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
CTCF	10664	broad.mit.edu	37	16	67660529	67660529	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:67660529C>T	ENST00000264010.4	+	8	1873	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	CTCF_ENST00000401394.1_Missense_Mutation_p.H149Y	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	477					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGCTGTGTTTCATGAGCGCTA	0.463000													11	48					0	0	0.000673444	0	0
BLVRA	644	broad.mit.edu	37	7	43843400	43843400	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:43843400G>C	ENST00000402924.1	+	8	749	c.586G>C	c.(586-588)Gat>Cat	p.D196H	BLVRA_ENST00000265523.4_Missense_Mutation_p.D196H	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	196					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GCGAAAGGAAGATCAGTATAT	0.478000													28	145					0	0	0.00127121	0	0
SPACA7	122258	broad.mit.edu	37	13	113030784	113030784	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr13:113030784G>A	ENST00000283550.3	+	1	152	c.85G>A	c.(85-87)Gtg>Atg	p.V29M		NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	29						extracellular region				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						GCCGAGAACCGTGATTCCAGG	0.592000													17	10					0	0	0.00074312	0	0
GYS2	2998	broad.mit.edu	37	12	21693480	21693480	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:21693480C>T	ENST00000261195.2	-	14	1927	c.1673G>A	c.(1672-1674)cGt>cAt	p.R558H		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	558					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATCTGGAGAACGGAACCGCCT	0.418000													16	101					0	0	0.000566183	0	0
DTNA	1837	broad.mit.edu	37	18	32457760	32457760	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr18:32457760G>C	ENST00000283365.9	+	18	2080	c.1729G>C	c.(1729-1731)Gag>Cag	p.E577Q	DTNA_ENST00000598142.1_Missense_Mutation_p.E577Q|DTNA_ENST00000269192.7_Missense_Mutation_p.E343Q|DTNA_ENST00000590831.2_Missense_Mutation_p.E60Q|DTNA_ENST00000399121.5_Missense_Mutation_p.E581Q|DTNA_ENST00000595022.1_Missense_Mutation_p.E574Q|DTNA_ENST00000399097.3_Missense_Mutation_p.E282Q|DTNA_ENST00000591182.1_Missense_Mutation_p.E282Q|DTNA_ENST00000598334.1_Missense_Mutation_p.E574Q|DTNA_ENST00000601125.1_Missense_Mutation_p.E256Q|DTNA_ENST00000399113.3_Missense_Mutation_p.E634Q|DTNA_ENST00000269190.7_Missense_Mutation_p.E635Q|DTNA_ENST00000444659.1_Missense_Mutation_p.E634Q|DTNA_ENST00000556414.3_Missense_Mutation_p.E286Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	634					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCTTGTGAAAGAGCTGAATTC	0.423000													6	27					0	0	0.00198382	0	0
DES	1674	broad.mit.edu	37	2	220286275	220286275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:220286275G>T	ENST00000373960.3	+	6	1323	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	413	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGGGAGAGGAGAGCCGGTG	0.622000													14	44					7.93312e-07	2.92947e-06	0.00244969	1	0
DPP4	1803	broad.mit.edu	37	2	162902113	162902113	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:162902113C>G	ENST00000360534.3	-	5	855	c.295G>C	c.(295-297)Gga>Cga	p.G99R		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	99					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATAGAATGTCCAAACTCATCC	0.343000													12	46					0	0	0.00185496	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993068	96993068	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:96993068G>C	ENST00000361124.4	+	1	1134	c.723G>C	c.(721-723)caG>caC	p.Q241H	ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.Q233H|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.Q225H|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.Q225H	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	233						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATGAGACCCAGAAATTTGATA	0.612000													18	48					0	0	0.00152264	0	0
