	3	1159	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	SOCS7_uc010cvl.3_Intron|SOCS7_uc002hqb.3_Non-coding_Transcript	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	346	Mediates interaction with SORBS3.|Poly-Pro.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					CCCTACCTCCGCCTCCTCCAC	0.498000														27			10		0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80749554	80749554	+	Missense_Mutation	SNP	G	A	A	rs2230512	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:80749554G>A	uc003pjc.3	+	18	2383	c.2272G>A	c.(2272-2274)Gat>Aat	p.D758N	TTK_uc003pjb.4_Missense_Mutation_p.D757N	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	758	Protein kinase.		D -> N (in dbSNP:rs2230512).		mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D742N(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTTCCCGATATTCCAGA	0.269000														106			8		0	0	1	0	0
C22orf32	91689	broad.mit.edu	37	22	42475891	42475891	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:42475891G>T	uc003bca.3	+	0	197	c.119G>T	c.(118-120)cGg>cTg	p.R40L		NM_033318	NP_201575	Q9H4I9	CV032_HUMAN	Homo sapiens chromosome 22 open reading frame 32 (C22orf32), mRNA.	40						integral to membrane|mitochondrion				ovary(1)	1						GGCTCAGGCCGGAGCCTGGTA	0.652000														29			17		3.32936e-07	3.38277e-07	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118500256	118500256	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:118500256T>C	uc010jcl.1	+	19	4938	c.4757T>C	c.(4756-4758)cTg>cCg	p.L1586P	DMXL1_uc003ksd.2_Missense_Mutation_p.L1586P|DMXL1_uc021ycw.1_Missense_Mutation_p.L1413P	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1586										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAAGAAGAACTGCTGAACATG	0.433000														178			7		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42641562	42641562	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:42641562G>A	uc011dur.2	+	36	4418	c.4120G>A	c.(4120-4122)Gca>Aca	p.A1374T	UBR2_uc011dus.2_Missense_Mutation_p.A1019T|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_5'UTR	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1374					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	p.A1373V(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GAGATTTGCCGCAGCACACTG	0.353000														25			26		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14107224	14107224	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:14107224G>A	uc001avi.3	+	7	3790	c.2934G>A	c.(2932-2934)ccG>ccA	p.P978P	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.P978P|PRDM2_uc021ogk.1_Silent_p.P741P|PRDM2_uc001avk.3_Silent_p.P777P|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	978	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CCTGTCCCCCGGTATTAACTG	0.612000														17			71		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43585733	43585733	+	Missense_Mutation	SNP	C	T	T	rs150218635	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43585733C>T	uc001zrf.1	-	1	112	c.107G>A	c.(106-108)cGc>cAc	p.R36H		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	36					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.V35L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTGGCCGCGGCGCACAGTGAG	0.617000														53			13		0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209214769	209214769	+	Missense_Mutation	SNP	C	T	T	rs147015179		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:209214769C>T	uc002vcz.3	+	35	5554	c.5396C>T	c.(5395-5397)aCa>aTa	p.T1799I		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1799	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.T1799I(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGAGGAGATACACAAAAGAAG	0.348000														28			48		0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35095327	35095327	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35095327C>T	uc003zwd.3	-	1	632	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	PIGO_uc003zwe.3_Missense_Mutation_p.R79Q|PIGO_uc003zwf.3_Missense_Mutation_p.R79Q|PIGO_uc003zwc.1_Missense_Mutation_p.R79Q|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	79					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAAGTCAAATCGCAGAGCATC	0.602000														61			23		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63981293	63981293	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:63981293G>A	uc003dlv.3	+	11	2348	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I	ATXN7_uc003dlw.4_Missense_Mutation_p.V599I|ATXN7_uc021wzy.1_Missense_Mutation_p.V599I|ATXN7_uc011bfn.2_Missense_Mutation_p.V454I	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	599					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AGCAGCCACCGTCTCTACATC	0.537000														76			53		0	0	1	0	0
LINC00518	221718	broad.mit.edu	37	6	10430027	10430027	+	RNA	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:10430027G>A	uc003myz.2	-	2		c.1009C>T								Homo sapiens long intergenic non-protein coding RNA 518 (LINC00518), non-coding RNA.																		AATTGTTTTTGCCTAAACATT	0.388000											OREG0017184	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		2			3		0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127975736	127975736	+	Missense_Mutation	SNP	G	A	A	rs147509125		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:127975736G>A	uc004bpi.3	+	4	468	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RABEPK_uc004bph.2_Missense_Mutation_p.R100H|RABEPK_uc004bpj.3_Intron|RABEPK_uc004bpk.3_Missense_Mutation_p.R100H	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	100					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACACCTGACCGTATCTGGGTA	0.448000														57			15		0	0	1	0	0
LOXHD1	125336	broad.mit.edu	37	18	44057528	44057528	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:44057528G>A	uc010xcw.1	-	39	6543	c.6543C>T	c.(6541-6543)agC>agT	p.S2181S	LOXHD1_uc002lcd.4_Intron|LOXHD1_uc002lce.4_Intron|LOXHD1_uc002lcf.4_Intron|LOXHD1_uc010xcu.1_Silent_p.S482S|LOXHD1_uc010xcv.2_Silent_p.S1114S	NM_144612	NP_653213	Q8IVV2	LOXH1_HUMAN	Homo sapiens lipoxygenase homology domains 1 (LOXHD1), transcript variant 1, mRNA.	1273					sensory perception of sound	stereocilium	protein binding			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						CCACGCCGGTGCTGGTGTTGG	0.632000														28			6		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266964	41266964	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:41266964G>A	uc010hia.1	+	5	791	c.635G>A	c.(634-636)cGt>cAt	p.R212H	CTNNB1_uc003ckq.2_Missense_Mutation_p.R212H|CTNNB1_uc003ckp.2_Missense_Mutation_p.R212H|CTNNB1_uc003ckr.2_Missense_Mutation_p.R212H|CTNNB1_uc011azf.1_Missense_Mutation_p.R205H|CTNNB1_uc011azg.1_Missense_Mutation_p.R140H|AK311005_uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	212					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GAAACAGCTCGTTGTACCGCT	0.478000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					90			72		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113657336	113657336	+	Splice_Site	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:113657336A>G	uc003ynu.3	-	20	3469	c.3310_splice	c.e20+1	p.G1104_splice	CSMD3_uc003yns.3_Splice_Site_p.G376_splice|CSMD3_uc003ynt.3_Splice_Site_p.G1064_splice|CSMD3_uc011lhx.2_Splice_Site_p.G1000_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1104	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAGGCAAATTACCTTTTCCAT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				53			9		0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198353083	198353083	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:198353083C>T	uc002uui.3	-	9	1485	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T	HSPD1_uc010zgx.2_Missense_Mutation_p.A441T|HSPD1_uc010fsm.3_Missense_Mutation_p.A261T|HSPD1_uc002uuk.3_Missense_Mutation_p.A450T	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	450					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GAGTCCAAGGCTGGAATGCAT	0.393000														37			59		0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172182369	172182369	+	Missense_Mutation	SNP	C	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:172182369C>G	uc010zdo.2	-	8	1156	c.1015G>C	c.(1015-1017)Gca>Cca	p.A339P	METTL8_uc002ugu.4_Missense_Mutation_p.A339P|METTL8_uc002ugt.4_3'UTR|METTL8_uc002ugs.4_3'UTR|METTL8_uc010zdp.2_Missense_Mutation_p.A294P	NM_024770	NP_079046	B3KW44	B3KW44_HUMAN	Homo sapiens methyltransferase like 8 (METTL8), mRNA.	339							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						AAGAAATATGCTCTGGTACCA	0.289000														13			24		0	0	1	0	0
S100A4	6275	broad.mit.edu	37	1	153516294	153516294	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:153516294C>T	uc001fby.3	-	3	365	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	S100A5_uc001fbx.3_5'Flank|S100A4_uc001fbz.3_Missense_Mutation_p.A83T|AK307246_uc009wog.1_5'Flank	NM_019554	NP_062427	P26447	S10A4_HUMAN	Homo sapiens S100 calcium binding protein A4 (S100A4), transcript variant 2, mRNA.	83	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	RAGE receptor binding|calcium ion binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACATCATGGCGATGCAGGAC	0.517000														63			38		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37529279	37529279	+	Missense_Mutation	SNP	G	A	A	rs139690056		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:37529279G>A	uc002xje.3	+	4	712	c.523G>A	c.(523-525)Gag>Aag	p.E175K	PPP1R16B_uc010ggc.3_Missense_Mutation_p.E175K	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	175					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGACCTCTGCGAGGATGAACC	0.572000														18			21		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813771	24813771	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:24813771G>A	uc003xee.3	-	0	361	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	87	Head.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCCTGCGTGCGGATGGACTTG	0.622000														89			4		0	0	1	0	0
GJB1	2705	broad.mit.edu	37	X	70443744	70443744	+	Missense_Mutation	SNP	G	A	A	rs116840818		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:70443744G>A	uc022byr.1	+	0	187	c.187G>A	c.(187-189)Gtt>Att	p.V63I	BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzf.3_Missense_Mutation_p.V63I|GJB1_uc004dzg.3_Missense_Mutation_p.V63I	NM_001097642	NP_001091111	P08034	CXB1_HUMAN	Homo sapiens gap junction protein, beta 1, 32kDa (GJB1), transcript variant 1, mRNA.	63			V -> I (in CMTX1; can be associated with Gln-22).		cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development	connexon complex|endoplasmic reticulum membrane|integral to membrane	gap junction channel activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1)	10	Renal(35;0.156)					CTGCAACAGCGTTTGCTATGA	0.557000														73			6		0	0	1	0	0
TAT	6898	broad.mit.edu	37	16	71602619	71602619	+	Missense_Mutation	SNP	C	T	T	rs137946175	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:71602619C>T	uc002fap.2	-	10	1318	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	407					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCCACCGTTGCTGGGAGGCAG	0.498000														21			3		0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30662010	30662010	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:30662010G>A	uc003tbm.3	+	11	1902	c.1545G>A	c.(1543-1545)gtG>gtA	p.V515V		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	515					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CAAAACTGGTGATGGAGTATC	0.403000														72			68		0	0	1	0	0
TAF10	6881	broad.mit.edu	37	11	6632970	6632970	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6632970G>A	uc001mej.2	-	1	367	c.312C>T	c.(310-312)aaC>aaT	p.N104N		NM_006284	NP_006275	Q12962	TAF10_HUMAN	Homo sapiens TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa (TAF10), mRNA.	104					histone H3 acetylation|histone deubiquitination|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|STAGA complex|perinuclear region of cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	RNA polymerase binding|estrogen receptor binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCACGTCTCCGTTGGCCGCGC	0.637000														31			10		0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67522808	67522808	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:67522808C>T	uc003jva.3	+	1	885	c.305C>T	c.(304-306)tCg>tTg	p.S102L		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	102					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CCAGGTTCTTCGAAAACTGAA	0.433000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				118			30		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830322	830322	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:830322G>T	uc002cjz.1	-	2	679	c.679C>A	c.(679-681)Cag>Aag	p.Q227K		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGCACAGCCTGGGCCCAAGCG	0.622000														88			4		0.014758	0.0148047	1	1	0
CCDC14	64770	broad.mit.edu	37	3	123675252	123675252	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123675252G>A	uc011bjx.2	-	2	344	c.253C>T	c.(253-255)Cgt>Tgt	p.R85C	CCDC14_uc003egv.4_5'Flank|CCDC14_uc003egx.4_5'UTR|CCDC14_uc010hrt.3_Missense_Mutation_p.R85C|CCDC14_uc003egy.4_5'UTR|CCDC14_uc003egz.2_5'UTR	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	85						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GCATTAAAACGTGGTATTTTT	0.284000														200			4		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189526150	189526150	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:189526150C>T	uc003fry.2	+	3	503	c.414C>T	c.(412-414)caC>caT	p.H138H	TP63_uc003frx.2_Silent_p.H138H|TP63_uc003frz.2_Silent_p.H138H|TP63_uc010hzc.1_Silent_p.H138H|TP63_uc003fsa.2_Silent_p.H44H|TP63_uc003fsb.2_Silent_p.H44H|TP63_uc003fsc.2_Silent_p.H44H|TP63_uc003fsd.2_Silent_p.H44H|TP63_uc021xir.1_Silent_p.H44H|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Silent_p.H19H	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	138					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACAGACCACGCGCAGAACA	0.612000										HNSCC(45;0.13)				33			30		0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34145548	34145548	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:34145548C>T	uc001wru.3	+	5	754	c.690C>T	c.(688-690)gcC>gcT	p.A230A	NPAS3_uc001wrs.3_Silent_p.A217A|NPAS3_uc001wrv.3_Silent_p.A200A|NPAS3_uc001wrt.3_Silent_p.A198A|NPAS3_uc001wrw.3_Silent_p.A128A	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AGGACGGAGCCAGCTCAGCAT	0.622000														28			26		0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767738	23767738	+	Missense_Mutation	SNP	G	A	A	rs79455352	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23767738G>A	uc002dmb.1	+	4	805	c.382G>A	c.(382-384)Gat>Aat	p.D128N		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	128	EF-hand 3.						calcium ion binding	p.D128Y(2)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CCTGGATCGCGATGGGAAGAT	0.537000														32			3		0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10818003	10818003	+	Silent	SNP	C	T	T	rs151104617		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10818003C>T	uc002mpr.3	+	3	502	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	159					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TGCAGCTGGACGACGTGGTTA	0.567000														68			12		0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8729031	8729031	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:8729031C>T	uc002cyz.3	+	4	838	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	188							methyltransferase activity			large_intestine(5)|lung(4)	9						CCAGGTGTGGCGGGGCGCCCT	0.647000														84			4		0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156785800	156785800	+	Missense_Mutation	SNP	C	T	T	rs146718843	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:156785800C>T	uc009wsh.2	-	1	261	c.121G>A	c.(121-123)Gcg>Acg	p.A41T	SH2D2A_uc001fqc.1_Missense_Mutation_p.A13T|SH2D2A_uc001fqd.2_Missense_Mutation_p.A41T|SH2D2A_uc001fqe.2_Missense_Mutation_p.A23T|SH2D2A_uc010phs.1_Missense_Mutation_p.A41T|NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	41					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCACTCACCGCAGTGTAGCCC	0.602000														21			14		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92086239	92086239	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:92086239T>C	uc001pdj.4	+	0	978	c.961T>C	c.(961-963)Ttg>Ctg	p.L321L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	321	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGAAAGTGGTTGAATGAGTA	0.448000										TCGA Ovarian(4;0.039)				45			18		0	0	1	0	0
BC034827	0	broad.mit.edu	37	8	26237164	26237164	+	RNA	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:26237164G>A	uc003xew.3	-	1		c.2785C>T								Homo sapiens cDNA clone IMAGE:4826633.																		TTATGAAGGCGTTCAATGTCC	0.433000														62			34		0	0	1	0	0
CNR1	1268	broad.mit.edu	37	6	88853689	88853689	+	Silent	SNP	G	A	A	rs75641625	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:88853689G>A	uc010kbz.3	-	1	1435	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	CNR1_uc011dzr.2_Silent_p.H435H|CNR1_uc011dzs.2_Silent_p.H435H|CNR1_uc003pmq.4_Silent_p.H435H|CNR1_uc011dzt.2_Silent_p.H435H|CNR1_uc010kca.3_Silent_p.H402H|CNR1_uc021zco.1_Silent_p.H435H	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	435					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CATTGTTTGCGTGTTTGTGCA	0.557000														69			4		0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51252617	51252617	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:51252617C>T	uc001rwx.4	+	2	480	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TMPRSS12_uc001rwy.3_Missense_Mutation_p.R145C	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	Homo sapiens transmembrane (C-terminal) protease, serine 12 (TMPRSS12), mRNA.	145	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TATACATGGACGCTATCCTCA	0.279000														30			39		0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57843846	57843846	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:57843846G>A	uc003dje.1	+	6	852	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	SLMAP_uc003djc.1_Missense_Mutation_p.R216Q|SLMAP_uc003djd.1_Missense_Mutation_p.R216Q|SLMAP_uc003djf.1_Missense_Mutation_p.R216Q	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	216					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTCTTATCACGGTTAGAAGTT	0.294000														145			4		0	0	1	0	0
HAPLN4	404037	broad.mit.edu	37	19	19369385	19369385	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:19369385C>T	uc002nmb.3	-	3	874	c.764G>A	c.(763-765)cGc>cAc	p.R255H	HAPLN4_uc002nmc.3_Missense_Mutation_p.R255H	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 4 (HAPLN4), mRNA.	255	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GGCGTTATGGCGATACCCGTA	0.701000														17			6		0	0	1	0	0
SYT16	83851	broad.mit.edu	37	14	62463128	62463128	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:62463128C>T	uc001xfu.1	+	0	588	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	SYT16_uc010tsd.1_Missense_Mutation_p.R131C	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	131			R -> L (in dbSNP:rs17099370).					p.R131H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CAGTGATGACCGCAAGTTACC	0.502000														64			54		0	0	1	0	0
CGGBP1	8545	broad.mit.edu	37	3	88105046	88105046	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:88105046G>A	uc003dqs.3	-	3	593	c.81C>T	c.(79-81)gtC>gtT	p.V27V	CGGBP1_uc003dqt.3_Silent_p.V27V|CGGBP1_uc003dqu.3_Silent_p.V27V|CGGBP1_uc021xbe.1_Silent_p.V27V	NM_001008390	NP_003654	Q9UFW8	CGBP1_HUMAN	Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1), transcript variant 1, mRNA.	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		CAAACTCAGTGACTCGATCCA	0.453000														53			56		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652027	88652027	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88652027G>A	uc001xwm.3	-	6	1606	c.1484C>T	c.(1483-1485)aCg>aTg	p.T495M	KCNK10_uc001xwn.3_Missense_Mutation_p.T495M|KCNK10_uc001xwo.3_Missense_Mutation_p.T490M	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	490					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.C494R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CATCTTTTCCGTCTCCTCCTC	0.502000														226			6		0	0	1	0	0
RNF208	727800	broad.mit.edu	37	9	140115390	140115390	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140115390G>A	uc004clz.2	-	0	386	c.275C>T	c.(274-276)cCg>cTg	p.P92L		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	Homo sapiens ring finger protein 208 (RNF208), mRNA.	92							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGCAGTGGCGGGGTATGGGG	0.637000														21			17		0	0	1	0	0
FFAR2	2867	broad.mit.edu	37	19	35941487	35941487	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:35941487C>T	uc002nzg.2	+	1	951	c.871C>T	c.(871-873)Ctg>Ttg	p.L291L	FFAR2_uc010eea.3_Silent_p.L291L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	291						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTGCAGGTGCTGCGGAATCA	0.582000														42			24		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCTTCCACTCGGATAAGATGC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				14			48		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28972125	28972125	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:28972125C>T	uc002kwr.2	+	7	962	c.827C>T	c.(826-828)gCc>gTc	p.A276V	DSG4_uc002kwq.2_Missense_Mutation_p.A276V	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	276	Cadherin 3.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAGTACTCAGCCAGTATTGAA	0.294000														67			15		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65134098	65134098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:65134098G>A	uc010wqk.2	-	21	3092	c.2905C>T	c.(2905-2907)Cga>Tga	p.R969*	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Nonsense_Mutation_p.R968*	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTCTTTTTTCGAAGTTCAGCA	0.378000														55			26		0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69583647	69583647	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:69583647C>T	uc002sfi.2	-	6	769	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	GFPT1_uc002sfh.3_Missense_Mutation_p.G196R	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	196	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ACTGCTTGCCCGGGAAAATGA	0.358000														108			5		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43773188	43773188	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:43773188G>A	uc001zrs.3	-	4	537	c.389C>T	c.(388-390)gCt>gTt	p.A130V	TP53BP1_uc010udp.2_Missense_Mutation_p.A130V|TP53BP1_uc001zrq.4_Missense_Mutation_p.A135V|TP53BP1_uc001zrr.4_Missense_Mutation_p.A135V|TP53BP1_uc010udq.1_Missense_Mutation_p.A135V	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	130					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ttcctccACAGCAGGAGCAGA	0.453000								Other conserved DNA damage response genes						235			4		0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619951	52619951	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:52619951T>C	uc002pym.3	-	3	749	c.466A>G	c.(466-468)Act>Gct	p.T156A	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CTCCCTTCAGTTTGAACTTTC	0.363000														134			6		0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54012317	54012317	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:54012317G>A	uc004dsu.3	-	16	2415	c.2169C>T	c.(2167-2169)ggC>ggT	p.G723G	PHF8_uc004dsv.3_Silent_p.G553G|PHF8_uc004dst.3_Silent_p.G687G|PHF8_uc004dsw.3_Silent_p.G586G|PHF8_uc004dsx.3_Silent_p.G451G|PHF8_uc004dsy.3_Intron	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	723					G1/S transition of mitotic cell cycle|brain development|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGCCACCAGCGCCACTACCAT	0.552000														9			40		0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20360337	20360337	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:20360337C>T	uc002dhb.3	-	3	514	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	UMOD_uc002dgz.3_Missense_Mutation_p.E96K|UMOD_uc002dha.3_Missense_Mutation_p.E96K	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	96	EGF-like 3; calcium-binding (Potential).				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CGGAAGCCTTCGGGGCAGACG	0.637000														43			12		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	23999859	23999859	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:23999859A>G	uc002dmd.3	+	2	433	c.236A>G	c.(235-237)cAt>cGt	p.H79R	PRKCB_uc002dme.3_Missense_Mutation_p.H79R	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	79					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAGCGGTGCCATGAATTTGTC	0.517000														54			12		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36210431	36210431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36210431C>T	uc021usv.1	+	1	424	c.424C>T	c.(424-426)Cga>Tga	p.R142*	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1835					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTCTGCGCTCCGATCCCAGCG	0.562000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				44			3		0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53685530	53685530	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53685530C>T	uc001sck.2	+	25	5668	c.5577C>T	c.(5575-5577)taC>taT	p.Y1859Y	ESPL1_uc001scj.2_Silent_p.Y1534Y	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1859					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCCTGGCCTACGGGCTGTGCC	0.582000														86			20		0	0	1	0	0
