Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MLL3	58508	broad.mit.edu	37	7	151921114	151921114	+	Nonsense_Mutation	SNP	A	A	T	rs4024337		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr7:151921114A>T	uc003wla.3	-	19	3528	c.3309T>A	c.(3307-3309)tgT>tgA	p.C1103*	MLL3_uc003wkz.3_Nonsense_Mutation_p.C164*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1103					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.C1103*(15)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CACATTGTCTACATTGCAGAA	0.338000			N		medulloblastoma								6	338					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65107956	65107956	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:65107956C>G	uc001odm.3	+	1	266	c.133C>G	c.(133-135)Cag>Gag	p.Q45E	DPF2_uc010roe.2_Missense_Mutation_p.Q45E	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	45					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTTGGACTCACAGACCGGAGT	0.562000													41	67					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836182	247836182	+	Silent	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:247836182C>A	uc001idi.1	-	0	162	c.162G>T	c.(160-162)acG>acT	p.T54T		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T54M(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATACATGGGCGTATGCAAGG	0.418000													17	86					3.86236e-30	4.4669e-30	1	1	0
TBC1D9	23158	broad.mit.edu	37	4	141600812	141600812	+	Silent	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr4:141600812G>A	uc010ioj.3	-	3	818	c.546C>T	c.(544-546)agC>agT	p.S182S		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	182	GRAM 1.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GGTGGTTAATGCTGAGGTACA	0.448000													24	38					0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36557328	36557328	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:36557328C>T	uc001bzt.3	+	2	471	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W		NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA.	140						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				TGAGCCTGCCCGGGCCCAGTT	0.562000													4	84					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059687	152059687	+	Silent	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:152059687C>T	uc001ezo.1	-	2	536	c.471G>A	c.(469-471)gtG>gtA	p.V157V		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	157							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TCCATGGGTCCACTCTGTTAT	0.453000													44	91					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38162890	38162890	+	Silent	SNP	T	T	C	rs35326828		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr8:38162890T>C	uc003xli.3	-	12	2834	c.2316A>G	c.(2314-2316)aaA>aaG	p.K772K	WHSC1L1_uc011lbm.2_Silent_p.K772K|WHSC1L1_uc010lwe.3_Silent_p.K772K	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	772					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CATGATAAAATTTCCCACAAG	0.458000			T	NUP98	AML								3	98					0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26585819	26585819	+	Silent	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr4:26585819T>C	uc003gsf.4	+	0	274	c.4T>C	c.(4-6)Ttg>Ctg	p.L2L	TBC1D19_uc010iew.3_Silent_p.L2L|TBC1D19_uc011bxu.2_Silent_p.L2L	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	2						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AGGGGAAATGTTGCAGGAGGA	0.627000													23	30					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113935438	113935438	+	Silent	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:113935438G>A	uc009xxy.2	-	5	543	c.333C>T	c.(331-333)taC>taT	p.Y111Y	GPAM_uc001kzp.3_Silent_p.Y111Y|GPAM_uc001kzq.1_Silent_p.Y111Y	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	111					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TAAAAAGAACGTAAGAAAGGC	0.438000													3	77					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979468	89979468	+	Silent	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr5:89979468T>C	uc003kju.3	+	27	5826	c.5730T>C	c.(5728-5730)gaT>gaC	p.D1910D	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1910					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGATCCTGATGGTGATCTCG	0.418000													32	57					0	0	1	0	0
STK40	83931	broad.mit.edu	37	1	36820910	36820910	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:36820910A>T	uc001cak.1	-	5	874	c.467T>A	c.(466-468)cTc>cAc	p.L156H	STK40_uc001cal.1_Missense_Mutation_p.L161H|STK40_uc001cam.1_Missense_Mutation_p.L156H|STK40_uc001can.1_Missense_Mutation_p.L156H	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	156	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				CAGGTTGATGAGGTCAGCGGT	0.557000													59	105					0	0	1	0	0
MYNN	55892	broad.mit.edu	37	3	169496621	169496621	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:169496621G>A	uc003ffu.3	+	3	828	c.332G>A	c.(331-333)tGc>tAc	p.C111Y	MYNN_uc011bpm.2_5'UTR|MYNN_uc003fft.3_Missense_Mutation_p.C111Y|MYNN_uc003ffv.3_Intron|MYNN_uc010hwo.3_Missense_Mutation_p.C111Y|MYNN_uc003ffw.1_5'Flank	NM_001185118	NP_061127	Q9NPC7	MYNN_HUMAN	Homo sapiens myoneurin (MYNN), transcript variant 2, mRNA.	111						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			GTCACTAAATGCAAAATAAAG	0.348000													19	34					0	0	1	0	0
RDH13	112724	broad.mit.edu	37	19	55570627	55570627	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr19:55570627C>A	uc002qio.3	-	1	267	c.82G>T	c.(82-84)Ggg>Tgg	p.G28W	RDH13_uc002qip.2_5'UTR|RDH13_uc010yfq.1_Intron	NM_001145971	NP_612421	Q8NBN7	RDH13_HUMAN	Homo sapiens retinol dehydrogenase 13 (all-trans/9-cis) (RDH13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	28							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GGGCAAGCCCCACCGGTGACA	0.632000													30	41					1.26612e-14	1.39168e-14	1	1	0
NRG3	10718	broad.mit.edu	37	10	83635808	83635808	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:83635808T>C	uc021pvc.1	+	0	739	c.712T>C	c.(712-714)Tct>Cct	p.S238P	NRG3_uc010qlz.1_Missense_Mutation_p.S238P|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.S238P|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank|NRG3_uc021pvd.1_5'Flank|NRG3_uc021pve.1_5'Flank|NRG3_uc021pvf.1_5'Flank|NRG3_uc021pvg.1_5'Flank|NRG3_uc021pvh.1_5'Flank|NRG3_uc021pvi.1_5'Flank	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA.	238	Ser/Thr-rich.				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.S238C(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCTTCACGATTCTACTCCCTC	0.602000													46	69					0	0	1	0	0
HSPB11	51668	broad.mit.edu	37	1	54395757	54395757	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:54395757G>A	uc001cwh.3	-	2	236	c.160C>T	c.(160-162)Cac>Tac	p.H54Y	HSPB11_uc001cwi.1_Missense_Mutation_p.H54Y	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	Homo sapiens heat shock protein family B (small), member 11 (HSPB11), mRNA.	54					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						ACATGTTTGTGGAAACAAATA	0.318000													3	78					0	0	1	0	0
CSNK1E	1454	broad.mit.edu	37	22	38690131	38690131	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr22:38690131C>T	uc003avj.3	-	8	1463	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	CSNK1E_uc003avk.3_Missense_Mutation_p.R401Q|CSNK1E_uc003avm.2_Missense_Mutation_p.R401Q	NM_152221	NP_689407	P49674	KC1E_HUMAN	Homo sapiens casein kinase 1, epsilon (CSNK1E), transcript variant 1, mRNA.	401					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GGCTGGGATCCGGGAGACCTC	0.662000													10	31					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135370357	135370357	+	Silent	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr7:135370357C>A	uc003vtb.3	-	13	2210	c.1521G>T	c.(1519-1521)ctG>ctT	p.L507L	SLC13A4_uc003vta.3_Silent_p.L506L|C7orf73_uc003vsz.4_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	506						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TGCATGCCAGCAGGGTGACAG	0.552000													71	125					3.30373e-36	3.85436e-36	1	1	0