KLHL26	55295	broad.mit.edu	37	19	18778789	18778789	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:18778789G>C	ENST00000300976.4	+	3	672	c.582G>C	c.(580-582)caG>caC	p.Q194H	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	194	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTTCCTGCAGATCGCCGAGG	0.637000													9	50					0	0	0.000274275	0	0
C8A	731	broad.mit.edu	37	1	57378266	57378266	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:57378266T>G	ENST00000361249.3	+	10	1667	c.1571T>G	c.(1570-1572)tTg>tGg	p.L524W		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	524	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CTGGGTAGCTTGGGTGCTGCC	0.592000													11	82					0	0	0.00136819	0	0
MSR1	4481	broad.mit.edu	37	8	16026358	16026358	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr8:16026358G>A	ENST00000350896.3	-	4	436	c.239C>T	c.(238-240)aCg>aTg	p.T80M	MSR1_ENST00000355282.2_Missense_Mutation_p.T80M|MSR1_ENST00000445506.2_Missense_Mutation_p.T98M|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000262101.5_Missense_Mutation_p.T80M|MSR1_ENST00000381998.4_Missense_Mutation_p.T80M	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	80	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		GCAATTCTTCGTTTCCCACTT	0.383000													30	40					0	0	0.00127121	0	0
ETV3L	440695	broad.mit.edu	37	1	157062482	157062482	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:157062482G>C	ENST00000454449.2	-	5	1329	c.1045C>G	c.(1045-1047)Ctg>Gtg	p.L349V		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	349						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				AGGTTCTCCAGATTGGGGGAA	0.562000													5	53					0	0	0.00116845	0	0
CDH13	1012	broad.mit.edu	37	16	83159053	83159053	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:83159053C>T	ENST00000566620.1	+	4	720	c.430C>T	c.(430-432)Ccc>Tcc	p.P144S	CDH13_ENST00000268613.10_Missense_Mutation_p.P191S|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000431540.3_Missense_Mutation_p.P144S|CDH13_ENST00000565636.1_Missense_Mutation_p.P144S|CDH13_ENST00000428848.3_Intron|CDH13_ENST00000446376.2_Missense_Mutation_p.P144S	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	144	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGTGGTATCTCCCATTTTAAT	0.363000													14	28					0	0	0.00316338	0	0
UNC13B	10497	broad.mit.edu	37	9	35380621	35380621	+	Missense_Mutation	SNP	G	G	A	rs138199360		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr9:35380621G>A	ENST00000378495.3	+	17	2335	c.2113G>A	c.(2113-2115)Gtc>Atc	p.V705I	UNC13B_ENST00000378496.4_Missense_Mutation_p.V705I|UNC13B_ENST00000396787.1_Missense_Mutation_p.V717I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	705					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.V705I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CGAGATGGACGTCTGGTACAA	0.493000													22	62					0	0	0.00229938	0	0
C2orf16	84226	broad.mit.edu	37	2	27803074	27803074	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:27803074C>T	ENST00000408964.2	+	1	3686	c.3635C>T	c.(3634-3636)aCt>aTt	p.T1212I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1212										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGAGTCCTACTTCCACAATA	0.468000													20	107					0	0	0.00152264	0	0
MMRN1	22915	broad.mit.edu	37	4	90857719	90857719	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:90857719T>C	ENST00000394980.1	+	7	3207	c.2888T>C	c.(2887-2889)cTa>cCa	p.L963P	MMRN1_ENST00000508372.1_Missense_Mutation_p.L705P|MMRN1_ENST00000264790.2_Missense_Mutation_p.L963P|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	963					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGAAAGGTCTAACAGAATTT	0.378000													18	37					0	0	0.00074312	0	0
CCDC110	256309	broad.mit.edu	37	4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:186382220G>A	ENST00000307588.3	-	5	406	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_ENST00000507501.1_5'UTR|CCDC110_ENST00000393540.3_Intron|CCDC110_ENST00000510617.1_Missense_Mutation_p.R111C	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	111						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338000													20	95					0	0	0.000958276	0	0
