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
PTDSS2	81490	broad.mit.edu	37	11	488541	488541	+	Missense_Mutation	SNP	G	G	A	rs34809643	byFrequency	TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:488541G>A	ENST00000308020.5	+	8	924	c.748G>A	c.(748-750)Gtg>Atg	p.V250M		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	250						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GATCATGGACGTGCTCGTCTG	0.627000													38	64					0	0	0.834066	0	0
NCK2	8440	broad.mit.edu	37	2	106498068	106498068	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:106498068G>A	ENST00000233154.4	+	4	953	c.511G>A	c.(511-513)Gag>Aag	p.E171K	NCK2_ENST00000393349.2_Missense_Mutation_p.E171K|NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	171					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGAGGTGGACGAGGCGGCTGC	0.657000													26	79					0	0	0.681144	0	0
OR52E4	390081	broad.mit.edu	37	11	5905675	5905675	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:5905675C>G	ENST00000316987.2	+	1	175	c.153C>G	c.(151-153)atC>atG	p.I51M		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTTGTGATCAAAACTGAAC	0.428000													82	290					0	0	0.870114	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66989019	66989019	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:66989019A>C	ENST00000276570.5	+	4	531	c.244A>C	c.(244-246)Aag>Cag	p.K82Q	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	82	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			CATATACGACAAGTACGGATC	0.463000													72	112					0	0	0.870114	0	0
PLEC	5339	broad.mit.edu	37	8	144990620	144990620	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144990620C>T	ENST00000322810.4	-	32	13949	c.13780G>A	c.(13780-13782)Gag>Aag	p.E4594K	PLEC_ENST00000398774.2_Missense_Mutation_p.E4425K|PLEC_ENST00000527096.1_Missense_Mutation_p.E4480K|PLEC_ENST00000354958.2_Missense_Mutation_p.E4435K|PLEC_ENST00000436759.2_Missense_Mutation_p.E4484K|PLEC_ENST00000354589.3_Missense_Mutation_p.E4457K|PLEC_ENST00000356346.3_Missense_Mutation_p.E4443K|PLEC_ENST00000357649.2_Missense_Mutation_p.E4461K|PLEC_ENST00000345136.3_Missense_Mutation_p.E4457K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4594	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCGTGCCCTCCTCCACCATG	0.657000													49	193					0	0	0.870114	0	0
CCDC18	343099	broad.mit.edu	37	1	93649684	93649684	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:93649684A>C	ENST00000343253.7	+	3	786	c.284A>C	c.(283-285)cAa>cCa	p.Q95P	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.Q213P|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.Q95P			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	95										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACTGATTTTCAAAAAAAGCCA	0.308000													17	78					0	0	0.520397	0	0
HERPUD1	9709	broad.mit.edu	37	16	56977167	56977167	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:56977167C>G	ENST00000439977.2	+	8	1338	c.1141C>G	c.(1141-1143)Ctt>Gtt	p.L381V	HERPUD1_ENST00000379792.2_Missense_Mutation_p.L356V|HERPUD1_ENST00000344114.4_Missense_Mutation_p.L222V|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000300302.5_Missense_Mutation_p.L380V	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	381						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTTGCCTCTCTTCTTCCAGA	0.532000			T	ERG	prostate								113	553					0	0	0.870114	0	0
PARK7	11315	broad.mit.edu	37	1	8045049	8045049	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:8045049G>T	ENST00000493678.1	+	7	572	c.505G>T	c.(505-507)Gtt>Ttt	p.V169F	PARK7_ENST00000377493.5_Missense_Mutation_p.V149F|PARK7_ENST00000338639.5_Missense_Mutation_p.V169F|PARK7_ENST00000377491.1_Missense_Mutation_p.V169F|PARK7_ENST00000377488.1_Missense_Mutation_p.V169F			Q99497	PARK7_HUMAN	parkinson protein 7	169					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTGCAATTGTTGAAGCCCT	0.517000													4	117					0.150653	0.153818	0.150653	1	0
IL36B	27177	broad.mit.edu	37	2	113785523	113785523	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:113785523C>T	ENST00000327407.2	-	5	538	c.431G>A	c.(430-432)gGc>gAc	p.G144D	IL36B_ENST00000259213.4_Intron	NM_173178.1	NP_775270.1	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	90					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ATTAGTTATGCCTCTCTCCTT	0.483000													15	79					0	0	0.457914	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95103849	95103849	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:95103849G>A	ENST00000379982.3	+	8	1769	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Missense_Mutation_p.D52N	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	421	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GATGCTTGCCGATGTTGTCTT	0.343000													30	119					0	0	0.769981	0	0
ADAM32	203102	broad.mit.edu	37	8	39089584	39089584	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:39089584C>A	ENST00000379907.4	+	15	1691	c.1564C>A	c.(1564-1566)Caa>Aaa	p.Q522K	ADAM32_ENST00000519315.1_Missense_Mutation_p.Q416K|ADAM32_ENST00000437682.2_Missense_Mutation_p.Q423K	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	522					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGAAGAAATACAATCTCAATC	0.323000													5	124					0.184627	0.186935	0.184627	1	0
OR4A47	403253	broad.mit.edu	37	11	48510955	48510955	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:48510955C>A	ENST00000446524.1	+	1	687	c.611C>A	c.(610-612)gCt>gAt	p.A204D		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GGAGGACTGGCTTGCACTATT	0.443000													121	126					5.67207e-43	6.41076e-43	0.870114	1	0
MCMDC2	157777	broad.mit.edu	37	8	67796029	67796029	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:67796029C>T	ENST00000422365.2	+	9	1044	c.873C>T	c.(871-873)ctC>ctT	p.L291L	MCMDC2_ENST00000313616.5_Silent_p.L291L|MCMDC2_ENST00000541540.1_Silent_p.L228L|MCMDC2_ENST00000396592.3_Silent_p.L291L|MCMDC2_ENST00000492775.1_Silent_p.L291L	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	291					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						GGTGTCTCCTCTCCTTAACTT	0.358000													47	49					0	0	0.870114	0	0
CXCL9	4283	broad.mit.edu	37	4	76927418	76927418	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:76927418A>G	ENST00000264888.5	-	2	112	c.74T>C	c.(73-75)gTa>gCa	p.V25A		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	25					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTCTCACTACTGGGGTTCC	0.443000													106	159					0	0	0.870114	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767612	150767612	+	Silent	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:150767612G>T	ENST00000485713.1	+	11	2558	c.1518G>T	c.(1516-1518)ctG>ctT	p.L506L	SLC4A2_ENST00000310317.5_Silent_p.L424L|SLC4A2_ENST00000461735.1_Silent_p.L492L|SLC4A2_ENST00000413384.2_Silent_p.L506L|SLC4A2_ENST00000392826.2_Silent_p.L497L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	506					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCTGAAACTGCTGGAGAAGA	0.632000													8	15					2.17888e-05	2.30203e-05	0.335167	1	0
PLEC	5339	broad.mit.edu	37	8	144993498	144993498	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993498C>T	ENST00000322810.4	-	32	11071	c.10902G>A	c.(10900-10902)gaG>gaA	p.E3634E	PLEC_ENST00000398774.2_Silent_p.E3465E|PLEC_ENST00000527096.1_Silent_p.E3520E|PLEC_ENST00000354958.2_Silent_p.E3475E|PLEC_ENST00000436759.2_Silent_p.E3524E|PLEC_ENST00000354589.3_Silent_p.E3497E|PLEC_ENST00000356346.3_Silent_p.E3483E|PLEC_ENST00000357649.2_Silent_p.E3501E|PLEC_ENST00000345136.3_Silent_p.E3497E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3634	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCGGTTCATCTCCTCACTGA	0.657000													37	144					0	0	0.819951	0	0
OR6K6	128371	broad.mit.edu	37	1	158724637	158724637	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:158724637C>A	ENST00000368144.2	+	1	128	c.32C>A	c.(31-33)tCc>tAc	p.S11Y		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					AATCAACATTCCAATTATAGG	0.393000													28	87					2.12542e-12	2.29545e-12	0.706142	1	0
IPO9	55705	broad.mit.edu	37	1	201824934	201824934	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:201824934C>G	ENST00000361565.4	+	10	1063	c.994C>G	c.(994-996)Ctc>Gtc	p.L332V		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	332					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CTTTGAAAATCTCGTCTTTAG	0.328000													24	70					0	0	0.681144	0	0
ECHDC1	55862	broad.mit.edu	37	6	127648182	127648182	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:127648182C>T	ENST00000531967.1	-	3	849	c.346G>A	c.(346-348)Gat>Aat	p.D116N	ECHDC1_ENST00000474289.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000368291.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000528402.1_Missense_Mutation_p.D35N|ECHDC1_ENST00000309620.9_Missense_Mutation_p.D110N|ECHDC1_ENST00000454859.3_Missense_Mutation_p.D110N|ECHDC1_ENST00000368289.2_Missense_Mutation_p.D110N|ECHDC1_ENST00000454591.2_Missense_Mutation_p.D35N|ECHDC1_ENST00000430841.2_Missense_Mutation_p.D110N	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	116							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GCATTCAGATCAGATCCTGAA	0.378000													23	138					0	0	0.667858	0	0
GATAD2B	57459	broad.mit.edu	37	1	153788833	153788833	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:153788833G>T	ENST00000368655.4	-	7	1375	c.1132C>A	c.(1132-1134)Cat>Aat	p.H378N		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	378	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAAGAAATGAAGTAAGGGA	0.502000													18	105					5.01169e-05	5.27204e-05	0.520397	1	0
MAP3K8	1326	broad.mit.edu	37	10	30749693	30749693	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:30749693C>T	ENST00000263056.1	+	9	2028	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	MAP3K8_ENST00000375321.1_Silent_p.L444L|MAP3K8_ENST00000542547.1_Silent_p.L444L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	444			Missing (in oncogenic form).		cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AACGCTCTCTCTACATCGACC	0.463000													73	110					0	0	0.870114	0	0
SLC4A2	6522	broad.mit.edu	37	7	150767613	150767613	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:150767613C>T	ENST00000485713.1	+	11	2559	c.1519C>T	c.(1519-1521)Ctg>Ttg	p.L507L	SLC4A2_ENST00000310317.5_Silent_p.L425L|SLC4A2_ENST00000461735.1_Silent_p.L493L|SLC4A2_ENST00000413384.2_Silent_p.L507L|SLC4A2_ENST00000392826.2_Silent_p.L498L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	507					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGAAACTGCTGGAGAAGAT	0.632000													8	14					0	0	0.335167	0	0
DRD5	1816	broad.mit.edu	37	4	9784028	9784028	+	Silent	SNP	T	T	C	rs2227841	byFrequency	TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:9784028T>C	ENST00000304374.2	+	1	771	c.375T>C	c.(373-375)acT>acC	p.T125T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	125					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGTGCTCCACTGCCTCCATCC	0.622000													3	38					0	0	0.115264	0	0
RAET1L	154064	broad.mit.edu	37	6	150342164	150342164	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:150342164C>G	ENST00000367341.1	-	3	507	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q	RAET1L_ENST00000286380.2_Missense_Mutation_p.E170Q			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	170	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TCCCACTTTTCTTTCATCTTT	0.473000													64	202					0	0	0.870114	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885612	88885612	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:88885612C>T	ENST00000319675.3	-	1	684	c.588G>A	c.(586-588)gcG>gcA	p.A196A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	196										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGAGTGATACGCGTGGATGC	0.557000													51	167					0	0	0.870114	0	0
RELL1	768211	broad.mit.edu	37	4	37633100	37633100	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:37633100C>T	ENST00000454158.2	-	6	814	c.726G>A	c.(724-726)cgG>cgA	p.R242R	RELL1_ENST00000314117.4_Silent_p.R242R	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	242						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						TCAGGCTTCTCCGTTCCTTCT	0.502000													32	42					0	0	0.750413	0	0
PTPMT1	114971	broad.mit.edu	37	11	47593175	47593175	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:47593175G>C	ENST00000326656.8	+	3	432	c.408G>C	c.(406-408)aaG>aaC	p.K136N	PTPMT1_ENST00000426530.2_3'UTR|PTPMT1_ENST00000534775.1_3'UTR|PTPMT1_ENST00000326674.9_Missense_Mutation_p.K200N|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000527079.2_3'UTR			Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	200	Tyrosine-protein phosphatase.				inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K200N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCATTTCAAAGACATGATGTA	0.453000													31	184					0	0	0.740014	0	0
NDST3	9348	broad.mit.edu	37	4	119059225	119059225	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:119059225C>T	ENST00000296499.5	+	5	1644	c.1241C>T	c.(1240-1242)aCg>aTg	p.T414M	NDST3_ENST00000433996.2_Missense_Mutation_p.T333M	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	414	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GGCATTCCAACGGACATGGGC	0.433000													6	147					0	0	0.278610	0	0