RGL3	57139	broad.mit.edu	37	19	11510743	11510743	+	Missense_Mutation	SNP	G	G	A	rs141019468	byFrequency	TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr19:11510743G>A	uc002mro.2	-	14	1686	c.1622C>T	c.(1621-1623)cCc>cTc	p.P541L	RGL3_uc002mrn.2_Missense_Mutation_p.P305L|RGL3_uc002mrm.2_Missense_Mutation_p.P305L|RGL3_uc002mrp.2_Missense_Mutation_p.P541L	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	541	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGGGTCCCCGGGACTCCCACT	0.602000													4	62					0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48571053	48571053	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr13:48571053C>G	uc001vbs.3	-	1	253	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	SUCLA2_uc010tgb.2_Missense_Mutation_p.E6Q|SUCLA2_uc010tgc.2_5'UTR|SUCLA2_uc010tgd.2_Missense_Mutation_p.E6Q	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	66	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	ACACCAGCTTCTTGCAATAAT	0.393000													45	94					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51768400	51768400	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:51768400T>G	uc003pah.1	-	42	7267	c.6991A>C	c.(6991-6993)Ata>Cta	p.I2331L	PKHD1_uc010jzn.1_Missense_Mutation_p.I314L|PKHD1_uc003pai.3_Missense_Mutation_p.I2331L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2331			I -> K (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTACCTCTATAACATTGGTG	0.478000													31	56					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96818110	96818110	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:96818110G>C	uc001kkb.3	-	4	896	c.801C>G	c.(799-801)ttC>ttG	p.F267L	CYP2C8_uc010qoa.2_Missense_Mutation_p.F197L|CYP2C8_uc010qoc.2_Missense_Mutation_p.F165L|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.F181L|CYP2C8_uc021pwl.1_Missense_Mutation_p.F197L|CYP2C8_uc010qod.1_Missense_Mutation_p.F181L	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	267					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTTGATCAGGAAGCAATCGA	0.353000													38	55					0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744543	154744543	+	Silent	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:154744543C>T	uc021pah.1	-	2	1670	c.1356G>A	c.(1354-1356)aaG>aaA	p.K452K	KCNN3_uc001ffo.3_Silent_p.K147K|KCNN3_uc001ffp.3_Silent_p.K452K|KCNN3_uc009wox.1_Silent_p.K452K	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	457						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TCATGAGCGTCTTCATGACAA	0.562000													38	58					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160300	51160300	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr22:51160300C>G	uc003bne.1	+	21	4087	c.4087C>G	c.(4087-4089)Cct>Gct	p.P1363A	SHANK3_uc003bnf.1_Missense_Mutation_p.P810A	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1363										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)		TGAGCCACCCCCTGCCCCTGA	0.711000													9	24					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124847425	124847425	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:124847425G>C	uc001qbm.4	+	5	941	c.682G>C	c.(682-684)Gga>Cga	p.G228R		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	228						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGGAATAAGAGGAGAGTTGCC	0.378000													13	28					0	0	1	0	0
RBM5	10181	broad.mit.edu	37	3	50155814	50155814	+	Nonsense_Mutation	SNP	T	T	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:50155814T>A	uc003cyg.3	+	24	2548	c.2373T>A	c.(2371-2373)taT>taA	p.Y791*	RBM5_uc011bdk.2_Nonsense_Mutation_p.Y619*|RBM5_uc003cyh.3_Nonsense_Mutation_p.Y248*|AK125500_uc003cyi.1_Intron	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	791	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGCGCATATGGTTTGTCGG	0.557000													51	68					0	0	1	0	0
GBAS	2631	broad.mit.edu	37	7	56046042	56046042	+	Splice_Site	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr7:56046042G>C	uc003tre.2	+	3	266	c.233_splice	c.e3-1	p.F78_splice	GBAS_uc003trf.2_Intron	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTTTGTTTCAGTTCACAATGT	0.323000													65	89					0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25051029	25051029	+	Splice_Site	SNP	A	A	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:25051029A>C	uc010ykm.2	-	13	2372	c.2173_splice	c.e13-1	p.L725_splice	ADCY3_uc002rfr.4_Intron|ADCY3_uc002rfs.4_Splice_Site_p.L725_splice	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	725					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGACAGCTGAGCTGGAGGCC	0.602000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	54					0	0	1	0	0
CCRL1	51554	broad.mit.edu	37	3	132319273	132319273	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:132319273A>C	uc003eow.3	+	1	115	c.32A>C	c.(31-33)tAt>tCt	p.Y11S	NPHP3_uc003eov.4_Intron|NPHP3_uc011blr.1_Intron|CCRL1_uc003eox.3_Missense_Mutation_p.Y11S	NM_016557	NP_848540	Q9NPB9	CCRL1_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 1 (CCRL1), transcript variant 2, mRNA.	11					chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity			breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17						TCAACAGATTATTATTATGAG	0.343000													64	112					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105406110	105406110	+	Silent	SNP	A	A	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:105406110A>C	uc010axc.1	-	6	15798	c.15678T>G	c.(15676-15678)ggT>ggG	p.G5226G	AHNAK2_uc021sen.1_Silent_p.G623G|AHNAK2_uc021seo.1_Silent_p.G224G|AHNAK2_uc001ypx.2_Silent_p.G5126G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5226						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)			CTGCTGCTTCACCCCCTGTTG	0.572000													4	52					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124209630	124209630	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:124209630C>T	uc003ehg.3	+	29	4607	c.4480C>T	c.(4480-4482)Cgg>Tgg	p.R1494W	KALRN_uc010hrv.1_Missense_Mutation_p.R1485W|KALRN_uc003ehf.1_Missense_Mutation_p.R1494W|KALRN_uc011bjy.1_Missense_Mutation_p.R1485W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1494	PH 1.				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	p.R1494Q(1)		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						CCGGAAGGGGCGGGAGCGGCA	0.488000													4	51					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24469667	24469667	+	Splice_Site	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:24469667A>G	uc002rfe.2	-	28	3643	c.3385_splice	c.e28+1	p.V1129_splice	ITSN2_uc002rff.2_Splice_Site_p.V1102_splice|ITSN2_uc002rfg.3_Splice_Site_p.V1129_splice|ITSN2_uc002rfh.1_Splice_Site	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1129	SH3 5.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCCATACCAGGATGAAAGG	0.383000													27	24					0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97918668	97918668	+	Silent	SNP	A	A	G	rs116390570	by1000genomes	TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:97918668A>G	uc001klp.3	+	5	3446	c.2589A>G	c.