MAGEH1	28986	broad.mit.edu	37	X	55479236	55479236	+	Silent	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:55479236A>G	ENST00000342972.1	+	1	699	c.429A>G	c.(427-429)agA>agG	p.R143R		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	143	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						TTGTGCGCAGAGGGTACCTGA	0.532000													18	60					0	0	0.000958276	0	0
XKRX	402415	broad.mit.edu	37	X	100183244	100183244	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:100183244G>A	ENST00000328526.5	-	1	654	c.89C>T	c.(88-90)tCa>tTa	p.S30L	XKRX_ENST00000372956.2_Missense_Mutation_p.S17L|XKRX_ENST00000468904.1_Missense_Mutation_p.S17L	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	17						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CTCCAGAGATGAAACCGGATC	0.468000													67	182					0	0	0.00361006	0	0
NSUN5	55695	broad.mit.edu	37	7	72717906	72717906	+	Silent	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:72717906G>A	ENST00000428206.1	-	8	961	c.948C>T	c.(946-948)ctC>ctT	p.L316L	NSUN5_ENST00000438747.2_Silent_p.L354L|NSUN5_ENST00000252594.6_Silent_p.L354L|NSUN5_ENST00000310326.8_Silent_p.L354L	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	354							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGGAGTAGACGAGCCGCTGCA	0.677000													7	19					0	0	0.00198382	0	0
RBP2	5948	broad.mit.edu	37	3	139173605	139173605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:139173605C>T	ENST00000232217.2	-	3	376	c.320G>A	c.(319-321)tGg>tAg	p.W107*	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	107					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CCACTGCTTCCAGCCGCGGTT	0.532000													31	160					0	0	0.0024448	0	0
CAMKK2	10645	broad.mit.edu	37	12	121691083	121691083	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:121691083G>C	ENST00000324774.5	-	10	1928	c.1100C>G	c.(1099-1101)tCt>tGt	p.S367C	CAMKK2_ENST00000545538.1_Missense_Mutation_p.S154C|CAMKK2_ENST00000446440.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000412367.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000404169.3_Missense_Mutation_p.S367C|CAMKK2_ENST00000392473.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000538733.1_Missense_Mutation_p.S367C|CAMKK2_ENST00000402834.4_Missense_Mutation_p.S367C|CAMKK2_ENST00000392474.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000347034.2_Missense_Mutation_p.S367C|CAMKK2_ENST00000337174.3_Missense_Mutation_p.S367C|CAMKK2_ENST00000535524.1_5'UTR	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	367	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCTTCCCAGAGAAGATCTT	0.562000													4	56					0	0	0.00024832	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456986	25456986	+	RNA	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:25456986G>A	ENST00000424208.1	+	0	2516				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-23_ENST00000364461.1_RNA	NR_003305.1																						GAGAGGTGATGACTTAAAATT	0.532000													37	222					0	0	0.00128727	0	0
EHMT2	10919	broad.mit.edu	37	6	31860266	31860266	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:31860266T>C	ENST00000395728.3	-	6	952	c.953A>G	c.(952-954)gAg>gGg	p.E318G	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.E261G|EHMT2_ENST00000375537.4_Missense_Mutation_p.E261G|EHMT2_ENST00000375528.4_Missense_Mutation_p.E318G			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	261	Poly-Glu.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CGTCTCCCACTCCTCCAGGGA	0.547000													15	61					0	0	0.00244969	0	0
HIF3A	64344	broad.mit.edu	37	19	46808523	46808523	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:46808523C>G	ENST00000339613.2	+	3	326	c.71C>G	c.(70-72)gCa>gGa	p.A24G	HIF3A_ENST00000300862.3_Missense_Mutation_p.A78G|HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000600383.1_Intron|HIF3A_ENST00000244303.6_Intron|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Intron|HIF3A_ENST00000377670.4_Missense_Mutation_p.A80G			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CAGGTGGGAGCAGGGGGAGAA	0.617000													18	81					0	0	0.000958276	0	0