MSRB1	51734	broad.mit.edu	37	16	1991404	1991404	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1991404C>T	uc021tam.1	-	1	195	c.58G>A	c.(58-60)Gtt>Att	p.V20I	TCRBV20S1_uc021tak.1_Intron	NM_016332	NP_057416	Q9NZV6	MSRB1_HUMAN	Homo sapiens selenoprotein X, 1 (SEPX1), mRNA.	20					protein repair	cytoplasm|nucleus	peptide-methionine-(S)-S-oxide reductase activity|zinc ion binding									L-Methionine(DB00134)	CACACGTAAACGCCTGTGGTG	0.592000														29			14		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51752021	51752021	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:51752021G>A	uc001ryk.2	-	7	1618	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Nonsense_Mutation_p.R465*|GALNT6_uc001ryj.1_Nonsense_Mutation_p.R30*	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	465					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R465*(2)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AGCTGCAGTCGTTCCGAAATG	0.468000														48			24		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126389786	126389786	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:126389786A>G	uc003ifj.4	+	10	12019	c.12019A>G	c.(12019-12021)Agt>Ggt	p.S4007G	FAT4_uc011cgp.2_Missense_Mutation_p.S2270G|FAT4_uc003ifi.1_Missense_Mutation_p.S1485G	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4007	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CACGATTAAAAGTCATGCCTT	0.388000														86			5		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74327959	74327959	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:74327959C>T	uc002skb.4	+	8	3639	c.3639C>T	c.(3637-3639)gaC>gaT	p.D1213D		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1213							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCCCACAGACGCCCACCACC	0.642000														18			8		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23248734	23248734	+	RNA	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:23248734C>T	uc021wml.1	+	439		c.17867C>T			abParts_uc021wmm.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CTGAGCCTGACGCCTGAGCAG	0.577000														238			66		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116430676	116430676	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:116430676C>T	uc003yny.3	-	5	3283	c.2705G>A	c.(2704-2706)cGt>cAt	p.R902H	TRPS1_uc011lhy.2_Missense_Mutation_p.R893H|TRPS1_uc003ynz.3_Missense_Mutation_p.R889H|TRPS1_uc010mcy.3_Missense_Mutation_p.R889H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	889					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGCCTCTACGCCTCTGAAA	0.478000									Langer-Giedion syndrome					54			43		0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90020686	90020686	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:90020686G>A	uc002fpn.2	+	2	342	c.209G>A	c.(208-210)cGt>cAt	p.R70H	DEF8_uc021tmu.1_Missense_Mutation_p.R9H|DEF8_uc002fpl.3_Missense_Mutation_p.R9H|DEF8_uc002fpm.3_Missense_Mutation_p.R9H|DEF8_uc002fpo.2_Missense_Mutation_p.R9H|DEF8_uc002fpp.2_Missense_Mutation_p.R9H|DEF8_uc021tmv.1_Missense_Mutation_p.R9H|DEF8_uc010vpq.2_Intron|DEF8_uc010vpr.2_Missense_Mutation_p.R9H	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	70					intracellular signal transduction		zinc ion binding	p.R70C(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AAGCTGGCCCGTTTCCGGCAG	0.632000														9			12		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102987417	102987417	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:102987417G>A	uc001phn.1	+	4	884	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	DYNC2H1_uc009yxe.1_Missense_Mutation_p.R247Q|DYNC2H1_uc001pho.2_Missense_Mutation_p.R247Q	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	247	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTGAGTCACGAATGTTGCAT	0.348000														20			21		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368741	40368741	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:40368741C>T	uc002omp.4	-	27	12615	c.12607G>A	c.(12607-12609)Gtg>Atg	p.V4203M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4203	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGAGCGTCACGTCTACCCGC	0.607000														87			7		0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30231238	30231238	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:30231238G>A	uc002wwj.1	+	3	354	c.279G>A	c.(277-279)gcG>gcA	p.A93A		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	93					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AGACCTTTGCGGAGATGAACC	0.567000														93			19		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23174480	23174480	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:23174480C>T	uc003xdh.1	-	8	1957	c.1618G>A	c.(1618-1620)Gga>Aga	p.G540R	LOXL2_uc010lty.1_Missense_Mutation_p.G79R	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	540	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.G540R(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CAGGCAACTCCGGCCCCGTAC	0.662000														32			14		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227600	56227600	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:56227600C>T	uc002xyq.3	-	3	766	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	PMEPA1_uc002xyr.3_Missense_Mutation_p.A75T|PMEPA1_uc002xys.3_Missense_Mutation_p.A90T|PMEPA1_uc002xyt.3_Missense_Mutation_p.A75T	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	125					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TCCCGCTGGGCGAAGGGCGGC	0.706000														4			10		0	0	1	0	0
PPP4R2	151987	broad.mit.edu	37	3	73096446	73096446	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:73096446G>A	uc003dph.1	+	2	296	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	PPP4R2_uc003dpi.1_Intron	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.	76					RNA splicing|mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		CCCTAATGTCGAATATATTCC	0.348000														125			100		0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32587274	32587274	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:32587274C>T	uc003amg.3	-	4	1558	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	RFPL2_uc003ame.3_Missense_Mutation_p.V147I|RFPL2_uc003amf.3_Missense_Mutation_p.V118I|RFPL2_uc003amh.3_Missense_Mutation_p.V118I	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	208	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CCACTTCGGACGCTCCTGAGG	0.527000														99			80		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52420183	52420183	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:52420183C>T	uc011bef.2	+	54	8894	c.8633C>T	c.(8632-8634)aCg>aTg	p.T2878M	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2878	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGTGGATACGGCCATCGCC	0.552000														70			9		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188112	121188112	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:121188112G>A	uc003kss.3	+	0	463	c.454G>A	c.(454-456)Gac>Aac	p.D152N		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	152	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.D151D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGAACAGGACGACTGGGAAAG	0.587000														34			37		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43004364	43004364	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:43004364C>T	uc010wji.2	-	13	2469	c.2368G>A	c.(2368-2370)Gtt>Att	p.V790I	KIF18B_uc002iht.3_Missense_Mutation_p.V799I|KIF18B_uc010wjh.2_Missense_Mutation_p.V787I	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.									p.V799I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACCTCGCAACGCGCTTCTTC	0.637000														18			7		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79236854	79236854	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:79236854C>T	uc003hlb.2	+	15	2225	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	FRAS1_uc003hkw.3_Silent_p.G595G|FRAS1_uc003hky.1_Silent_p.G299G|FRAS1_uc003hkz.3_Silent_p.G299G|FRAS1_uc003hla.1_Silent_p.G106G	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	595					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AATGCCCTGGCGGGTACTATG	0.483000														32			23		0	0	1	0	0
COPS6	10980	broad.mit.edu	37	7	99688529	99688529	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99688529C>A	uc003usu.3	+	5	522	c.491C>A	c.(490-492)cCt>cAt	p.P164H	DD413568_uc022aif.1_5'Flank	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6), mRNA.	164					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCACAGCTTCCTGTCAGCGTT	0.443000														137			4		0.00909568	0.00913414	1	1	0
ZNF618	114991	broad.mit.edu	37	9	116812166	116812166	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:116812166G>A	uc004bid.3	+	14	2683	c.2584G>A	c.(2584-2586)Gca>Aca	p.A862T	ZNF618_uc004bic.3_Missense_Mutation_p.A769T|ZNF618_uc011lxi.2_Missense_Mutation_p.A829T|ZNF618_uc011lxj.2_Missense_Mutation_p.A830T|ZNF618_uc010mvb.3_Missense_Mutation_p.A452T	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	862					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGAGAACCCCGCAGCTCAGGA	0.597000														42			8		0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5707746	5707746	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:5707746C>T	uc002mcx.3	-	5	1057	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	LONP1_uc002mcy.3_Missense_Mutation_p.E278K|LONP1_uc010duh.3_Missense_Mutation_p.E83K|LONP1_uc010dui.3_Missense_Mutation_p.E326K|LONP1_uc002mcz.3_Missense_Mutation_p.E146K	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	342	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATGGGACTCGGCCCCGGTG	0.662000														79			34		0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74315583	74315583	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:74315583C>T	uc002awv.3	+	2	1157	c.1017C>T	c.(1015-1017)taC>taT	p.Y339Y	PML_uc002awj.1_Silent_p.Y339Y|PML_uc002awm.3_Silent_p.Y339Y|PML_uc002awl.3_Silent_p.Y339Y|PML_uc002awk.3_Silent_p.Y339Y|PML_uc002awn.3_Silent_p.Y339Y|PML_uc002awo.3_Silent_p.Y339Y|PML_uc002awp.3_Silent_p.Y339Y|PML_uc002awq.3_Silent_p.Y339Y|PML_uc002awr.3_Silent_p.Y339Y|PML_uc002aws.3_Silent_p.Y339Y|PML_uc002awt.3_Silent_p.Y339Y|PML_uc002awu.3_Silent_p.Y339Y|PML_uc010ule.2_Intron|PML_uc002aww.1_Silent_p.Y254Y|PML_uc002awx.3_Silent_p.Y97Y|PML_uc002awy.3_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	339					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TGAAGTGCTACGCCTCGGACC	0.692000			T	"""RARA, PAX5"""	"""APL, ALL"""									33			32		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17664602	17664602	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:17664602G>A	uc001baj.2	+	4	506	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	PADI4_uc009vpc.2_Missense_Mutation_p.E160K	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	160					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGACAATCTCGAATCTTCTGC	0.527000														8			65		0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484970	97484970	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:97484970C>T	uc001vmw.3	+	1	958	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 3 (HS6ST3), mRNA.	312						integral to membrane	sulfotransferase activity	p.R312H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TCGCCAGGTGCGCATGCTGGC	0.527000														24			17		0	0	1	0	0
UCKL1	54963	broad.mit.edu	37	20	62571654	62571654	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62571654G>A	uc010gkn.3	-	13	1491	c.1416C>T	c.(1414-1416)caC>caT	p.H472H	UCKL1_uc011abm.2_Silent_p.H457H|UCKL1_uc011abn.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	472					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGGCACGTCGTGGTCCTACC	0.577000														34			13		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36210898	36210898	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36210898C>T	uc021usv.1	+	2	649	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	669					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTCCACCCCCCGGCGGTCTCG	0.682000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				13			9		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	978746	978746	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:978746C>T	uc001ack.2	+	7	1562	c.1512C>T	c.(1510-1512)agC>agT	p.S504S		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	504	Kazal-like 5.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGTGCGGCAGCGACGGCGTCA	0.662000														9			35		0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38345781	38345781	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:38345781G>A	uc001ccf.1	-	8	1062	c.1025C>T	c.(1024-1026)aCg>aTg	p.T342M	INPP5B_uc009vvk.1_Missense_Mutation_p.T447M|INPP5B_uc001ccg.1_Missense_Mutation_p.T506M|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	586					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTCAGAGCCCGTATCATACTT	0.483000														12			6		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116918232	116918232	+	Missense_Mutation	SNP	C	T	T	rs143749132		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:116918232C>T	uc003viz.3	-	4	1360	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	WNT2_uc003vja.3_Missense_Mutation_p.A258T	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	354					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GTCCAGTCAGCGTTCTTGGGG	0.567000														70			14		0	0	1	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154473	248154473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:248154473C>T	uc001idv.1	+	0	905	c.661C>T	c.(661-663)Cga>Tga	p.R221*	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						GGCCCTGACACGAGTGATTCA	0.468000														12			8		0	0	1	0	0
TCF7L1	83439	broad.mit.edu	37	2	85533623	85533623	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:85533623C>T	uc002soy.3	+	9	1423	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	400					Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A399V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CGAGCTGGCCCGGAAGGAGCG	0.607000														28			11		0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2226329	2226329	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:2226329G>A	uc002cow.3	+	19	2041	c.1942G>A	c.(1942-1944)Gcg>Acg	p.A648T		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	648					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CAGTGTCACCGCGCTGGCTGT	0.642000														23			26		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51245506	51245506	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:51245506C>T	uc001wyi.3	-	5	643	c.452G>A	c.(451-453)cGc>cAc	p.R151H	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R151H|NIN_uc001wyk.3_Missense_Mutation_p.R151H|NIN_uc001wyo.3_Missense_Mutation_p.R151H|NIN_uc001wyp.1_Missense_Mutation_p.R113H	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	151					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTCCTCACTGCGTTGCGTCTT	0.512000			T	PDGFRB	MPD									18			17		0	0	1	0	0
RAB6B	51560	broad.mit.edu	37	3	133553468	133553468	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:133553468C>T	uc003epy.3	-	6	894	c.513G>A	c.(511-513)gcG>gcA	p.A171A	RAB6B_uc011blu.1_Silent_p.A158A	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA.	171					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic membrane-bounded vesicle	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GTAGAGCCGACGCCACACGTC	0.502000														58			16		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231628	7231628	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7231628C>T	uc003mxb.3	+	9	3788	c.3296C>T	c.(3295-3297)aCg>aTg	p.T1099M	RREB1_uc021yky.1_Missense_Mutation_p.T1099M|RREB1_uc003mxc.3_Missense_Mutation_p.T1099M|RREB1_uc010jnx.3_Missense_Mutation_p.T1099M|RREB1_uc021ykz.1_Missense_Mutation_p.T1099M|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1099					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTAACACCACGGCTTCAGAC	0.627000														27			17		0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438454	120438454	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:120438454G>A	uc021vnk.1	+	0	25	c.25G>A	c.(25-27)Gca>Aca	p.A9T	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.A9T|TMEM177_uc002tmc.1_Missense_Mutation_p.A9T|TMEM177_uc002tmd.2_Missense_Mutation_p.A9T|TMEM177_uc010flh.3_Missense_Mutation_p.A9T	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	9						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GTGGCGGACCGCAGCATTTGT	0.577000														15			28		0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76780412	76780412	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:76780412G>A	uc001sye.1	-	12	1861	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	OSBPL8_uc001syf.1_Missense_Mutation_p.R419C|OSBPL8_uc001syg.1_Missense_Mutation_p.R419C|OSBPL8_uc001syh.1_Missense_Mutation_p.R436C	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	461					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTCTTCAAACGGAAATAAGGA	0.274000														79			91		0	0	1	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182681755	182681755	+	Silent	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:182681755A>G	uc003fld.1	-	2	352	c.303T>C	c.(301-303)agT>agC	p.S101S		NM_020640	NP_065691	Q96GG9	DCNL1_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae) (DCUN1D1), mRNA.	101	DCUN1.					ubiquitin ligase complex	protein binding	p.S101R(2)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TAATCAACACACTAATGCTGG	0.418000														85			4		0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210643	126210643	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:126210643G>A	uc003qai.3	+	8	1812	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	NCOA7_uc010kes.3_Silent_p.A481A|NCOA7_uc003qae.4_Silent_p.A481A|NCOA7_uc010ket.3_Silent_p.A366A|NCOA7_uc003qah.3_Silent_p.A470A	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	481					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TGAAGGGGGCGCTAGATTTAG	0.453000														28			11		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81630237	81630237	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81630237C>T	uc021ssk.1	-	18	2110	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	TMC3_uc021ssj.1_Missense_Mutation_p.A704T|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.A704T	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	704						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGAGACCGTGCGATGCTCTGG	0.443000														90			61		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416582	105416582	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:105416582C>T	uc010axc.1	-	6	5326	c.5206G>A	c.(5206-5208)Ggc>Agc	p.G1736S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G1636S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1736						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTTGAAGCCGGCTCCCTCG	0.637000														61			43		0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40125029	40125029	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:40125029G>A	uc001cdq.1	-	5	871	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	291					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGAGAGCCCGGGCCCCGGAA	0.612000														30			41		0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145138659	145138659	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:145138659C>T	uc003zax.3	+	3	519	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C	GPAA1_uc003zav.1_Missense_Mutation_p.R15C|GPAA1_uc003zaw.1_Missense_Mutation_p.R77C	NM_003801	NP_003792	O43292	GPAA1_HUMAN	Homo sapiens glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast) (GPAA1), mRNA.	137					C-terminal protein lipidation|attachment of GPI anchor to protein|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCGGGCCCCGCGTGCTGCCAG	0.642000														27			20		0	0	1	0	0
MESDC1	59274	broad.mit.edu	37	15	81295560	81295560	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81295560C>T	uc002bfz.3	+	0	2266	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	Homo sapiens mesoderm development candidate 1 (MESDC1), mRNA.	316										endometrium(1)|lung(2)	3						CCGACGGGGGCGCCAAGATGT	0.672000														12			10		0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99860551	99860551	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:99860551T>C	uc002szw.1	-	4	544	c.431A>G	c.(430-432)cAc>cGc	p.H144R	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Missense_Mutation_p.H144R|LYG2_uc002szx.1_Missense_Mutation_p.H144R	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	144					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						CTGTGAAAGGTGCTCTTTGCT	0.433000														66			7		0	0	1	0	0
GREB1L	80000	broad.mit.edu	37	18	19070219	19070219	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:19070219C>T	uc010xam.2	+	18	3208	c.2937C>T	c.(2935-2937)cgC>cgT	p.R979R	GREB1L_uc010dlp.1_Silent_p.R870R|GREB1L_uc010xan.1_Silent_p.R395R|GREB1L_uc010dlr.1_Silent_p.R90R	NM_001142966	NP_001136438	Q9C091	GRB1L_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer-like (GREB1L), mRNA.	979						integral to membrane				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						AGGAGGTGCGCGACAAACTGG	0.552000											OREG0024887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			24		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140941360	140941360	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140941360C>T	uc004cog.3	+	21	3563	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	CACNA1B_uc022bqn.1_Missense_Mutation_p.R1140C|CACNA1B_uc011mfd.2_Missense_Mutation_p.R741C|CACNA1B_uc004coi.3_Missense_Mutation_p.R350C	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1140					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCACAGGCTCCGCCGCTTCTG	0.652000														17			14		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134996849	134996849	+	Splice_Site	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:134996849C>T	uc001llz.1	+	4	362	c.361_splice	c.e4-1	p.A121_splice	KNDC1_uc001lma.1_Splice_Site_p.A56_splice	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	121	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TGCCCACAGGCGCACATCTAC	0.657000														5			5		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49030737	49030737	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:49030737G>A	uc001zwz.3	-	26	5035	c.4842C>T	c.(4840-4842)tcC>tcT	p.S1614S	CEP152_uc001zwy.3_Silent_p.S1558S	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1558					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAAGATAACCGGATGGTGAAA	0.378000														109			25		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12574914	12574914	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:12574914G>A	uc002mtv.4	-	3	1983	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF709_uc002mtw.4_Nonsense_Mutation_p.R576*|ZNF709_uc002mtx.4_Nonsense_Mutation_p.R608*	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GTGTGAGTTCGTTCATGGATT	0.428000														64			28		0	0	1	0	0