(2587-2589)aaA>aaG	p.K863K	ZNF518A_uc001klo.1_Silent_p.K333K|ZNF518A_uc001klq.3_Silent_p.K863K|ZNF518A_uc001klr.3_Silent_p.K863K	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GAAAAGAAAAACAAGTGTCAT	0.378000													3	64					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113120585	113120585	+	Splice_Site	SNP	A	A	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:113120585A>C	uc003ead.2	-	10	1238	c.1171_splice	c.e10-1	p.I391_splice	WDR52_uc003eae.2_Splice_Site_p.I391_splice	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	391										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AAAATCCCATATCTTGTAAAA	0.308000													27	40					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681816	91681816	+	Silent	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:91681816C>T	uc001xyw.2	+	12	1984	c.1632C>T	c.(1630-1632)caC>caT	p.H544H	C14orf159_uc001xyz.2_Silent_p.H415H|C14orf159_uc001xzb.2_Silent_p.H539H|C14orf159_uc001xyx.2_Silent_p.H487H|C14orf159_uc001xzc.2_Silent_p.H539H|C14orf159_uc001xza.2_Silent_p.H544H|C14orf159_uc001xyv.2_Silent_p.H504H|C14orf159_uc001xze.2_Silent_p.H539H	NM_001102368	NP_001095838	Q7Z3D6	CN159_HUMAN	Homo sapiens chromosome 14 open reading frame 159 (C14orf159), transcript variant 4, mRNA.	539						mitochondrion		p.R544R(1)|p.L543L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GTGCTGTCCACAGTCAGTACC	0.552000													35	47					0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3954873	3954873	+	RNA	SNP	A	A	T	rs61082048	by1000genomes	TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr4:3954873A>T	uc011bvu.2	-	1		c.126T>A			FAM86EP_uc003ghn.3_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		TCAGAATCTGATGAGTCTCTT	0.473000													3	57					0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394482	39394482	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr17:39394482T>C	uc002hwh.4	+	0	213	c.179T>C	c.(178-180)aTc>aCc	p.I60T		NM_031963	NP_114169	Q9BYQ0	KRA98_HUMAN	Homo sapiens keratin associated protein 9-8 (KRTAP9-8), mRNA.	60	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCCAGCCCATCTGTGTGACC	0.637000													5	166					0	0	1	0	0
CIDEB	27141	broad.mit.edu	37	14	24775587	24775587	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:24775587G>C	uc001won.3	-	2	453	c.329C>G	c.(328-330)cCt>cGt	p.P110R	CIDEB_uc001woo.3_Missense_Mutation_p.P110R|CIDEB_uc001wop.3_Missense_Mutation_p.P110R	NM_014430	NP_055245	Q9UHD4	CIDEB_HUMAN	Homo sapiens cell death-inducing DFFA-like effector b (CIDEB), mRNA.	110	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		TACCCTTGTAGGGCTCCAGCT	0.562000													39	79					0	0	1	0	0
FBXO47	494188	broad.mit.edu	37	17	37099134	37099134	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr17:37099134A>G	uc002hrc.2	-	8	1180	c.980T>C	c.(979-981)cTc>cCc	p.L327P		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	327										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TAGCATTAGGAGACGTGCATT	0.403000													25	51					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131021446	131021446	+	Splice_Site	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr9:131021446C>T	uc011maw.2	-	19	2029	c.2016_splice	c.e19+1	p.Q672_splice	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_Splice_Site_p.Q145_splice|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	672						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ACTCCCTCACCTGGGTTTCCT	0.632000													7	15					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811995	73811995	+	Silent	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chrX:73811995G>T	uc004ebu.3	-	4	1445	c.1155C>A	c.(1153-1155)ccC>ccA	p.P385P	RLIM_uc004ebw.3_Silent_p.P385P	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	385					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTACGAATGGGAATTCTGA	0.413000													4	64					0.00024832	0.000260052	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109807154	109807154	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:109807154G>A	uc001dxa.4	+	10	5429	c.5368G>A	c.(5368-5370)Ggc>Agc	p.G1790S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1790	Laminin G-like 2.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTGGAGCAAGGCTGTAGCCT	0.587000													36	63					0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78036838	78036838	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:78036838C>A	uc001xub.3	-	4	833	c.645G>T	c.(643-645)aaG>aaT	p.K215N		NM_004863	NP_004854	O15270	SPTC2_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA.	215						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GTTCTTCATGCTTGTCCAGGT	0.368000													22	34					5.09552e-08	5.3786e-08	1	1	0
MARK2	2011	broad.mit.edu	37	11	63671476	63671476	+	Silent	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:63671476C>G	uc001nxw.3	+	14	2112	c.1533C>G	c.(1531-1533)tcC>tcG	p.S511S	MARK2_uc001nxv.4_Intron|MARK2_uc001nxx.3_Intron|MARK2_uc001nxy.3_Intron|MARK2_uc001nxz.4_Silent_p.S477S|MARK2_uc009yoy.3_Intron	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	511					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TGCCAGGGTCCCGGGCCTCCA	0.652000													9	17					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10066562	10066562	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chrX:10066562A>C	uc004csx.4	+	7	872	c.674A>C	c.(673-675)aAa>aCa	p.K225T	WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	225										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TTTGATGATAAAACAAGACTT	0.353000													22	9					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009857	46009857	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:46009857C>A	uc011bal.1	-	6	1081	c.969G>T	c.(967-969)gaG>gaT	p.E323D	FYCO1_uc003cpb.4_Missense_Mutation_p.E323D	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	323					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGCTCCTAGCTCCAGGCCCT	0.627000													11	31					0.00829132	0.00854841	1	1	0
GEN1	348654	broad.mit.edu	37	2	17962535	17962535	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:17962535C>G	uc002rct.2	+	13	2129	c.2056C>G	c.(2056-2058)Cag>Gag	p.Q686E	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.Q686E|GEN1_uc002rcu.2_Missense_Mutation_p.Q686E	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	686					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATCATATCCTCAGGATAATCT	0.348000								Homologous recombination					40	46					0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215790	8215790	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr17:8215790T>G	uc002glc.3	+	1	588	c.433T>G	c.(433-435)Tca>Gca	p.S145A	ARHGEF15_uc002glb.2_Missense_Mutation_p.S145A|ARHGEF15_uc002gld.3_Missense_Mutation_p.S145A|ARHGEF15_uc010vuw.2_Missense_Mutation_p.S145A	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	145					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TGGCTCTGCCTCAGCTCCTGG	0.672000													31	32					0	0	1	0	0