ALPK1	80216	broad.mit.edu	37	4	113353568	113353568	+	Silent	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:113353568G>C	ENST00000458497.1	+	11	3144	c.2865G>C	c.(2863-2865)ggG>ggC	p.G955G	ALPK1_ENST00000177648.9_Silent_p.G955G|ALPK1_ENST00000504176.2_Silent_p.G877G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	955	Ser-rich.						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)		ATTCCAGTGGGAGTTCTTGGG	0.512000													13	68					0	0	0.00185496	0	0
MANEA	79694	broad.mit.edu	37	6	96052716	96052716	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:96052716T>G	ENST00000358812.4	+	4	802	c.668T>G	c.(667-669)aTa>aGa	p.I223R	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	223	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		ACTTTTCACATAGAACCATAT	0.224000													3	15					0	0	0.00024832	0	0
UNC13A	23025	broad.mit.edu	37	19	17737530	17737530	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:17737530T>C	ENST00000428389.2	-	35	4248	c.4249A>G	c.(4249-4251)Aca>Gca	p.T1417A	UNC13A_ENST00000519716.2_Missense_Mutation_p.T1329A|UNC13A_ENST00000552293.1_Missense_Mutation_p.T1329A|UNC13A_ENST00000550896.1_Missense_Mutation_p.T1327A|UNC13A_ENST00000252773.7_Missense_Mutation_p.T1329A|UNC13A_ENST00000551649.1_Missense_Mutation_p.T1329A			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1329	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACATTGCCTGTGCCCTTAACC	0.592000													8	12					0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179424503	179424503	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:179424503C>G	ENST00000589042.1	-	326	86580	c.86356G>C	c.(86356-86358)Gtc>Ctc	p.V28786L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V19846L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26218L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V19913L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V19721L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V27145L|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27145	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCACAAGACATTGGGTACT	0.438000													38	93					0	0	0.00428921	0	0
GPR112	139378	broad.mit.edu	37	X	135431895	135431895	+	Silent	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:135431895C>G	ENST00000394143.1	+	6	6321	c.6030C>G	c.(6028-6030)ctC>ctG	p.L2010L	GPR112_ENST00000412101.1_Silent_p.L1805L|GPR112_ENST00000394141.1_Silent_p.L1805L|GPR112_ENST00000370652.1_Silent_p.L2010L|GPR112_ENST00000287534.4_Silent_p.L1947L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2010					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGACATGGCTCTTATCTAGTC	0.453000													19	138					0	0	0.00074312	0	0
AIRE	326	broad.mit.edu	37	21	45709685	45709685	+	Splice_Site	SNP	C	C	T	rs41277550	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr21:45709685C>T	ENST00000291582.5	+	6	925	c.798_splice	c.e6+1	p.P266_splice		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	266	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCGCTGCCCCCGTAAGCACCT	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				18	34					0	0	0.00074312	0	0
HOXA1	3198	broad.mit.edu	37	7	27134145	27134145	+	Missense_Mutation	SNP	C	C	T	rs41311760		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:27134145C>T	ENST00000343060.4	-	2	983	c.922G>A	c.(922-924)Gag>Aag	p.E308K	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	308						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAGGATTCCTCGGCCTTCTCG	0.597000													11	47					0	0	0.000673444	0	0
EIF4G3	8672	broad.mit.edu	37	1	21186878	21186878	+	Splice_Site	SNP	C	C	A	rs10916883		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:21186878C>A	ENST00000602326.1	-	22	3677	c.3094_splice	c.e22+1	p.G1032_splice	EIF4G3_ENST00000537738.1_Splice_Site_p.G516_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.G1026_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.G746_splice|EIF4G3_ENST00000536266.1_Splice_Site_p.G630_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.G1032_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.G1026_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1026					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CCGGCCTCACCTGGTCTTCTC	0.393000													39	108					2.47872e-24	1.01585e-23	0.0025221	1	0