HECW2	57520	broad.mit.edu	37	2	197171229	197171229	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:197171229C>T	ENST00000260983.2	-	13	2979	c.2797G>A	c.(2797-2799)Gtg>Atg	p.V933M	HECW2_ENST00000409111.1_Missense_Mutation_p.V577M	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	933	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAATGCAGCACGGTGAAGAAC	0.493000													4	132					0	0	0.150653	0	0
COX17	10063	broad.mit.edu	37	3	119396195	119396195	+	Translation_Start_Site	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:119396195A>T	ENST00000261070.2	-	0	55				COX17_ENST00000497116.1_De_novo_Start_OutOfFrame	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone						copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		GAGACAGCCAAATCTATGCCA	0.567000													4	16					0	0	0.387290	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408040	107408040	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:107408040C>T	ENST00000340010.5	-	20	2439	c.2255G>A	c.(2254-2256)cGt>cAt	p.R752H	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R639H	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	752					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TACCCGATTACGTAATCCTCC	0.343000													18	29					0	0	0.539581	0	0
PLEC	5339	broad.mit.edu	37	8	144997569	144997569	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997569C>T	ENST00000322810.4	-	31	7108	c.6939G>A	c.(6937-6939)caG>caA	p.Q2313Q	PLEC_ENST00000398774.2_Silent_p.Q2144Q|PLEC_ENST00000527096.1_Silent_p.Q2199Q|PLEC_ENST00000354958.2_Silent_p.Q2154Q|PLEC_ENST00000436759.2_Silent_p.Q2203Q|PLEC_ENST00000354589.3_Silent_p.Q2176Q|PLEC_ENST00000356346.3_Silent_p.Q2162Q|PLEC_ENST00000357649.2_Silent_p.Q2180Q|PLEC_ENST00000345136.3_Silent_p.Q2176Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2313	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCAGCGTCTGCTCGGCGA	0.662000													5	35					0	0	0.184627	0	0
ENOPH1	58478	broad.mit.edu	37	4	83375957	83375957	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:83375957G>C	ENST00000273920.3	+	4	740	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	ENOPH1_ENST00000509635.1_Missense_Mutation_p.E70Q	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	158					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						AGGGAGTGTGGAGGCACAGAA	0.448000													50	173					0	0	0.870114	0	0
TWF2	11344	broad.mit.edu	37	3	52269100	52269100	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:52269100G>C	ENST00000305533.5	-	2	291	c.48C>G	c.(46-48)ttC>ttG	p.F16L	TLR9_ENST00000597542.1_5'UTR|TWF2_ENST00000499914.2_Missense_Mutation_p.F16L	NM_007284.3	NP_009215.1			twinfilin actin-binding protein 2											breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTTGGCAAAGAATTCCTTCA	0.572000													20	57					0	0	0.681144	0	0
PLEC	5339	broad.mit.edu	37	8	144998346	144998346	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998346C>G	ENST00000322810.4	-	31	6331	c.6162G>C	c.(6160-6162)ctG>ctC	p.L2054L	PLEC_ENST00000398774.2_Silent_p.L1885L|PLEC_ENST00000527096.1_Silent_p.L1940L|PLEC_ENST00000354958.2_Silent_p.L1895L|PLEC_ENST00000436759.2_Silent_p.L1944L|PLEC_ENST00000354589.3_Silent_p.L1917L|PLEC_ENST00000356346.3_Silent_p.L1903L|PLEC_ENST00000357649.2_Silent_p.L1921L|PLEC_ENST00000345136.3_Silent_p.L1917L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2054	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCGCTGCCTCAGCGTGTCCT	0.692000													5	23					0	0	0.278610	0	0
POM121L12	285877	broad.mit.edu	37	7	53104019	53104019	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:53104019C>T	ENST00000408890.4	+	1	671	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	219										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCTTCAAGCCCCTGAGCAA	0.632000													12	171					0	0	0.411799	0	0
PLEC	5339	broad.mit.edu	37	8	144997355	144997355	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997355C>T	ENST00000322810.4	-	31	7322	c.7153G>A	c.(7153-7155)Gag>Aag	p.E2385K	PLEC_ENST00000398774.2_Missense_Mutation_p.E2216K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2271K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2226K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2275K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2248K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2234K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2252K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2248K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2385	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E2385Q(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCTCAGCCTCGATGCGTGCC	0.647000													10	48					0	0	0.361761	0	0
EPB41L3	23136	broad.mit.edu	37	18	5478351	5478351	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:5478351T>A	ENST00000341928.2	-	3	610	c.270A>T	c.(268-270)aaA>aaT	p.K90N	RP11-286N3.1_ENST00000577527.1_RNA|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K90N|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K90N|EPB41L3_ENST00000400111.3_Missense_Mutation_p.K90N|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K90N	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	90					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCTAGATGATTTCTGAGAAA	0.413000													53	111					0	0	0.870114	0	0
DYRK2	8445	broad.mit.edu	37	12	68052255	68052255	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:68052255G>A	ENST00000344096.3	+	3	1981	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	DYRK2_ENST00000393555.3_Missense_Mutation_p.R450H	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	523	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R523H(2)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CCTGCAGTGCGCATGACCCCA	0.577000													4	154					0	0	0.184627	0	0
EXTL1	2134	broad.mit.edu	37	1	26349620	26349620	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:26349620C>T	ENST00000374280.3	+	1	1350	c.483C>T	c.(481-483)gtC>gtT	p.V161V		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	161					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		ACCATCTGGTCCTCCGTCTCC	0.667000													30	69					0	0	0.750413	0	0
PENK	5179	broad.mit.edu	37	8	57354258	57354258	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:57354258G>T	ENST00000314922.3	-	2	453	c.377C>A	c.(376-378)gCc>gAc	p.A126D	PENK_ENST00000451791.2_Missense_Mutation_p.A126D|PENK_ENST00000523274.1_5'UTR	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	126					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			ACTTCCATTGGCCTCTTCTTC	0.502000													53	205					4.17328e-34	4.65187e-34	0.870114	1	0
VPS11	55823	broad.mit.edu	37	11	118949887	118949887	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:118949887G>A	ENST00000300793.6	+	15	2354	c.2312G>A	c.(2311-2313)aGg>aAg	p.R771K	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	772					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		TCCGTCATCAGGGACTACCTG	0.572000													8	34					0	0	0.387290	0	0
CACYBP	27101	broad.mit.edu	37	1	174977745	174977745	+	Splice_Site	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:174977745G>A	ENST00000367681.2	+	5	944	c.303_splice	c.e5-1	p.V102_splice	CACYBP_ENST00000367679.2_Splice_Site_p.V145_splice|CACYBP_ENST00000405362.1_Splice_Site_p.V102_splice	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	145	CS.|Interaction with SKP1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TTTCTTCCAGGTCAAGACTGA	0.353000													21	82					0	0	0.624587	0	0
IGHG2	3501	broad.mit.edu	37	14	106110177	106110177	+	RNA	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr14:106110177G>C	ENST00000390545.2	-	0	440																											CGGGGTCTTCGTGGCTCACGT	0.602000													97	233					0	0	0.870114	0	0
SLC4A10	57282	broad.mit.edu	37	2	162820676	162820676	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:162820676C>T	ENST00000375514.5	+	22	3124	c.2837C>T	c.(2836-2838)cCg>cTg	p.P946L	SLC4A10_ENST00000272716.5_Missense_Mutation_p.P935L|SLC4A10_ENST00000446997.1_Missense_Mutation_p.P965L|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P965L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.P935L	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	965					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCTGGATGCCGGCAAAACAT	0.368000													8	26					0	0	0.361761	0	0
ACSS3	79611	broad.mit.edu	37	12	81471976	81471976	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:81471976C>T	ENST00000548058.1	+	1	987	c.77C>T	c.(76-78)cCg>cTg	p.P26L	ACSS3_ENST00000261206.3_Missense_Mutation_p.P26L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	26						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GGGTCCTCTCCGGCCCGGGGA	0.741000													7	9					0	0	0.248553	0	0
DTNBP1	84062	broad.mit.edu	37	6	15523422	15523422	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:15523422C>G	ENST00000344537.5	-	10	1012	c.840G>C	c.(838-840)gaG>gaC	p.E280D	DTNBP1_ENST00000462989.2_Missense_Mutation_p.E124D|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E281D	NM_032122.4	NP_115498.2	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	280	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GGAGGGTAATCTCATTCTGAC	0.498000									Hermansky-Pudlak syndrome				54	167					0	0	0.870114	0	0
ZNF570	148268	broad.mit.edu	37	19	37974837	37974837	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:37974837G>C	ENST00000330173.1	+	5	842	c.313G>C	c.(313-315)Gaa>Caa	p.E105Q	ZNF570_ENST00000586475.1_Missense_Mutation_p.E161Q|ZNF570_ENST00000388801.3_5'UTR	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTTATGAAGAACATCAATC	0.363000													36	157					0	0	0.827153	0	0
PSMD3	5709	broad.mit.edu	37	17	38142913	38142913	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:38142913A>G	ENST00000264639.4	+	3	671	c.497A>G	c.(496-498)tAt>tGt	p.Y166C	PSMD3_ENST00000541736.1_Missense_Mutation_p.Y28C	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	166					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GTGGAAGCCTATCTCCAACTC	0.537000													139	219					0	0	0.870114	0	0
MLLT3	4300	broad.mit.edu	37	9	20346501	20346501	+	Silent	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:20346501C>A	ENST00000380338.4	-	11	1933	c.1647G>T	c.(1645-1647)tcG>tcT	p.S549S	MLLT3_ENST00000429426.2_Silent_p.S546S|MLLT3_ENST00000380321.1_Silent_p.S143S|MLLT3_ENST00000355930.6_Silent_p.S119S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTTTGTCCAGCGAGCAAAGAT	0.388000			T	MLL	ALL								3	84					0.004672	0.00483105	0.115264	1	0
PLEC	5339	broad.mit.edu	37	8	144994286	144994286	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144994286C>G	ENST00000322810.4	-	32	10283	c.10114G>C	c.(10114-10116)Gaa>Caa	p.E3372Q	PLEC_ENST00000398774.2_Missense_Mutation_p.E3203Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E3258Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E3213Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E3262Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E3235Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E3221Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E3239Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E3235Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3372	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGTCTTTTCAAAGGTCTCA	0.642000													24	102					0	0	0.639603	0	0
BTG2	7832	broad.mit.edu	37	1	203276399	203276399	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:203276399G>A	ENST00000290551.4	+	2	381	c.310G>A	c.(310-312)Gtg>Atg	p.V104M		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	104					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			GACCCTGTGGGTGGACCCCTA	0.652000													48	82					0	0	0.870114	0	0
PLEC	5339	broad.mit.edu	37	8	144997461	144997461	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997461C>T	ENST00000322810.4	-	31	7216	c.7047G>A	c.(7045-7047)ctG>ctA	p.L2349L	PLEC_ENST00000398774.2_Silent_p.L2180L|PLEC_ENST00000527096.1_Silent_p.L2235L|PLEC_ENST00000354958.2_Silent_p.L2190L|PLEC_ENST00000436759.2_Silent_p.L2239L|PLEC_ENST00000354589.3_Silent_p.L2212L|PLEC_ENST00000356346.3_Silent_p.L2198L|PLEC_ENST00000357649.2_Silent_p.L2216L|PLEC_ENST00000345136.3_Silent_p.L2212L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2349	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCCGCCTTCAGCCGCTGCA	0.667000													8	17					0	0	0.411799	0	0
ZNF790	388536	broad.mit.edu	37	19	37309350	37309350	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:37309350G>T	ENST00000356725.4	-	5	2016	c.1896C>A	c.(1894-1896)ttC>ttA	p.F632L	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AGAGTGAAATGAAGTGAGAGC	0.308000													4	95					0.00024832	0.000258978	0.150653	1	0
KBTBD8	84541	broad.mit.edu	37	3	67054415	67054415	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:67054415G>C	ENST00000295568.4	+	3	1077	c.946G>C	c.(946-948)Ggg>Cgg	p.G316R	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.G342R	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	342										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CATTGCAGGAGGGTACAGGCC	0.428000													65	65					0	0	0.870114	0	0