MECP2	4204	broad.mit.edu	37	X	153296438	153296438	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:153296438C>T	uc004fjv.2	-	3	1067	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	MECP2_uc004fjw.2_Missense_Mutation_p.A293T	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	281					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCCTCGGCGGCAGCGGCT	0.612000														12			87		0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141619431	141619431	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:141619431C>T	uc003vwu.1	+	0	756	c.756C>T	c.(754-756)taC>taT	p.Y252Y		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y252*(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGATTGGCTACGGCAGCTGCT	0.498000														56			41		0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45262838	45262838	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:45262838C>T	uc010xxe.2	+	8	1401	c.1331C>T	c.(1330-1332)cCg>cTg	p.P444L		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	444	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	p.P436Q(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCTGGCCGGCCGGTGCCCCCC	0.682000			T	IGH@	CLL									40			3		0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155921539	155921539	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:155921539G>A	uc001fmu.2	-	21	2588	c.2333C>T	c.(2332-2334)cCg>cTg	p.P778L	ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Missense_Mutation_p.P706L|ARHGEF2_uc001fms.2_Missense_Mutation_p.P733L|ARHGEF2_uc001fmt.2_Missense_Mutation_p.P734L	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	734					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding	p.P706Q(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CACCTCTTGCGGTGATCTCAG	0.517000														29			19		0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110814	20110814	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:20110814C>T	uc003wzr.3	-	1	739	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	LZTS1_uc010ltg.2_Missense_Mutation_p.A210T	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	210					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGTTGTGGGCGGAGCCCCCA	0.622000														13			11		0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27233594	27233594	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:27233594G>A	uc010hfk.3	-	4	596	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	NEK10_uc003cds.1_Missense_Mutation_p.R208C|NEK10_uc010hfj.3_Missense_Mutation_p.R123C			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	811							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTTGTGTGCGTCTTCGTTCC	0.418000														189			39		0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13186460	13186460	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:13186460C>T	uc010xmx.2	+	5	1007	c.954C>T	c.(952-954)agC>agT	p.S318S	NFIX_uc002mwd.3_Silent_p.S310S|NFIX_uc002mwe.3_Silent_p.S302S|NFIX_uc002mwf.3_Silent_p.S313S|NFIX_uc002mwg.2_Silent_p.S309S			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	310					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GCCAGTCCAGCGGGTGGCCCA	0.607000														46			12		0	0	1	0	0
SSC5D	284297	broad.mit.edu	37	19	56024481	56024481	+	Silent	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:56024481G>T	uc002qlg.4	+	12	2976	c.2889G>T	c.(2887-2889)ggG>ggT	p.G963G		NM_001144950	NP_001138422	A1L4H1	SRCRL_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing (5 domains) (SSC5D), transcript variant 1, mRNA.	963						extracellular region|membrane	scavenger receptor activity			NS(1)|breast(1)|skin(2)	4						CAACTCTTGGGGCTGGCACCA	0.602000														76			4		0.00909568	0.00913414	1	1	0
MYL10	93408	broad.mit.edu	37	7	101259535	101259535	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:101259535G>A	uc003uyr.3	-	5	676	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	166	EF-hand 2.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CTTCAGTGTCGAACACTTTGA	0.567000														50			24		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981545	61981545	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:61981545C>T	uc002yes.2	-	4	1396	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P	CHRNA4_uc002yet.1_Silent_p.P230P|CHRNA4_uc010gke.1_Silent_p.P335P|CHRNA4_uc002yev.1_Silent_p.P230P|CHRNA4_uc010gkf.1_Silent_p.P230P	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	406					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CACAGAAGGACGGTGAGGGCG	0.672000														43			11		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047504	42047504	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:42047504G>A	uc001cgz.4	-	3	4178	c.2965C>T	c.(2965-2967)Cgg>Tgg	p.R989W	HIVEP3_uc001cha.4_Missense_Mutation_p.R989W|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	989	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R989Q(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCTGACCTCCGCATCTCTCGG	0.602000														55			6		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743469	102743469	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:102743469T>C	uc001krw.2	+	13	2497	c.2113T>C	c.(2113-2115)Tgt>Cgt	p.C705R	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	700					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CTATGTGGCCTGTCTGCGGGA	0.637000														13			20		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62286931	62286931	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:62286931G>A	uc001ntl.3	-	4	15258	c.14958C>T	c.(14956-14958)agC>agT	p.S4986S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4986					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAGCTTTGGGGCTTTTTGCCC	0.458000														45			51		0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19363316	19363316	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:19363316C>T	uc011kyn.2	-	3	1094	c.30G>A	c.(28-30)gcG>gcA	p.A10A	CSGALNACT1_uc011kyo.2_Silent_p.A10A|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Silent_p.A10A|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	10					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GGGAAATCCACGCAAGCAGCC	0.607000														17			16		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43896377	43896377	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:43896377C>T	uc001cjk.2	+	30	4604	c.1994C>T	c.(1993-1995)cCg>cTg	p.P665L		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1564						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACCTGCCACCGCTCTTCCTG	0.597000														34			3		0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36028957	36028957	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:36028957G>A	uc001bza.3	+	5	1667	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	NCDN_uc001bzb.3_Missense_Mutation_p.V514M|NCDN_uc001bzc.3_Missense_Mutation_p.V497M	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	514					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCTGACAGCGTGGAGATTGG	0.627000														63			4		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96772058	96772058	+	Missense_Mutation	SNP	G	A	A	rs138090571		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:96772058G>A	uc001yfi.3	-	30	4966	c.4601C>T	c.(4600-4602)aCg>aTg	p.T1534M		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1534										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTTTGCTCGTATCGGTCTT	0.403000														117			27		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964437	123964437	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:123964437C>T	uc022bag.1	+	0	687	c.687C>T	c.(685-687)ctC>ctT	p.L229L	ZHX2_uc003ypk.1_Silent_p.L229L	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	229	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			TCTCGAGACTCGGCGGGGTGG	0.587000														53			45		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10960101	10960101	+	Silent	SNP	C	T	T	rs144421280	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:10960101C>T	uc003bvz.3	+	7	1117	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	361					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A360A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TTATGGCGTACGAGCAGGGGG	0.572000														69			11		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483646	26483646	+	Missense_Mutation	SNP	A	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:26483646A>C	uc003gse.1	-	4	1054	c.901T>G	c.(901-903)Tcc>Gcc	p.S301A		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	301					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTGGCTGCGGAGCTGTTACTC	0.612000														96			7		0	0	1	0	0
ROPN1	54763	broad.mit.edu	37	3	123689003	123689003	+	Missense_Mutation	SNP	G	A	A	rs140868038		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:123689003G>A	uc003eha.3	-	5	799	c.458C>T	c.(457-459)tCg>tTg	p.S153L		NM_017578	NP_060048	Q9HAT0	ROP1A_HUMAN	Homo sapiens rhophilin associated tail protein 1 (ROPN1), mRNA.	153					signal transduction		cAMP-dependent protein kinase regulator activity	p.S153L(2)		lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		GATCCGGGGCGACCCACCATT	0.433000														130			91		0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5827121	5827121	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:5827121G>A	uc009xid.3	-	6	1077	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	GDI2_uc001iil.4_Missense_Mutation_p.P235S|GDI2_uc001iim.4_Missense_Mutation_p.P190S			P50395	GDIB_HUMAN	Homo sapiens GDP dissociation inhibitor 2 (GDI2), transcript variant 1, mRNA.	235					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	Rab GDP-dissociation inhibitor activity|protein binding			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AATCCTTGGGGCAGTTCTCCA	0.363000														17			58		0	0	1	0	0
ST3GAL3	6487	broad.mit.edu	37	1	44303969	44303969	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:44303969G>A	uc001ckb.3	+	5	672	c.495G>A	c.(493-495)acG>acA	p.T165T	ST3GAL3_uc009vwu.1_Non-coding_Transcript|ST3GAL3_uc010okj.1_Non-coding_Transcript|ST3GAL3_uc001cjz.3_Silent_p.T111T|ST3GAL3_uc001cka.3_Silent_p.T80T|ST3GAL3_uc001ckc.3_Silent_p.T96T|ST3GAL3_uc001ckd.3_Silent_p.T150T|ST3GAL3_uc001cke.3_Silent_p.T80T|ST3GAL3_uc001ckf.3_Silent_p.T134T|ST3GAL3_uc001ckg.3_Silent_p.T96T|ST3GAL3_uc001ckh.3_Silent_p.T111T|ST3GAL3_uc001cki.3_Silent_p.T96T|ST3GAL3_uc009vwx.3_Non-coding_Transcript|ST3GAL3_uc009vwz.3_5'UTR|ST3GAL3_uc001ckm.3_Silent_p.T95T|ST3GAL3_uc001ckn.3_Non-coding_Transcript|ST3GAL3_uc001cko.3_Silent_p.T80T|ST3GAL3_uc001ckp.3_Silent_p.T95T|ST3GAL3_uc009vxa.3_Intron|ST3GAL3_uc001ckq.3_Silent_p.T80T|ST3GAL3_uc001ckr.3_Intron|ST3GAL3_uc009vxb.3_Silent_p.T80T|ST3GAL3_uc009vwv.3_Silent_p.T96T|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Non-coding_Transcript|ST3GAL3_uc001ckk.3_Intron|ST3GAL3_uc009vwy.3_Silent_p.T2T|ST3GAL3_uc001ckl.3_Silent_p.T96T	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	96					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCTTGATGACGGCCATCTTCC	0.542000														30			12		0	0	1	0	0
SLC32A1	140679	broad.mit.edu	37	20	37353701	37353701	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:37353701G>A	uc002xjc.3	+	0	597	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	112					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CGGGGGCCACGACAAGCCCAA	0.652000														39			38		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120606001	120606001	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:120606001C>T	uc003yos.2	-	12	1314	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	ENPP2_uc003yor.2_5'Flank|ENPP2_uc010mdd.2_Missense_Mutation_p.G358R|ENPP2_uc003yot.2_Missense_Mutation_p.G358R	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	358					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCATGGTCTCCGACAAAGATG	0.393000														49			25		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72292238	72292238	+	Missense_Mutation	SNP	G	A	A	rs148826761		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:72292238G>A	uc002atl.4	-	8	1897	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M	MYO9A_uc010biq.3_Missense_Mutation_p.T70M|MYO9A_uc002ato.3_Missense_Mutation_p.T475M|MYO9A_uc002atn.1_Missense_Mutation_p.T456M	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	475	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CACTGTCACCGTCTTCCTTGT	0.328000														70			32		0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23596496	23596496	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:23596496G>A	uc001wiz.3	-	10	2224	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	SLC7A8_uc001wiw.3_Missense_Mutation_p.R117W|SLC7A8_uc001wix.3_Missense_Mutation_p.R297W|SLC7A8_uc010tnk.2_Missense_Mutation_p.R276W|SLC7A8_uc010tnl.2_Missense_Mutation_p.R395W|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Missense_Mutation_p.A282V	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	500					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CCTGAGCCCCGCTCCACCTCG	0.592000														93			24		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113530121	113530121	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:113530121G>A	uc001vsj.4	+	27	3281	c.3193G>A	c.(3193-3195)Gtg>Atg	p.V1065M	ATP11A_uc001vsi.4_Missense_Mutation_p.V1065M|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	1065					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GATGTACTACGTGTTCATCCA	0.617000														15			6		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	818456	818456	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:818456G>A	uc002cjw.2	+	15	1809	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P	MSLN_uc002cju.1_Silent_p.P558P|MSLN_uc002cjt.1_Silent_p.P558P|MSLN_uc010brd.1_Silent_p.P557P|MSLN_uc002cjy.1_Silent_p.P223P|MIR662_uc021tac.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	566					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane		p.P566Q(1)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GGCACCGCCCGGTGCGGGACT	0.687000														32			16		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	48098552	48098552	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48098552G>A	uc002xur.1	-	0	632	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	KCNB1_uc002xus.1_Missense_Mutation_p.R156W	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	156					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCCCGCTCCCGTAGGGTCTCG	0.582000														85			33		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54876812	54876812	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:54876812G>A	uc002rxu.3	+	25	5512	c.5263G>A	c.(5263-5265)Gtg>Atg	p.V1755M	SPTBN1_uc002rxx.3_Missense_Mutation_p.V1742M|SPTBN1_uc002rxy.3_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1755	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GCAGGAGCGCGTGGACACGGT	0.552000														56			3		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86807816	86807816	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:86807816G>A	uc002blz.1	+	9	1356	c.1276G>A	c.(1276-1278)Gca>Aca	p.A426T	AGBL1_uc002bma.1_Missense_Mutation_p.A157T|AGBL1_uc002bmb.1_Missense_Mutation_p.A120T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	426					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGACGTAGATGCAATTTTCTG	0.443000														59			39		0	0	1	0	0
ANGPTL2	23452	broad.mit.edu	37	9	129870870	129870870	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129870870C>T	uc004bqr.1	-	1	641	c.141G>A	c.(139-141)gcG>gcA	p.A47A	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	47					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						GGGACTCGCCCGCCCGCTTGT	0.602000														33			13		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657436	72657436	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:72657436G>A	uc003txs.1	-	12	2476	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		gaatctttgcgcaatggtgct	0.453000														186			30		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20236289	20236289	+	RNA	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:20236289G>A	uc021url.1	+	2		c.713G>A						Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.							Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAATCCTACCGATAAGCCCAT	0.423000														38			3		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50664592	50664592	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50664592C>T	uc003bkb.1	-	8	2232	c.1720G>A	c.(1720-1722)Gtg>Atg	p.V574M	TUBGCP6_uc010har.1_Missense_Mutation_p.V574M|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_5'Flank|TUBGCP6_uc003bkd.1_5'UTR	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	574					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GAGATGAGCACGTAGCCATGT	0.557000														96			13		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132172979	132172979	+	Missense_Mutation	SNP	C	T	T	rs147315244		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:132172979C>T	uc003eor.3	+	8	975	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	DNAJC13_uc010htq.2_Missense_Mutation_p.R304W|DNAJC13_uc003eos.1_5'Flank	NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	304							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AGGGCAAGTACGGAAATATTC	0.318000														243			9		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7606949	7606949	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:7606949C>T	uc010xjq.2	+	11	1515	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	PNPLA6_uc002mgq.2_Silent_p.I377I|PNPLA6_uc010xjp.2_Silent_p.I377I|PNPLA6_uc002mgr.2_Silent_p.I377I|PNPLA6_uc002mgs.3_Silent_p.I416I	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	416					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGGGGACATCTCAGGTTTGG	0.597000														8			4		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9967485	9967485	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:9967485G>A	uc002mmp.3	-	4	713	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	229	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCACTCACCCGGCTATCCGCA	0.647000														29			8		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46146071	46146071	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:46146071G>A	uc002ldd.3	+	2	494	c.135G>A	c.(133-135)acG>acA	p.T45T	CTIF_uc002ldc.3_Silent_p.T45T	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	45	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CTGACAAGACGGAGGGTGATG	0.652000														29			19		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802448	27802448	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:27802448G>A	uc002rkz.4	+	0	3060	c.3009G>A	c.(3007-3009)acG>acA	p.T1003T		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1003										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAACTCAACGTTCAATGGTA	0.443000														34			19		0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73348179	73348179	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:73348179C>T	uc001vix.4	-	6	1380	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	DIS3_uc001viy.4_Missense_Mutation_p.E306K|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	336					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		AACATTTTCTCGCTTACAGCA	0.343000										Multiple Myeloma(4;0.011)				25			20		0	0	1	0	0
MRPL50	54534	broad.mit.edu	37	9	104153053	104153053	+	Nonsense_Mutation	SNP	G	A	A	rs150313404		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:104153053G>A	uc004bbe.2	-	1	217	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MRPL50_uc011lvj.2_Nonsense_Mutation_p.R58*	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN	Homo sapiens mitochondrial ribosomal protein L50 (MRPL50), nuclear gene encoding mitochondrial protein, mRNA.	58						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GTGTATGCTCGGCTTCGTAAA	0.418000														50			96		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	76886295	76886295	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:76886295G>A	uc002lmx.3	+	4	601	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.R196Q|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_5'UTR	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	196					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		ACTATGACACGGGAAGCAATT	0.333000														47			45		0	0	1	0	0
RGSL1	353299	broad.mit.edu	37	1	182509444	182509444	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:182509444G>A	uc009wxw.3	+	14	2602	c.2557G>A	c.(2557-2559)Gca>Aca	p.A853T	RGSL1_uc010pnu.1_Non-coding_Transcript|RGSL1_uc009wxx.2_Non-coding_Transcript	NM_001137669	NP_001131141	A5PLK6	RGSL_HUMAN	Homo sapiens regulator of G-protein signaling like 1 (RGSL1), mRNA.	853						integral to membrane	signal transducer activity			central_nervous_system(2)|skin(4)	6						TGTCCGGAGTGCAGACCAAGA	0.418000														20			72		0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248366613	248366613	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:248366613G>A	uc010pzg.2	+	0	244	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACCCAAGATGGCCTTCAACTA	0.512000														29			102		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62200925	62200925	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:62200925G>A	uc002yfm.2	-	4	1556	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	222					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGCTCACCCCGTGCGTAGAGC	0.667000														30			10		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1574679	1574679	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:1574679G>A	uc002cmb.3	-	23	3377	c.3015C>T	c.(3013-3015)aaC>aaT	p.N1005N	IFT140_uc002clz.3_Silent_p.N618N	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1005										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCCTGTCTCGTTGGCTATTT	0.647000														33			12		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50185655	50185655	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:50185655G>A	uc009zlk.2	-	12	4174	c.3972C>T	c.(3970-3972)taC>taT	p.Y1324Y	NCKAP5L_uc001rvc.3_Silent_p.Y528Y|NCKAP5L_uc001rvb.2_3'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	1320										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACAGCGAGTCGTAGAGTGAGT	0.687000														43			4		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41072217	41072217	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:41072217G>A	uc002ony.3	+	29	6374	c.6288G>A	c.(6286-6288)gcG>gcA	p.A2096A	SPTBN4_uc002onz.3_Silent_p.A2096A|SPTBN4_uc010egx.3_Silent_p.A839A	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2096					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCGCAAAGCGGCTGCAGCCT	0.667000														78			27		0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113346548	113346548	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113346548C>T	uc001tuc.3	+	1	494	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	OAS1_uc010syn.2_Missense_Mutation_p.R129C|OAS1_uc010syo.2_Missense_Mutation_p.R129C|OAS1_uc001tub.3_Missense_Mutation_p.R130C|OAS1_uc001tud.3_Missense_Mutation_p.R130C|OAS1_uc009zwf.3_Missense_Mutation_p.R129C	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	130	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity	p.R130L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGGCAACCCCCGTGCGCTCAG	0.577000														28			17		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64665396	64665396	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:64665396C>T	uc001obx.3	-	34	5024	c.4909G>A	c.(4909-4911)Gaa>Aaa	p.E1637K	ATG2A_uc001obw.3_Missense_Mutation_p.E402K	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1637							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCTACGCCTTCGGCCTGCCCT	0.667000														11			13		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040986	88040986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:88040986C>T	uc003dqr.2	+	1	1245	c.1087C>T	c.(1087-1089)Cga>Tga	p.R363*	HTR1F_uc021xbd.1_Nonsense_Mutation_p.R363*	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	363					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAAGCTTGTGCGATGTCGATG	0.338000														56			38		0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53895879	53895879	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53895879C>T	uc001sdo.3	+	1	622	c.134C>T	c.(133-135)aCg>aTg	p.T45M	MAP3K12_uc001sdm.2_5'Flank|MAP3K12_uc001sdn.2_5'Flank|TARBP2_uc009znb.3_Missense_Mutation_p.T45M|TARBP2_uc001sdp.3_Missense_Mutation_p.T24M|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Missense_Mutation_p.T24M	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	45	DRBM 1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						ATAGGGAAGACGCCTGTGTAC	0.597000														58			14		0	0	1	0	0