SBDS	51119	broad.mit.edu	37	7	66456261	66456261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:66456261C>G	ENST00000246868.2	-	4	670	c.487G>C	c.(487-489)Gag>Cag	p.E163Q		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	163					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TTCATTTTCTCTTTTAACTGC	0.368000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				8	26					0	0	0.000442599	0	0
KRT23	25984	broad.mit.edu	37	17	39086308	39086308	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:39086308C>G	ENST00000209718.3	-	4	944	c.520G>C	c.(520-522)Gaa>Caa	p.E174Q	KRT23_ENST00000436344.3_Missense_Mutation_p.E37Q|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	174	Coil 1B.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				CCCTCGACTTCAATTTCCAAG	0.443000													21	95					0	0	0.00152264	0	0
ZNF430	80264	broad.mit.edu	37	19	21239886	21239886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:21239886G>C	ENST00000261560.5	+	5	953	c.772G>C	c.(772-774)Gag>Cag	p.E258Q		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCATACTGGAGAGAAACCCTA	0.368000													5	50					0	0	0.000602214	0	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTGTTCCGTCCCAGTAGATT	0.517000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			8	10					0	0	0.00307968	0	0
KIAA1210	57481	broad.mit.edu	37	X	118220797	118220797	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:118220797G>T	ENST00000402510.2	-	11	4395	c.4396C>A	c.(4396-4398)Cta>Ata	p.L1466I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1466										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGATTGGATAGGTTTGCATGC	0.433000													11	80					6.42651e-13	2.50229e-12	0.000978159	1	0
ZIC3	7547	broad.mit.edu	37	X	136649666	136649666	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:136649666C>T	ENST00000287538.5	+	1	1366	c.816C>T	c.(814-816)ttC>ttT	p.F272F	ZIC3_ENST00000370606.3_Silent_p.F272F	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	272					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACCGGACCTTCAGCACCATGC	0.612000													9	94					0	0	0.000274275	0	0
SEL1L2	80343	broad.mit.edu	37	20	13839936	13839936	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr20:13839936A>T	ENST00000284951.5	-	18	1864	c.1790T>A	c.(1789-1791)aTg>aAg	p.M597K	SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	597						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTGTTCATACATATAAGCCAG	0.413000													8	31					0	0	0.00307968	0	0
LRBA	987	broad.mit.edu	37	4	151388836	151388836	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:151388836C>T	ENST00000535741.1	-	44	7242	c.6769G>A	c.(6769-6771)Gat>Aat	p.D2257N	LRBA_ENST00000510413.1_Missense_Mutation_p.D2257N|LRBA_ENST00000357115.3_Missense_Mutation_p.D2268N|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000507224.1_Missense_Mutation_p.D2257N			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2268	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGGACAAATCTCTGAAGTTG	0.313000													8	54					0	0	0.000274275	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513058	70513058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:70513058G>A	ENST00000503640.1	-	1	360	c.305C>T	c.(304-306)tCa>tTa	p.S102L	UGT2A1_ENST00000286604.4_Missense_Mutation_p.S102L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S102L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S102L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	102					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCAAATGGTTGAAGGAGATGG	0.413000													11	60					0	0	0.000978159	0	0