STT3A	3703	broad.mit.edu	37	11	125478106	125478106	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:125478106T>G	uc001qcd.2	+	8	993	c.883T>G	c.(883-885)Ttt>Gtt	p.F295V	STT3A_uc009zbm.2_Missense_Mutation_p.F295V|STT3A_uc001qce.2_Missense_Mutation_p.F295V|STT3A_uc010sbg.1_Missense_Mutation_p.F203V|STT3A_uc009zbn.2_Missense_Mutation_p.F69V	NM_152713	NP_689926	P46977	STT3A_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog A (S. cerevisiae) (STT3A), mRNA.	295					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		TCCACAACAATTTGAAGTTCT	0.507000													36	41					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383200	39383200	+	Silent	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr5:39383200A>G	uc003jlx.3	-	9	1392	c.861T>C	c.(859-861)ttT>ttC	p.F287F	DAB2_uc003jlw.3_Silent_p.F266F	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	287					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)			TAGGGGTGGGAAAGAAGTTGA	0.473000													5	128					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32038155	32038155	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:32038155C>T	uc003nzl.2	-	13	5229	c.5027G>A	c.(5026-5028)cGc>cAc	p.R1676H		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1758	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCAAGGCGGGGTGGGGC	0.597000													21	34					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309141	38309141	+	Missense_Mutation	SNP	C	C	G	rs148324626		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr21:38309141C>G	uc010gnb.3	-	4	2018	c.604G>C	c.(604-606)Gag>Cag	p.E202Q	HLCS_uc021wjb.1_Missense_Mutation_p.E202Q|HLCS_uc002yvs.3_Missense_Mutation_p.E202Q|HLCS_uc010gnc.2_Missense_Mutation_p.E349Q	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	202					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GCACTGTCCTCCAGCAGGTGG	0.582000													50	90					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096528	97096528	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:97096528T>G	uc001kkp.3	-	27	3434	c.3389A>C	c.(3388-3390)aAa>aCa	p.K1130T	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Missense_Mutation_p.K989T|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.K1084T|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1130					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CCTCTCTGCTTTCCTCTCATA	0.552000													41	54					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24581079	24581079	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr16:24581079A>T	uc002dmh.3	+	16	4108	c.3068A>T	c.(3067-3069)aAt>aTt	p.N1023I	RBBP6_uc010vcb.1_Missense_Mutation_p.N890I|RBBP6_uc002dmi.3_Missense_Mutation_p.N989I|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.N856I	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1023	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAACGGAAGAATGATGGATCT	0.383000													21	38					0	0	1	0	0
BC043529	0	broad.mit.edu	37	17	20860024	20860024	+	Splice_Site	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr17:20860024T>G	uc002gyk.1	+	4		c.698_splice	c.e4+2							Homo sapiens hypothetical protein LOC339260, mRNA (cDNA clone IMAGE:5168338), partial cds.																		TCCTCCAAGGTAAATGCTCCT	0.468000													7	10					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49509272	49509272	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr20:49509272A>G	uc002xvt.1	-	4	2324	c.1979T>C	c.(1978-1980)cTc>cCc	p.L660P	ADNP_uc002xvu.1_Missense_Mutation_p.L660P	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	660						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTTGTAGGTGAGCTTTTTCTC	0.458000													80	96					0	0	1	0	0
MTERFD3	80298	broad.mit.edu	37	12	107371368	107371368	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr12:107371368A>C	uc001tme.1	-	1	2944	c.1125T>G	c.(1123-1125)ttT>ttG	p.F375L	MTERFD3_uc001tmf.1_Missense_Mutation_p.F375L|MTERFD3_uc001tmg.1_Missense_Mutation_p.F375L|MTERFD3_uc021rdh.1_Missense_Mutation_p.F375L|MTERFD3_uc001tmh.1_Missense_Mutation_p.F375L	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CCACAGGGTTAAATAATGGCC	0.353000													48	40					0	0	1	0	0
FAM86EP	348926	broad.mit.edu	37	4	3954878	3954878	+	RNA	SNP	T	T	C	rs58515458	by1000genomes	TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr4:3954878T>C	uc011bvu.2	-	1		c.121A>G			FAM86EP_uc003ghn.3_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		ATCTGATGAGTCTCTTAACTT	0.473000													3	59					0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	275007	275007	+	Silent	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr12:275007G>A	uc001qhw.2	+	10	2922	c.2922G>A	c.(2920-2922)ctG>ctA	p.L974L	IQSEC3_uc001qhu.1_Silent_p.L671L	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	974	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGAGGACCTGAAGGAGTCCA	0.602000													80	69					0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47353765	47353765	+	Silent	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:47353765G>A	uc021qis.1	-	32	3727	c.3672C>T	c.(3670-3672)gaC>gaT	p.D1224D	MYBPC3_uc021qir.1_Silent_p.D876D	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	1223	Ig-like C2-type 7.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGAAGCGGGCGTCTTCTCCCA	0.557000													3	73					0	0	1	0	0
DAPK2	23604	broad.mit.edu	37	15	64200745	64200745	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr15:64200745G>A	uc002amr.3	-	11	1118	c.1087C>T	c.(1087-1089)Cca>Tca	p.P363S	DAPK2_uc010uim.2_Non-coding_Transcript	NM_014326	NP_055141	Q9UIK4	DAPK2_HUMAN	Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA.	363					apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		CTCCTCCGTGGGTGGAGGGCT	0.602000													10	29					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28966661	28966661	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr18:28966661T>A	uc002kwr.2	+	2	230	c.95T>A	c.(94-96)tTt>tAt	p.F32Y	DSG4_uc002kwq.2_Missense_Mutation_p.F32Y	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	32					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)			GTGAAGGAATTTGACATTGAA	0.393000													53	74					0	0	1	0	0
STK24	8428	broad.mit.edu	37	13	99127511	99127511	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr13:99127511G>T	uc001vnm.1	-	3	703	c.468C>A	c.(466-468)gaC>gaA	p.D156E	STK24_uc001vnn.1_Missense_Mutation_p.D144E|STK24_uc010tim.1_Missense_Mutation_p.D125E	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	156	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TACCTTTAATGTCTCTGTGGA	0.443000													18	77					0.00278032	0.00288893	1	1	0
TRPM6	140803	broad.mit.edu	37	9	77448994	77448994	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr9:77448994G>A	uc004ajl.1	-	5	827	c.589C>T	c.(589-591)Cat>Tat	p.H197Y	TRPM6_uc004ajk.1_Missense_Mutation_p.H192Y|TRPM6_uc022bib.1_Missense_Mutation_p.H192Y|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.H197Y|TRPM6_uc010mpd.1_Missense_Mutation_p.H197Y|TRPM6_uc010mpe.1_Missense_Mutation_p.H197Y|TRPM6_uc004ajn.1_Missense_Mutation_p.H197Y	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	197					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCAAGGAATGAGAGGAATGG	0.408000													4	131					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836183	247836183	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:247836183G>A	uc001idi.1	-	0	161	c.161C>T	c.(160-162)aCg>aTg	p.T54M		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T54M(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATACATGGGCGTATGCAAGGT	0.423000													15	84					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	40869	40869	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chrGL000218.1:40869G>A	uc011mfn.2	-	2	150	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	LOC100233156_uc003jah.2_Missense_Mutation_p.R21C					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		GAGGCGCTGCGGGGCTGGGGA	0.682000													3	7					0	0	1	0	0