TNRC6B	23112	broad.mit.edu	37	22	40717184	40717184	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:40717184C>T	uc011aor.2	+	21	5276	c.5065C>T	c.(5065-5067)Cga>Tga	p.R1689*	TNRC6B_uc003aym.3_Nonsense_Mutation_p.R885*|TNRC6B_uc003ayn.4_Nonsense_Mutation_p.R1579*|TNRC6B_uc003ayo.3_Nonsense_Mutation_p.R1436*	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	1689	RRM.				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						TGCCCTGATCCGATACAGCAC	0.522000														46			9		0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24837116	24837116	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24837116C>T	uc002zzx.3	+	4	1661	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Missense_Mutation_p.R300C|ADORA2A_uc011ajs.2_Missense_Mutation_p.R161C|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Missense_Mutation_p.R300C|ADORA2A_uc010gup.3_Missense_Mutation_p.R300C|ADORA2A_uc003aab.3_Missense_Mutation_p.R300C|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	300			R -> H (in dbSNP:rs4990).		apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CCAGACCTTCCGCAAGATCAT	0.582000														30			26		0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101350657	101350657	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:101350657C>T	uc010txj.1	-	0	528	c.469G>A	c.(469-471)Gag>Aag	p.E157K	MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	157										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTTGAGTGCTCGGTCTGGTTT	0.522000														120			29		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139915957	139915957	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139915957G>A	uc004ckm.1	-	7	921	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	ABCA2_uc022bpy.1_Nonsense_Mutation_p.Q192*|ABCA2_uc022bpz.1_Nonsense_Mutation_p.Q262*|ABCA2_uc011mem.1_Nonsense_Mutation_p.Q261*|ABCA2_uc004ckl.1_Nonsense_Mutation_p.Q192*|ABCA2_uc004cko.1_Nonsense_Mutation_p.Q38*|ABCA2_uc010nca.3_Nonsense_Mutation_p.Q192*	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	261					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGTAGCCCTGCAGGGCTCCC	0.687000														90			41		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89854552	89854552	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:89854552C>T	uc010len.3	+	2	662	c.156C>T	c.(154-156)tgC>tgT	p.C52C	STEAP2_uc003ujy.2_Silent_p.C94C|STEAP2_uc003uka.3_Silent_p.C52C|STEAP2_uc003ujz.3_Silent_p.C52C|STEAP2_uc003ukc.3_Silent_p.C52C|STEAP2_uc003ukb.3_Silent_p.C52C|STEAP2_uc003ukd.3_Silent_p.C52C	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	52					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TTATTAGATGCGGCTATCATG	0.393000														94			70		0	0	1	0	0
RASGRP4	115727	broad.mit.edu	37	19	38901988	38901988	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:38901988G>A	uc021uub.1	-	13	1928	c.1714C>T	c.(1714-1716)Cgg>Tgg	p.R572W	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.R503W|RASGRP4_uc021uua.1_Missense_Mutation_p.R538W|RASGRP4_uc021uuc.1_Missense_Mutation_p.R480W|RASGRP4_uc021uud.1_Missense_Mutation_p.R475W|RASGRP4_uc021uue.1_Missense_Mutation_p.R383W|RASGRP4_uc021uuf.1_Missense_Mutation_p.R558W	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	572					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACTCACCCCGACAGCGGTAG	0.617000														38			5		0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20070346	20070346	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:20070346C>T	uc003wzp.3	+	8	1071	c.857C>T	c.(856-858)gCg>gTg	p.A286V		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	286					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		GAATTTCTGGCGTACCAATGT	0.413000														117			22		0	0	1	0	0
UBAP1L	390595	broad.mit.edu	37	15	65391969	65391969	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:65391969C>T	uc010uit.2	-	2	956	c.783G>A	c.(781-783)gcG>gcA	p.A261A	UBAP1L_uc002aok.3_Silent_p.A261A|UBAP1L_uc010bhe.3_Non-coding_Transcript	NM_001163692	NP_001157164	F5GYI3	F5GYI3_HUMAN	Homo sapiens ubiquitin associated protein 1-like (UBAP1L), mRNA.	261										breast(1)|endometrium(1)|kidney(1)	3						GCAGGTCAGCCGCAGTATCAG	0.612000														61			13		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4511019	4511019	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:4511019C>T	uc002mar.1	-	2	2911	c.2911G>A	c.(2911-2913)Gcc>Acc	p.A971T	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	971	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCTTGGAGGCGTCCACGCCG	0.617000														25			12		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76888847	76888847	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:76888847C>T	uc004ecp.4	-	18	5214	c.4982G>A	c.(4981-4983)cGt>cAt	p.R1661H	ATRX_uc004ecq.4_Missense_Mutation_p.R1623H|ATRX_uc004eco.4_Missense_Mutation_p.R1446H	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1661	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCCTGAGGACGTTTCACAGT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							114			4		0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67358664	67358664	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:67358664C>T	uc002aqj.3	+	0	470	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	58	MH1.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CATCACCACGCAGAACGTCAA	0.677000														12			7		0	0	1	0	0
OR4F15	390649	broad.mit.edu	37	15	102359272	102359272	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:102359272A>G	uc010uts.2	+	0	883	c.883A>G	c.(883-885)Aaa>Gaa	p.K295E		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAAAGACATGAAAGTGGCAAT	0.383000														105			4		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27423863	27423863	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:27423863C>T	uc002hdt.1	-	27	4459	c.4301G>A	c.(4300-4302)cGa>cAa	p.R1434Q	MYO18A_uc010wbc.1_Missense_Mutation_p.R976Q|MYO18A_uc002hds.2_Missense_Mutation_p.R976Q|MYO18A_uc010csa.1_Missense_Mutation_p.R1434Q|MYO18A_uc002hdu.1_Missense_Mutation_p.R1434Q|MYO18A_uc010wbd.1_Missense_Mutation_p.R1103Q	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1434					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AGCCGTCAGTCGCTGGCACTT	0.617000														41			3		0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113825669	113825669	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:113825669C>A	uc001tve.2	+	10	1595	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	PLBD2_uc001tvf.2_Missense_Mutation_p.F488L	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	520					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCTACCCCTTCCAGGCCCTGC	0.632000														20			15		2.5808e-16	2.67076e-16	1	1	0
S1PR4	8698	broad.mit.edu	37	19	3179323	3179323	+	Missense_Mutation	SNP	T	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:3179323T>G	uc002lxg.3	+	0	588	c.533T>G	c.(532-534)aTg>aGg	p.M178R		NM_003775	NP_003766	O95977	S1PR4_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.	178					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CTGCTGGGGATGCTGCCTTTG	0.667000														66			5		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58711065	58711065	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:58711065C>T	uc001nnh.2	+	1	124	c.74C>T	c.(73-75)gCg>gTg	p.A25V	GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	tccccaggagcgcgaagtgaa	0.443000														65			45		0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42619597	42619597	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42619597T>C	uc001zpi.3	+	12	1771	c.1457T>C	c.(1456-1458)gTc>gCc	p.V486A		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	486					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AATCCCAAGGTCAGAGAGTGG	0.423000														301			8		0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28110079	28110079	+	Missense_Mutation	SNP	C	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:28110079C>G	uc001msc.2	-	5	1071	c.889G>C	c.(889-891)Gat>Cat	p.D297H		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	297					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						ACCTTTGAATCTGCTAAGGCA	0.328000														54			12		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31484520	31484520	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:31484520C>T	uc002rnu.3	+	4	1629	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	341					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding	p.G340D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GATCTATGGCCGGATCGAGCG	0.572000														8			22		0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923133	18923133	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:18923133C>T	uc002gut.1	+	12	1607	c.1566C>T	c.(1564-1566)gcC>gcT	p.A522A	SLC5A10_uc002gur.1_Silent_p.A476A|SLC5A10_uc002guu.1_Silent_p.A506A|SLC5A10_uc002guv.1_Silent_p.A479A|SLC5A10_uc010vyl.1_Silent_p.A470A	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	506			A -> V (in dbSNP:rs12604020).		sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CGCGGCCAGCCGTCCTGGGGA	0.657000														33			6		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5436264	5436264	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:5436264G>A	uc002gci.3	-	10	3729	c.3174C>T	c.(3172-3174)tgC>tgT	p.C1058C	NLRP1_uc002gcg.1_Silent_p.C1062C|NLRP1_uc002gch.4_Silent_p.C1058C|NLRP1_uc002gck.3_Silent_p.C1058C|NLRP1_uc002gcj.3_Silent_p.C1028C|NLRP1_uc002gcl.3_Silent_p.C1028C|NLRP1_uc010clh.3_Silent_p.C1058C	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1058					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAGAAGGCACGCACAAGAGTT	0.607000														10			36		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78320904	78320904	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:78320904C>T	uc002jyh.2	+	29	9059	c.8916C>T	c.(8914-8916)ctC>ctT	p.L2972L	RNF213_uc021uen.1_Silent_p.L2923L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGACATCCTCGTCCAGGACC	0.557000														24			15		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81637207	81637207	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:81637207G>A	uc021ssk.1	-	12	1418	c.1418C>T	c.(1417-1419)aCc>aTc	p.T473I	TMC3_uc021ssj.1_Missense_Mutation_p.T473I|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.T473I	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	473						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGAAATGCTGGTCTCTTCCAA	0.512000														182			43		0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49304966	49304966	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:49304966G>T	uc001zxe.2	-	11	1874	c.1610C>A	c.(1609-1611)cCt>cAt	p.P537H	SECISBP2L_uc001zxd.2_Missense_Mutation_p.P492H|SECISBP2L_uc010bep.2_Missense_Mutation_p.P299H	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	537										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTTGGTTAAAGGTTTTCTATT	0.353000														92			30		3.73148e-12	3.83648e-12	1	1	0
HDX	139324	broad.mit.edu	37	X	83599463	83599463	+	Silent	SNP	A	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:83599463A>C	uc011mqv.2	-	6	1702	c.1455T>G	c.(1453-1455)acT>acG	p.T485T	HDX_uc004eel.2_Silent_p.T427T|HDX_uc004eek.2_Silent_p.T485T	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	485						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCCCAATCCAAGTCTTTATAA	0.373000														106			8		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889371	23889371	+	Silent	SNP	A	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:23889371A>T	uc001ywj.4	-	0	3623	c.3519T>A	c.(3517-3519)ccT>ccA	p.P1173P		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCTCAGTGTAAGGGATTCGCC	0.507000														74			13		0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21834651	21834651	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:21834651G>A	uc001wao.2	-	7	1332	c.993C>T	c.(991-993)gaC>gaT	p.D331D		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	331					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTTTAACCACGTCCATGACAG	0.353000														108			35		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133953625	133953625	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:133953625C>T	uc003ytw.3	+	25	5112	c.5071C>T	c.(5071-5073)Cgc>Tgc	p.R1691C	TG_uc010mdw.3_Missense_Mutation_p.R450C|TG_uc011ljb.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1691					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACTTCAGAAACGCTTTGAACC	0.463000														101			29		0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102516466	102516466	+	Silent	SNP	C	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:102516466C>G	uc002cdi.3	+	10	2212	c.792C>G	c.(790-792)tcC>tcG	p.S264S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.S463S(2)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						ACTGGGAATCCTAGGGGGCTC	0.642000														138			9		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124057337	124057337	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:124057337C>T	uc001lgc.1	+	7	896	c.645C>T	c.(643-645)taC>taT	p.Y215Y	BTBD16_uc001lgd.1_Silent_p.Y214Y	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	215										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AGAAATTCTACGAGGCCGGCT	0.567000														19			27		0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106070529	106070529	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:106070529G>A	uc004emo.3	+	6	1330	c.1165G>A	c.(1165-1167)Gga>Aga	p.G389R	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Missense_Mutation_p.G389R|TBC1D8B_uc004emn.3_Missense_Mutation_p.G389R	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	389						intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCTCAGATGCGGAGCAGCTTC	0.373000														233			10		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69380981	69380981	+	Missense_Mutation	SNP	G	A	A	rs142064557	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:69380981G>A	uc010lyz.3	+	3	953	c.662G>A	c.(661-663)cGt>cAt	p.R221H	C8orf34_uc010lyy.2_Missense_Mutation_p.R221H|C8orf34_uc003xyb.3_Missense_Mutation_p.R110H	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	135					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCACAAAGCCGTGATTTTGAT	0.378000														64			14		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10794618	10794618	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10794618C>T	uc002mpn.3	+	16	2348	c.2031C>T	c.(2029-2031)taC>taT	p.Y677Y	ILF3_uc010xli.1_Silent_p.Y275Y|ILF3_uc002mpm.2_Silent_p.Y681Y|ILF3_uc002mpl.2_Silent_p.Y677Y|ILF3_uc002mpk.2_Silent_p.Y677Y|ILF3_uc002mpo.3_Silent_p.Y681Y|ILF3_uc002mpp.3_Silent_p.Y502Y|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	677	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCTATGGGTACGGAGGCAACT	0.582000														24			15		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8592315	8592315	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:8592315C>T	uc002mkg.3	-	21	2519	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	794						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.G793W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CACTTTCTCTCGCCCAATCAC	0.562000														98			17		0	0	1	0	0
GPR137C	283554	broad.mit.edu	37	14	53100600	53100600	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:53100600G>A	uc001wzt.4	+	6	1096	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	GPR137C_uc001wzu.4_Missense_Mutation_p.D350N	NM_001099652	NP_001093122	Q8N3F9	G137C_HUMAN	Homo sapiens G protein-coupled receptor 137C (GPR137C), mRNA.	350						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					TTACTTTTTCGACAATCCAAG	0.393000														141			7		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26422449	26422449	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:26422449C>T	uc003abz.1	+	42	6759	c.6509C>T	c.(6508-6510)tCg>tTg	p.S2170L	MYO18B_uc003aca.1_Missense_Mutation_p.S2051L|MYO18B_uc010guy.1_Missense_Mutation_p.S2052L|MYO18B_uc010guz.1_Missense_Mutation_p.S2050L|MYO18B_uc011aka.1_Missense_Mutation_p.S1324L|MYO18B_uc011akb.1_Missense_Mutation_p.S1683L|MYO18B_uc010gva.1_Missense_Mutation_p.S153L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2170						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGACCCAGTCGGCATTGGCA	0.507000														32			24		0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97014212	97014212	+	Missense_Mutation	SNP	T	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:97014212T>A	uc001yfq.3	+	15	1695	c.1478T>A	c.(1477-1479)cTc>cAc	p.L493H	PAPOLA_uc001yfr.3_Missense_Mutation_p.L493H|PAPOLA_uc010twv.2_Missense_Mutation_p.L493H|PAPOLA_uc010avp.3_Missense_Mutation_p.L243H	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	493					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGAAAGCAACTCCATCAACTA	0.308000														172			4		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107105260	107105260	+	Missense_Mutation	SNP	C	T	T	rs76703390	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:107105260C>T	uc001tlt.3	+	9	1131	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.R322W|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Missense_Mutation_p.R331W|RFX4_uc001tlv.3_Missense_Mutation_p.R228W	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	322	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AATTCTGAGACGGCAAACATC	0.408000														89			4		0	0	1	0	0
NTF4	4909	broad.mit.edu	37	19	49564657	49564657	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:49564657C>T	uc002pmf.4	-	1	734	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.V200I	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	200					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGTGTGCAGACGCAGGCAGTG	0.602000														34			36		0	0	1	0	0
FAM108A1	81926	broad.mit.edu	37	19	1881247	1881247	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:1881247C>T	uc002luf.3	-	1	725	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	FAM108A1_uc002lud.3_Missense_Mutation_p.V107M|FAM108A1_uc002lue.3_Missense_Mutation_p.V107M|FAM108A1_uc002lug.3_Missense_Mutation_p.V107M	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	95						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCACCAGGCACGCAGCGAACA	0.657000														85			42		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047389	160047389	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:160047389G>A	uc003lym.1	-	14	3228	c.2381C>T	c.(2380-2382)tCg>tTg	p.S794L	ATP10B_uc010jit.1_Missense_Mutation_p.S111L|ATP10B_uc003lyn.3_Missense_Mutation_p.S352L	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	794					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGATGACCGAGTCAGCACC	0.537000														68			29		0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337345	13337345	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:13337345G>A	uc010ned.3	-	0	1174	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	237					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.R237H(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GTTTCTTGGCGGCTTAGTTCA	0.423000														67			55		0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77228770	77228770	+	Silent	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:77228770C>A	uc002fez.3	+	3	1344	c.1014C>A	c.(1012-1014)gcC>gcA	p.A338A	MON1B_uc010vnf.2_Silent_p.A229A|MON1B_uc010vng.2_Silent_p.A192A|MON1B_uc002ffa.3_Silent_p.A218A	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	338							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TTTTCTACGCCTACGTGGCCC	0.637000														26			3		0.115264	0.115385	1	1	0
PPM1B	5495	broad.mit.edu	37	2	44428691	44428691	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:44428691G>A	uc002rtt.3	+	1	781	c.353G>A	c.(352-354)cGt>cAt	p.R118H	PPM1B_uc002rts.3_Missense_Mutation_p.R118H|PPM1B_uc002rtu.3_Missense_Mutation_p.R118H|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.R118H|PPM1B_uc002rtx.3_Missense_Mutation_p.R118H	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	118					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAATACATGCGTAACTTTTCA	0.398000														53			39		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5951002	5951002	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:5951002C>T	uc001alq.2	-	16	2498	c.2230G>A	c.(2230-2232)Gtg>Atg	p.V744M	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	744					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGTCTGCACGGCCAGGTAG	0.622000														16			78		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155487081	155487081	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155487081C>T	uc003ioa.4	+	1	275	c.236C>T	c.(235-237)gCt>gTt	p.A79V	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	79			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCCAAAGCAGCTGCCACTCAA	0.577000														69			23		0	0	1	0	0
TMEM205	374882	broad.mit.edu	37	19	11453630	11453630	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11453630C>T	uc002mra.2	-	3	738	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	TMEM205_uc002mrb.2_Missense_Mutation_p.R144Q|TMEM205_uc002mqz.2_Missense_Mutation_p.R144Q	NM_033408	NP_940938	Q6UW68	TM205_HUMAN	Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.	144						integral to membrane				endometrium(1)|lung(1)	2						GTCCTTCTCTCGCAGCTGGCG	0.622000														43			54		0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669271	99669271	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:99669271G>A	uc003uss.3	-	2	1175	c.857C>T	c.(856-858)aCg>aTg	p.T286M	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Missense_Mutation_p.T279M|ZNF3_uc010lgj.3_Missense_Mutation_p.T243M|ZNF3_uc003usr.3_Missense_Mutation_p.T279M|ZNF3_uc003ust.4_Missense_Mutation_p.T279M			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	279					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTTCTCCCCCGTGTGGATCCT	0.502000														43			27		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49940431	49940431	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49940431G>A	uc003cxy.4	-	0	876	c.612C>T	c.(610-612)gaC>gaT	p.D204D	MST1R_uc011bdc.2_Silent_p.D204D|MST1R_uc011bdd.2_Silent_p.D204D|MST1R_uc011bde.1_Silent_p.D204D|MST1R_uc011bdf.1_Silent_p.D204D|MST1R_uc011bdg.2_Silent_p.D204D	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	204	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCACGGCTGCGTCCAGTGAGG	0.622000														26			20		0	0	1	0	0
C2orf63	130162	broad.mit.edu	37	2	55408743	55408743	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:55408743G>A	uc002ryi.2	-	9	1490	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Missense_Mutation_p.R260W	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	382							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			AAATCTAACCGTTTTTCTGAT	0.343000														68			33		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38061706	38061706	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38061706T>C	uc003atm.1	+	1	772	c.719T>C	c.(718-720)cTg>cCg	p.L240P	SH3BP1_uc003atj.1_Missense_Mutation_p.L549P	NM_020315	NP_064711	Q9Y3L3	3BP1_HUMAN	Homo sapiens pyridoxal (pyridoxine, vitamin B6) phosphatase (PDXP), mRNA.	0	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGTGACCGCCTGGAGACCGAC	0.642000														48			8		0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226231	79226231	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79226231G>A	uc002jzz.1	-	12	2084	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	SLC38A10_uc002jzy.1_Missense_Mutation_p.A488V|SLC38A10_uc002kab.3_Missense_Mutation_p.A570V	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	570					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAGATCACCCGCCTCCTCCAA	0.622000														6			36		0	0	1	0	0
JMJD4	65094	broad.mit.edu	37	1	227921193	227921193	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:227921193G>A	uc001hrb.3	-	3	882	c.882C>T	c.(880-882)ggC>ggT	p.G294G	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|SNAP47_uc001hqx.4_Non-coding_Transcript|SNAP47_uc001hqy.4_Non-coding_Transcript|JMJD4_uc001hrc.3_Silent_p.G294G	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.	294	JmjC.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CCAAGGGTGGGCCAGCAAGCT	0.642000														9			37		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65721060	65721060	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65721060C>T	uc001ogk.1	+	5	1203	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Non-coding_Transcript	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	392								p.R362R(1)		endometrium(2)|kidney(3)|lung(9)	14						GGCCTGGGAGCGGCAGCGGCA	0.697000														2			7		0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51646040	51646040	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51646040G>A	uc002pvv.1	+	0	483	c.414G>A	c.(412-414)caG>caA	p.Q138Q	SIGLEC7_uc002pvw.1_Silent_p.Q138Q|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Silent_p.Q138Q	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	138					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		AATATGACCAGCTCTCTGTGA	0.483000														31			23		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044473	56044473	+	Silent	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:56044473A>G	uc003pcs.3	-	2	775	c.543T>C	c.(541-543)gcT>gcC	p.A181A	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Silent_p.A181A|COL21A1_uc003pcu.1_Silent_p.A181A	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	181	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGTTGGCAATAGCTCTAAGTT	0.383000														137			4		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117491	117491	+	RNA	SNP	G	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrGL000205.1:117491G>C	uc002kgk.4	+	0		c.869G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGCAGGTGGGCAGTGGCTAC	0.582000														17			7		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120150093	120150093	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:120150093T>C	uc001txj.2	-	36	4800	c.4744A>G	c.(4744-4746)Acc>Gcc	p.T1582A	CIT_uc001txh.2_Missense_Mutation_p.T1059A|CIT_uc001txi.2_Missense_Mutation_p.T1540A	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1540					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AAGTAGAGGGTTCTCCCGGGC	0.532000														36			15		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140209042	140209042	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140209042G>A	uc003lho.2	+	0	1393	c.1366G>A	c.(1366-1368)Gcg>Acg	p.A456T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.A456T|PCDHAC2_uc011dab.2_Missense_Mutation_p.A456T	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	470	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCGA	0.657000														120			4		0	0	1	0	0