DDX41	51428	broad.mit.edu	37	5	176943153	176943153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:176943153C>A	ENST00000507955.1	-	4	863	c.340G>T	c.(340-342)Gag>Tag	p.E114*	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	114					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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;0.191)			AGGATCTTCTCTTCTTCCTTC	0.522000													39	205					6.45866e-13	2.50229e-12	0.00195071	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589638	140589638	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:140589638G>A	ENST00000239450.2	+	1	1348	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	PCDHB12_ENST00000541609.1_Missense_Mutation_p.E50K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		387	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTATCCCGGAGGACATCCC	0.468000													12	45					0	0	0.000978159	0	0
MRPS7	51081	broad.mit.edu	37	17	73258060	73258060	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:73258060C>G	ENST00000579761.1	+	1	306	c.79C>G	c.(79-81)Cca>Gca	p.P27A	GGA3_ENST00000582717.1_Intron|GGA3_ENST00000582486.1_Intron|MRPS7_ENST00000579002.1_5'UTR|GGA3_ENST00000579743.1_Intron|MRPS7_ENST00000245539.6_Missense_Mutation_p.P27A|GGA3_ENST00000578348.1_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	27					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CTTGCAGCTTCCAGGGTGAGA	0.721000													10	61					0	0	0.00185496	0	0
MPP1	4354	broad.mit.edu	37	X	154033634	154033634	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:154033634C>T	ENST00000369534.3	-	1	162	c.15G>A	c.(13-15)gcG>gcA	p.A5A	MPP1_ENST00000393531.1_Silent_p.A5A|MPP1_ENST00000413259.3_5'UTR	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	5					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGCCCTCGCTCGCCTTGAGGG	0.672000													4	25					0	0	0.000602214	0	0
RHOA	387	broad.mit.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q|RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	ACATAGTTCTCAAACACTGTG	0.438000													24	103					0	0	0.00278032	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967283	142967283	+	Silent	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:142967283A>G	ENST00000370494.1	+	1	111	c.81A>G	c.(79-81)ccA>ccG	p.P27P		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	27							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCAGAACCAGATGAAAGCA	0.512000													44	111					0	0	0.00321405	0	0
CXorf23	256643	broad.mit.edu	37	X	19983783	19983783	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:19983783G>C	ENST00000379687.3	-	3	686	c.653C>G	c.(652-654)tCa>tGa	p.S218*	CXorf23_ENST00000379682.4_Nonsense_Mutation_p.S218*|CXorf23_ENST00000356980.3_Nonsense_Mutation_p.S218*	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	218						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AGGTCTTTTTGATGTGTGTCC	0.438000													22	101					0	0	0.00278032	0	0
OR13H1	347468	broad.mit.edu	37	X	130678614	130678614	+	Silent	SNP	T	T	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:130678614T>G	ENST00000338616.3	+	1	665	c.567T>G	c.(565-567)tcT>tcG	p.S189S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TGACCTGTTCTGATACCAGCC	0.463000													49	246					0	0	0.00361006	0	0
GFM1	85476	broad.mit.edu	37	3	158363454	158363454	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:158363454G>A	ENST00000486715.1	+	2	475	c.118G>A	c.(118-120)Gtg>Atg	p.V40M	GFM1_ENST00000478576.1_Missense_Mutation_p.V40M|GFM1_ENST00000264263.5_Missense_Mutation_p.V40M	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	40					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTCATCAGGGGTGATTCCTAA	0.373000													10	49					0	0	0.000673444	0	0
VPS13D	55187	broad.mit.edu	37	1	12443108	12443108	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:12443108T>G	ENST00000358136.3	+	58	11394	c.11264T>G	c.(11263-11265)tTg>tGg	p.L3755W	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.L3730W	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3754					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGGAGCTTTTGGGGCCAGTT	0.433000													49	102					0	0	0.00361006	0	0
GIPC3	126326	broad.mit.edu	37	19	3586841	3586841	+	Silent	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:3586841G>A	ENST00000322315.5	+	3	486	c.441G>A	c.(439-441)cgG>cgA	p.R147R		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	147	PDZ.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATCAACCGGATCGAGGCAG	0.622000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	15					0	0	0.00116845	0	0