C9orf78	51759	broad.mit.edu	37	9	132593305	132593305	+	Silent	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr9:132593305G>T	uc004byp.3	-	5	459	c.387C>A	c.(385-387)atC>atA	p.I129I	C9orf78_uc004byo.3_Silent_p.I54I|C9orf78_uc004byq.1_Silent_p.I75I	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	Homo sapiens chromosome 9 open reading frame 78 (C9orf78), mRNA.	129										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CATGTTCCACGATCCCTTTCC	0.478000													39	63					2.45108e-15	2.71661e-15	1	1	0
ACTR10	55860	broad.mit.edu	37	14	58680398	58680398	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:58680398G>C	uc001xdf.3	+	5	603	c.500G>C	c.(499-501)gGa>gCa	p.G167A	C14orf37_uc010tro.2_Intron|ACTR10_uc021rtr.1_5'UTR|ACTR10_uc010trp.2_Non-coding_Transcript|ACTR10_uc010apc.3_5'UTR	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	Homo sapiens actin-related protein 10 homolog (S. cerevisiae) (ACTR10), mRNA.	167						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTACCCCTAGGAGGAAAAGCT	0.363000													12	9					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46342224	46342224	+	Missense_Mutation	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr12:46342224T>C	uc001rox.3	-	4	681	c.394A>G	c.(394-396)Ata>Gta	p.I132V	SCAF11_uc001roy.1_Missense_Mutation_p.I206V	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	132					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACTAACCTTATACAGCTTTTA	0.308000													10	9					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400337	89400337	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr15:89400337T>A	uc010upo.1	+	11	4895	c.4521T>A	c.(4519-4521)agT>agA	p.S1507R	ACAN_uc010upp.1_Missense_Mutation_p.S1507R|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1507					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGGATGTCAGTGAACTTCCTT	0.493000													7	26					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3508641	3508641	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr18:3508641G>A	uc002kmf.3	-	10	3025	c.2498C>T	c.(2497-2499)aCc>aTc	p.T833I	DLGAP1_uc010wyz.2_Missense_Mutation_p.T833I|DLGAP1_uc010dkn.3_Missense_Mutation_p.T541I|DLGAP1_uc002kme.2_Missense_Mutation_p.T531I|DLGAP1_uc010wyw.2_Missense_Mutation_p.T539I|DLGAP1_uc010wyx.2_Missense_Mutation_p.T555I|DLGAP1_uc010wyy.2_Missense_Mutation_p.T517I|DLGAP1_uc002kmg.3_Missense_Mutation_p.T531I	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	833					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCCCACTGCGGTTCGGATTTT	0.413000													19	34					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241725900	241725900	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:241725900C>T	uc010fzk.3	-	5	707	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	KIF1A_uc002vzy.3_Missense_Mutation_p.V154I|KIF1A_uc002vzz.2_Missense_Mutation_p.V154I	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	154	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.R153H(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGGTCACGGACGCGCTCACAG	0.652000													15	173					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186435425	186435425	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:186435425G>T	uc011bsa.2	+	0	328	c.94G>T	c.(94-96)Gat>Tat	p.D32Y	KNG1_uc003fqr.3_Missense_Mutation_p.D32Y|KNG1_uc021xil.1_Missense_Mutation_p.D32Y	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	32	Cystatin 1.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CAATGACAAGGATTTATTTAA	0.393000													29	99					5.8336e-16	6.51991e-16	1	1	0
MMP17	4326	broad.mit.edu	37	12	132334421	132334421	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr12:132334421C>T	uc001ujc.1	+	8	1378	c.1279C>T	c.(1279-1281)Ccg>Tcg	p.P427S	MMP17_uc001ujd.1_Missense_Mutation_p.P343S	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	427	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CTTCAGCCTCCCGCCTGGCGG	0.587000													67	156					0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79518169	79518169	+	Silent	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr17:79518169A>G	uc002kaq.3	-	2	424	c.351T>C	c.(349-351)ccT>ccC	p.P117P	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_5'UTR	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	117					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)			CGGGGTCCACAGGGATCACGG	0.647000													101	328					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92599961	92599961	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:92599961T>A	uc001pdj.4	+	20	11730	c.11713T>A	c.(11713-11715)Ttg>Atg	p.L3905M	FAT3_uc001pdi.4_Missense_Mutation_p.L345M	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3905	Laminin G-like.				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)				CCCTGGAATCTTGGGCATCTC	0.592000										TCGA Ovarian(4;0.039)			31	47					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108288411	108288411	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:108288411C>T	uc003dxb.4	-	8	1207	c.938G>A	c.(937-939)cGc>cAc	p.R313H	KIAA1524_uc010hpv.1_5'Flank|KIAA1524_uc003dxc.1_Missense_Mutation_p.R154H|KIAA1524_uc010hpw.1_Missense_Mutation_p.R154H	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	313						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGCATATGGCGCAGCTGAGT	0.418000													89	136					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964010	7964010	+	Silent	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr19:7964010T>G	uc002mir.3	+	2	704	c.603T>G	c.(601-603)ggT>ggG	p.G201G		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	201						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CAGGGGAGGGTGAGAAGGAGA	0.642000													7	58					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110922202	110922202	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:110922202A>T	uc002tfn.4	-	7	928	c.834T>A	c.(832-834)aaT>aaA	p.N278K	NPHP1_uc002tfm.4_Intron|NPHP1_uc002tfl.4_Missense_Mutation_p.N278K|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Intron|NPHP1_uc010fjv.1_Intron	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	278					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TCTCCATCCTATTTCGCATCA	0.463000													27	76					0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71702003	71702003	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr4:71702003A>G	uc010iia.1	-	1	469	c.386T>C	c.(385-387)cTt>cCt	p.L129P	GRSF1_uc011caz.1_Missense_Mutation_p.L11P|GRSF1_uc003hfs.2_5'UTR	NM_002092	NP_001091947	Q12849	GRSF1_HUMAN	Homo sapiens G-rich RNA sequence binding factor 1 (GRSF1), transcript variant 1, mRNA.	129	RRM 1.				mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GGGTGGTGGAAGGTCTTCCAG	0.413000													34	78					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39880152	39880152	+	Silent	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:39880152A>T	uc009vvt.1	+	0	4977	c.4215A>T	c.(4213-4215)gtA>gtT	p.V1405V	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	1269										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	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)			CAGATGAGGTAATTGTCCATT	0.443000													17	50					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8607801	8607801	+	Silent	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr4:8607801G>C	uc003glm.3	+	4	969	c.795G>C	c.(793-795)ctG>ctC	p.L265L	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.L254L|CPZ_uc003gln.3_Silent_p.L128L	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	265					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						CCCAGTACCTGTGCTCTGAGT	0.607000													51	102					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150531493	150531493	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:150531493G>T	uc009wlw.3	+	15	2842	c.2684G>T	c.(2683-2685)aGt>aTt	p.S895I	ADAMTSL4_uc001eux.3_Missense_Mutation_p.S872I|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.S833I|ADAMTSL4_uc009wlx.3_Missense_Mutation_p.S35I	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	872	TSP type-1 4.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|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;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCCTTGGGAGTGGGGCAGCC	0.692000													12	7					1.67942e-08	1.7869e-08	1	1	0