GPR65	8477	broad.mit.edu	37	14	88477823	88477823	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88477823G>A	uc021rxh.1	+	0	632	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	GPR65_uc001xvv.3_Missense_Mutation_p.R211Q	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	211					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CAAGCTGTGCGGCACAATAAA	0.423000														67			13		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6733232	6733232	+	Silent	SNP	G	A	A	rs77003966	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:6733232G>A	uc002mfp.3	-	8	850	c.804C>T	c.(802-804)tcC>tcT	p.S268S	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	268						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAAGCAGGCGGACATGACCA	0.627000														41			9		0	0	1	0	0
WBP4	11193	broad.mit.edu	37	13	41657033	41657033	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:41657033C>T	uc001uxt.3	+	9	1227	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	WBP4_uc010tfd.2_Nonsense_Mutation_p.R351*	NM_007187	NP_009118	O75554	WBP4_HUMAN	Homo sapiens WW domain binding protein 4 (formin binding protein 21) (WBP4), mRNA.	372					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		TTTAAGGCAACGAGGTGATGA	0.378000														12			33		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823453	97823453	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:97823453G>A	uc003upd.2	+	10	3969	c.3676G>A	c.(3676-3678)Gct>Act	p.A1226T		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1226					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CTGCACCCTCGCTTCCACGGG	0.607000														30			9		0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135919149	135919149	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:135919149G>A	uc004ccj.4	+	2	745	c.408G>A	c.(406-408)acG>acA	p.T136T	GTF3C5_uc010mzz.2_Silent_p.T11T|GTF3C5_uc004cci.4_Silent_p.T136T	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	136						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		CTGTGCATACGGAAGCAGGCG	0.567000														20			18		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100198383	100198383	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:100198383G>A	uc011kjz.1	+	9	1786	c.1718G>A	c.(1717-1719)cGc>cAc	p.R573H	FBXO24_uc003uvm.1_Missense_Mutation_p.R535H|FBXO24_uc003uvn.1_Missense_Mutation_p.R173H|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.R523H|LOC100129845_uc022air.1_Non-coding_Transcript|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	535						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTGCAGGACCGCACGGAGAAG	0.642000														65			37		0	0	1	0	0
OR5AU1	390445	broad.mit.edu	37	14	21623218	21623218	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:21623218G>A	uc010tlp.2	-	0	967	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R323H(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		GCAACTGTGCGGTCCTGGGTC	0.498000														117			35		0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61906227	61906227	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:61906227G>A	uc001nsw.1	+	5	1360	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	INCENP_uc009ynw.1_Silent_p.A386A|INCENP_uc001nsx.1_Silent_p.A386A	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	386					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AGCCTGTGGCGGCAGCTGAGC	0.637000														18			8		0	0	1	0	0
SGTA	6449	broad.mit.edu	37	19	2757763	2757763	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:2757763G>A	uc002lwi.1	-	9	902	c.755C>T	c.(754-756)tCg>tTg	p.S252L		NM_003021	NP_003012	O43765	SGTA_HUMAN	Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha (SGTA), mRNA.	252					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCCACCCGAAATCATGCC	0.667000														39			18		0	0	1	0	0
WDR74	54663	broad.mit.edu	37	11	62601996	62601996	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:62601996G>A	uc001nvm.2	-	7	790	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	STX5_uc001nvh.3_5'Flank|STX5_uc010rmj.2_5'Flank|STX5_uc010rmi.2_5'Flank|WDR74_uc001nvl.2_Missense_Mutation_p.R208C|WDR74_uc009yoi.2_Missense_Mutation_p.R208C	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	Homo sapiens WD repeat domain 74 (WDR74), mRNA.	208						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TCATAAACACGGACCTAGAGG	0.572000														21			11		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129216676	129216676	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:129216676G>A	uc010qun.2	+	44	4627	c.4563G>A	c.(4561-4563)acG>acA	p.T1521T	DOCK1_uc001ljt.3_Silent_p.T1500T|DOCK1_uc009yaq.3_Silent_p.T495T	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1500	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TGCAGCTGACGAACGACAAGA	0.597000														6			15		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891522	11891522	+	Missense_Mutation	SNP	T	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11891522T>G	uc010dyj.3	+	3	1077	c.883T>G	c.(883-885)Ttt>Gtt	p.F295V	ZNF441_uc002msn.4_Missense_Mutation_p.F251V	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTTGGAAGCTTTCAAAGACA	0.393000														101			5		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220435086	220435086	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:220435086C>T	uc010fwk.3	-	0	1183	c.869G>A	c.(868-870)cGc>cAc	p.R290H	OBSL1_uc010fwl.2_Missense_Mutation_p.R290H|OBSL1_uc002vmi.3_Missense_Mutation_p.R290H|INHA_uc002vmk.2_5'Flank	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	290	Ig-like 3.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GAGGCGGCGGCGGTCCGGGAG	0.682000														4			16		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8485823	8485823	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:8485823C>T	uc003zkk.3	-	27	3737	c.2994G>A	c.(2992-2994)acG>acA	p.T998T	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	998	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCCCTTTGCTCGTATGAGCAC	0.493000										TSP Lung(15;0.13)				90			30		0	0	1	0	0
HIST1H3C	8352	broad.mit.edu	37	6	26045706	26045706	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:26045706C>T	uc003nfv.3	+	0	68	c.68C>T	c.(67-69)aCt>aTt	p.T23I	HIST1H2BB_uc003nfu.3_5'Flank	NM_003531	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA.	23					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						CAGCTTGCTACTAAAGCAGCC	0.587000														16			19		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14724594	14724594	+	Missense_Mutation	SNP	G	A	A	rs145497672		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:14724594G>A	uc003byy.3	+	2	826	c.374G>A	c.(373-375)cGt>cAt	p.R125H	C3orf20_uc003byz.3_Missense_Mutation_p.R3H|C3orf20_uc003bza.3_Missense_Mutation_p.R3H|C3orf20_uc003byx.2_Missense_Mutation_p.R125H	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	125						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ACCATGGCCCGTCAGGTGCGC	0.622000														94			65		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17503472	17503472	+	Missense_Mutation	SNP	G	A	A	rs148435996	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:17503472G>A	uc003wxv.3	-	14	4250	c.3776C>T	c.(3775-3777)tCg>tTg	p.S1259L	MTUS1_uc003wxt.3_Missense_Mutation_p.S506L|MTUS1_uc011kyg.2_Missense_Mutation_p.S404L|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.S1205L|MTUS1_uc003wxs.3_Missense_Mutation_p.S425L	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	1259						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GAAGGAGCCCGAATTCCTTGG	0.552000														32			22		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21474920	21474920	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:21474920C>T	uc002kuq.3	+	43	5597	c.5511C>T	c.(5509-5511)ggC>ggT	p.G1837G	LAMA3_uc002kur.3_Silent_p.G1837G|LAMA3_uc002kus.4_Silent_p.G228G|LAMA3_uc002kut.4_Silent_p.G228G|Mir_548_uc021uif.1_5'Flank	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1837	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACCATGGGCGAGCAGCTCC	0.622000														54			11		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38153951	38153951	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:38153951C>T	uc003atr.3	+	15	6290	c.6019C>T	c.(6019-6021)Cgc>Tgc	p.R2007C	TRIOBP_uc003atu.3_Missense_Mutation_p.R1835C|TRIOBP_uc003atv.3_Missense_Mutation_p.R294C|TRIOBP_uc003atw.3_Missense_Mutation_p.R294C|TRIOBP_uc003atx.1_5'UTR|TRIOBP_uc010gxh.3_5'UTR	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	2007					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGAGGGGCCGCGCCGGGGCCT	0.682000														54			34		0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70695777	70695777	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:70695777C>T	uc001jou.3	+	10	1644	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C		NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	513	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TACTTTTAAACGTGTAGGTGT	0.279000														4			4		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41767668	41767668	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:41767668G>A	uc003ori.3	-	5	1792	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	524					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	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)			TTGGATTTTCGTCGTTTGCCT	0.433000														185			7		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73988139	73988139	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:73988139C>T	uc010rrj.2	-	8	1269	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.R409H			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	409						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					GGCAGCAATGCGGTGGTTGAG	0.522000														77			4		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045674	53045674	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:53045674C>T	uc001sat.3	-	0	286	c.253G>A	c.(253-255)Gcc>Acc	p.A85T		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	85	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		ccaccagcggcgccaaagcca	0.622000														26			4		0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142661564	142661564	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:142661564C>T	uc003lnd.3	-	8	3218	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	NR3C1_uc003lmy.3_Missense_Mutation_p.D743N|NR3C1_uc003lmz.3_Missense_Mutation_p.D407N|NR3C1_uc003lna.3_Intron|NR3C1_uc003lnb.3_Missense_Mutation_p.D742N|NR3C1_uc011dbk.2_Missense_Mutation_p.D345N|NR3C1_uc003lnf.3_Missense_Mutation_p.D743N|NR3C1_uc003lne.3_Missense_Mutation_p.D742N|NR3C1_uc003lnc.3_Missense_Mutation_p.D742N	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	742	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	ATGGTCTTATCCAAAAATGTT	0.358000														72			33		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587215	247587215	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:247587215G>A	uc001icr.3	+	4	608	c.470G>A	c.(469-471)cGt>cAt	p.R157H	NLRP3_uc001ics.3_Missense_Mutation_p.R157H|NLRP3_uc001icu.3_Missense_Mutation_p.R157H|NLRP3_uc001icw.3_Missense_Mutation_p.R157H|NLRP3_uc001icv.3_Missense_Mutation_p.R157H|NLRP3_uc010pyw.2_Missense_Mutation_p.R155H|NLRP3_uc001ict.1_Missense_Mutation_p.R155H	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	157					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.R157H(4)|p.R157C(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAATGCCCGTCTGGGTGAG	0.522000														15			47		0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51064679	51064679	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:51064679G>A	uc003bna.4	-	4	886	c.624C>T	c.(622-624)ggC>ggT	p.G208G	ARSA_uc021wsd.1_Silent_p.G294G|ARSA_uc021wse.1_Silent_p.G294G|ARSA_uc021wsf.1_Silent_p.G294G|ARSA_uc003bmz.4_Silent_p.G292G	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	292						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	p.D207N(1)		endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CGGAGCAGCCGCCTCGGGACA	0.652000														27			3		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6650025	6650025	+	Missense_Mutation	SNP	G	A	A	rs146184962	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:6650025G>A	uc001mem.1	-	12	5599	c.5198C>T	c.(5197-5199)aCg>aTg	p.T1733M		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1733	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGACATGCGTTAACTGAGG	0.557000														51			20		0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74988453	74988453	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:74988453C>T	uc001owe.2	-	8	882	c.658G>A	c.(658-660)Gtc>Atc	p.V220I	ARRB1_uc001owf.2_Missense_Mutation_p.V220I	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	220					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TTGTTGGTGACGTGGACGTTG	0.547000														42			47		0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6435610	6435610	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:6435610T>C	uc001qnr.3	+	13	1689	c.1541T>C	c.(1540-1542)cTg>cCg	p.L514P	PLEKHG6_uc010sew.2_Missense_Mutation_p.L514P|PLEKHG6_uc010sex.2_Missense_Mutation_p.L482P	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	514					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTACAGAAGCTGAAGGCAGAG	0.557000														62			5		0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	70080718	70080718	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:70080718G>A	uc004dyl.3	-	5	520	c.358C>T	c.(358-360)Cga>Tga	p.R120*	TEX11_uc004dym.3_Nonsense_Mutation_p.R105*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	120							protein binding	p.R105R(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					ATAATCAGTCGTTGAATACTT	0.363000														97			54		0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980419	67980419	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:67980419G>A	uc010vkj.1	-	16	2405	c.2365C>T	c.(2365-2367)Cgg>Tgg	p.R789W	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.R781W|SLC12A4_uc010vkh.1_Missense_Mutation_p.R756W|SLC12A4_uc002euz.2_Missense_Mutation_p.R787W|SLC12A4_uc010vki.1_Missense_Mutation_p.R787W|SLC12A4_uc002eva.2_Missense_Mutation_p.R787W|SLC12A4_uc010cev.1_Intron	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	787					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652000														1			5		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19921161	19921161	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:19921161G>A	uc003cbl.4	-	12	2660	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	EFHB_uc003cbm.3_Missense_Mutation_p.R692W	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	822					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCTGCATGCCGTAGCTCATCT	0.343000														118			16		0	0	1	0	0
KIR3DL3	115653	broad.mit.edu	37	19	55239156	55239156	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:55239156G>A	uc002qgu.1	+	3	453	c.435G>A	c.(433-435)tgG>tgA	p.W145*		NM_153443	NP_703144	Q8N743	KI3L3_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA.	145	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGCAATGTTGGTCAGATGTCA	0.572000														2			17		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137712006	137712006	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:137712006G>T	uc004cfe.3	+	57	4873	c.4491G>T	c.(4489-4491)caG>caT	p.Q1497H	BC058547_uc004cff.3_Non-coding_Transcript	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1497	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CGGGTGAACAGGGTGAGAAGG	0.622000														31			14		4.36969e-10	4.47328e-10	1	1	0
TRIM25	7706	broad.mit.edu	37	17	54985879	54985879	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:54985879C>T	uc002iut.3	-	1	703	c.643G>A	c.(643-645)Ggg>Agg	p.G215R	TRIM25_uc010dcj.3_Missense_Mutation_p.G7R	NM_005082	NP_005073	Q14258	TRI25_HUMAN	Homo sapiens tripartite motif containing 25 (TRIM25), mRNA.	215	Interaction with influenza A virus NS1.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	p.G215A(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTCGACGCCCCGTTGATCTGA	0.582000														17			12		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155163876	155163876	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:155163876C>T	uc003inw.2	-	21	5625	c.5625G>A	c.(5623-5625)acG>acA	p.T1875T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1875	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGATTACAGTCGTATTAGAAA	0.408000														78			3		0	0	1	0	0
IGSF5	150084	broad.mit.edu	37	21	41151173	41151173	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr21:41151173G>A	uc002yyo.3	+	4	978	c.875G>A	c.(874-876)cGt>cAt	p.R292H		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	292	Cys-rich.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				tgctgccgccgtcgttgttgt	0.463000														11			37		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554924	44554924	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:44554924C>T	uc010xdb.2	-	0	1526	c.1290G>A	c.(1288-1290)gtG>gtA	p.V430V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	430	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTTTCGTGGTCACTACTCGCA	0.567000														119			5		0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76024631	76024631	+	Silent	SNP	C	T	T	rs139627347		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:76024631C>T	uc003ufb.3	-	6	1233	c.885G>A	c.(883-885)acG>acA	p.T295T	SRCRB4D_uc003ufa.3_5'Flank|ZP3_uc003ufc.4_5'Flank	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	295						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GTGCTGTGAGCGTTGGGGGAC	0.622000														45			4		0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114607065	114607065	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:114607065G>A	uc003kqz.2	-	6	1395	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	CCDC112_uc003kqy.2_Missense_Mutation_p.R310C|CCDC112_uc003kra.2_Missense_Mutation_p.R393C	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	310								p.Q392Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTAAACTGGCGCTGGCGTTCT	0.358000														110			29		0	0	1	0	0
OXER1	165140	broad.mit.edu	37	2	42990143	42990143	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:42990143G>A	uc002rss.3	-	0	1259	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	393					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						TCCCGGTAGCGCCACTGCCTG	0.677000														10			38		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142477562	142477562	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:142477562G>A	uc003ywi.2	-	17	2340	c.2259C>T	c.(2257-2259)cgC>cgT	p.R753R	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	753							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGCCTGCACGCGGAAGGGGC	0.667000														53			20		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956478	1956478	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:1956478C>T	uc001aip.2	+	1	261	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	56						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCGCAACTTCCGGCCTGGCAT	0.682000														8			49		0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19707904	19707904	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:19707904G>A	uc002zpv.2	+	5	549	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	SEPT5_uc002zpw.1_Missense_Mutation_p.G151S|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	142					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TGATGAGAGCGGCCTCAACCG	0.597000														139			29		0	0	1	0	0
FOXN3	1112	broad.mit.edu	37	14	89817014	89817014	+	Splice_Site	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:89817014A>G	uc001xxo.4	-	3	817	c.680_splice	c.e3+1	p.S227_splice	FOXN3_uc001xxn.4_Splice_Site_p.S227_splice|FOXN3_uc010atk.3_Splice_Site_p.S227_splice	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	227					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus 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			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGAATTGCTTACCTTTGATAT	0.393000														187			6		0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88945933	88945933	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:88945933C>T	uc001xwv.4	-	12	2173	c.1842G>A	c.(1840-1842)gcG>gcA	p.A614A	PTPN21_uc010twc.2_Silent_p.A410A	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	614						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCAGCGAGTGCGCCACGGGCA	0.687000														20			7		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187629557	187629557	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:187629557G>A	uc003izf.3	-	1	1613	c.1425C>T	c.(1423-1425)aaC>aaT	p.N475N	FAT1_uc010iso.1_Silent_p.N475N	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	475	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAATGGGCACGTTCTCATCAA	0.473000										HNSCC(5;0.00058)				27			17		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147527114	147527114	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:147527114G>A	uc003qlz.3	+	1	333	c.158G>A	c.(157-159)cGc>cAc	p.R53H	LOC729178_uc003qlt.2_5'Flank|LOC729178_uc003qlu.1_5'Flank|STXBP5_uc010khz.2_Missense_Mutation_p.R53H|STXBP5_uc003qly.3_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	53					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.R53H(3)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TAGACTGTTCGCCATGGATTT	0.463000														12			18		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349605	36349605	+	Splice_Site	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36349605G>A	uc002ocb.4	+	4	574	c.362_splice	c.e4-1	p.V121_splice	KIRREL2_uc002obz.4_Splice_Site_p.V121_splice|KIRREL2_uc002oca.4_Splice_Site_p.V71_splice|KIRREL2_uc002ocd.4_Splice_Site_p.V118_splice	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	121					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACCTTGCAGTCCCCCCAGA	0.627000														77			21		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76071339	76071339	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:76071339C>T	uc002jud.2	+	8	3640	c.3040C>T	c.(3040-3042)Cgc>Tgc	p.R1014C	TNRC6C_uc002juf.2_Missense_Mutation_p.R1011C|TNRC6C_uc002jue.2_Missense_Mutation_p.R1011C	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1014	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTCCGTGGACCGCCCCACCTT	0.507000														30			8		0	0	1	0	0
FAM198A	729085	broad.mit.edu	37	3	43074842	43074842	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:43074842G>A	uc003cmp.4	+	1	1463	c.1087G>A	c.(1087-1089)Ggt>Agt	p.G363S	FAM198A_uc010hii.3_Intron|FAM198A_uc003cmo.3_Non-coding_Transcript|FAM198A_uc010hih.3_Missense_Mutation_p.G336S	NM_001129908	NP_001123380	Q9UFP1	F198A_HUMAN	Homo sapiens family with sequence similarity 198, member A (FAM198A), mRNA.	363						extracellular region				endometrium(1)	1						ATACACAGACGGTGGAGCAAG	0.632000														47			32		0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24836835	24836835	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:24836835G>A	uc002zzx.3	+	4	1380	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Missense_Mutation_p.R206Q|ADORA2A_uc011ajs.2_Missense_Mutation_p.R67Q|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guq.3_Missense_Mutation_p.R206Q|ADORA2A_uc010gup.3_Missense_Mutation_p.R206Q|ADORA2A_uc003aab.3_Missense_Mutation_p.R206Q|C22orf45_uc003aad.1_Intron	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	206					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GCGGCGCGACGACAGCTGAAG	0.592000														120			24		0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194149621	194149621	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:194149621T>C	uc003fty.4	-	26	3302	c.2900A>G	c.(2899-2901)cAg>cGg	p.Q967R		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	967					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GAAGAGAAACTGGAAGTCTCC	0.294000														71			46		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88420245	88420245	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:88420245C>T	uc002bme.2	-	19	2747	c.2441G>A	c.(2440-2442)cGg>cAg	p.R814Q	NTRK3_uc002bmh.2_Missense_Mutation_p.R792Q|NTRK3_uc002bmf.2_Missense_Mutation_p.R800Q|NTRK3_uc021sua.1_Missense_Mutation_p.R792Q	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	814	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L813F(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GATGTTCAACCGCTGCTGTGG	0.547000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				69			17		0	0	1	0	0