EBF3	253738	broad.mit.edu	37	10	131640456	131640456	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:131640456C>T	ENST00000368648.3	-	13	1341	c.1269G>A	c.(1267-1269)acG>acA	p.T423T	EBF3_ENST00000355311.5_Silent_p.T432T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	432					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.T432T(1)|p.T423T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCATCATGCCCGTGTGTGCAG	0.602000													98	167					0	0	0.870114	0	0
TAOK1	57551	broad.mit.edu	37	17	27837971	27837971	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:27837971G>A	ENST00000261716.3	+	15	2184	c.1665G>A	c.(1663-1665)caG>caA	p.Q555Q	TAOK1_ENST00000536202.1_Silent_p.Q555Q	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	555					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TCGAGTCCCAGAAAAGAGAGT	0.338000													13	159					0	0	0.435327	0	0
ESYT2	57488	broad.mit.edu	37	7	158529772	158529772	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:158529772G>C	ENST00000251527.5	-	19	2512	c.2447C>G	c.(2446-2448)tCa>tGa	p.S816*	ESYT2_ENST00000435514.2_Nonsense_Mutation_p.S251*	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	844	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGTTTTCTTTGACACGTGTGT	0.448000													31	137					0	0	0.760397	0	0
FBXW7	55294	broad.mit.edu	37	4	153250883	153250883	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:153250883G>A	ENST00000281708.4	-	8	2406	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R393*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R313*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R275*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R393*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R217*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	393					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R393*(7)|p.R313*(1)|p.R154*(1)|p.?(1)|p.R275*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTAACTATTCGGTTACCACAA	0.343000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								90	45					0	0	0.870114	0	0
PIFO	128344	broad.mit.edu	37	1	111891150	111891150	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:111891150C>A	ENST00000369738.4	+	4	636	c.271C>A	c.(271-273)Cat>Aat	p.H91N	PIFO_ENST00000484512.1_3'UTR|PIFO_ENST00000369737.4_Missense_Mutation_p.H58N	NM_181643.4	NP_857594.2			primary cilia formation																		AATGACACCTCATGCAGGCAG	0.363000													82	293					2.47556e-37	2.78501e-37	0.870114	1	0
PLEC	5339	broad.mit.edu	37	8	144995838	144995838	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144995838C>T	ENST00000322810.4	-	32	8731	c.8562G>A	c.(8560-8562)caG>caA	p.Q2854Q	PLEC_ENST00000398774.2_Silent_p.Q2685Q|PLEC_ENST00000527096.1_Silent_p.Q2740Q|PLEC_ENST00000354958.2_Silent_p.Q2695Q|PLEC_ENST00000436759.2_Silent_p.Q2744Q|PLEC_ENST00000354589.3_Silent_p.Q2717Q|PLEC_ENST00000356346.3_Silent_p.Q2703Q|PLEC_ENST00000357649.2_Silent_p.Q2721Q|PLEC_ENST00000345136.3_Silent_p.Q2717Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2854	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCAGCTGCCTCTGCAGGGCGG	0.672000													21	42					0	0	0.624587	0	0
ERBB2	2064	broad.mit.edu	37	17	37883578	37883578	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37883578G>C	ENST00000406381.2	+	28	3610	c.3100G>C	c.(3100-3102)Gag>Cag	p.E1034Q	ERBB2_ENST00000269571.5_Missense_Mutation_p.E1064Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.E788Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.E1034Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.E1034Q|ERBB2_ENST00000541774.1_Missense_Mutation_p.E1049Q|ERBB2_ENST00000584450.1_Intron	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1064					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACTAGGGCTGGAGCCCTCTGA	0.612000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			4	105					0	0	0.217242	0	0
BIRC6	57448	broad.mit.edu	37	2	32701366	32701366	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:32701366A>G	ENST00000421745.2	+	34	6940	c.6806A>G	c.(6805-6807)tAt>tGt	p.Y2269C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2269					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGATCATCATATAAACTCCTG	0.318000													3	6					0	0	0.150653	0	0
CDH24	64403	broad.mit.edu	37	14	23524350	23524350	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr14:23524350G>C	ENST00000397359.3	-	3	673	c.414C>G	c.(412-414)atC>atG	p.I138M	CDH24_ENST00000554034.1_Missense_Mutation_p.I138M|CDH24_ENST00000267383.5_Missense_Mutation_p.I138M|CDH24_ENST00000487137.2_Missense_Mutation_p.I138M	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	138	Cadherin 1.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CTTGCACTTTGATGATGAACT	0.587000											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	182					0	0	0.812448	0	0
APOB	338	broad.mit.edu	37	2	21231200	21231200	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:21231200C>A	ENST00000233242.1	-	26	8667	c.8540G>T	c.(8539-8541)gGa>gTa	p.G2847V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2847					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATAGCATTTCCAAAAAACAG	0.413000													61	271					5.86059e-21	6.47329e-21	0.870114	1	0
ATP6V0A1	535	broad.mit.edu	37	17	40665994	40665994	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:40665994C>T	ENST00000343619.4	+	20	2369	c.2246C>T	c.(2245-2247)gCg>gTg	p.A749V	ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A750V|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A743V|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A700V|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A706V|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A749V|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A395V	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	749					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		CTCGCTCATGCGCGTGAGTAC	0.582000													4	235					0	0	0.150653	0	0
MTA2	9219	broad.mit.edu	37	11	62361854	62361854	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:62361854G>C	ENST00000278823.2	-	17	2107	c.1718C>G	c.(1717-1719)tCt>tGt	p.S573C	MTA2_ENST00000527204.1_Missense_Mutation_p.S400C|MTA2_ENST00000524902.1_Missense_Mutation_p.S400C	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	573					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						TCCATTGGCAGAGAAAGGAAC	0.557000													21	71					0	0	0.575678	0	0
USP49	25862	broad.mit.edu	37	6	41773477	41773477	+	Silent	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:41773477G>C	ENST00000394253.3	-	3	1574	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L	USP49_ENST00000373009.3_Silent_p.L415L|USP49_ENST00000297229.2_Silent_p.L415L|USP49_ENST00000373006.1_Silent_p.L415L|USP49_ENST00000373010.1_Silent_p.L415L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	415					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCAGACTCGAGTTCCTGCT	0.572000													24	92					0	0	0.654019	0	0
FOLR4	390243	broad.mit.edu	37	11	94038883	94038883	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:94038883C>T	ENST00000440961.2	+	1	125	c.81C>T	c.(79-81)tgC>tgT	p.C27C		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	27						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TCAACATCTGCATGAATGCCA	0.587000													63	65					0	0	0.870114	0	0
CNTLN	54875	broad.mit.edu	37	9	17409412	17409412	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:17409412C>A	ENST00000380647.3	+	16	2821	c.2737C>A	c.(2737-2739)Caa>Aaa	p.Q913K	CNTLN_ENST00000262360.5_Missense_Mutation_p.Q913K|CNTLN_ENST00000425824.1_Missense_Mutation_p.Q913K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	913						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGAAGACAGCCAAACACAAGG	0.343000													39	146					2.05212e-20	2.2564e-20	0.812448	1	0
KRT6C	286887	broad.mit.edu	37	12	52864386	52864386	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:52864386C>G	ENST00000252250.6	-	6	1153	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	369	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTCCCCATGTCTGCCTGCTGT	0.547000													28	114					0	0	0.769981	0	0
ODF2	4957	broad.mit.edu	37	9	131260797	131260797	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131260797G>A	ENST00000303890.5	+	21	2631	c.2046G>A	c.(2044-2046)cgG>cgA	p.R682R	ODF2_ENST00000351030.3_Silent_p.R701R|ODF2_ENST00000444119.2_Silent_p.R682R|ODF2_ENST00000372796.4_Silent_p.R706R|ODF2_ENST00000372807.5_Silent_p.R701R|ODF2_ENST00000434106.2_Silent_p.R706R	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	706					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGAAAACACGGGAATGTGGGA	0.567000													4	16					0	0	0.184627	0	0
LRP2	4036	broad.mit.edu	37	2	170103911	170103911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:170103911G>T	ENST00000263816.3	-	20	3170	c.2885C>A	c.(2884-2886)tCg>tAg	p.S962*	LRP2_ENST00000443831.1_Nonsense_Mutation_p.S825*	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	962					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.S962*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GACATCATACGATTTCAAATG	0.398000													26	65					5.61819e-17	6.14964e-17	0.693898	1	0
MS4A1	931	broad.mit.edu	37	11	60234505	60234505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:60234505G>A	ENST00000534668.1	+	6	936	c.647G>A	c.(646-648)tGg>tAg	p.W216*	MS4A1_ENST00000528313.1_Nonsense_Mutation_p.W49*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.W216*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.W216*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.W203*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	216					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GAGAATGAATGGAAAAGAACG	0.433000													4	151					0	0	0.150653	0	0
RARA	5914	broad.mit.edu	37	17	38487504	38487504	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:38487504G>T	ENST00000254066.5	+	2	489	c.34G>T	c.(34-36)Ggg>Tgg	p.G12W	RARA_ENST00000394089.2_Missense_Mutation_p.G12W|RARA_ENST00000425707.3_Missense_Mutation_p.G12W	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	12	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CCCGACACCTGGGGGCGGGCA	0.662000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								23	122					3.28513e-13	3.56378e-13	0.667858	1	0
SORCS1	114815	broad.mit.edu	37	10	108337272	108337272	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:108337272G>A	ENST00000263054.6	-	26	3420	c.3413C>T	c.(3412-3414)cCt>cTt	p.P1138L	SORCS1_ENST00000344440.6_Intron|SORCS1_ENST00000369698.1_3'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1138						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TGAGTCACCAGGTTGAGTAGA	0.493000													5	179					0	0	0.184627	0	0
ZNF384	171017	broad.mit.edu	37	12	6787551	6787551	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:6787551G>A	ENST00000396795.1	-	5	925	c.428C>T	c.(427-429)tCg>tTg	p.S143L	ZNF384_ENST00000355772.4_Intron|ZNF384_ENST00000396799.2_Missense_Mutation_p.S143L|ZNF384_ENST00000396801.3_Missense_Mutation_p.S143L|ZNF384_ENST00000319770.3_Missense_Mutation_p.S127L|ZNF384_ENST00000361959.3_Missense_Mutation_p.S143L			Q8TF68	ZN384_HUMAN	zinc finger protein 384	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CATGGGAGCCGAAATGGGGAA	0.552000			T	"""EWSR1, TAF15 """	ALL								3	50					0	0	0.115264	0	0
DPYSL4	10570	broad.mit.edu	37	10	134004265	134004265	+	Silent	SNP	G	G	A	rs137897999		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:134004265G>A	ENST00000338492.4	+	2	218	c.54G>A	c.(52-54)ctG>ctA	p.L18L	DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_5'UTR	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	18					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ACCGCCTTCTGATCAGAGGTG	0.438000													18	84					0	0	0.557998	0	0
PLEC	5339	broad.mit.edu	37	8	144999083	144999083	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144999083C>T	ENST00000322810.4	-	31	5594	c.5425G>A	c.(5425-5427)Gag>Aag	p.E1809K	PLEC_ENST00000398774.2_Missense_Mutation_p.E1640K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1695K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1650K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1699K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1672K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1658K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1676K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1672K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1809	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCGCGCCTCGCGCTCCGCC	0.726000													9	14					0	0	0.387290	0	0
FOXD3	27022	broad.mit.edu	37	1	63789386	63789386	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:63789386G>A	ENST00000371116.2	+	1	657	c.657G>A	c.(655-657)ccG>ccA	p.P219P	RP4-792G4.2_ENST00000427268.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	219					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCTGGACCCGCAGTCCGAGG	0.642000													5	186					0	0	0.184627	0	0