ANK1	286	broad.mit.edu	37	8	41582026	41582026	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr8:41582026T>G	uc003xok.3	-	6	743	c.659A>C	c.(658-660)aAc>aCc	p.N220T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.N220T|ANK1_uc003xoj.3_Missense_Mutation_p.N220T|ANK1_uc003xol.3_Missense_Mutation_p.N220T|ANK1_uc003xom.3_Missense_Mutation_p.N253T	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	220	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTGGGCCACGTTGAGGTTCTC	0.572000													4	26					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9524704	9524704	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr18:9524704C>G	uc002kob.3	+	4	1389	c.1166C>G	c.(1165-1167)cCc>cGc	p.P389R	RALBP1_uc002koc.3_Missense_Mutation_p.P389R	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	389					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	p.M388L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GCCACGATGCCCACGCTGCCA	0.537000													34	62					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949793	45949793	+	Silent	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr21:45949793G>A	uc002zfe.1	-	4	744	c.678C>T	c.(676-678)acC>acT	p.T226T	TSPEAR_uc010gpv.1_Silent_p.T158T	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	226					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACAGCCTTGGGGTGGCGTCTG	0.662000													10	10					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59139573	59139573	+	Silent	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr15:59139573A>T	uc002afj.3	+	6	1648	c.1446A>T	c.(1444-1446)gtA>gtT	p.V482V	FAM63B_uc002afi.3_Silent_p.V482V|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.	482										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						TACACAACGTAGATGGTGATG	0.388000													15	24					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152938463	152938463	+	Splice_Site	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chrX:152938463C>G	uc011myu.2	-	2	503	c.317_splice	c.e2+1	p.S106_splice	PNCK_uc011myt.2_Splice_Site_p.S40_splice|PNCK_uc004fhz.4_Splice_Site|PNCK_uc010nuh.2_Splice_Site_p.S106_splice|PNCK_uc011myv.2_5'UTR|PNCK_uc011myw.2_5'UTR	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	23	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					cgcacactcacGAGCCGAGCC	0.592000													47	8					0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22697819	22697819	+	RNA	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr22:22697819C>T	uc021wml.1	+	40		c.4364C>T								Parts of antibodies, mostly variable regions.																		CTGGGAGCCTCGGTCACACTC	0.597000											OREG0026357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	52					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6557067	6557067	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:6557067T>G	uc001iji.1	-	0	214	c.130A>C	c.(130-132)Aac>Cac	p.N44H	PRKCQ_uc001ijj.2_Missense_Mutation_p.N11H|PRKCQ_uc009xim.2_Missense_Mutation_p.N11H|PRKCQ_uc009xin.2_5'UTR|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	11	C2.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CAGTCAAAGTTGGACAAGCCA	0.488000													5	62					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48054486	48054486	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chrX:48054486G>T	uc004diz.1	-	2	202	c.149C>A	c.(148-150)gCc>gAc	p.A50D	SSX5_uc004dja.1_Intron	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	23	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.P49Q(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						AATGCTGCTGGCTGGCTCTCT	0.522000													5	187					0.0215528	0.0218818	1	1	0
ADCY3	109	broad.mit.edu	37	2	25051028	25051028	+	Silent	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:25051028G>A	uc010ykm.2	-	12	2374	c.2175C>T	c.(2173-2175)ctC>ctT	p.L725L	ADCY3_uc002rfr.4_Intron|ADCY3_uc002rfs.4_Silent_p.L725L	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	725					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGAGACAGCTGAGCTGGAGGC	0.602000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	74	54					0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46103806	46103806	+	Silent	SNP	C	C	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr17:46103806C>G	uc002imy.3	-	10	628	c.615G>C	c.(613-615)tcG>tcC	p.S205S		NM_016429	NP_057513	Q9P299	COPZ2_HUMAN	Homo sapiens coatomer protein complex, subunit zeta 2 (COPZ2), mRNA.	207					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat|cis-Golgi network				lung(3)|upper_aerodigestive_tract(1)	4						ATTTCAATAACGACCATTTAA	0.507000											OREG0024510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	31					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38418272	38418272	+	Silent	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr5:38418272C>A	uc003jlc.2	+	11	1945	c.1599C>A	c.(1597-1599)ggC>ggA	p.G533G	EGFLAM_uc003jlb.2_Silent_p.G533G|EGFLAM_uc003jle.2_Silent_p.G299G|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	533	Laminin G-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GCTTTCAAGGCTGTGTGCAGT	0.542000													25	68					1.99505e-19	2.26788e-19	1	1	0
BBS9	27241	broad.mit.edu	37	7	33380559	33380559	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr7:33380559G>C	uc003tdn.1	+	10	1762	c.1249G>C	c.(1249-1251)Gtt>Ctt	p.V417L	BBS9_uc003tdo.1_Missense_Mutation_p.V417L|BBS9_uc003tdp.1_Missense_Mutation_p.V417L|BBS9_uc003tdq.1_Missense_Mutation_p.V417L|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kao.1_Missense_Mutation_p.V295L	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	417					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTGTCGTGGTTTCTCCTAA	0.338000									Bardet-Biedl syndrome				23	43					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27660178	27660178	+	Missense_Mutation	SNP	A	A	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:27660178A>T	uc002rko.3	+	10	1686	c.854A>T	c.(853-855)cAg>cTg	p.Q285L	NRBP1_uc002rkp.3_Missense_Mutation_p.Q285L|NRBP1_uc002rkr.3_Missense_Mutation_p.Q76L	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	285	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TATGTGCCACAGGAAGCCATC	0.463000													171	131					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78362359	78362359	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr12:78362359A>G	uc001syp.3	+	4	721	c.548A>G	c.(547-549)aAg>aGg	p.K183R	NAV3_uc001syo.3_Missense_Mutation_p.K183R	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	183	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTCGCTACAAGCAGCAACAA	0.403000										HNSCC(70;0.22)			4	204					0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65775557	65775557	+	Silent	SNP	C	C	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:65775557C>T	uc001dce.1	+	0	330	c.129C>T	c.(127-129)gcC>gcT	p.A43A	DNAJC6_uc001dcc.1_Intron|DNAJC6_uc001dcd.1_Intron|DNAJC6_uc010opc.1_Intron	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	658	3 X 4 AA approximate tandem repeats.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GAGTGAACGCCGGGGCAGCGG	0.667000													20	26					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46254225	46254225	+	Splice_Site	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr20:46254225G>A	uc002xtk.3	+	5	618	c.357_splice	c.e5+1	p.Q119_splice	NCOA3_uc002xtl.3_Splice_Site_p.Q119_splice|NCOA3_uc002xtn.3_Splice_Site_p.Q119_splice|NCOA3_uc010ght.2_Splice_Site_p.Q119_splice|NCOA3_uc002xtm.3_Splice_Site_p.Q119_splice|NCOA3_uc010zyc.2_5'Flank	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	119	PAS.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTTACTTCAGGCAAGTATAA	0.343000													9	21					0	0	1	0	0