UCP1	7350	broad.mit.edu	37	4	141481158	141481158	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:141481158T>C	uc011chj.2	-	5	892	c.816A>G	c.(814-816)gtA>gtG	p.V272V	UCP1_uc011chk.2_Silent_p.V271V	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	272					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AGAAGGAAGGTACCAACCTAG	0.413000														39			6		0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36691711	36691711	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:36691711G>A	uc002rpd.3	+	4	970	c.904G>A	c.(904-906)Gtg>Atg	p.V302M		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	302					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGGTTTCCCCGTGTGTGAGGT	0.493000														133			4		0	0	1	0	0
AICDA	57379	broad.mit.edu	37	12	8757413	8757413	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8757413C>T	uc001qur.2	-	3	612	c.533G>A	c.(532-534)cGc>cAc	p.R178H	AICDA_uc001qup.1_Missense_Mutation_p.R163H|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	178					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	p.R178C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CAAAAGGATGCGCCGAAGCTG	0.378000														63			33		0	0	1	0	0
ICAM4	3386	broad.mit.edu	37	19	10398019	10398019	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:10398019G>A	uc002mnr.2	+	0	377	c.331G>A	c.(331-333)Gcg>Acg	p.A111T	ICAM4_uc002mns.2_Missense_Mutation_p.A111T|ICAM4_uc002mnt.2_Missense_Mutation_p.A111T|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	111	Ig-like C2-type 1.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCTCCCTCGCGCACTGCCT	0.677000														56			21		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20475759	20475759	+	Splice_Site	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:20475759A>G	uc002wrz.3	-	36	5510	c.5367_splice	c.e36+1	p.E1789_splice	RALGAPA2_uc002wry.3_Splice_Site_p.E1404_splice|RALGAPA2_uc010zsg.2_Splice_Site_p.E1237_splice|RALGAPA2_uc002wsa.1_Splice_Site_p.E561_splice	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1789	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATGAAAACGTACCTCAGGTTT	0.378000														51			15		0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153795447	153795447	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:153795447C>T	uc003lvh.3	+	10	1740	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Silent_p.Y377Y|FLJ38109_uc003lvi.3_Intron	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	536	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TCACGCTGTACGACTGCCACA	0.537000														70			23		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021776	51021776	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:51021776C>T	uc002pss.3	-	2	1331	c.1194G>A	c.(1192-1194)acG>acA	p.T398T		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	398	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TGCCGTTGGGCGTCAGCCAGT	0.647000														43			3		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201029943	201029943	+	Splice_Site	SNP	C	T	T	rs1800559		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:201029943C>T	uc001gvv.3	-	26	3483	c.3256_splice	c.e26-1	p.R1086_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1086			R -> H (in MHS5; dbSNP:rs1800559).		axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.R1086H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TACACATTGGCGCTGTGACAC	0.562000														28			17		0	0	1	0	0
RNF222	643904	broad.mit.edu	37	17	8296625	8296625	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:8296625T>C	uc010vuy.1	-	2	464	c.155A>G	c.(154-156)gAt>gGt	p.D52G	RNF222_uc021tqa.1_Missense_Mutation_p.D52G	NM_001146684	NP_001140156	A6NCQ9	RN222_HUMAN	Homo sapiens ring finger protein 222 (RNF222), mRNA.	52						integral to membrane	zinc ion binding			breast(1)	1						GACCTGCCCATCCACGCGGGT	0.637000														62			6		0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33137475	33137475	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:33137475G>A	uc002ntn.1	-	3	416	c.260C>T	c.(259-261)gCc>gTc	p.A87V	ANKRD27_uc002nto.1_Missense_Mutation_p.A87V	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	87					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GAGAAGACAGGCAAAACCAGC	0.443000														98			40		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892622	11892622	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:11892622T>C	uc010dyj.3	+	3	2177	c.1983T>C	c.(1981-1983)caT>caC	p.H661H	ZNF441_uc002msn.4_Silent_p.H617H	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCATAAACATGAAAGGACCC	0.388000														35			17		0	0	1	0	0
RASA3	22821	broad.mit.edu	37	13	114780772	114780772	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:114780772C>T	uc001vui.3	-	13	1449	c.1318G>A	c.(1318-1320)Gcc>Acc	p.A440T	RASA3_uc010tkk.2_Missense_Mutation_p.A408T|RASA3_uc001vuj.3_Missense_Mutation_p.A57T	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	440	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TCAGTGATGGCGTGGAAGACG	0.647000														20			11		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401504	11401504	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:11401504G>A	uc003gmq.3	-	1	449	c.126C>T	c.(124-126)cgC>cgT	p.R42R	HS3ST1_uc021xmg.1_Silent_p.R42R	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	42						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCACGCCATCGCGGACGTCAT	0.692000														14			6		0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8902463	8902463	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:8902463C>T	uc001qux.2	+	3	1443	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	RIMKLB_uc009zgf.2_Non-coding_Transcript|RIMKLB_uc010sgl.1_Missense_Mutation_p.R61W|RIMKLB_uc001quw.2_Missense_Mutation_p.R61W	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	61					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding	p.L60M(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTCAGGTCTGCGGATCAATGG	0.408000														47			11		0	0	1	0	0
MALL	7851	broad.mit.edu	37	2	110849317	110849317	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:110849317C>A	uc002tfk.3	-	1	910	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	MALL_uc010fju.3_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	Homo sapiens mal, T-cell differentiation protein-like (MALL), mRNA.	46	MARVEL.				cholesterol homeostasis	Golgi membrane|clathrin-coated vesicle|integral to membrane|membrane raft|plasma membrane	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		TGGGTGGCGGCTACCATGGTC	0.463000														44			23		1.10513e-12	1.13746e-12	1	1	0
TMEM161B	153396	broad.mit.edu	37	5	87494939	87494939	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:87494939G>A	uc003kjc.3	-	9	1068	c.943C>T	c.(943-945)Cga>Tga	p.R315*	TMEM161B_uc011cty.2_Nonsense_Mutation_p.R304*|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctx.2_Intron	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	315						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		AACCAGAGTCGCAGAGTATCG	0.413000														71			36		0	0	1	0	0
ZBTB34	403341	broad.mit.edu	37	9	129642636	129642636	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:129642636C>T	uc022bnn.1	+	0	946	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ZBTB34_uc004bqm.4_Nonsense_Mutation_p.R316*	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GAGCTGTTTCCGAGGAGGGCG	0.547000														61			20		0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587782	110587782	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:110587782T>C	uc010mcp.3	-	7	1707	c.1345A>G	c.(1345-1347)Acc>Gcc	p.T449A	SYBU_uc003yni.4_Missense_Mutation_p.T446A|SYBU_uc003ynk.4_Missense_Mutation_p.T330A|SYBU_uc003ynj.4_Missense_Mutation_p.T449A|SYBU_uc010mco.3_Missense_Mutation_p.T448A|SYBU_uc003ynl.4_Missense_Mutation_p.T448A|SYBU_uc010mcq.3_Missense_Mutation_p.T449A|SYBU_uc003yno.4_Missense_Mutation_p.T330A|SYBU_uc010mcr.3_Missense_Mutation_p.T449A|SYBU_uc003ynm.4_Missense_Mutation_p.T448A|SYBU_uc003ynn.4_Missense_Mutation_p.T448A|SYBU_uc010mcs.3_Missense_Mutation_p.T330A|SYBU_uc010mct.3_Missense_Mutation_p.T449A|SYBU_uc010mcu.3_Missense_Mutation_p.T448A|SYBU_uc003ynp.4_Missense_Mutation_p.T381A|SYBU_uc010mcv.3_Missense_Mutation_p.T449A|SYBU_uc003ynh.4_Missense_Mutation_p.T243A|SYBU_uc011lhw.2_Missense_Mutation_p.T319A	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	449						Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCTGTGGTGGTGGCTGTCACT	0.567000														82			49		0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147011711	147011711	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:147011711G>A	uc010nst.3	+	6	807	c.578G>A	c.(577-579)cGc>cAc	p.R193H	FMR1_uc011mwz.2_Missense_Mutation_p.R193H|FMR1_uc004fcj.3_Missense_Mutation_p.R193H|FMR1_uc022cgc.1_Missense_Mutation_p.R193H|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Missense_Mutation_p.R193H|FMR1_uc022cge.1_Missense_Mutation_p.R193H|FMR1_uc022cgf.1_Missense_Mutation_p.R193H|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Missense_Mutation_p.R54H|FMR1_uc011mxa.2_5'UTR	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	193					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	p.R193H(2)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGTCTGCGCACTAAGTTG	0.408000									Fragile X syndrome					64			6		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99454671	99454671	+	Splice_Site	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:99454671G>A	uc002bul.3	+	7	1639	c.1589_splice	c.e7+1	p.A530_splice	IGF1R_uc010urq.2_Splice_Site_p.A530_splice|IGF1R_uc010bon.3_Splice_Site_p.A530_splice|IGF1R_uc010urr.1_Splice_Site	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	530	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACAAGGAAGCGTGAGTTTCTG	0.537000														43			10		0	0	1	0	0
C17orf56	146705	broad.mit.edu	37	17	79203107	79203107	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:79203107G>A	uc002jzu.2	-	11	1257	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	C17orf56_uc002jzr.2_Missense_Mutation_p.S70L|C17orf56_uc002jzs.2_Missense_Mutation_p.S316L|C17orf56_uc002jzt.2_Missense_Mutation_p.S316L|C17orf56_uc002jzv.2_Missense_Mutation_p.S248L|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	400	Pro-rich.					integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCTCCGGGACGAGACCGGGGT	0.697000														67			18		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124515406	124515406	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:124515406C>T	uc003eho.3	-	9	1819	c.1522G>A	c.(1522-1524)Gtg>Atg	p.V508M	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	508	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TTCTGGTACACGCTCTGGTTC	0.657000														36			34		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85403008	85403008	+	Splice_Site	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:85403008G>A	uc002ble.3	+	8	4739	c.4572_splice	c.e8-1	p.S1524_splice		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1524	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACTCTGCAGCGCAGGGGATGA	0.657000														57			15		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769704	57769704	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:57769704C>T	uc002yan.3	+	0	3630	c.3630C>T	c.(3628-3630)caC>caT	p.H1210H		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1210						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGCGGTGCACTTTCCTGGTA	0.642000														50			18		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647366	57647366	+	Silent	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:57647366A>G	uc002qnz.1	-	4	725	c.339T>C	c.(337-339)acT>acC	p.T113T		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTTCTGCGTAGTCAGCGTTT	0.413000														162			5		0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684294	44684294	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:44684294C>T	uc003cnm.3	+	5	1878	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	558					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TGACCATCAGCGACTCCACAG	0.428000														35			11		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91631833	91631833	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:91631833T>C	uc003ulg.3	+	7	2827	c.2602T>C	c.(2602-2604)Tat>Cat	p.Y868H	AKAP9_uc003ule.2_Missense_Mutation_p.Y880H|AKAP9_uc003ulf.3_Missense_Mutation_p.Y868H|AKAP9_uc003uli.3_Missense_Mutation_p.Y493H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	880	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAAGAGGAGTATGCTTGCCT	0.299000			T	BRAF	papillary thyroid									124			7		0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20763923	20763923	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:20763923G>A	uc001vwt.3	-	6	844	c.787C>T	c.(787-789)Cga>Tga	p.R263*	TTC5_uc001vwu.3_Nonsense_Mutation_p.R120*	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	263					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		TGTTGCTCTCGTTGCCGGGGC	0.483000														108			69		0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149212386	149212386	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:149212386G>A	uc003lrc.3	+	4	841	c.750G>A	c.(748-750)ccG>ccA	p.P250P	PPARGC1B_uc003lrb.2_Silent_p.P250P|PPARGC1B_uc003lrd.3_Silent_p.P211P|PPARGC1B_uc021yfr.1_Silent_p.P186P|PPARGC1B_uc003lre.1_Silent_p.P229P|PPARGC1B_uc003lrf.3_Silent_p.P229P	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	250					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACAAGGAGCCGGGTGAGGACT	0.682000														64			3		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21887145	21887145	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:21887145C>T	uc001bet.3	+	2	345	c.88C>T	c.(88-90)Cga>Tga	p.R30*	ALPL_uc010odo.2_5'UTR|ALPL_uc010odp.2_5'UTR|ALPL_uc010odn.2_5'UTR|ALPL_uc001beu.4_Nonsense_Mutation_p.R30*	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	30					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CAAGTACTGGCGAGACCAAGC	0.517000														28			16		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43415467	43415467	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:43415467G>A	uc003ouy.1	+	17	3966	c.3751G>A	c.(3751-3753)Gtg>Atg	p.V1251M	ABCC10_uc003ouz.1_Missense_Mutation_p.V1223M|ABCC10_uc010jyo.1_Missense_Mutation_p.V357M	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1251	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTTCCAGGACGTGGTGTTGGC	0.662000														23			14		0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27097422	27097422	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:27097422G>A	uc011lak.2	-	5	771	c.657C>T	c.(655-657)tgC>tgT	p.C219C	STMN4_uc003xfj.3_Intron|STMN4_uc011lai.2_Intron|STMN4_uc011laj.2_Intron|STMN4_uc003xfk.3_Intron|STMN4_uc010luo.3_Silent_p.C192C	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	0					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		GCAGGTCCCCGCATACTTGCT	0.532000														83			24		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22999456	22999456	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:22999456C>T	uc001yus.3	+	28	3432	c.3328C>T	c.(3328-3330)Cgc>Tgc	p.R1110C	CYFIP1_uc001yut.3_Missense_Mutation_p.R1110C|CYFIP1_uc001yuu.3_Missense_Mutation_p.R679C|CYFIP1_uc001yuv.3_Missense_Mutation_p.R304C	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	1110					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding	p.R1110C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCCCATCTGGCGCGGGCCTCT	0.592000														85			30		0	0	1	0	0
AK304826	0	broad.mit.edu	37	16	18442401	18442401	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:18442401G>A	uc010bvw.2	-	5	973	c.317C>T	c.(316-318)gCg>gTg	p.A106V	NPIP_uc021tdy.1_Intron					SubName: Full=cDNA FLJ59085, highly similar to Polycystin-1;																		TCTCCATAGCGCATAGGGGGC	0.682000														46			3		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85758218	85758218	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:85758218A>G	uc003hpd.3	-	6	848	c.440T>C	c.(439-441)aTg>aCg	p.M147T	WDFY3_uc003hpf.3_Missense_Mutation_p.M147T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	147						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.T146A(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGCACTGACATTGTTGTCAT	0.403000														139			5		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20533609	20533609	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:20533609G>A	uc003gpr.1	+	16	1820	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	SLIT2_uc003gps.1_Missense_Mutation_p.R531H	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	539					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCTTCAGGCGTCTCAATAAT	0.279000														151			56		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25341585	25341585	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:25341585G>A	uc003xep.1	+	9	1701	c.1224G>A	c.(1222-1224)ttG>ttA	p.L408L	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Silent_p.L408L|CDCA2_uc003xeq.1_Silent_p.L393L|CDCA2_uc003xer.1_Silent_p.L71L	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	408					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ATGAATCTTTGCCAGCAAATA	0.433000														39			25		0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56290442	56290442	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56290442C>T	uc002ivr.2	-	7	834	c.759G>A	c.(757-759)acG>acA	p.T253T	MKS1_uc010wnq.2_Silent_p.T50T|MKS1_uc021uam.1_Silent_p.T243T	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	253					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCTCCCCCTCCGTCTCAATCC	0.562000														10			21		0	0	1	0	0
DOLPP1	57171	broad.mit.edu	37	9	131849014	131849014	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:131849014G>A	uc004bxc.3	+	6	645	c.617G>A	c.(616-618)cGa>cAa	p.R206Q	DOLPP1_uc004bxd.3_Missense_Mutation_p.R163Q|DOLPP1_uc004bxe.3_Non-coding_Transcript	NM_020438	NP_065171	Q86YN1	DOPP1_HUMAN	Homo sapiens dolichyl pyrophosphate phosphatase 1 (DOLPP1), transcript variant 1, mRNA.	206					dolichyl diphosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane	dolichyldiphosphatase activity			endometrium(3)|kidney(2)|lung(7)|skin(1)	13						TTCCTAATCCGAGACACAAGC	0.577000														30			36		0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61818215	61818215	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:61818215C>T	uc010oos.2	+	5	1011	c.929C>T	c.(928-930)tCt>tTt	p.S310F	NFIA_uc001czy.3_Missense_Mutation_p.S257F|NFIA_uc001czw.3_Missense_Mutation_p.S265F|NFIA_uc001czv.3_Missense_Mutation_p.S265F	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	265					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ATGAGGAGGTCTTTACCCAGC	0.433000														11			56		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154197604	154197604	+	Splice_Site	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:154197604A>G	uc004fmt.3	-	7	1180	c.1009_splice	c.e7+1	p.D337_splice		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	337	F5/8 type A 1.|Plastocyanin-like 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCAAGATATTACCATGTTGGT	0.358000														40			19		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355544	45355544	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:45355544C>T	uc002xsl.3	+	2	1427	c.1330C>T	c.(1330-1332)Cga>Tga	p.R444*		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	444						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				TGTGGAGATACGAGGAAGAGC	0.592000														44			16		0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36120479	36120479	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36120479G>A	uc002oan.3	+	1	262	c.186G>A	c.(184-186)gcG>gcA	p.A62A	RBM42_uc010xsx.2_Silent_p.A62A|RBM42_uc002oap.3_Silent_p.A62A|RBM42_uc002oaq.3_Silent_p.A62A	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	62						cytoplasm|nucleus	RNA binding|nucleotide binding	p.P61L(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGTGCCTGCGGTGCCCACTG	0.592000														32			12		0	0	1	0	0
GALNT7	51809	broad.mit.edu	37	4	174169387	174169387	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:174169387G>A	uc003isz.4	+	1	466	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	128					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		CCTGTGCTTCGCCCAGGGATC	0.512000														38			18		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13592029	13592029	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:13592029G>A	uc003gmz.1	-	13	8307	c.8190C>T	c.(8188-8190)agC>agT	p.S2730S		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2730							DNA binding	p.S2730S(1)									TATAAGATTCGCTATGAATTT	0.274000														102			14		0	0	1	0	0
HOMER2	9455	broad.mit.edu	37	15	83527811	83527811	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:83527811T>C	uc002bjg.3	-	4	686	c.497A>G	c.(496-498)aAt>aGt	p.N166S	HOMER2_uc002bjh.3_Missense_Mutation_p.N155S	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	166					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						CAGCTTGTCATTCTCAGACTT	0.502000														88			6		0	0	1	0	0
GPR27	2850	broad.mit.edu	37	3	71804265	71804265	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:71804265C>T	uc011bge.2	+	0	1065	c.1065C>T	c.(1063-1065)tgC>tgT	p.C355C	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	355						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		AGTTCCCCTGCTGCCAGAGCC	0.647000														12			10		0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138287496	138287496	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:138287496G>A	uc003ldo.3	-	8	1051	c.845C>T	c.(844-846)cCg>cTg	p.P282L	SIL1_uc003ldp.3_Missense_Mutation_p.P282L|SIL1_uc003ldq.1_Missense_Mutation_p.P75L	NM_001037633	NP_071909	Q9H173	SIL1_HUMAN	Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA.	282					intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCAGTGAGCGGCTGCTCCGT	0.617000									Marinesco-Sjgren syndrome					11			18		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15063793	15063793	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:15063793C>T	uc002naa.1	-	7	1453	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S	SLC1A6_uc010dzu.1_Silent_p.S404S|SLC1A6_uc010xod.1_Silent_p.S418S	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	482					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCAAGCCGACCGACGTAAGCA	0.612000														84			17		0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39980542	39980542	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:39980542C>T	uc010ggh.3	+	7	1278	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	LPIN3_uc002xjx.3_Missense_Mutation_p.A395V|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	395					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GAGAATGCAGCGCTTTACTTC	0.597000														52			23		0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44812095	44812095	+	Missense_Mutation	SNP	C	T	T	rs61753790		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:44812095C>T	uc003joh.3	+	2	864	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W		NM_016640	NP_057724	Q9NP92	RT30_HUMAN	Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA.	276					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					ATTATTCAAACGGCAGTATGA	0.323000														179			34		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120286	64120286	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:64120286C>T	uc001nzy.3	+	19	3476	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C	CCDC88B_uc009ypo.2_Missense_Mutation_p.R1140C|CCDC88B_uc001oaa.3_Missense_Mutation_p.R295C|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.3_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	1143					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGAGCGTGAACGCCTGATGCA	0.682000														138			4		0	0	1	0	0