CPED1	79974	broad.mit.edu	37	7	120655860	120655860	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:120655860G>C	ENST00000310396.5	+	3	858	c.391G>C	c.(391-393)Gaa>Caa	p.E131Q	CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000340646.5_Missense_Mutation_p.E131Q|CPED1_ENST00000450913.2_Missense_Mutation_p.E131Q	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CATCGCTGAAGAAAGGCTCAA	0.463000													11	24					0	0	0.435327	0	0
SCN10A	6336	broad.mit.edu	37	3	38833599	38833599	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:38833599A>G	ENST00000449082.2	-	2	330	c.331T>C	c.(331-333)Tgg>Cgg	p.W111R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	111					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGAATAGCCACAGGGCCCGA	0.458000													118	101					0	0	0.870114	0	0
CES1	1066	broad.mit.edu	37	16	55846957	55846957	+	Splice_Site	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:55846957T>A	ENST00000422046.2	-	9	1224		c.e9-2		CES1_ENST00000361503.4_Splice_Site|CES1_ENST00000360526.3_Splice_Site			P23141	EST1_HUMAN	carboxylesterase 1						response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGGTTGACTCTGGGGAGAGAG	0.542000													67	101					0	0	0.870114	0	0
SVIL	6840	broad.mit.edu	37	10	29762869	29762869	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:29762869C>G	ENST00000375398.2	-	32	5876	c.5427G>C	c.(5425-5427)gaG>gaC	p.E1809D	SVIL_ENST00000375400.3_Missense_Mutation_p.E1383D|SVIL_ENST00000355867.4_Missense_Mutation_p.E1809D|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000460007.1_5'UTR|SVIL_ENST00000535393.1_Missense_Mutation_p.E723D|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000446807.1_RNA			O95425	SVIL_HUMAN	supervillin	1809					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGACGCACTTCTCTTTGCCGG	0.627000													15	50					0	0	0.479597	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127192	226127192	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:226127192C>T	ENST00000366820.5	-	3	954	c.606G>A	c.(604-606)tcG>tcA	p.S202S	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Silent_p.S168S	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	202					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCCTCTGCACCGACACCTGTA	0.721000													6	21					0	0	0.411799	0	0
LRP2	4036	broad.mit.edu	37	2	169993958	169993958	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:169993958C>G	ENST00000263816.3	-	76	13849	c.13564G>C	c.(13564-13566)Gaa>Caa	p.E4522Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4522					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTGGGTTTTCAAATATTATG	0.453000													37	106					0	0	0.834066	0	0
PLEC	5339	broad.mit.edu	37	8	144993992	144993992	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993992C>T	ENST00000322810.4	-	32	10577	c.10408G>A	c.(10408-10410)Gac>Aac	p.D3470N	PLEC_ENST00000398774.2_Missense_Mutation_p.D3301N|PLEC_ENST00000527096.1_Missense_Mutation_p.D3356N|PLEC_ENST00000354958.2_Missense_Mutation_p.D3311N|PLEC_ENST00000436759.2_Missense_Mutation_p.D3360N|PLEC_ENST00000354589.3_Missense_Mutation_p.D3333N|PLEC_ENST00000356346.3_Missense_Mutation_p.D3319N|PLEC_ENST00000357649.2_Missense_Mutation_p.D3337N|PLEC_ENST00000345136.3_Missense_Mutation_p.D3333N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3470	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCTTGCCGTCCTTGAGCTGC	0.667000													31	103					0	0	0.717897	0	0
PLEC	5339	broad.mit.edu	37	8	144997545	144997545	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997545C>T	ENST00000322810.4	-	31	7132	c.6963G>A	c.(6961-6963)gtG>gtA	p.V2321V	PLEC_ENST00000398774.2_Silent_p.V2152V|PLEC_ENST00000527096.1_Silent_p.V2207V|PLEC_ENST00000354958.2_Silent_p.V2162V|PLEC_ENST00000436759.2_Silent_p.V2211V|PLEC_ENST00000354589.3_Silent_p.V2184V|PLEC_ENST00000356346.3_Silent_p.V2170V|PLEC_ENST00000357649.2_Silent_p.V2188V|PLEC_ENST00000345136.3_Silent_p.V2184V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2321	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCCTGCTCCACCTGCGCCT	0.657000													5	27					0	0	0.217242	0	0
ADCY9	115	broad.mit.edu	37	16	4164183	4164183	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:4164183C>T	ENST00000294016.3	-	2	1799	c.1261G>A	c.(1261-1263)Gat>Aat	p.D421N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	421	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCGAACAGATCGTTCAGGAGA	0.552000													28	135					0	0	0.681144	0	0
SMPD1	6609	broad.mit.edu	37	11	6414465	6414465	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:6414465C>G	ENST00000342245.4	+	3	1279	c.1111C>G	c.(1111-1113)Ctt>Gtt	p.L371V	SMPD1_ENST00000527275.1_Missense_Mutation_p.L370V|SMPD1_ENST00000299397.3_Intron|SMPD1_ENST00000356761.2_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	369			P -> S (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GTTCTATGCTCTTTCCCCATA	0.493000													10	58					0	0	0.361761	0	0
PLEC	5339	broad.mit.edu	37	8	144999089	144999089	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144999089C>G	ENST00000322810.4	-	31	5588	c.5419G>C	c.(5419-5421)Gag>Cag	p.E1807Q	PLEC_ENST00000398774.2_Missense_Mutation_p.E1638Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1693Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1648Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E1697Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1670Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1656Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1674Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1670Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1807	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTCGCGCTCCGCCTCCTCC	0.721000													7	13					0	0	0.335167	0	0
ERBB2	2064	broad.mit.edu	37	17	37882022	37882022	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37882022G>A	ENST00000406381.2	+	25	3208	c.2698G>A	c.(2698-2700)Gag>Aag	p.E900K	ERBB2_ENST00000269571.5_Missense_Mutation_p.E930K|ERBB2_ENST00000445658.2_Missense_Mutation_p.E654K|ERBB2_ENST00000540147.1_Missense_Mutation_p.E900K|ERBB2_ENST00000584601.1_Missense_Mutation_p.E900K|ERBB2_ENST00000541774.1_Missense_Mutation_p.E915K|ERBB2_ENST00000584450.1_Missense_Mutation_p.E930K	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	930	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCCAGCCCGGGAGATCCCTGA	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			6	110					0	0	0.248553	0	0
PRRC2C	23215	broad.mit.edu	37	1	171492442	171492442	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:171492442G>A	ENST00000367742.3	+	8	1158	c.916G>A	c.(916-918)Gag>Aag	p.E306K	PRRC2C_ENST00000426496.2_Missense_Mutation_p.E304K|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000392078.3_Missense_Mutation_p.E306K|PRRC2C_ENST00000338920.4_Missense_Mutation_p.E304K			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	304							protein C-terminus binding										AGAACTGAAGGAGCTTGATAA	0.448000													23	29					0	0	0.654019	0	0
SAMM50	25813	broad.mit.edu	37	22	44392241	44392241	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr22:44392241G>A	ENST00000350028.4	+	15	1545	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	SAMM50_ENST00000396202.3_Missense_Mutation_p.G253E	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	463					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GTCCAGTTTGGAGCTGGGATA	0.597000													127	413					0	0	0.870114	0	0
CDH19	28513	broad.mit.edu	37	18	64178822	64178822	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:64178822G>C	ENST00000262150.2	-	10	1851	c.1559C>G	c.(1558-1560)aCa>aGa	p.T520R	CDH19_ENST00000540086.1_Intron	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	520	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATCTATGATTGTAAAACTTGA	0.308000													35	37					0	0	0.796494	0	0
UHRF1	29128	broad.mit.edu	37	19	4932907	4932907	+	RNA	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:4932907G>C	ENST00000592666.1	+	0	1300							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GTACGACGCGGAGATCTCCAG	0.652000													18	49					0	0	0.539581	0	0
SOGA1	140710	broad.mit.edu	37	20	35443638	35443638	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:35443638C>T	ENST00000237536.4	-	5	2548	c.2207G>A	c.(2206-2208)gGg>gAg	p.G736E	SOGA1_ENST00000456801.2_Missense_Mutation_p.G339E|SOGA1_ENST00000357779.3_Missense_Mutation_p.G498E|SOGA1_ENST00000279034.5_Missense_Mutation_p.G498E	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	498										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GACAGAGCACCCGAGGACTGC	0.602000													89	155					0	0	0.870114	0	0
OR8I2	120586	broad.mit.edu	37	11	55861087	55861087	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:55861087T>C	ENST00000302124.2	+	1	335	c.304T>C	c.(304-306)Tac>Cac	p.Y102H	OR8I2_ENST00000560768.1_Missense_Mutation_p.Y102H			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGTTCAAATGTACTTTTTTGT	0.398000													122	146					0	0	0.870114	0	0
PIP	5304	broad.mit.edu	37	7	142832288	142832288	+	Splice_Site	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:142832288C>T	ENST00000291009.3	+	2	137	c.95_splice	c.e2-1	p.R33_splice		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	33						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CACAATCAGTCGGAAGATCAT	0.463000													7	23					0	0	0.248553	0	0
ATP1A4	480	broad.mit.edu	37	1	160134194	160134194	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:160134194G>T	ENST00000368081.4	+	7	1498	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	343					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTGCCTGAGGGGCTGTTGGC	0.512000													68	263					2.10328e-26	2.33378e-26	0.870114	1	0
RIMS3	9783	broad.mit.edu	37	1	41107474	41107474	+	Missense_Mutation	SNP	C	C	T	rs149583022		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:41107474C>T	ENST00000372684.3	-	3	593	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	RIMS3_ENST00000372683.1_Missense_Mutation_p.A42T	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	42					neurotransmitter transport	cell junction|synapse		p.A42T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGCTTCTTGGCGGTGGTGGTC	0.657000													17	62					0	0	0.575678	0	0
SORCS3	22986	broad.mit.edu	37	10	107022174	107022174	+	Missense_Mutation	SNP	G	G	A	rs140421862		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:107022174G>A	ENST00000369701.3	+	26	3756	c.3529G>A	c.(3529-3531)Gcc>Acc	p.A1177T		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1177						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAGTGAAAACGCCCCCAAAAT	0.507000													51	64					0	0	0.870114	0	0
PRKCI	5584	broad.mit.edu	37	3	170002329	170002329	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:170002329A>T	ENST00000295797.4	+	12	1453	c.1148A>T	c.(1147-1149)aAt>aTt	p.N383I		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	383	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAACTGGACAATGTATTACTG	0.328000													43	122					0	0	0.853193	0	0
KLHL24	54800	broad.mit.edu	37	3	183368215	183368215	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:183368215G>A	ENST00000454652.1	+	4	457	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	KLHL24_ENST00000242810.6_Missense_Mutation_p.R24Q|KLHL24_ENST00000476808.1_Missense_Mutation_p.R24Q			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	24						axon|cytoplasm|perikaryon		p.R24Q(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			GCAACTAAGCGAAAAGTTTTT	0.398000													52	116					0	0	0.870114	0	0
DNAH5	1767	broad.mit.edu	37	5	13841896	13841896	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:13841896G>C	ENST00000265104.4	-	33	5493	c.5389C>G	c.(5389-5391)Cag>Gag	p.Q1797E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1797	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AATGAGGACTGAGATTCTTCC	0.438000									Kartagener syndrome				30	143					0	0	0.717897	0	0
RGS22	26166	broad.mit.edu	37	8	101020653	101020653	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:101020653G>A	ENST00000360863.6	-	15	2505	c.2311C>T	c.(2311-2313)Ctt>Ttt	p.L771F	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.L759F|RGS22_ENST00000523287.1_Missense_Mutation_p.L590F	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	771	Poly-Leu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CATGGCTCAAGAAGGAGGAGA	0.378000													35	168					0	0	0.796494	0	0
LTN1	26046	broad.mit.edu	37	21	30315991	30315991	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr21:30315991G>C	ENST00000361371.4	-	23	4368	c.4218C>G	c.(4216-4218)taC>taG	p.Y1406*	LTN1_ENST00000389194.2_Nonsense_Mutation_p.Y1452*	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1406							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ATTCTTACTTGTATAGCATAT	0.294000													35	46					0	0	0.779181	0	0
C16orf78	123970	broad.mit.edu	37	16	49430524	49430524	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:49430524G>T	ENST00000299191.3	+	4	702	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	195										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GCCTCATGGAGAAAAGCACCG	0.547000													21	32					7.45023e-12	8.01064e-12	0.592651	1	0