RFX8	731220	broad.mit.edu	37	2	102014128	102014128	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:102014128G>T	uc010yvx.1	-	11	1424	c.1304C>A	c.(1303-1305)cCt>cAt	p.P435H	RFX8_uc002tbb.1_Missense_Mutation_p.P264H	NM_001145664	NP_001139136	Q6ZV50	RFX8_HUMAN	Homo sapiens regulatory factor X, 8 (RFX8), mRNA.	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|stomach(1)	3						TTGTCCCATAGGAAGGCTGAG	0.403000													35	87					2.64894e-19	2.98567e-19	1	1	0
MDN1	23195	broad.mit.edu	37	6	90459294	90459294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:90459294G>A	uc003pnn.1	-	24	3699	c.3583C>T	c.(3583-3585)Caa>Taa	p.Q1195*		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1195					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGGGGATTTTGGGTGGCAAAA	0.413000													48	51					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561570	15561570	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr21:15561570G>A	uc002yjm.3	-	1	290	c.280C>T	c.(280-282)Caa>Taa	p.Q94*	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Nonsense_Mutation_p.Q73*|LIPI_uc021whh.1_Nonsense_Mutation_p.Q73*|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Nonsense_Mutation_p.Q73*|LIPI_uc021whe.1_Nonsense_Mutation_p.Q73*|LIPI_uc021whf.1_Nonsense_Mutation_p.Q73*	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	73					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GTTTTCTTTTGTGTGTTGAAA	0.378000													30	74					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55600213	55600213	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:55600213C>A	uc010qhy.1	-	29	4260	c.3865G>T	c.(3865-3867)Gtc>Ttc	p.V1289F	PCDH15_uc010qhq.2_Missense_Mutation_p.V1289F|PCDH15_uc010qhr.2_Missense_Mutation_p.V1284F|PCDH15_uc021pqv.1_Missense_Mutation_p.V1284F|PCDH15_uc021pqw.1_Missense_Mutation_p.V1296F|PCDH15_uc010qht.2_Missense_Mutation_p.V1291F|PCDH15_uc021pqx.1_Missense_Mutation_p.V1284F|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.V1284F|PCDH15_uc021pqz.1_Missense_Mutation_p.V1262F|PCDH15_uc010qhv.1_Missense_Mutation_p.V1284F|PCDH15_uc010qhw.1_Missense_Mutation_p.V1247F|PCDH15_uc010qhx.1_Missense_Mutation_p.V1213F|PCDH15_uc010qhz.1_Missense_Mutation_p.V1284F|PCDH15_uc010qia.1_Missense_Mutation_p.V1262F|PCDH15_uc001jju.1_Missense_Mutation_p.V1284F|PCDH15_uc010qib.1_Missense_Mutation_p.V1262F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1284					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCCACTACGACCTTGGCACCA	0.448000										HNSCC(58;0.16)			35	53					2.2871e-25	2.62227e-25	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7527336	7527336	+	Silent	SNP	G	G	T			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr12:7527336G>T	uc010sge.2	-	12	3167	c.3141C>A	c.(3139-3141)cgC>cgA	p.R1047R	CD163L1_uc001qsy.3_Silent_p.R1037R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1037	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.G1047W(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CATCCACTAGGCGGAGCCGTT	0.522000											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	119					8.78508e-14	9.57718e-14	1	1	0
DSG2	1829	broad.mit.edu	37	18	29116286	29116286	+	Silent	SNP	T	T	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr18:29116286T>C	uc002kwu.4	+	10	1733	c.1545T>C	c.(1543-1545)gtT>gtC	p.V515V		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	515			V -> I (in dbSNP:rs2230235).		cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATGTGAATGTTACTGCAGAGG	0.483000													26	57					0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122161975	122161975	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:122161975G>C	uc002tnc.3	-	25	3095	c.2705C>G	c.(2704-2706)aCt>aGt	p.T902S	CLASP1_uc010yyv.2_5'UTR|CLASP1_uc002tmz.3_5'UTR|CLASP1_uc002tna.3_5'UTR|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.T882S|CLASP1_uc010yza.2_Missense_Mutation_p.T874S|CLASP1_uc021vnl.1_Missense_Mutation_p.T880S|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.T873S	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	902					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AAACATCCGAGTGAAGATCTC	0.408000													31	88					0	0	1	0	0
ELL3	80237	broad.mit.edu	37	15	44066413	44066413	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr15:44066413A>C	uc001zsw.1	-	8	1408	c.1005T>G	c.(1003-1005)atT>atG	p.I335M	ELL3_uc001zsv.1_Missense_Mutation_p.I289M|ELL3_uc001zsx.1_Missense_Mutation_p.I220M|SERF2_uc001zsy.3_5'Flank|SERF2_uc001zsz.4_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	Homo sapiens elongation factor RNA polymerase II-like 3 (ELL3), mRNA.	335					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAACTCTTTTAATCTCTGCTC	0.512000													46	60					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19482811	19482811	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:19482811G>A	uc001bbi.3	-	41	6030	c.6026C>T	c.(6025-6027)cCt>cTt	p.P2009L	UBR4_uc001bbl.1_5'UTR|UBR4_uc001bbm.1_Missense_Mutation_p.P1220L	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2009					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGTGAACCAGGTAACCACAC	0.438000													119	200					0	0	1	0	0
LAMTOR2	28956	broad.mit.edu	37	1	156027791	156027791	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:156027791delG	uc001fnb.3	+	2	418	c.254delG	c.(253-255)cgafs	p.R85fs	LAMTOR2_uc010pgy.1_Intron	NM_014017	NP_054736	Q9Y2Q5	LTOR2_HUMAN	Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 (LAMTOR2), transcript variant 1, mRNA.	85					cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex|lysosomal membrane				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						GCCATCACCCGAGTGGCCAAC	0.577													118	199	---	---	---	---					
MIR205HG	642587	broad.mit.edu	37	1	209605637	209605648	+	In_Frame_Del	DEL	AGCAGCAGCAGC	AGCAGCAGCAGC	-	rs71812884		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr1:209605637_209605648delAGCAGCAGCAGC	uc009xcn.3	+	3	635_646	c.252_263delAGCAGCAGCAGC	c.(250-264)gtagcagcagcagca>gta	p.AAAA93del		NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		ccaccaccgTagcagcagcagcagcagcagca	0.561													8	26	---	---	---	---					
RANBP2	5903	broad.mit.edu	37	2	109380179	109380179	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr2:109380179delA	uc002tem.4	+	19	3310	c.3184delA	c.(3184-3186)aacfs	p.N1062fs		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1062					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGCTTACAGTAACAGTGAAAG	0.443													53	57	---	---	---	---					