UBD	10537	broad.mit.edu	37	6	29524017	29524017	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:29524017C>A	uc003nmo.3	-	1	362	c.138G>T	c.(136-138)caG>caT	p.Q46H	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	46	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GAACCTGGTCCTGCACAGGAA	0.463000														54			22		4.35082e-09	4.44438e-09	1	1	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48744630	48744630	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48744630C>T	uc002xvf.3	-	4	734	c.573G>A	c.(571-573)acG>acA	p.T191T	TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvg.2_Silent_p.T191T|TMEM189-UBE2V1_uc010gif.2_Silent_p.T188T|TMEM189-UBE2V1_uc010zyp.1_Silent_p.T116T	NM_199203	NP_954673	A5PLL7	TM189_HUMAN	Homo sapiens TMEM189-UBE2V1 readthrough (TMEM189-UBE2V1), mRNA.	191						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GCCCAAAGTACGTGTGCGACC	0.587000														62			66		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96326776	96326776	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:96326776G>A	uc004atw.3	+	17	3336	c.3311G>A	c.(3310-3312)cGc>cAc	p.R1104H	FAM120A_uc004aty.3_Missense_Mutation_p.R885H|FAM120A_uc004atz.3_Missense_Mutation_p.R752H|FAM120A_uc010mrg.3_Missense_Mutation_p.R371H|FAM120A_uc004aua.1_Non-coding_Transcript	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	1104	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCGCTTGCCGCAGAGAAGCT	0.433000														84			4		0	0	1	0	0
KLHDC5	57542	broad.mit.edu	37	12	27933686	27933686	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:27933686G>A	uc001rij.3	+	0	500	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_020782	NP_065833	Q9P2K6	KLDC5_HUMAN	Homo sapiens kelch domain containing 5 (KLHDC5), mRNA.	141										breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|urinary_tract(1)	23	Lung SC(9;0.0873)					AGGTGTACGGGCTGCCCGACC	0.657000														32			12		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162206903	162206903	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:162206903C>T	uc021zhu.1	-	7	1004	c.913G>A	c.(913-915)Gtg>Atg	p.V305M	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_Missense_Mutation_p.V67M|PARK2_uc010kkd.3_Missense_Mutation_p.V67M|PARK2_uc003qtx.4_Missense_Mutation_p.V258M|PARK2_uc021zhs.1_Missense_Mutation_p.V230M|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.V230M|PARK2_uc003qtz.4_Missense_Mutation_p.V109M|PARK2_uc021zhv.1_Missense_Mutation_p.V179M|PARK2_uc021zhw.1_Missense_Mutation_p.V67M|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.V258M|PARK2_uc010kke.1_Missense_Mutation_p.V258M|PARK2_uc011egf.2_5'UTR	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	258					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R305R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		AAGCAAATCACGTGGCGGGAG	0.512000														19			22		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15818057	15818057	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:15818057G>A	uc002ddx.3	-	31	4454	c.4347C>T	c.(4345-4347)ctC>ctT	p.L1449L	MYH11_uc002ddv.3_Silent_p.L1449L|MYH11_uc002ddw.3_Silent_p.L1442L|MYH11_uc002ddy.3_Silent_p.L1442L|MYH11_uc010bvg.3_Silent_p.L1274L|NDE1_uc010uzy.2_Silent_p.T319T|NDE1_uc002dds.3_Silent_p.T319T|MYH11_uc010bvh.3_Silent_p.L148L|NDE1_uc002ddz.1_Non-coding_Transcript	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1442					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGTTGGACACGAGTTGCCGCT	0.547000			T	CBFB	AML									50			14		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208383788	208383788	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:208383788T>C	uc001hgz.3	-	2	1966	c.1208A>G	c.(1207-1209)aAc>aGc	p.N403S	PLXNA2_uc001hha.4_Missense_Mutation_p.N457S	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	403	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCCACAGAAGTTATCATCGAT	0.577000														67			4		0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18912624	18912624	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:18912624C>T	uc002zok.4	-	4	811	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	PRODH_uc002zoj.4_Missense_Mutation_p.A93T|PRODH_uc002zol.4_Missense_Mutation_p.A95T	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	203					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCCTCATTGGCGTAGAAGTAG	0.597000														66			45		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37464712	37464712	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:37464712G>A	uc003aqt.1	-	16	2185	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	TMPRSS6_uc003aqs.1_Intron	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	714	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						cacagcatccgcccgtagggc	0.493000														67			33		0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110211966	110211966	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:110211966C>T	uc001dyi.3	+	3	546	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	GSTM4_uc001dyj.3_Missense_Mutation_p.R78W|GSTM4_uc010ovt.2_Missense_Mutation_p.R78W|GSTM4_uc009wfk.3_Non-coding_Transcript	NM_000848	NP_000839	Q03013	GSTM4_HUMAN	Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA.	78	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CGCCATCCTGCGGTACATTGC	0.592000														107			4		0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65978707	65978707	+	Missense_Mutation	SNP	G	A	A	rs142653069	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:65978707G>A	uc001oha.2	+	3	771	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	PACS1_uc001ogz.1_Missense_Mutation_p.V213M	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	213				Missing (in Ref. 2; BAC04831).	interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GACCTTGGCCGTGGGACTCAT	0.527000														45			17		0	0	1	0	0
GDF7	151449	broad.mit.edu	37	2	20871061	20871061	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:20871061C>T	uc002rdz.1	+	1	1805	c.1229C>T	c.(1228-1230)gCg>gTg	p.A410V		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	Homo sapiens growth differentiation factor 7 (GDF7), mRNA.	410					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGACGCGGCGCCGGCCTCC	0.612000														64			4		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80640001	80640001	+	Missense_Mutation	SNP	G	A	A	rs149103852		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:80640001G>A	uc003khl.4	-	8	1013	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	320					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R320H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ATTCGCTTGCGTGCAATAGCT	0.358000														96			29		0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89307767	89307767	+	Splice_Site	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:89307767A>G	uc010ath.3	+	5	594	c.460_splice	c.e5-2	p.A154_splice	TTC8_uc010atg.1_Splice_Site|TTC8_uc001xxi.3_Splice_Site_p.A164_splice|TTC8_uc001xxj.3_Splice_Site_p.A154_splice|TTC8_uc001xxk.3_Intron|TTC8_uc001xxl.3_Intron|TTC8_uc010ati.3_Splice_Site|TTC8_uc010atj.3_Intron	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	164					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TTTCCTCTGTAGGCTTCCATG	0.308000														97			28		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140355132	140355132	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:140355132G>A	uc010ncj.1	-	33	4236	c.3899C>T	c.(3898-3900)gCa>gTa	p.A1300V	PNPLA7_uc004cnd.1_Missense_Mutation_p.A522V|PNPLA7_uc004cne.1_Missense_Mutation_p.A541V|PNPLA7_uc011mfa.1_Missense_Mutation_p.A683V|PNPLA7_uc004cnf.2_Missense_Mutation_p.A1275V|NELF_uc011mey.2_5'Flank|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1275					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.H1300Y(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTCTGCGTATGCATCCCTGGG	0.632000														15			19		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952190	141952190	+	Splice_Site	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:141952190C>T	uc003vxb.3	-	5	897	c.577_splice	c.e5-1	p.E193_splice	PRSS58_uc003vxc.4_Splice_Site_p.E193_splice	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	193	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GCAGAAACTTCCTGCCAGGAA	0.408000														50			29		0	0	1	0	0
EHD4	30844	broad.mit.edu	37	15	42193092	42193092	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42193092C>T	uc001zot.3	-	5	1440	c.1377G>A	c.(1375-1377)tcG>tcA	p.S459S		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	459	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CATTGATGGGCGACAGAGTGT	0.602000														119			19		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72129051	72129051	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:72129051T>C	uc003xyu.3	-	13	1876	c.1236A>G	c.(1234-1236)gcA>gcG	p.A412A	EYA1_uc003xyt.4_Silent_p.A379A|EYA1_uc003xyr.4_Silent_p.A377A|EYA1_uc010lzf.3_Silent_p.A339A|EYA1_uc003xys.4_Silent_p.A412A|EYA1_uc011lfe.2_Silent_p.A406A|EYA1_uc003xyv.3_Silent_p.A290A	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	412					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.A412T(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACTGGTTGCTGCAGCAGGAA	0.443000														80			72		0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220830	20220830	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:20220830C>T	uc001umh.3	+	2	718	c.617C>T	c.(616-618)gCc>gTc	p.A206V	MPHOSPH8_uc001umg.3_Missense_Mutation_p.A206V|MPHOSPH8_uc001umi.3_5'UTR	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	206	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATTTCTGAAGCCAAAGAAGAA	0.348000														51			5		0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34821933	34821933	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:34821933A>G	uc003jis.3	+	15	1639	c.1100A>G	c.(1099-1101)aAg>aGg	p.K367R	RAI14_uc003jir.3_Missense_Mutation_p.K364R|RAI14_uc010iur.3_Missense_Mutation_p.K335R|RAI14_uc011coj.2_Missense_Mutation_p.K364R|RAI14_uc010ius.1_Missense_Mutation_p.K293R|RAI14_uc003jit.3_Missense_Mutation_p.K364R|RAI14_uc011cok.2_Missense_Mutation_p.K356R	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	364						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTACACAATAAGGAGTTACAA	0.358000														45			16		0	0	1	0	0
TINF2	26277	broad.mit.edu	37	14	24709841	24709841	+	Missense_Mutation	SNP	C	T	T	rs121918544		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24709841C>T	uc001woa.4	-	5	1187	c.845G>A	c.(844-846)cGc>cAc	p.R282H	TINF2_uc010alm.3_Missense_Mutation_p.R106H|TINF2_uc001wob.4_Missense_Mutation_p.R282H|TINF2_uc010tof.2_Missense_Mutation_p.R247H|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	282			R -> H (in ADDKC and ERBMF).|R -> S (in ADDKC).		negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding	p.R282R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		GACTGTGGGGCGCTCCTTATG	0.552000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome					109			78		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56648376	56648376	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56648376G>A	uc001skm.4	-	6	769	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	ANKRD52_uc001skn.1_Non-coding_Transcript	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	227							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCTCCCATCCGAAGCAGGTAC	0.567000														31			12		0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155764489	155764489	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:155764489G>A	uc003qqm.3	-	4	507	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	135	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AAGTCCCTGGGCCTCCTCGGA	0.577000														7			8		0	0	1	0	0
CIDEC	63924	broad.mit.edu	37	3	9918797	9918797	+	Missense_Mutation	SNP	C	T	T	rs148744468		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:9918797C>T	uc003btp.3	-	2	219	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	CIDEC_uc003bto.3_Intron|CIDEC_uc010hcp.3_Missense_Mutation_p.V54M|CIDEC_uc003btq.3_Missense_Mutation_p.V54M|CIDEC_uc003btr.3_Intron|CIDEC_uc021wsv.1_Missense_Mutation_p.V54M|CIDEC_uc021wsw.1_Missense_Mutation_p.V54M|CIDEC_uc003bts.3_Intron	NM_001199623	NP_001186552	Q96AQ7	CIDEC_HUMAN	Homo sapiens cell death-inducing DFFA-like effector c (CIDEC), transcript variant 1, mRNA.	54	CIDE-N.				apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CCCTTCCTCACGCTTCGATCC	0.647000														61			35		0	0	1	0	0
SSC5D	284297	broad.mit.edu	37	19	56011928	56011928	+	Missense_Mutation	SNP	C	T	T	rs146539154	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:56011928C>T	uc002qlg.4	+	10	2461	c.2374C>T	c.(2374-2376)Cgc>Tgc	p.R792C	SSC5D_uc021vbw.1_Missense_Mutation_p.R792C	NM_001144950	NP_001138422	A1L4H1	SRCRL_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing (5 domains) (SSC5D), transcript variant 1, mRNA.	792	SRCR 5.					extracellular region|membrane	scavenger receptor activity			NS(1)|breast(1)|skin(2)	4						GCATGCCGGACGCTGGGGAAC	0.652000														35			34		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126723819	126723819	+	Missense_Mutation	SNP	C	T	T	rs117043507	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:126723819C>T	uc003ejg.3	+	4	1711	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	571					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGTGCAGCCCCGCAATGTGTC	0.657000														67			18		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	428582	428582	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:428582C>T	uc001lpi.2	-	12	1163	c.1078G>A	c.(1078-1080)Gcg>Acg	p.A360T	ANO9_uc001lph.2_Missense_Mutation_p.A53T|ANO9_uc010qvv.1_Missense_Mutation_p.A216T	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	360						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTGAAGAGCGCGGAGGCCAGG	0.667000														29			15		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28478879	28478879	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:28478879G>A	uc001zbj.3	-	27	4388	c.4282C>T	c.(4282-4284)Ccc>Tcc	p.P1428S		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1428					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P1428S(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGCTCGGGGGGAAACATGATC	0.458000														308			5		0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18533573	18533573	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr18:18533573G>A	uc002kte.3	-	31	4968	c.4027C>T	c.(4027-4029)Cgg>Tgg	p.R1343W		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1343	Auto-inhibitory.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACCACTTTCCGGAAAGACTGA	0.358000														394			6		0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102590010	102590010	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:102590010A>G	uc010swa.2	+	11	2024	c.1912A>G	c.(1912-1914)Act>Gct	p.T638A	PARPBP_uc001tjf.3_Missense_Mutation_p.T561A|PARPBP_uc001tjg.3_Missense_Mutation_p.T480A|PARPBP_uc001tjh.3_Missense_Mutation_p.T480A|PARPBP_uc010swb.2_3'UTR|PARPBP_uc009zuc.3_Missense_Mutation_p.T115A|PARPBP_uc001tjj.3_Missense_Mutation_p.T276A|PARPBP_uc001tjk.3_3'UTR|PARPBP_uc009zud.3_3'UTR	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	Homo sapiens PARP1 binding protein (PARPBP), mRNA.	561					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						TAATAAATGTACTGCCAAGGA	0.318000														103			4		0	0	1	0	0
JRK	8629	broad.mit.edu	37	8	143746611	143746611	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:143746611C>T	uc003ywp.3	-	1	1381	c.867G>A	c.(865-867)ccG>ccA	p.P289P	JRK_uc003ywo.3_Silent_p.P289P|JRK_uc022bcb.1_Non-coding_Transcript|JRK_uc022bcc.1_5'Flank	NM_003724	NP_003715			Homo sapiens jerky homolog (mouse) (JRK), transcript variant 1, mRNA.													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				tgctgtcttccggcaaaccta	0.557000														34			16		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36592604	36592604	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:36592604G>A	uc002odd.2	+	24	3101	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	WDR62_uc002odc.2_Missense_Mutation_p.A1004T	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	1004					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GTGCAGCTTCGCAGCCATCCA	0.667000														26			3		0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86248557	86248557	+	Splice_Site	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:86248557G>A	uc003pkr.3	-	16	1668	c.1475_splice	c.e16+1	p.R492_splice	SNX14_uc003pkp.3_Splice_Site_p.R355_splice|SNX14_uc003pkq.3_Intron|SNX14_uc011dzg.2_Splice_Site_p.R440_splice|SNX14_uc003pks.3_Intron|SNX14_uc003pkt.3_Intron	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	492					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		AAGACTTACCGAAAATCATCC	0.303000														20			65		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134334701	134334701	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:134334701G>A	uc004can.4	+	9	1417	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P	PRRC2B_uc010mzj.1_Silent_p.P38P	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	454							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTCAGCCACCGCCCAGGAAGC	0.617000														33			15		0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86895780	86895780	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:86895780G>A	uc010mpz.3	-	14	1811	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	SLC28A3_uc011lsy.2_Silent_p.I486I|SLC28A3_uc004anu.2_Silent_p.I555I	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	555					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CGTAAGTGGCGATTATCTCAG	0.428000														55			3		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153037418	153037418	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:153037418G>A	uc010nuk.2	+	15	2957	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	PLXNB3_uc011mzb.1_3'UTR|PLXNB3_uc011mzc.2_Missense_Mutation_p.V555M|PLXNB3_uc004fii.2_Missense_Mutation_p.V873M|PLXNB3_uc011mzd.1_Missense_Mutation_p.V512M|PLXNB3_uc004fij.1_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	873	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCGTGAGCGTGGCCAGCCG	0.697000														20			25		0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177679589	177679589	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:177679589C>T	uc021yiz.1	-	16	1328	c.970G>A	c.(970-972)Gga>Aga	p.G324R	COL23A1_uc021yiy.1_Missense_Mutation_p.G100R|COL23A1_uc010jkt.2_Missense_Mutation_p.G206R	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	324	Collagen-like 3.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCTGTGGTCCGGGAGGCCCC	0.642000														44			11		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29653046	29653046	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:29653046T>C	uc002hgg.3	+	36	5427	c.5044T>C	c.(5044-5046)Tgt>Cgt	p.C1682R	NF1_uc002hgh.3_Missense_Mutation_p.C1661R|NF1_uc002hgi.1_Missense_Mutation_p.C694R|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1682	CRAL-TRIO.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATCTATAACTGTAACTCCTG	0.463000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				45			32		0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50399428	50399428	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:50399428G>T	uc002pqv.2	-	4	846	c.17C>A	c.(16-18)cCa>cAa	p.P6Q	IL4I1_uc002pqt.1_5'UTR|IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	0						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GACTCTCGGTGGGAGATGGTG	0.617000														25			27		1.42536e-11	1.4623e-11	1	1	0
SPATA2	9825	broad.mit.edu	37	20	48524979	48524979	+	Missense_Mutation	SNP	G	A	A	rs77667957		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr20:48524979G>A	uc010gie.3	-	1	399	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W	SPATA2_uc002xuw.3_Missense_Mutation_p.R17W|SPATA2_uc010zyn.2_Intron	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	17					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ACGTACTTCCGAAATAAGTCA	0.552000														48			11		0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709264	128709264	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:128709264C>T	uc001qeo.1	-	1	983	c.932G>A	c.(931-933)cGg>cAg	p.R311Q	KCNJ1_uc001qep.1_Missense_Mutation_p.R292Q|KCNJ1_uc001qeq.1_Missense_Mutation_p.R292Q|KCNJ1_uc001qer.1_Missense_Mutation_p.R292Q|KCNJ1_uc001qes.1_Missense_Mutation_p.R292Q|KCNJ1_uc021qsb.1_Missense_Mutation_p.R292Q	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	311					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATAGGATGTCCGGACTTGGCA	0.498000														21			8		0	0	1	0	0
RNF5P1	286140	broad.mit.edu	37	8	38458285	38458285	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:38458285C>T	uc003xly.3	-	0	491	c.434G>A	c.(433-435)cGg>cAg	p.R145Q						Homo sapiens ring finger protein 5 pseudogene 1 (RNF5P1), non-coding RNA.																		ACCTGTACCCCGGCGGAAAGG	0.532000														20			3		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10713846	10713846	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:10713846G>A	uc001aro.3	-	10	2588	c.2268C>T	c.(2266-2268)gcC>gcT	p.A756A	CASZ1_uc001arp.1_Silent_p.A756A|CASZ1_uc009vmx.2_Silent_p.A780A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	756					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.A756T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCTCGGTGGCGGCAGTGGCGG	0.682000														9			39		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247381	56247381	+	Missense_Mutation	SNP	G	A	A	rs142058863	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:56247381G>A	uc010wnp.2	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCCTTTGACCGCCTCATTGCC	0.562000														22			13		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205041226	205041226	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:205041226C>T	uc001hbr.3	+	19	2965	c.2696C>T	c.(2695-2697)gCc>gTc	p.A899V	CNTN2_uc001hbq.1_Missense_Mutation_p.A790V|CNTN2_uc001hbs.3_Missense_Mutation_p.A687V	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	899	Fibronectin type-III 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACTGGGCCTGCCAGCCCTTCT	0.627000														5			33		0	0	1	0	0
WDR87	83889	broad.mit.edu	37	19	38386820	38386820	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:38386820G>A	uc002ohj.2	-	2	429	c.204C>T	c.(202-204)ttC>ttT	p.F68F	WDR87_uc010efu.2_Intron	NM_031951	NP_114157	Q6ZQQ6	WDR87_HUMAN	Homo sapiens WD repeat domain 87 (WDR87), mRNA.	42										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AGAGGGAGGCGAAGAAGTGGG	0.463000														73			55		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287927	46287927	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:46287927C>T	uc001van.1	+	2	847	c.767C>T	c.(766-768)gCg>gTg	p.A256V	SPERT_uc001vao.2_Missense_Mutation_p.A220V	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	256						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GAGAATCGCGCGCTGCAGCAG	0.692000														1			12		0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59499082	59499082	+	Missense_Mutation	SNP	G	A	A	rs138530641	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:59499082G>A	uc011lee.2	-	27	2535	c.2474C>T	c.(2473-2475)aCg>aTg	p.T825M	NSMAF_uc003xtt.3_Missense_Mutation_p.T794M	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	794					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TAAGGTGGCCGTTGTGAGGTC	0.408000														143			32		0	0	1	0	0
FAM198B	51313	broad.mit.edu	37	4	159076877	159076877	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr4:159076877C>T	uc003ipq.4	-	3	1442	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	FAM198B_uc003ipp.4_Silent_p.Q337Q|FAM198B_uc003ipr.4_Silent_p.Q337Q	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	337						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						GTTTCAGCAACTGCTGATAAG	0.473000														72			40		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56090778	56090778	+	Missense_Mutation	SNP	G	A	A	rs146411608	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:56090778G>A	uc001shh.3	-	11	1874	c.1654C>T	c.(1654-1656)Cgt>Tgt	p.R552C	ITGA7_uc001shg.3_Missense_Mutation_p.R548C|ITGA7_uc010sps.2_Missense_Mutation_p.R455C|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.R429C	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	592					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCCAGGTTACGGCTCAGGAAC	0.617000														40			9		0	0	1	0	0