PLEC	5339	broad.mit.edu	37	8	144998138	144998138	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998138C>T	ENST00000322810.4	-	31	6539	c.6370G>A	c.(6370-6372)Gag>Aag	p.E2124K	PLEC_ENST00000398774.2_Missense_Mutation_p.E1955K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2010K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1965K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2014K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1987K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1973K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1991K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1987K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2124	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGCGCTCCTCAGCCTCACGG	0.726000													3	11					0	0	0.115264	0	0
BHLHE22	27319	broad.mit.edu	37	8	65494156	65494156	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:65494156C>T	ENST00000321870.1	+	1	1343	c.809C>T	c.(808-810)cCc>cTc	p.P270L	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	270	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GCGGTGATCCCCTACGCGCAC	0.637000													5	14					0	0	0.184627	0	0
PCDHB5	26167	broad.mit.edu	37	5	140517292	140517292	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:140517292G>T	ENST00000231134.5	+	1	2493	c.2276G>T	c.(2275-2277)gGg>gTg	p.G759V		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		759					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGACTCAGGGGCCGGCGAG	0.582000													9	242					9.70103e-10	1.03848e-09	0.361761	1	0
ZNF676	163223	broad.mit.edu	37	19	22363101	22363101	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:22363101G>C	ENST00000397121.2	-	3	1735	c.1418C>G	c.(1417-1419)gCa>gGa	p.A473G		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGGTTTCTCTGCAGCATGAAT	0.388000													22	159					0	0	0.779181	0	0
AACS	65985	broad.mit.edu	37	12	125621304	125621304	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:125621304G>A	ENST00000316519.6	+	17	1981	c.1775G>A	c.(1774-1776)gGg>gAg	p.G592E	AACS_ENST00000543665.1_Intron|AACS_ENST00000261686.6_Intron|AACS_ENST00000545511.1_Intron|AACS_ENST00000316543.10_Missense_Mutation_p.G190E	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	592					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		ATGGCCTCCGGGCACGCCTTC	0.592000													72	82					0	0	0.870114	0	0
ZNF676	163223	broad.mit.edu	37	19	22363091	22363091	+	Silent	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:22363091A>G	ENST00000397121.2	-	3	1745	c.1428T>C	c.(1426-1428)ccT>ccC	p.P476P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAAGGTTTCTCTG	0.388000													38	151					0	0	0.870114	0	0
PLEC	5339	broad.mit.edu	37	8	144995096	144995096	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144995096C>T	ENST00000322810.4	-	32	9473	c.9304G>A	c.(9304-9306)Gag>Aag	p.E3102K	PLEC_ENST00000398774.2_Missense_Mutation_p.E2933K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2988K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2943K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2992K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2965K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2951K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2969K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2965K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3102	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCTCCTGCTCCTCCACCACC	0.637000													18	49					0	0	0.520397	0	0
CCPG1	9236	broad.mit.edu	37	15	55652461	55652461	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:55652461C>A	ENST00000310958.6	-	8	1808	c.1510G>T	c.(1510-1512)Gta>Tta	p.V504L	CCPG1_ENST00000569205.1_Missense_Mutation_p.V504L|CCPG1_ENST00000442196.3_Missense_Mutation_p.V504L|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	504					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TGATGCCTTACAAACTCCTTG	0.363000													184	205					4.04931e-71	4.59805e-71	0.870114	1	0
HLF	3131	broad.mit.edu	37	17	53345376	53345376	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:53345376G>A	ENST00000226067.5	+	2	853	c.380G>A	c.(379-381)aGc>aAc	p.S127N	HLF_ENST00000575345.1_Missense_Mutation_p.S42N|HLF_ENST00000573945.1_Missense_Mutation_p.S42N|HLF_ENST00000430986.2_Missense_Mutation_p.S42N	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	127					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						ATGGACCTCAGCAGCCGGGCC	0.617000			T	TCF3	ALL								49	205					0	0	0.870114	0	0
CD28	940	broad.mit.edu	37	2	204594487	204594487	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:204594487A>T	ENST00000374481.3	+	4	496	c.274A>T	c.(274-276)Att>Ttt	p.I92F	CD28_ENST00000374478.4_Missense_Mutation_p.I57F|CD28_ENST00000458610.2_Missense_Mutation_p.I190F|CD28_ENST00000324106.7_Missense_Mutation_p.I176F			P10747	CD28_HUMAN	CD28 molecule	176	Ig-like V-type.				cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GGCCTTTATTATTTTCTGGGT	0.433000													126	176					0	0	0.870114	0	0
UNC5C	8633	broad.mit.edu	37	4	96091409	96091409	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:96091409G>A	ENST00000453304.1	-	15	2874	c.2526C>T	c.(2524-2526)ttC>ttT	p.F842F		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	842					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GAGGGATGCTGAAAGCACTGG	0.592000													94	380					0	0	0.870114	0	0
KIAA1429	25962	broad.mit.edu	37	8	95547138	95547138	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:95547138G>A	ENST00000297591.5	-	5	488	c.413C>T	c.(412-414)tCt>tTt	p.S138F	KIAA1429_ENST00000421249.2_Missense_Mutation_p.S138F|KIAA1429_ENST00000437199.1_Missense_Mutation_p.S138F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	138					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tggtggtggAGAGTCTCTGTC	0.458000													22	70					0	0	0.592651	0	0
ZNF804B	219578	broad.mit.edu	37	7	88962919	88962919	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:88962919C>T	ENST00000333190.4	+	4	1232	c.623C>T	c.(622-624)tCa>tTa	p.S208L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	208						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAACATCTTCAGATCTCAGC	0.388000										HNSCC(36;0.09)			26	83					0	0	0.681144	0	0
PYGM	5837	broad.mit.edu	37	11	64519902	64519902	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:64519902G>A	ENST00000164139.3	-	13	1991	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	PYGM_ENST00000377432.3_Silent_p.F443F	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	531					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CATCCCGAATGAAAGCTTCAT	0.577000													14	83					0	0	0.479597	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860086	96860086	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:96860086G>A	ENST00000375360.3	+	7	1416	c.1076G>A	c.(1075-1077)cGa>cAa	p.R359Q	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R411Q	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	359							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTTGACAATCGAGGCATGATT	0.502000													21	110					0	0	0.575678	0	0
FTSJ3	117246	broad.mit.edu	37	17	61901558	61901558	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:61901558G>C	ENST00000427159.2	-	12	1685	c.1040C>G	c.(1039-1041)tCa>tGa	p.S347*		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	347					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCCAGCTGTTGAGTCCTCCTC	0.537000													17	374					0	0	0.539581	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225622	26225622	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:26225622G>C	ENST00000360408.1	+	1	240	c.240G>C	c.(238-240)aaG>aaC	p.K80N		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	80					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				AGGACTTCAAGACCGACCTGC	0.597000													29	84					0	0	0.717897	0	0
RYR2	6262	broad.mit.edu	37	1	237829847	237829847	+	Silent	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:237829847G>T	ENST00000366574.2	+	57	8789	c.8472G>T	c.(8470-8472)cgG>cgT	p.R2824R	RYR2_ENST00000542537.1_Silent_p.R2808R|RYR2_ENST00000360064.6_Silent_p.R2822R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2824	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGTCCCCGGGCCATTGACA	0.363000													11	23					3.03607e-14	3.30837e-14	0.411799	1	0
NOA1	84273	broad.mit.edu	37	4	57843128	57843128	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:57843128C>G	ENST00000264230.4	-	1	1861	c.624G>C	c.(622-624)gcG>gcC	p.A208A		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	208							GTP binding										GCCGCCGCAACGCGGCGCTCA	0.731000													14	26					0	0	0.639603	0	0
COG5	10466	broad.mit.edu	37	7	106877029	106877029	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:106877029C>G	ENST00000393603.2	-	18	2321	c.2050G>C	c.(2050-2052)Gaa>Caa	p.E684Q	COG5_ENST00000347053.3_Missense_Mutation_p.E663Q|COG5_ENST00000297135.3_Missense_Mutation_p.E684Q	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	663					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCCAAGCATTCAAAGTGTTTA	0.413000													26	75					0	0	0.654019	0	0
IWS1	55677	broad.mit.edu	37	2	128253582	128253582	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:128253582C>T	ENST00000295321.4	-	7	1967	c.1708G>A	c.(1708-1710)Gct>Act	p.A570T	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	570					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACCTCAGCAGCTTCATTCATC	0.468000													122	173					0	0	0.870114	0	0
IL18RAP	8807	broad.mit.edu	37	2	103061677	103061677	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:103061677A>G	ENST00000264260.2	+	9	1538	c.949A>G	c.(949-951)Att>Gtt	p.I317V	IL18RAP_ENST00000409369.1_Missense_Mutation_p.I175V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	317	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGATGAAATCATTGAGCGTAA	0.398000													30	40					0	0	0.750413	0	0
IQCH	64799	broad.mit.edu	37	15	67681204	67681204	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:67681204C>T	ENST00000335894.4	+	12	1558	c.1492C>T	c.(1492-1494)Cat>Tat	p.H498Y	IQCH_ENST00000546225.1_Missense_Mutation_p.H246Y|IQCH_ENST00000358767.3_Missense_Mutation_p.H325Y|IQCH_ENST00000360277.4_Missense_Mutation_p.H250Y	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	498										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CTGCTCCCATCATATGAATGA	0.408000													6	166					0	0	0.217242	0	0
ANK1	286	broad.mit.edu	37	8	41519012	41519012	+	Missense_Mutation	SNP	C	C	T	rs139762174	byFrequency	TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:41519012C>T	ENST00000396942.1	-	42	5773	c.5690G>A	c.(5689-5691)cGg>cAg	p.R1897Q	ANK1_ENST00000522231.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000347528.4_Intron|ANK1_ENST00000265709.8_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000352337.4_Missense_Mutation_p.R1850Q|ANK1_ENST00000314214.8_Missense_Mutation_p.R147Q|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.R1872Q|ANK1_ENST00000522543.1_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000396945.1_Intron			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0					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	p.R147L(1)		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)			CAGGCTGGCCCGCTTCACTAT	0.622000													19	134					0	0	0.592651	0	0
CHN1	1123	broad.mit.edu	37	2	175742727	175742727	+	Silent	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:175742727T>A	ENST00000409900.3	-	6	703	c.390A>T	c.(388-390)gcA>gcT	p.A130A	CHN1_ENST00000409156.3_Silent_p.A130A|CHN1_ENST00000488080.1_Intron	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	130	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TGTATTCTGCTGCCTTGGTTT	0.433000			T	TAF15	extraskeletal myxoid chondrosarcoma								30	229					0	0	0.717897	0	0
PLEC	5339	broad.mit.edu	37	8	144993503	144993503	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993503C>T	ENST00000322810.4	-	32	11066	c.10897G>A	c.(10897-10899)Gag>Aag	p.E3633K	PLEC_ENST00000398774.2_Missense_Mutation_p.E3464K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3519K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3474K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3523K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3496K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3482K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3500K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3496K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3633	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCATCTCCTCACTGAAGTAG	0.662000													31	138					0	0	0.760397	0	0
PLEC	5339	broad.mit.edu	37	8	144997511	144997511	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997511C>T	ENST00000322810.4	-	31	7166	c.6997G>A	c.(6997-6999)Gag>Aag	p.E2333K	PLEC_ENST00000398774.2_Missense_Mutation_p.E2164K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2219K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2174K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2223K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2196K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2182K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2200K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2196K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2333	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGGTCTCCTCCAGCTGCAGC	0.652000													7	22					0	0	0.248553	0	0