LENG8	114823	broad.mit.edu	37	19	54968931	54968931	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:54968931G>C	ENST00000326764.5	+	12	2216	c.1737G>C	c.(1735-1737)ttG>ttC	p.L579F	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	542							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTCAGGTTTTGAAAAAGTCGC	0.493000													11	87					0	0	0.00185496	0	0
MNDA	4332	broad.mit.edu	37	1	158817523	158817523	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:158817523C>T	ENST00000368141.4	+	6	1254	c.993C>T	c.(991-993)agC>agT	p.S331S		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	331	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.S331S(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TGCAGAAAAGCGTACACAAGA	0.368000													9	40					0	0	0.000274275	0	0
CDKN1B	1027	broad.mit.edu	37	12	12870859	12870859	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:12870859G>T	ENST00000228872.4	+	1	802	c.86G>T	c.(85-87)tGc>tTc	p.C29F	CDKN1B_ENST00000396340.1_Missense_Mutation_p.C29F|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	29					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCCTCGGCCTGCAGGAACCTC	0.617000													37	71					1.90571e-15	7.6336e-15	0.00428921	1	0
TFCP2L1	29842	broad.mit.edu	37	2	122038715	122038715	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:122038715C>T	ENST00000263707.5	-	2	292	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	65					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GGTAGGTCAGCGTCTCTTCAT	0.627000													12	69					0	0	0.00136819	0	0
DNAH10	196385	broad.mit.edu	37	12	124413860	124413860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:124413860G>A	ENST00000409039.3	+	70	12016	c.11991G>A	c.(11989-11991)atG>atA	p.M3997I	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3997	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AACTCAACATGAGGGCAACTT	0.537000													4	16					0	0	0.00024832	0	0
PKM	5315	broad.mit.edu	37	15	72509817	72509817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:72509817G>A	ENST00000319622.6	-	3	635	c.179C>T	c.(178-180)aCg>aTg	p.T60M	PKM_ENST00000449901.2_Intron|PKM_ENST00000568883.1_Intron|PKM_ENST00000389093.3_Missense_Mutation_p.T60M|PKM_ENST00000568459.1_Missense_Mutation_p.T60M|PKM_ENST00000565154.1_Missense_Mutation_p.T60M|PKM_ENST00000565184.1_Missense_Mutation_p.T60M|PKM_ENST00000335181.5_Missense_Mutation_p.T60M	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CTCCTTCAACGTCTCCACTGA	0.408000													13	69					0	0	0.00244969	0	0
ADD1	118	broad.mit.edu	37	4	2877732	2877732	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:2877732G>C	ENST00000355842.3	+	3	953	c.90G>C	c.(88-90)gaG>gaC	p.E30D	ADD1_ENST00000503455.2_Missense_Mutation_p.E30D|ADD1_ENST00000513328.2_Missense_Mutation_p.E30D|ADD1_ENST00000446856.1_Missense_Mutation_p.E30D|ADD1_ENST00000398123.2_Missense_Mutation_p.E30D|ADD1_ENST00000398125.1_Missense_Mutation_p.E30D|ADD1_ENST00000398129.1_Missense_Mutation_p.E30D|ADD1_ENST00000264758.7_Missense_Mutation_p.E30D			P35611	ADDA_HUMAN	adducin 1 (alpha)	30					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGTAGATGAGAACAACCCAG	0.517000													27	98					0	0	0.000720815	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115808	54115808	+	Splice_Site	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:54115808C>T	ENST00000548263.1	-	5	658		c.e5+1		CALCOCO1_ENST00000430117.2_Splice_Site|CALCOCO1_ENST00000262059.4_Splice_Site|CALCOCO1_ENST00000550804.1_Splice_Site			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1						steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCAGCTCCCACCTTGTACTGT	0.597000													8	68					0	0	0.00307968	0	0