IFT122	55764	broad.mit.edu	37	3	129214436	129214436	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:129214436delT	uc003eml.3	+	18	2553	c.2347delT	c.(2347-2349)tttfs	p.F783fs	IFT122_uc003emm.3_Frame_Shift_Del_p.F732fs|IFT122_uc003emn.3_Frame_Shift_Del_p.F673fs|IFT122_uc003emo.3_Frame_Shift_Del_p.F621fs|IFT122_uc003emp.3_Frame_Shift_Del_p.F582fs|IFT122_uc010htc.3_Frame_Shift_Del_p.F724fs|IFT122_uc011bky.2_Frame_Shift_Del_p.F523fs|IFT122_uc011bla.2_Frame_Shift_Del_p.F505fs|IFT122_uc003emr.3_Frame_Shift_Del_p.F484fs|IFT122_uc010hte.3_Intron|IFT122_uc003ems.3_Frame_Shift_Del_p.F113fs|IFT122_uc011bkx.1_Frame_Shift_Del_p.F572fs|IFT122_uc010htd.1_Frame_Shift_Del_p.F211fs	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	732					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						CCTCTGCATGTTTGAGTATGC	0.537													114	139	---	---	---	---					
ATP11B	23200	broad.mit.edu	37	3	182607235	182607235	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr3:182607235delT	uc003flb.3	+	24	3138	c.2881delT	c.(2881-2883)tttfs	p.F961fs	ATP11B_uc003flc.3_Frame_Shift_Del_p.F545fs|ATP11B_uc011bqm.1_3'UTR|ATP11B_uc010hxf.1_Frame_Shift_Del_p.F123fs	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	961					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TATTAAAACATTTCTTTATTG	0.328													9	8	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176709581	176709584	+	Splice_Site	DEL	AAGT	AAGT	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr5:176709581_176709584delAAGT	uc003mfr.4	+	19	6147	c.6009_splice	c.e19+1	p.K2003_splice	NSD1_uc003mft.4_Splice_Site_p.K1734_splice|NSD1_uc011dfx.2_Splice_Site_p.K1651_splice	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2003	SET.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ACCCTAGACAAAGTAAGTAATGGG	0.397			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			26	57	---	---	---	---					
KCNK5	8645	broad.mit.edu	37	6	39159405	39159412	+	Frame_Shift_Del	DEL	TTGTGGAC	TTGTGGAC	-	rs13208158	byFrequency	TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:39159405_39159412delTTGTGGAC	uc003oon.3	-	4	1118_1125	c.754_761delGTCCACAA	c.(754-762)gtccacaaafs	p.V252fs		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	252					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CTTAATGGCTTTGTGGACTTCCACAAAC	0.591													20	76	---	---	---	---					
HMGA1P7	387065	broad.mit.edu	37	6	134435682	134435683	+	RNA	INS	-	-	A	rs56803241	by1000genomes	TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:134435682_134435683insA	uc021zfl.1	-	1		c.1617_1618insT								Homo sapiens high mobility group AT-hook 1 pseudogene 7 (HMGA1P7), non-coding RNA.																		AGGTGGCTGCCCAGGGAACCTG	0.599													2	4	---	---	---	---					
ZBTB2	57621	broad.mit.edu	37	6	151686673	151686676	+	Frame_Shift_Del	DEL	TTTC	TTTC	-	rs143773461		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:151686673_151686676delTTTC	uc003qoh.3	-	2	1660_1663	c.1525_1528delGAAA	c.(1525-1530)gaaaccfs	p.E509fs		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E509K(4)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGTAAGACGGTTTCTTGTTCCTTT	0.446													39	92	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs72320253		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr6:170871013_170871014insCAG	uc003qxu.3	+	2	468_469	c.189_190insCAG	c.(187-192)insCAG	p.95_96insQ	TBP_uc011ehf.2_In_Frame_Ins_p.75_76insQ|TBP_uc003qxt.3_In_Frame_Ins_p.95_96insQ|TBP_uc011ehg.1_In_Frame_Ins_p.95_96insQ	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.550													37	50	---	---	---	---					
TAF6	6878	broad.mit.edu	37	7	99711723	99711723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr7:99711723delT	uc003uth.3	-	0	418	c.281delA	c.(280-282)cagfs	p.Q94fs	TAF6_uc003utg.3_5'Flank|TAF6_uc003utm.3_Frame_Shift_Del_p.Q37fs|TAF6_uc003uti.3_Frame_Shift_Del_p.Q37fs|TAF6_uc003utk.3_Frame_Shift_Del_p.Q37fs|TAF6_uc011kji.2_Frame_Shift_Del_p.Q74fs	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	37					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGTTAGCAGCTGGCAGGTCTC	0.582													176	247	---	---	---	---					
GPR123	84435	broad.mit.edu	37	10	134912186	134912187	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr10:134912186_134912187delTT	uc001llw.3	+	12	2334_2335	c.2334_2335delTT	c.(2332-2337)aatttcfs	p.N778fs	GPR123_uc001llx.4_Frame_Shift_Del_p.N58fs			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	58						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CGCTCCTGAATTTCTGCTTCCA	0.658													18	37	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57182802	57182803	+	Frame_Shift_Ins	INS	-	-	TCTG			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:57182802_57182803insTCTG	uc010rjs.1	-	7	1144_1145	c.837_838insCAGA	c.(835-840)agagaafs	p.R279fs	SLC43A3_uc001nke.3_Intron|SLC43A3_uc001nkg.3_Intron|SLC43A3_uc001nkh.3_Intron|SLC43A3_uc010rjr.2_Intron|SLC43A3_uc009yme.3_Intron|SLC43A3_uc001nki.3_Intron|SLC43A3_uc009ymf.1_Intron	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	0					transmembrane transport	integral to membrane		p.R278C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CTGTGTTCTTCTCTATTGAAAT	0.520													2	4	---	---	---	---					
C2CD2L	9854	broad.mit.edu	37	11	118984691	118984704	+	Splice_Site	DEL	TTTCCAAGGTAACA	TTTCCAAGGTAACA	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr11:118984691_118984704delTTTCCAAGGTAACA	uc001pvn.3	+	12	1985	c.1626_splice	c.e12+1	p.K542_splice	C2CD2L_uc001pvo.3_Splice_Site_p.K541_splice	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	541						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						ATCTCTGGTGTTTCCAAGGTAACAGGGCTCTGGG	0.598													30	96	---	---	---	---					
MARK3	4140	broad.mit.edu	37	14	103969341	103969341	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:103969341delG	uc001ymz.4	+	17	2705	c.2039delG	c.(2038-2040)cgcfs	p.R680fs	MARK3_uc001ymx.4_Frame_Shift_Del_p.R671fs|MARK3_uc001ymw.4_Frame_Shift_Del_p.R656fs|MARK3_uc001yna.4_Frame_Shift_Del_p.R640fs|MARK3_uc001ymy.4_Frame_Shift_Del_p.R586fs|MARK3_uc010awp.3_Frame_Shift_Del_p.R679fs|MARK3_uc010tyb.2_Frame_Shift_Del_p.R475fs|MARK3_uc010awq.3_Frame_Shift_Del_p.R253fs|MARK3_uc001ynd.3_Frame_Shift_Del_p.R88fs	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	680							ATP binding|protein binding|protein serine/threonine kinase activity	p.I639_K641del(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CGGGAAATCCGCAAAGTGTTG	0.532													69	134	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106691869	106691869	+	RNA	DEL	C	C	-			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:106691869delC	uc021ser.1	-	1156		c.25124delG								Parts of antibodies, mostly variable regions.																		CCAGTTCATGCTATAGCTACT	0.567													11	142	---	---	---	---					
abParts	0	broad.mit.edu	37	14	106691871	106691872	+	RNA	INS	-	-	G			TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr14:106691871_106691872insG	uc021ser.1	-	1156		c.25121_25122insC								Parts of antibodies, mostly variable regions.																		AGTTCATGCTATAGCTACTGAA	0.564													11	142	---	---	---	---					
SLC32A1	140679	broad.mit.edu	37	20	37353586	37353607	+	Frame_Shift_Del	DEL	GGGCGCTGAAGCGCCCGTCGAG	GGGCGCTGAAGCGCCCGTCGAG	-	rs148951877		TCGA-MH-A55W-01A-11D-A26P-10	TCGA-MH-A55W-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2425a532-f562-423a-88f5-228642f53875	38fa8b8f-1a31-4331-9acc-15e845c9a9b8	g.chr20:37353586_37353607delGGGCGCTGAAGCGCCCGTCGAG	uc002xjc.3	+	0	482_503	c.219_240delGGGCGCTGAAGCGCCCGTCGAG	c.(217-240)gagggcgctgaagcgcccgtcgagfs	p.E73fs		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	73					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	p.E73K(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCGGGGACGAGGGCGCTGAAGCGCCCGTCGAGGGAGACATCC	0.671													33	75	---	---	---	---					