MAP4K3	8491	broad.mit.edu	37	2	39517434	39517434	+	Translation_Start_Site	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:39517434T>A	ENST00000536018.1	-	0	666				MAP4K3_ENST00000263881.3_Splice_Site_p.K438_splice|MAP4K3_ENST00000341681.5_Splice_Site_p.K417_splice|MAP4K3_ENST00000437545.1_Splice_Site_p.K354_splice			Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3						JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TCTGTCTACCTTTGGTGGCAA	0.303000													11	56					0	0	0.387290	0	0
TPX2	22974	broad.mit.edu	37	20	30363779	30363779	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:30363779C>G	ENST00000340513.4	+	8	1246	c.718C>G	c.(718-720)Ctg>Gtg	p.L240V	TPX2_ENST00000300403.6_Missense_Mutation_p.L240V			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	240					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GAAACTTGCTCTGGCTGGAAT	0.393000													11	121					0	0	0.520397	0	0
DNAJC8	22826	broad.mit.edu	37	1	28536520	28536520	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:28536520T>A	ENST00000263697.4	-	5	388	c.362A>T	c.(361-363)gAt>gTt	p.D121V	DNAJC8_ENST00000489277.1_5'UTR	NM_014280.2	NP_055095.2	O75937	DNJC8_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 8	121	J.				nuclear mRNA splicing, via spliceosome|protein folding	nucleoplasm	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;4.08e-05)|all_lung(284;4.29e-05)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.0105)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		OV - Ovarian serous cystadenocarcinoma(117;2.81e-22)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00275)|BRCA - Breast invasive adenocarcinoma(304;0.0059)|STAD - Stomach adenocarcinoma(196;0.00671)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAATTACATCCAGGGCCCT	0.428000													22	106					0	0	0.667858	0	0
KCNC2	3747	broad.mit.edu	37	12	75444702	75444702	+	Silent	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:75444702G>T	ENST00000549446.1	-	3	1763	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	KCNC2_ENST00000540018.1_Silent_p.L361L|KCNC2_ENST00000548513.1_Silent_p.L361L|KCNC2_ENST00000298972.1_Silent_p.L361L|KCNC2_ENST00000393288.2_Silent_p.L361L|KCNC2_ENST00000550433.1_Silent_p.L361L|KCNC2_ENST00000548243.1_5'UTR|KCNC2_ENST00000341669.3_Silent_p.L361L|KCNC2_ENST00000350228.2_Silent_p.L361L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	361					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AATGGCGGGTGAGCTTGAAAA	0.463000													5	60					0.184627	0.186935	0.184627	1	0
C1orf173	127254	broad.mit.edu	37	1	75037806	75037806	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:75037806C>T	ENST00000326665.5	-	14	3806	c.3588G>A	c.(3586-3588)ctG>ctA	p.L1196L	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1196	Glu-rich.							p.L1196L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCCTGCTGGACAGCTCTTCTC	0.552000													129	198					0	0	0.870114	0	0
ALPK1	80216	broad.mit.edu	37	4	113352225	113352225	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:113352225G>C	ENST00000458497.1	+	11	1801	c.1522G>C	c.(1522-1524)Gaa>Caa	p.E508Q	ALPK1_ENST00000504176.2_Missense_Mutation_p.E430Q|ALPK1_ENST00000177648.9_Missense_Mutation_p.E508Q	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	508							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TACTACTCAAGAAAAGCCACA	0.398000													26	67					0	0	0.706142	0	0
PCDH18	54510	broad.mit.edu	37	4	138453011	138453011	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:138453011C>A	ENST00000344876.4	-	1	618	c.232G>T	c.(232-234)Gta>Tta	p.V78L	PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.V78L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	78	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V78L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCGTTTACTACAAGTAGAGGA	0.423000													5	273					0.248553	0.250615	0.248553	1	0
PLEC	5339	broad.mit.edu	37	8	144998210	144998210	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998210C>G	ENST00000322810.4	-	31	6467	c.6298G>C	c.(6298-6300)Gag>Cag	p.E2100Q	PLEC_ENST00000398774.2_Missense_Mutation_p.E1931Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1986Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1941Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E1990Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1963Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1949Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1967Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1963Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2100	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGGCCTGCTCCTTGCTGCGC	0.726000													5	17					0	0	0.217242	0	0
MTA2	9219	broad.mit.edu	37	11	62362037	62362037	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:62362037G>A	ENST00000278823.2	-	16	2032	c.1643C>T	c.(1642-1644)tCc>tTc	p.S548F	MTA2_ENST00000527204.1_Missense_Mutation_p.S375F|MTA2_ENST00000524902.1_Missense_Mutation_p.S375F	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	548					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CCGGTTCTGGGACAGCTGGTT	0.527000													30	124					0	0	0.706142	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790797	75790797	+	Translation_Start_Site	SNP	C	C	T	rs147946451		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:75790797C>T	ENST00000478296.1	-	0	274				ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000477374.1_Missense_Mutation_p.V50M|ZNF717_ENST00000400845.3_Missense_Mutation_p.V43M|ZNF717_ENST00000422325.1_Missense_Mutation_p.V50M			C9JSV9	C9JSV9_HUMAN	zinc finger protein 717						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						TCCAGCATCACGTCCCTGTAC	0.502000													2	1					0	0	0.115264	0	0
ODF2	4957	broad.mit.edu	37	9	131260723	131260723	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131260723G>C	ENST00000303890.5	+	21	2557	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	ODF2_ENST00000351030.3_Missense_Mutation_p.E677Q|ODF2_ENST00000444119.2_Missense_Mutation_p.E658Q|ODF2_ENST00000372796.4_Missense_Mutation_p.E682Q|ODF2_ENST00000372807.5_Missense_Mutation_p.E677Q|ODF2_ENST00000434106.2_Missense_Mutation_p.E682Q	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	682					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCAGAATATCGAGTTCCTACA	0.577000													5	17					0	0	0.278610	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361310	70361310	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:70361310G>C	ENST00000305107.6	-	1	316	c.270C>G	c.(268-270)atC>atG	p.I90M	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.I90M|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	90					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCAGCTGCTTGATAATATCCT	0.348000													15	53					0	0	0.479597	0	0
WDR96	80217	broad.mit.edu	37	10	105974155	105974155	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:105974155T>G	ENST00000357060.3	-	4	561	c.446A>C	c.(445-447)aAg>aCg	p.K149T	WDR96_ENST00000369719.1_Missense_Mutation_p.K79T|WDR96_ENST00000428666.1_Missense_Mutation_p.K149T|WDR96_ENST00000369720.1_Missense_Mutation_p.K79T|WDR96_ENST00000278064.2_Missense_Mutation_p.K79T	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	149										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGATTTCTTACACAAAAT	0.373000													42	56					0	0	0.859065	0	0
PHLDB2	90102	broad.mit.edu	37	3	111688638	111688638	+	Silent	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:111688638A>G	ENST00000431670.2	+	16	3828	c.3417A>G	c.(3415-3417)gtA>gtG	p.V1139V	PHLDB2_ENST00000495180.1_Silent_p.V630V|PHLDB2_ENST00000481953.1_Silent_p.V1096V|PHLDB2_ENST00000412622.1_Silent_p.V1096V|PHLDB2_ENST00000393923.3_Silent_p.V1123V|PHLDB2_ENST00000393925.3_Silent_p.V1139V	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1139						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GTTACCATGTATCAATCACAG	0.458000													61	138					0	0	0.870114	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069409	57069409	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:57069409C>T	ENST00000532437.1	-	8	5154	c.4843G>A	c.(4843-4845)Gca>Aca	p.A1615T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A1615T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1615	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ACCCGAGATGCCCGTGGCTCT	0.587000													4	106					0	0	0.184627	0	0
PLEC	5339	broad.mit.edu	37	8	144997754	144997754	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144997754C>T	ENST00000322810.4	-	31	6923	c.6754G>A	c.(6754-6756)Gag>Aag	p.E2252K	PLEC_ENST00000398774.2_Missense_Mutation_p.E2083K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2138K|PLEC_ENST00000354958.2_Missense_Mutation_p.E2093K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2142K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2115K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2101K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2119K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2115K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2252	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCAGCCGCTCGGCCTCTTCC	0.761000													6	14					0	0	0.248553	0	0
TOX2	84969	broad.mit.edu	37	20	42694519	42694519	+	Silent	SNP	G	G	A	rs143301359	byFrequency	TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:42694519G>A	ENST00000358131.5	+	6	1282	c.1074G>A	c.(1072-1074)acG>acA	p.T358T	TOX2_ENST00000341197.3_Silent_p.T376T|TOX2_ENST00000435864.2_Silent_p.T254T|TOX2_ENST00000423191.1_Silent_p.T334T|TOX2_ENST00000372999.1_Silent_p.T334T	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCGCCCGGACGCTGGGCTCCA	0.711000													25	78					0	0	0.859065	0	0
KIF7	374654	broad.mit.edu	37	15	90176982	90176982	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:90176982G>A	ENST00000394412.3	-	12	2603	c.2527C>T	c.(2527-2529)Cgc>Tgc	p.R843C		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	843					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTCTCCTCGCGAAGCCGCCTC	0.657000													5	20					0	0	0.184627	0	0
ERBB2	2064	broad.mit.edu	37	17	37881982	37881982	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:37881982G>A	ENST00000406381.2	+	25	3168	c.2658G>A	c.(2656-2658)atG>atA	p.M886I	ERBB2_ENST00000269571.5_Missense_Mutation_p.M916I|ERBB2_ENST00000445658.2_Missense_Mutation_p.M640I|ERBB2_ENST00000540147.1_Missense_Mutation_p.M886I|ERBB2_ENST00000584601.1_Missense_Mutation_p.M886I|ERBB2_ENST00000541774.1_Missense_Mutation_p.M901I|ERBB2_ENST00000584450.1_Missense_Mutation_p.M916I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	916	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GGGAGCTGATGACTTTTGGGG	0.602000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			7	110					0	0	0.248553	0	0
OR11H6	122748	broad.mit.edu	37	14	20692282	20692282	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr14:20692282T>A	ENST00000315519.2	+	1	492	c.414T>A	c.(412-414)taT>taA	p.Y138*		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTATGGCTTATGATCGGTACC	0.428000													136	188					0	0	0.870114	0	0
KIF6	221458	broad.mit.edu	37	6	39563898	39563898	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:39563898T>G	ENST00000287152.7	-	7	872	c.778A>C	c.(778-780)Act>Cct	p.T260P	KIF6_ENST00000538893.1_Missense_Mutation_p.T260P|KIF6_ENST00000373215.3_Missense_Mutation_p.T260P|KIF6_ENST00000373216.3_Missense_Mutation_p.T260P|KIF6_ENST00000373213.4_Missense_Mutation_p.T99P	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	260	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCTACTCCAGTCTTTGCAACT	0.448000													4	105					0	0	0.184627	0	0
NLRP9	338321	broad.mit.edu	37	19	56241286	56241286	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:56241286T>G	ENST00000332836.2	-	3	1932	c.1905A>C	c.(1903-1905)ttA>ttC	p.L635F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	635						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TTTCCATGTCTAAAATCTGGA	0.423000													50	83					0	0	0.870114	0	0
LRRC30	339291	broad.mit.edu	37	18	7231916	7231916	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr18:7231916C>T	ENST00000383467.2	+	1	794	c.780C>T	c.(778-780)atC>atT	p.I260I		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	260										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGTGAGGATCGCCTGGAATC	0.587000													184	224					0	0	0.870114	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348470	89348470	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:89348470G>A	ENST00000301030.4	-	9	4940	c.4480C>T	c.(4480-4482)Cgg>Tgg	p.R1494W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1494W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1494	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGTGATGCCGCAGGAGCTCG	0.647000													21	68					0	0	0.592651	0	0