TSSK4	283629	broad.mit.edu	37	14	24675808	24675808	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24675808G>A	uc001wnh.3	+	1	523	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Missense_Mutation_p.G31S|TSSK4_uc001wnf.3_5'UTR|TSSK4_uc001wng.3_Missense_Mutation_p.G107S	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	107	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		ACTGGCTCAGGGTGGTGATGT	0.547000														108			5		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49694040	49694040	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:49694040C>T	uc003cxe.4	+	4	7165	c.7051C>T	c.(7051-7053)Cgg>Tgg	p.R2351W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2351					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGCCCTCAGCCGGCCAGGGTT	0.647000														53			26		0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636542	18636542	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:18636542G>A	uc001moy.3	-	2	1495	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	SPTY2D1_uc010rdi.1_Missense_Mutation_p.R427W	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	427	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTGACTGTCCGCCTAGAGGGA	0.582000														44			10		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28427617	28427617	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:28427617G>A	uc001zbj.3	-	56	8973	c.8867C>T	c.(8866-8868)aCg>aTg	p.T2956M		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2956					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GGTTCTTATCGTAGCTGCTGA	0.493000														45			11		0	0	1	0	0
VPS37C	55048	broad.mit.edu	37	11	60899839	60899839	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:60899839C>T	uc001nqv.1	-	4	581	c.521G>A	c.(520-522)cGt>cAt	p.R174H	VPS37C_uc001nqw.1_3'UTR	NM_017966	NP_060436	A5D8V6	VP37C_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog C (S. cerevisiae) (VPS37C), mRNA.	174	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GGGTGGTGGACGGGGTGGAGG	0.672000														42			23		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37036493	37036493	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:37036493G>A	uc003jkl.4	+	32	6374	c.5875G>A	c.(5875-5877)Gaa>Aaa	p.E1959K	NIPBL_uc003jkk.4_Missense_Mutation_p.E1959K	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1959					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTTGAAGTCCGAAGAGGATTC	0.279000														70			11		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14268815	14268815	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:14268815C>T	uc010xnn.2	-	13	2725	c.2429G>A	c.(2428-2430)cGt>cAt	p.R810H	LPHN1_uc010xno.2_Missense_Mutation_p.R805H|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	810	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGCATGGAACGCTCCGAGTA	0.567000														80			18		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24879316	24879316	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24879316C>T	uc001wpf.4	+	3	2634	c.2316C>T	c.(2314-2316)caC>caT	p.H772H		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	772					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGTACCACGAGGCCCTGA	0.627000														51			13		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155629537	155629537	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:155629537A>G	uc010pgi.2	-	9	2770	c.2578T>C	c.(2578-2580)Tct>Cct	p.S860P	GON4L_uc021paz.1_Missense_Mutation_p.S702P|GON4L_uc010pgg.2_Missense_Mutation_p.S607P|GON4L_uc010pgh.2_Missense_Mutation_p.S711P|GON4L_uc009wqt.3_Missense_Mutation_p.S691P|GON4L_uc001flh.3_Missense_Mutation_p.S840P|GON4L_uc001fll.3_Missense_Mutation_p.S722P|GON4L_uc001flk.3_Missense_Mutation_p.S711P|GON4L_uc001flm.3_Missense_Mutation_p.S711P|GON4L_uc009wqu.3_Missense_Mutation_p.S555P|GON4L_uc009wqv.3_Missense_Mutation_p.S439P|GON4L_uc009wqw.3_Missense_Mutation_p.S691P|GON4L_uc001flj.3_Missense_Mutation_p.S702P|GON4L_uc001fli.3_Missense_Mutation_p.S722P|GON4L_uc001flo.3_Missense_Mutation_p.S656P|GON4L_uc001fln.3_Missense_Mutation_p.S768P|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.S722P	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1312					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGTTTAGAGACTCCTGGATG	0.498000														59			49		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141233894	141233894	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:141233894G>A	uc003llp.3	-	4	3544	c.3427C>T	c.(3427-3429)Cgc>Tgc	p.R1143C		NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	0					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTGGTCCGGCGGCTGGGAGAT	0.657000														25			30		0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49106626	49106626	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:49106626C>T	uc004dnd.2	+	16	1958	c.1788C>T	c.(1786-1788)ggC>ggT	p.G596G		NM_014008	NP_054727	O60826	CCD22_HUMAN	Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA.	596										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CAGAGCTGGGCAAGAAGACCC	0.637000														9			90		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105669000	105669000	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:105669000C>T	uc003vdl.4	+	16	2384	c.2276C>T	c.(2275-2277)aCg>aTg	p.T759M	CDHR3_uc003vdk.3_Silent_p.N190N|CDHR3_uc003vdm.4_Missense_Mutation_p.T746M|CDHR3_uc011klt.2_Missense_Mutation_p.T671M|CDHR3_uc003vdn.3_Silent_p.N259N	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TCTGCAGAAACGAAGACTGCA	0.537000														55			46		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580988	7580988	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr6:7580988C>T	uc003mxp.1	+	22	4844	c.4565C>T	c.(4564-4566)aCg>aTg	p.T1522M	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1522	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTAGTGCGACGGAGACAATA	0.473000														21			11		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39377146	39377146	+	Silent	SNP	G	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:39377146G>T	uc003jlx.3	-	11	2274	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P	DAB2_uc003jlw.3_Silent_p.P560P	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	581					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			ACCAAGCATTGGGTGCCACAG	0.547000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		124			9		1.12685e-05	1.14127e-05	1	1	0
KRT6C	286887	broad.mit.edu	37	12	52867039	52867039	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:52867039G>A	uc001sal.4	-	0	531	c.483C>T	c.(481-483)gcC>gcT	p.A161A		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	161	Head.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CACGCTCCTCGGCCCGCACCC	0.612000														45			45		0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101483798	101483798	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr10:101483798C>T	uc001kqb.4	-	4	1282	c.665G>A	c.(664-666)cGc>cAc	p.R222H	COX15_uc001kqc.4_Missense_Mutation_p.R222H|COX15_uc010qpj.2_Missense_Mutation_p.R43H	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN	Homo sapiens COX15 homolog, cytochrome c oxidase assembly protein (yeast) (COX15), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	222					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GGCAGCAAGGCGGTACTGACT	0.522000														9			24		0	0	1	0	0
PLEKHM2	23207	broad.mit.edu	37	1	16053893	16053893	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:16053893C>T	uc010obo.2	+	8	1553	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	442					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CCGGCTCTCCCGGGGATGCCC	0.627000														15			67		0	0	1	0	0
KCTD9	54793	broad.mit.edu	37	8	25296836	25296836	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:25296836C>T	uc003xeo.3	-	5	680	c.458G>A	c.(457-459)cGt>cAt	p.R153H	DOCK5_uc003xek.3_Intron	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	153	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R153C(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		CTGTCCATGACGCAAGTAGTT	0.353000														202			5		0	0	1	0	0
DUSP9	1852	broad.mit.edu	37	X	152915503	152915503	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:152915503G>A	uc004fhx.4	+	3	1102	c.898G>A	c.(898-900)Gtc>Atc	p.V300I	DUSP9_uc004fhy.4_Missense_Mutation_p.V300I	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	300	Tyrosine-protein phosphatase.				JNK cascade|inactivation of MAPK activity	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGTCACCGTCACTGTGGC	0.582000														39			20		0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204002940	204002940	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:204002940A>G	uc002uzt.3	+	28	4867	c.4534A>G	c.(4534-4536)Aat>Gat	p.N1512D	NBEAL1_uc021vvj.1_Missense_Mutation_p.N215D	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1512							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGCAAAAACTAATCCAGTAAC	0.393000														62			6		0	0	1	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43236982	43236982	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:43236982G>A	uc003bdd.2	-	2	449	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ARFGAP3_uc010gzf.2_Nonsense_Mutation_p.R77*|ARFGAP3_uc011apu.1_Nonsense_Mutation_p.R77*	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	77	Arf-GAP.				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|cytosol	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TGCATGCATCGCAACTGAAAC	0.353000														36			21		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225684245	225684245	+	Splice_Site	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:225684245C>T	uc010fwz.1	-	29	3423	c.3184_splice	c.e29-1	p.R1062_splice	DOCK10_uc002vob.2_Splice_Site_p.R1056_splice|DOCK10_uc002voc.2_5'Flank	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1062							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTAAAGCAGCGCTAAAATAG	0.308000														42			3		0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42600329	42600329	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42600329G>A	uc002osp.3	-	7	630	c.568C>T	c.(568-570)Cca>Tca	p.P190S	POU2F2_uc002osn.3_Missense_Mutation_p.P174S|POU2F2_uc002osq.3_Missense_Mutation_p.P174S|POU2F2_uc002osr.2_Missense_Mutation_p.P190S	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	190					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TGGGATGGTGGCTCCAAGCAT	0.682000														23			14		0	0	1	0	0
PANX2	56666	broad.mit.edu	37	22	50617544	50617544	+	Silent	SNP	G	A	A	rs114447696	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr22:50617544G>A	uc003bjn.4	+	2	1872	c.1872G>A	c.(1870-1872)ccG>ccA	p.P624P	PANX2_uc003bjp.4_Silent_p.P490P|PANX2_uc003bjo.4_Silent_p.P624P	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	624					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCACACACCCGCTGCTGCACA	0.716000														65			3		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879218	144879218	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr1:144879218C>T	uc021ouh.1	-	26	4534	c.4232G>A	c.(4231-4233)aGt>aAt	p.S1411N	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S1411N|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1367N|PDE4DIP_uc001elv.4_Missense_Mutation_p.S418N	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1411					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCAGGGACACTATGAGGTGA	0.547000			T	PDGFRB	MPD									48			36		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35733452	35733452	+	Silent	SNP	A	G	G			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:35733452A>G	uc021rid.1	+	21	3678	c.3144A>G	c.(3142-3144)gtA>gtG	p.V1048V	NBEA_uc021ric.1_Silent_p.V1048V|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1048						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAGTGGTGTACATGTGGAAG	0.393000														64			39		0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94005883	94005883	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:94005883T>C	uc003kkr.4	+	12	1640	c.1560T>C	c.(1558-1560)tgT>tgC	p.C520C		NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	520										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AAAGCTTTTGTCATCAAATTT	0.323000														174			5		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877295	24877295	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr14:24877295G>A	uc001wpf.4	+	2	737	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	140					DNA integration	integral to membrane	DNA binding	p.R140Q(2)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGTGGGGCGACTGCGCTGG	0.682000														21			13		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133250211	133250211	+	Missense_Mutation	SNP	C	T	T	rs115047349	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:133250211C>T	uc001uks.1	-	12	1353	c.1309G>A	c.(1309-1311)Gtg>Atg	p.V437M	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.V410M	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	437					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTAGCTCCACGGGATCATAG	0.617000								DNA polymerases (catalytic subunits)						14			14		0	0	1	0	0
CYP2B7P1	1556	broad.mit.edu	37	19	41442033	41442033	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:41442033T>C	uc010ehg.1	+	1	211	c.203T>C	c.(202-204)gTa>gCa	p.V68A	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.V68A|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						GTCTTCACGGTACACCTGGGA	0.542000														47			6		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42861000	42861000	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:42861000G>A	uc002otl.4	+	25	5131	c.4496G>A	c.(4495-4497)cGc>cAc	p.R1499H	MEGF8_uc002otm.4_Missense_Mutation_p.R1107H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1566						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCATCGCCCCGCTCCTTCCAT	0.662000														33			16		0	0	1	0	0
FBXO3	26273	broad.mit.edu	37	11	33770354	33770354	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:33770354G>A	uc001muz.3	-	8	1045	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D	FBXO3_uc010rej.2_Silent_p.D26D|FBXO3_uc001muy.3_Silent_p.D226D|FBXO3_uc009ykb.3_Non-coding_Transcript|FBXO3_uc001mva.1_Silent_p.D339D|FBXO3_uc001mvb.1_Silent_p.D334D|FBXO3_uc010rek.1_Non-coding_Transcript	NM_012175	NP_036307	Q9UK99	FBX3_HUMAN	Homo sapiens F-box protein 3 (FBXO3), transcript variant 1, mRNA.	339	ApaG.				proteolysis	nucleus	ubiquitin-protein ligase activity			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1)	13		Lung NSC(402;0.0804)		BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008)		CTTCTTCCACGTCACCCTTAG	0.403000														37			15		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19236099	19236099	+	Silent	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:19236099T>C	uc002dfw.3	+	6	1498	c.1167T>C	c.(1165-1167)aaT>aaC	p.N389N	SYT17_uc002dfx.3_Silent_p.N328N|SYT17_uc002dfy.3_Silent_p.N385N	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	389	C2 2.					membrane|synaptic vesicle	transporter activity	p.Y388C(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTTTCTACAATGAATCCTTCA	0.448000														61			9		0	0	1	0	0
STT3B	201595	broad.mit.edu	37	3	31617961	31617961	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr3:31617961G>A	uc011axe.2	+	1	388	c.388G>A	c.(388-390)Gca>Aca	p.A130T	STT3B_uc003cer.1_Missense_Mutation_p.A130T|STT3B_uc010hft.1_Missense_Mutation_p.A130T	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	130					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGATGAAAGAGCATGGTATCC	0.289000														83			59		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140779700	140779700	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:140779700C>T	uc003lkf.2	+	0	2006	c.2006C>T	c.(2005-2007)cCg>cTg	p.P669L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.P669L|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	675	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGTGCTGCCGGATATCACT	0.622000														62			23		0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68530138	68530138	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr11:68530138T>C	uc001oog.4	-	14	2002	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	CPT1A_uc001oof.4_Missense_Mutation_p.E611G	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	611					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	GTCGCATGACTCAGTGGTGCA	0.597000														39			6		0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48185382	48185382	+	Silent	SNP	G	A	A	rs138164422		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr12:48185382G>A	uc010slo.2	-	14	2115	c.1920C>T	c.(1918-1920)aaC>aaT	p.N640N	HDAC7_uc001rqe.3_Silent_p.N74N|HDAC7_uc001rqj.4_Silent_p.N603N|HDAC7_uc001rqk.4_Silent_p.N623N	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	601	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCAGCTTCCCGTTGTCCAGTT	0.652000														53			14		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21983099	21983099	+	Missense_Mutation	SNP	G	A	A	rs138624433		TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr8:21983099G>A	uc003xas.3	-	3	2217	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	HR_uc003xat.3_Missense_Mutation_p.R518W	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	518							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GCTCACCTCCGCACTTGCTGA	0.652000														31			6		0	0	1	0	0
C9orf86	55684	broad.mit.edu	37	9	139730292	139730292	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:139730292C>T	uc004cjj.1	+	7	1264	c.807C>T	c.(805-807)taC>taT	p.Y269Y	C9orf86_uc004cji.1_Silent_p.Y268Y|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Silent_p.Y153Y|C9orf86_uc004cjn.1_5'UTR	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	268	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		ACCAGAACTACGGCATGTATG	0.687000														30			11		0	0	1	0	0
ASPHD1	253982	broad.mit.edu	37	16	29917204	29917204	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:29917204G>A	uc002dut.3	+	2	1305	c.1159G>A	c.(1159-1161)Gcc>Acc	p.A387T	BOLA2_uc010bzb.1_Intron|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript	NM_181718	NP_859069	Q5U4P2	ASPH1_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA.	387					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTTTGTCTTCGCCCCAGACCC	0.632000														28			3		0	0	1	0	0
PDPR	55066	broad.mit.edu	37	16	70164360	70164360	+	Missense_Mutation	SNP	T	A	A	rs140519130	by1000genomes	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr16:70164360T>A	uc002eyf.1	+	6	1599	c.642T>A	c.(640-642)caT>caA	p.H214Q	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.H114Q|PDPR_uc002eyg.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	214					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGTTCTTCATGTAATGGTCA	0.448000														60			4		0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86571236	86571236	+	Silent	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:86571236G>A	uc004anb.3	-	0	428	c.180C>T	c.(178-180)gcC>gcT	p.A60A	C9orf64_uc004anc.3_Intron	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	60										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CGGCCTCGTCGGCCGCCCTGG	0.647000														43			12		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37916858	37916858	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:37916858C>T	uc002ogj.3	-	7	1154	c.222G>A	c.(220-222)ccG>ccA	p.P74P	ZNF569_uc002ogh.3_Intron|ZNF569_uc002ogi.3_Silent_p.P50P	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTTGGTGAACGGATAGCCTG	0.443000														73			49		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273936	14273936	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:14273936C>T	uc010xnn.2	-	5	988	c.692G>A	c.(691-693)cGc>cAc	p.R231H	LPHN1_uc010xno.2_Missense_Mutation_p.R226H|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	231	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACGATGTTGCGCGTGCGCTC	0.622000														27			34		0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75949418	75949418	+	Silent	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:75949418C>T	uc002bau.3	+	1	1683	c.1587C>T	c.(1585-1587)gcC>gcT	p.A529A	SNX33_uc002bav.3_Silent_p.A142A	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	529	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CCCTGCAGGCCGAGATGAACC	0.627000														54			42		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12896262	12896262	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr17:12896262C>T	uc002gnz.4	-	23	2471	c.2354G>A	c.(2353-2355)cGg>cAg	p.R785Q	ELAC2_uc002gnu.4_Missense_Mutation_p.R182Q|ELAC2_uc002gnv.4_Missense_Mutation_p.R413Q|ELAC2_uc002gnx.4_Missense_Mutation_p.R545Q|ELAC2_uc010vvo.2_Missense_Mutation_p.R583Q|ELAC2_uc010vvp.2_Missense_Mutation_p.R766Q|ELAC2_uc010vvq.2_Missense_Mutation_p.R784Q|ELAC2_uc010vvr.2_Missense_Mutation_p.R745Q	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	785					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						CCGCAGCTCCCGCTTCTCCCT	0.647000														3			19		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028375	37028375	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chrX:37028375G>A	uc004ddl.2	+	0	1944	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	631										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCATCTCCGCCCAGAGCCT	0.637000														4			46		0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39090577	39090577	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr19:39090577T>C	uc002oix.1	-	21	1765	c.1657A>G	c.(1657-1659)Atg>Gtg	p.M553V	MAP4K1_uc002oiy.1_Missense_Mutation_p.M553V|MAP4K1_uc010xug.2_Intron	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	553	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GAGAGAGACATGAGAACGTTG	0.587000														39			9		0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165578972	165578972	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr2:165578972delA	uc002ucp.3	-	4	944	c.722delT	c.(721-723)ttcfs	p.F241fs	COBLL1_uc002ucq.3_Frame_Shift_Del_p.F241fs|COBLL1_uc010zcw.2_Frame_Shift_Del_p.F307fs|COBLL1_uc010zcx.2_Frame_Shift_Del_p.F287fs|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Frame_Shift_Del_p.F10fs	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	279										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AAAAAAACTGAAAAACCCTTT	0.284													---	23	---	---	37	---					
STK10	6793	broad.mit.edu	37	5	171482625	171482626	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr5:171482625_171482626insC	uc003mbo.1	-	15	2792_2793	c.2492_2493insG	c.(2491-2493)ggcfs	p.G831fs		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	831	Gln-rich.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGCTGCGCTGCCCCCGCCGTT	0.653													---	212	---	---	7	---					
UBN2	254048	broad.mit.edu	37	7	138969008	138969010	+	In_Frame_Del	DEL	CAG	-	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr7:138969008_138969010delCAG	uc011kqr.2	+	14	3357_3359	c.3357_3359delCAG	c.(3355-3360)atcagc>atc	p.S1120del		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1120	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATGAACATCAGCAGACAGTCT	0.493													---	87	---	---	52	---					
C9orf100	84904	broad.mit.edu	37	9	35664388	35664389	+	Frame_Shift_Del	DEL	CT	-	-	rs139646420	byFrequency	TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr9:35664388_35664389delCT	uc003zxm.1	-	2	446_447	c.334_335delAG	c.(334-336)aggfs	p.R112fs	C9orf100_uc003zxl.3_Non-coding_Transcript|C9orf100_uc011loz.1_Frame_Shift_Del_p.R112fs	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	Homo sapiens chromosome 9 open reading frame 100 (C9orf100), mRNA.	112	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(1)	2	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGTCTGGGACCTCTCTGAGTTG	0.545													---	114	---	---	33	---					
RB1	5925	broad.mit.edu	37	13	49033915	49033915	+	Frame_Shift_Del	DEL	C	-	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr13:49033915delC	uc001vcb.3	+	19	2218	c.2052delC	c.(2050-2052)ttcfs	p.F684fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	684	Domain B.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.F684fs*12(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGACCCTTTTCCAGCACACCC	0.458		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	25	---	---	94	---					
LOC283685	0	broad.mit.edu	37	15	23685175	23685179	+	Frame_Shift_Del	DEL	TCTCC	-	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:23685175_23685179delTCTCC	uc021sfx.1	-	0	29_33	c.15_19delGGAGA	c.(13-21)gaggagaagfs	p.E5fs						Homo sapiens cDNA FLJ36144 fis, clone TESTI2025022, weakly similar to TRICHOHYALIN.																		ccctgcatcttctcctcctgctccc	0.605													---	4	---	---	2	---					
TMEM87A	25963	broad.mit.edu	37	15	42564314	42564314	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8428-01A-11D-2310-10	TCGA-KN-8428-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	322f0b01-2118-4dbe-aba1-3875a54ee71b	7a9405f5-81bf-4879-abfe-2688b8f3ca93	g.chr15:42564314delT	uc021sjr.1	-	1	311	c.152delA	c.(151-153)aatfs	p.N51fs	GANC_uc001zph.3_5'Flank|GANC_uc001zpi.3_5'Flank|TMEM87A_uc001zpf.4_Intron|TMEM87A_uc010bcu.1_Intron|TMEM87A_uc001zpg.2_Frame_Shift_Del_p.N51fs|GANC_uc010ude.1_5'Flank	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	Homo sapiens transmembrane protein 87A (TMEM87A), transcript variant 1, mRNA.	51						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		ACTAAAATAATTTTTCCCCTG	0.294													---	323	---	---	16	---					