PLEC	5339	broad.mit.edu	37	8	144994712	144994712	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144994712C>T	ENST00000322810.4	-	32	9857	c.9688G>A	c.(9688-9690)Gag>Aag	p.E3230K	PLEC_ENST00000398774.2_Missense_Mutation_p.E3061K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3116K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3071K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3120K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3093K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3079K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3097K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3093K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3230	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCAGCTTCTCATGAAACTCG	0.662000													15	57					0	0	0.500413	0	0
EHD3	30845	broad.mit.edu	37	2	31483527	31483527	+	Silent	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:31483527G>C	ENST00000322054.5	+	4	939	c.654G>C	c.(652-654)ctG>ctC	p.L218L	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	218					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAGTGGTGCTGAACAAAGCTG	0.547000													18	59					0	0	0.557998	0	0
MED13L	23389	broad.mit.edu	37	12	116420250	116420250	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:116420250C>T	ENST00000281928.3	-	22	5320	c.5114G>A	c.(5113-5115)cGc>cAc	p.R1705H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1705					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGTGTAGCAGCGCATCAAGCT	0.438000													55	82					0	0	0.870114	0	0
ZNF358	140467	broad.mit.edu	37	19	7584188	7584188	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:7584188A>T	ENST00000597229.1	+	2	230	c.60A>T	c.(58-60)gaA>gaT	p.E20D	ZNF358_ENST00000394341.2_Missense_Mutation_p.E20D|CTD-2207O23.12_ENST00000599312.1_3'UTR	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	20					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCGTTTATGAAGAGCTCGACT	0.582000													81	100					0	0	0.870114	0	0
ZNF317	57693	broad.mit.edu	37	19	9271903	9271903	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:9271903A>T	ENST00000247956.6	+	7	1887	c.1582A>T	c.(1582-1584)Aaa>Taa	p.K528*	ZNF317_ENST00000360385.3_Nonsense_Mutation_p.K496*	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACGGGGGAGAAACCGTACGA	0.557000													14	62					0	0	0.479597	0	0
RELL2	285613	broad.mit.edu	37	5	141019628	141019628	+	Silent	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:141019628G>C	ENST00000297164.3	+	5	1845	c.645G>C	c.(643-645)ggG>ggC	p.G215G	RELL2_ENST00000521367.1_Silent_p.G149G|RELL2_ENST00000518025.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000444782.1_Silent_p.G215G|RELL2_ENST00000518856.1_Silent_p.G149G	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	215						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAGGCAGGGATGCCTGCCA	0.677000													12	30					0	0	0.520397	0	0
CASP10	843	broad.mit.edu	37	2	202050586	202050586	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:202050586C>G	ENST00000286186.6	+	2	521	c.86C>G	c.(85-87)tCa>tGa	p.S29*	CASP10_ENST00000313728.7_Nonsense_Mutation_p.S29*|CASP10_ENST00000374650.3_Nonsense_Mutation_p.S29*|CASP10_ENST00000272879.5_Nonsense_Mutation_p.S29*|CASP10_ENST00000346817.5_Nonsense_Mutation_p.S29*|CASP10_ENST00000360132.3_Nonsense_Mutation_p.S29*|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000448480.1_Nonsense_Mutation_p.S29*	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	29	DED 1.				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ATTATTGATTCAAACCTGGGG	0.443000													27	113					0	0	0.681144	0	0
KLHL1	57626	broad.mit.edu	37	13	70413285	70413285	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr13:70413285C>T	ENST00000377844.4	-	6	1996	c.1237G>A	c.(1237-1239)Gac>Aac	p.D413N	KLHL1_ENST00000545028.1_Missense_Mutation_p.D220N	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	413					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TTTTCTAGGTCAGCCAATATC	0.299000													64	77					0	0	0.870114	0	0
PRSS48	345062	broad.mit.edu	37	4	152203446	152203446	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:152203446C>T	ENST00000455694.2	+	3	364	c.362C>T	c.(361-363)tCc>tTc	p.S121F	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	121	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TTGAAACTGTCCTCTCAAGTC	0.498000													46	215					0	0	0.870114	0	0
P2RY1	5028	broad.mit.edu	37	3	152554155	152554155	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:152554155G>A	ENST00000305097.3	+	1	1420	c.584G>A	c.(583-585)cGc>cAc	p.R195H		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	195					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R195H(2)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACCGGGGTCCGCAAAAACAAA	0.522000													4	165					0	0	0.150653	0	0
HID1	283987	broad.mit.edu	37	17	72955992	72955992	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:72955992C>T	ENST00000425042.2	-	8	1069	c.992G>A	c.(991-993)cGc>cAc	p.R331H		NM_030630.2	NP_085133.1			HID1 domain containing																		ACGATGGATGCGGGACAGGTA	0.627000													5	316					0	0	0.184627	0	0
PLEC	5339	broad.mit.edu	37	8	144998319	144998319	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998319C>G	ENST00000322810.4	-	31	6358	c.6189G>C	c.(6187-6189)gaG>gaC	p.E2063D	PLEC_ENST00000398774.2_Missense_Mutation_p.E1894D|PLEC_ENST00000527096.1_Missense_Mutation_p.E1949D|PLEC_ENST00000354958.2_Missense_Mutation_p.E1904D|PLEC_ENST00000436759.2_Missense_Mutation_p.E1953D|PLEC_ENST00000354589.3_Missense_Mutation_p.E1926D|PLEC_ENST00000356346.3_Missense_Mutation_p.E1912D|PLEC_ENST00000357649.2_Missense_Mutation_p.E1930D|PLEC_ENST00000345136.3_Missense_Mutation_p.E1926D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2063	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCCAGGATCTCCTCCTCCA	0.701000													4	34					0	0	0.150653	0	0
MX1	4599	broad.mit.edu	37	21	42821216	42821216	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr21:42821216G>A	ENST00000398600.2	+	16	2451	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	MX1_ENST00000455164.2_Missense_Mutation_p.V476M|MX1_ENST00000398598.3_Missense_Mutation_p.V476M|MX1_ENST00000288383.6_Missense_Mutation_p.V453M	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	476					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCTACACACCGTGACGGGTGA	0.483000													47	52					0	0	0.870114	0	0
NMRAL1	57407	broad.mit.edu	37	16	4519402	4519402	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:4519402C>T	ENST00000574733.1	-	3	834	c.105G>A	c.(103-105)gtG>gtA	p.V35V	NMRAL1_ENST00000572391.1_Intron|NMRAL1_ENST00000404295.3_Silent_p.V35V|NMRAL1_ENST00000283429.6_Silent_p.V35V|NMRAL1_ENST00000574425.1_Silent_p.V35V			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	35						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						GGTTTCGGGTCACCACTCGAA	0.562000													150	328					0	0	0.870114	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338585	13338585	+	RNA	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:13338585G>A	ENST00000602906.1	+	0	448																				kidney(3)|lung(1)	4						GTCTTCTGCTGGAGGTTCCTT	0.468000													29	50					0	0	0.750413	0	0
UHRF1	29128	broad.mit.edu	37	19	4932906	4932906	+	RNA	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:4932906G>A	ENST00000592666.1	+	0	1299							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GGTACGACGCGGAGATCTCCA	0.657000													18	50					0	0	0.539581	0	0
VPS13B	157680	broad.mit.edu	37	8	100115242	100115242	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:100115242C>G	ENST00000395996.1	+	5	585	c.474C>G	c.(472-474)ctC>ctG	p.L158L	VPS13B_ENST00000355155.1_Silent_p.L158L|VPS13B_ENST00000441350.2_Silent_p.L158L|VPS13B_ENST00000358544.2_Silent_p.L158L|VPS13B_ENST00000357162.2_Silent_p.L158L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	158					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAAATAATCTCATACTAAAAT	0.308000													30	135					0	0	0.750413	0	0
CXXC5	51523	broad.mit.edu	37	5	139060915	139060915	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:139060915C>T	ENST00000302517.3	+	2	1521	c.807C>T	c.(805-807)tgC>tgT	p.C269C	CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.C269C	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	269					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCCCTGCCGGCGGCGCA	0.572000													4	115					0	0	0.184627	0	0
WDR27	253769	broad.mit.edu	37	6	170060767	170060767	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:170060767T>C	ENST00000333572.6	-	10	1640	c.1121A>G	c.(1120-1122)tAt>tGt	p.Y374C	WDR27_ENST00000448612.1_Missense_Mutation_p.Y374C|WDR27_ENST00000423258.1_Missense_Mutation_p.Y247C|WDR27_ENST00000546525.1_5'UTR			A2RRH5	WDR27_HUMAN	WD repeat domain 27	344										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ACCCTTGTAATACAAAGCAGC	0.443000													16	49					0	0	0.500413	0	0
PLEC	5339	broad.mit.edu	37	8	144993305	144993305	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144993305C>T	ENST00000322810.4	-	32	11264	c.11095G>A	c.(11095-11097)Gag>Aag	p.E3699K	PLEC_ENST00000398774.2_Missense_Mutation_p.E3530K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3585K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3540K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3589K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3562K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3548K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3566K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3562K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3699	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTTCTTGTCTCCTCCTCAGTG	0.637000													50	235					0	0	0.870114	0	0
XKR4	114786	broad.mit.edu	37	8	56015393	56015393	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:56015393C>T	ENST00000327381.5	+	1	445	c.345C>T	c.(343-345)atC>atT	p.I115I		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	115						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GCCTCTGGATCCTGGCCGCCG	0.746000													42	48					0	0	0.864702	0	0
FOCAD	54914	broad.mit.edu	37	9	20986380	20986380	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:20986380G>A	ENST00000380249.1	+	42	5186	c.4822G>A	c.(4822-4824)Gtg>Atg	p.V1608M	FOCAD_ENST00000338382.6_Missense_Mutation_p.V1608M|FOCAD_ENST00000605086.1_Missense_Mutation_p.V1044M	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1608						integral to membrane	binding										GAGCGTTGCTGTGCAGCACCG	0.512000													35	38					0	0	0.788014	0	0
HOXA2	3199	broad.mit.edu	37	7	27140524	27140524	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr7:27140524C>T	ENST00000222718.5	-	2	1262	c.952G>A	c.(952-954)Gag>Aag	p.E318K		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	318						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						GAGGGGACCTCAAGGGCCTCA	0.522000													81	129					0	0	0.870114	0	0
SRBD1	55133	broad.mit.edu	37	2	45789838	45789838	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr2:45789838A>T	ENST00000263736.4	-	10	1425	c.1363T>A	c.(1363-1365)Tct>Act	p.S455T	SRBD1_ENST00000535761.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	455					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ACTCCATCAGAAATATTGACC	0.338000													31	130					0	0	0.760397	0	0
NBEAL2	23218	broad.mit.edu	37	3	47037919	47037919	+	Silent	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:47037919C>T	ENST00000450053.3	+	16	2489	c.2310C>T	c.(2308-2310)tcC>tcT	p.S770S	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.S770S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	770							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCTGGGGGTCCGGGCTGGTGG	0.716000													6	11					0	0	0.278610	0	0
PLEC	5339	broad.mit.edu	37	8	144998264	144998264	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998264C>G	ENST00000322810.4	-	31	6413	c.6244G>C	c.(6244-6246)Gag>Cag	p.E2082Q	PLEC_ENST00000398774.2_Missense_Mutation_p.E1913Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E1968Q|PLEC_ENST00000354958.2_Missense_Mutation_p.E1923Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E1972Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E1945Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E1931Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E1949Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E1945Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2082	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGCTCCAGCTCCAGCTCCGCC	0.711000													3	27					0	0	0.184627	0	0
KRT78	196374	broad.mit.edu	37	12	53240016	53240016	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:53240016C>T	ENST00000359499.4	-	4	402	c.391G>A	c.(391-393)Gag>Aag	p.E131K	KRT78_ENST00000304620.4_Missense_Mutation_p.E241K			Q8N1N4	K2C78_HUMAN	keratin 78	241	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TAGAGGTACTCTCTCAGAGCC	0.552000													19	66					0	0	0.608945	0	0
KIAA0556	23247	broad.mit.edu	37	16	27772758	27772758	+	Missense_Mutation	SNP	C	C	G	rs71389807		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:27772758C>G	ENST00000261588.4	+	19	3675	c.3656C>G	c.(3655-3657)tCc>tGc	p.S1219C		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1219										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TTCACTGCCTCCTGGGGAGAC	0.587000													24	140					0	0	0.706142	0	0
LOC647323	647323	broad.mit.edu	37	3	193711898	193711898	+	RNA	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:193711898C>T	ENST00000397645.2	-	0	75				RP11-699L21.2_ENST00000426616.1_lincRNA	NR_033944.1																						CCATTTGTTCCATATTTGGGT	0.373000													27	50					0	0	0.681144	0	0
SYF2	25949	broad.mit.edu	37	1	25549911	25549911	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:25549911C>T	ENST00000236273.4	-	7	603	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	SYF2_ENST00000354361.3_Missense_Mutation_p.R151Q	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	193						catalytic step 2 spliceosome		p.R193L(1)		kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		ATATTTGTCTCGTTTTTCAAT	0.323000													64	178					0	0	0.870114	0	0
TJP1	7082	broad.mit.edu	37	15	30019044	30019044	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr15:30019044G>A	ENST00000346128.6	-	17	2726	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	TJP1_ENST00000400011.2_Missense_Mutation_p.A755V|TJP1_ENST00000545208.2_Missense_Mutation_p.A751V|TJP1_ENST00000356107.6_Missense_Mutation_p.A751V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	751	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TAACTTCCTGGCACTTTTCCG	0.363000													4	202					0	0	0.184627	0	0
AIP	9049	broad.mit.edu	37	11	67257514	67257514	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:67257514G>C	ENST00000279146.3	+	4	592	c.474G>C	c.(472-474)gaG>gaC	p.E158D	AIP_ENST00000525341.1_3'UTR	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	158					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						TGCAGGTGGAGAGCCCTGGCA	0.647000									Familial Isolated Pituitary Adenoma				8	4					0	0	0.278610	0	0
PLEC	5339	broad.mit.edu	37	8	144998529	144998529	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144998529G>A	ENST00000322810.4	-	31	6148	c.5979C>T	c.(5977-5979)ctC>ctT	p.L1993L	PLEC_ENST00000398774.2_Silent_p.L1824L|PLEC_ENST00000527096.1_Silent_p.L1879L|PLEC_ENST00000354958.2_Silent_p.L1834L|PLEC_ENST00000436759.2_Silent_p.L1883L|PLEC_ENST00000354589.3_Silent_p.L1856L|PLEC_ENST00000356346.3_Silent_p.L1842L|PLEC_ENST00000357649.2_Silent_p.L1860L|PLEC_ENST00000345136.3_Silent_p.L1856L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1993	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTCTCCTTGAGCGCGATCT	0.741000													10	19					0	0	0.435327	0	0
ITGA8	8516	broad.mit.edu	37	10	15559213	15559213	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr10:15559213G>A	ENST00000378076.3	-	30	3489	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	1046					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATGTCCTCCTGAGGAGGTCTG	0.453000													11	66					0	0	0.411799	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902698	61902698	+	Silent	SNP	G	G	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:61902698G>A	ENST00000427159.2	-	7	1144	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	167					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ATCCATAGCAGAGGCTGATAG	0.532000													7	113					0	0	0.278610	0	0
CUL9	23113	broad.mit.edu	37	6	43152613	43152613	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:43152613A>G	ENST00000252050.4	+	2	649	c.565A>G	c.(565-567)Atg>Gtg	p.M189V	CUL9_ENST00000372647.2_Missense_Mutation_p.M189V|CUL9_ENST00000354495.3_Missense_Mutation_p.M189V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	189					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGCAGGCAAAATGCTGCAGGC	0.567000													16	28					0	0	0.520397	0	0
GPD1	2819	broad.mit.edu	37	12	50500210	50500210	+	Splice_Site	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:50500210G>C	ENST00000301149.3	+	4	731		c.e4+1		GPD1_ENST00000547190.1_Splice_Site|GPD1_ENST00000548814.1_Splice_Site	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)						glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	ACAACCATTGGTGAGAGCCCC	0.567000													15	49					0	0	0.479597	0	0
GDPD3	79153	broad.mit.edu	37	16	30122798	30122798	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:30122798C>T	ENST00000406256.3	-	7	995	c.618G>A	c.(616-618)tgG>tgA	p.W206*		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	206	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AAAGCAGCACCCAGAATCCTC	0.557000													99	229					0	0	0.870114	0	0
KCNA1	3736	broad.mit.edu	37	12	5021957	5021957	+	Silent	SNP	C	C	G			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:5021957C>G	ENST00000382545.3	+	2	2520	c.1413C>G	c.(1411-1413)gtC>gtG	p.V471V	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	471					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATAGACAGGTCAATATCAGAA	0.413000													40	231					0	0	0.853193	0	0
PRPF31	26121	broad.mit.edu	37	19	54621975	54621975	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr19:54621975T>C	ENST00000321030.4	+	3	549	c.200T>C	c.(199-201)aTt>aCt	p.I67T	PRPF31_ENST00000419967.1_Missense_Mutation_p.I67T|PRPF31_ENST00000391755.1_Missense_Mutation_p.I67T	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	67					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ATGATGAAGATTGAGGAGTAT	0.512000													40	215					0	0	0.819951	0	0
AVPR1A	552	broad.mit.edu	37	12	63541363	63541363	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:63541363G>T	ENST00000299178.2	-	2	1138	c.1033C>A	c.(1033-1035)Ccc>Acc	p.P345T		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	345					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TATATCCAGGGATTACAGCAG	0.388000													70	109					1.34568e-36	1.50691e-36	0.870114	1	0
COL24A1	255631	broad.mit.edu	37	1	86499564	86499564	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:86499564C>A	ENST00000370571.2	-	13	2359	c.1993G>T	c.(1993-1995)Gat>Tat	p.D665Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D665Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	665	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GGACTGCCATCAAGACCAGCA	0.403000													9	35					4.68919e-08	4.99769e-08	0.361761	1	0
DHX36	170506	broad.mit.edu	37	3	154018467	154018467	+	Silent	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr3:154018467T>C	ENST00000496811.1	-	11	1457	c.1377A>G	c.(1375-1377)gtA>gtG	p.V459V	DHX36_ENST00000544526.1_Silent_p.V459V|DHX36_ENST00000329463.5_Silent_p.V459V|DHX36_ENST00000308361.6_Silent_p.V459V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	459						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTATAACATCTACAGTACTTG	0.303000													42	94					0	0	0.834066	0	0
BCL9	607	broad.mit.edu	37	1	147094302	147094302	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:147094302C>T	ENST00000234739.3	+	9	3873	c.3133C>T	c.(3133-3135)Ccc>Tcc	p.P1045S		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1045	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGCTCGTTCTCCCAACTTGCC	0.478000			T	"""IGH@, IGL@"""	B-ALL								71	105					0	0	0.870114	0	0
TM7SF3	51768	broad.mit.edu	37	12	27148270	27148270	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:27148270T>C	ENST00000343028.4	-	5	815	c.590A>G	c.(589-591)tAt>tGt	p.Y197C	TM7SF3_ENST00000542667.1_5'UTR	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	197						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					AAAATACTGATAGACATCATA	0.507000													49	59					0	0	0.870114	0	0
CABS1	85438	broad.mit.edu	37	4	71201658	71201658	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr4:71201658G>C	ENST00000273936.4	+	1	961	c.902G>C	c.(901-903)aGa>aCa	p.R301T		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	301						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGGATGGAGAGAGATACTGCA	0.423000													20	84					0	0	0.624587	0	0
ODF2	4957	broad.mit.edu	37	9	131261346	131261346	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr9:131261346G>C	ENST00000303890.5	+	22	2755	c.2170G>C	c.(2170-2172)Gag>Cag	p.E724Q	ODF2_ENST00000351030.3_Missense_Mutation_p.E743Q|ODF2_ENST00000444119.2_Missense_Mutation_p.E724Q|ODF2_ENST00000372796.4_Missense_Mutation_p.E748Q|ODF2_ENST00000372807.5_Missense_Mutation_p.E743Q|ODF2_ENST00000434106.2_Missense_Mutation_p.E748Q	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	748					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCTGGACCTTGAGACCCAGCT	0.577000													39	134					0	0	0.804634	0	0
PPIEL	728448	broad.mit.edu	37	1	40007445	40007447	+	RNA	DEL	ATA	ATA	-			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr1:40007445_40007447delATA	ENST00000440190.1	-	0	455				RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA																							GAACTGGGGGATAATGCGGTGGA	0.448													12	13	---	---	---	---					
NSD1	64324	broad.mit.edu	37	5	176637167	176637168	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr5:176637167_176637168delTT	ENST00000439151.2	+	5	1812_1813	c.1767_1768delTT	c.(1765-1770)tctafs	p.SL589fs	NSD1_ENST00000354179.4_Frame_Shift_Del_p.SL320fs|NSD1_ENST00000347982.4_Frame_Shift_Del_p.SL320fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.SL486fs	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	589					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)		ATGGTGACTCTTTATTGGGCTT	0.446			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			76	84	---	---	---	---					
RFPL4B	442247	broad.mit.edu	37	6	112671535	112671536	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr6:112671535_112671536insT	ENST00000441065.2	+	3	937_938	c.625_626insT	c.(625-627)tttfs	p.F209fs		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	209	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCGTGTGGGAATTTTCCTGGAT	0.465													30	116	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	144996072	144996073	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr8:144996072_144996073insT	ENST00000322810.4	-	32	8496_8497	c.8327_8328insA	c.(8326-8328)ggcfs	p.G2776fs	PLEC_ENST00000398774.2_Frame_Shift_Ins_p.G2607fs|PLEC_ENST00000354589.3_Frame_Shift_Ins_p.G2639fs|PLEC_ENST00000354958.2_Frame_Shift_Ins_p.G2617fs|PLEC_ENST00000527096.1_Frame_Shift_Ins_p.G2662fs|PLEC_ENST00000345136.3_Frame_Shift_Ins_p.G2639fs|PLEC_ENST00000357649.2_Frame_Shift_Ins_p.G2643fs|PLEC_ENST00000436759.2_Frame_Shift_Ins_p.G2666fs|PLEC_ENST00000356346.3_Frame_Shift_Ins_p.G2625fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2776	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGCTCTGCCTCTGCCGCGGG	0.688													9	35	---	---	---	---					
KRTAP5-5	439915	broad.mit.edu	37	11	1651191	1651199	+	In_Frame_Del	DEL	GGCTGTGGA	GGCTGTGGA	-	rs71025763		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:1651191_1651199delGGCTGTGGA	ENST00000399676.2	+	1	159_167	c.121_129delGGCTGTGGA	c.(121-129)del	p.GCG47del		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	47						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ctgtggctccggctgtggaggctgtgggg	0.713													18	23	---	---	---	---					
KRTAP5-7	440050	broad.mit.edu	37	11	71238513	71238542	+	In_Frame_Del	DEL	GCTGTGGCTCCTGTGGGGGCTCCAAGGGAG	GCTGTGGCTCCTGTGGGGGCTCCAAGGGAG	-			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:71238513_71238542delGCTGTGGCTCCTGTGGGGGCTCCAAGGGAG	ENST00000398536.4	+	1	201_230	c.167_196delGCTGTGGCTCCTGTGGGGGCTCCAAGGGAG	c.(166-198)agc>a	p.SCGSCGGSKGG56del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	56	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TCCTGCTCCAGCTGTGGCTCCTGTGGGGGCTCCAAGGGAGGCTGTGGCTC	0.652													21	515	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)del	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616													7	127	---	---	---	---					
TPCN1	53373	broad.mit.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr12:113704096_113704098delCTG	ENST00000550785.1	+	5	734_736	c.565_567delCTG	c.(565-567)del	p.L194del	TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000335509.6_In_Frame_Del_p.L122del	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.640													10	756	---	---	---	---					
WWOX	51741	broad.mit.edu	37	16	78466606	78466607	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr16:78466606_78466607delAC	ENST00000566780.1	+	8	1379_1380	c.1013_1014delAC	c.(1012-1014)tfs	p.Y338fs	WWOX_ENST00000408984.3_Frame_Shift_Del_p.Y338fs|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	338	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TGGTGGGTGTACACACTGCTGT	0.554													8	611	---	---	---	---					
LRRC37BP1	147172	broad.mit.edu	37	17	28959144	28959145	+	RNA	INS	-	-	A	rs55960724		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr17:28959144_28959145insA	ENST00000417404.1	+	0	5_6				LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA																							CAAAATATTTGAAAAAAAAATT	0.406													7	25	---	---	---	---					
ZCCHC3	85364	broad.mit.edu	37	20	278688	278690	+	In_Frame_Del	DEL	CGG	CGG	-	rs63544660		TCGA-CN-4730-01A-01D-1434-08	TCGA-CN-4730-10A-01D-1434-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	543bbfe3-4a11-49af-b445-303f0912bfc3	293094ab-5bd2-49ba-b9cc-04bb1b9f2709	g.chr20:278688_278690delCGG	ENST00000382352.3	+	1	952_954	c.461_463delCGG	c.(460-465)ccg>c	p.PA154del		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	154							nucleic acid binding|zinc ion binding	p.A159delA(3)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CAGGATGAgccggcggcggcggc	0.768													6	9	---	---	---	---					