EGFR	1956	broad.mit.edu	37	7	55233026	55233026	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:55233026C>T	ENST00000275493.2	+	15	1953	c.1776C>T	c.(1774-1776)gtC>gtT	p.V592V	EGFR_ENST00000442591.1_Silent_p.V592V|EGFR_ENST00000342916.3_Silent_p.V592V|EGFR_ENST00000455089.1_Silent_p.V547V|EGFR_ENST00000344576.2_Silent_p.V592V|EGFR_ENST00000454757.2_Silent_p.V539V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	592					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCCACTGCGTCAAGACCTGCC	0.547000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	607					0	0	0.00278032	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33667250	33667250	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:33667250G>A	ENST00000321505.4	+	16	4717	c.4537G>A	c.(4537-4539)Gag>Aag	p.E1513K	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.E1519K					KIAA1549-like																		TGAAATCATAGAGGAAACCAA	0.498000													27	84					0	0	0.000720815	0	0
OR4M1	441670	broad.mit.edu	37	14	20248671	20248671	+	Missense_Mutation	SNP	G	G	T	rs114064896	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:20248671G>T	ENST00000315957.4	+	1	271	c.190G>T	c.(190-192)Gct>Tct	p.A64S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCCTGTTGGCTAATCTGGC	0.408000													28	442					2.61193e-14	1.02881e-13	0.00178596	1	0
SF3B3	23450	broad.mit.edu	37	16	70590833	70590833	+	Silent	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:70590833T>C	ENST00000302516.5	+	15	2122	c.1911T>C	c.(1909-1911)ccT>ccC	p.P637P		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	637					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				CAGCCCAGCCTGAGTCCTTGT	0.473000													3	70					0	0	0.00024832	0	0
CNTN1	1272	broad.mit.edu	37	12	41421672	41421672	+	Silent	SNP	T	T	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:41421672T>A	ENST00000551295.2	+	22	2841	c.2724T>A	c.(2722-2724)ccT>ccA	p.P908P	CNTN1_ENST00000550305.1_3'UTR|CNTN1_ENST00000347616.1_Silent_p.P908P|CNTN1_ENST00000348761.2_Silent_p.P897P	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	908	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTAGCCAGCCTCCAAGGATCA	0.408000													20	31					0	0	0.000958276	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													3	12					0	0	0.000602214	0	0
KALRN	8997	broad.mit.edu	37	3	124165030	124165030	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:124165030G>T	ENST00000360013.3	+	20	3457	c.3330G>T	c.(3328-3330)caG>caT	p.Q1110H	KALRN_ENST00000460856.1_Missense_Mutation_p.Q1101H|KALRN_ENST00000240874.3_Missense_Mutation_p.Q1110H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1110					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTCCTGCAGAGGGAGAATC	0.577000													12	60					2.27111e-07	8.47483e-07	0.00136819	1	0
CDC42BPG	55561	broad.mit.edu	37	11	64606237	64606237	+	Silent	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:64606237T>C	ENST00000342711.5	-	8	1013	c.1014A>G	c.(1012-1014)gaA>gaG	p.E338E		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	338	AGC-kinase C-terminal.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGTCCACGCCTTCGAAGAAAG	0.637000													29	66					0	0	0.00106085	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589962	140589962	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:140589962G>A	ENST00000239450.2	+	1	1672	c.1483G>A	c.(1483-1485)Gac>Aac	p.D495N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D158N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		495	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGTCCCAGGACCCGCACCT	0.662000													22	159					0	0	0.00278032	0	0
FAM3A	60343	broad.mit.edu	37	X	153736911	153736911	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:153736911A>T	ENST00000434658.2	-	4	638	c.169T>A	c.(169-171)Tac>Aac	p.Y57N	FAM3A_ENST00000447601.2_Missense_Mutation_p.Y57N|FAM3A_ENST00000369641.3_Missense_Mutation_p.Y57N|FAM3A_ENST00000359889.5_Missense_Mutation_p.Y57N|FAM3A_ENST00000369643.1_Missense_Mutation_p.Y57N|FAM3A_ENST00000393572.1_Missense_Mutation_p.Y19N	NM_001171134.1	NP_001164605.1	P98173	FAM3A_HUMAN	family with sequence similarity 3, member A	57						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCACACTTGTACTTCCTGGCC	0.647000													6	11					0	0	0.00116845	0	0
GABRG2	2566	broad.mit.edu	37	5	161531032	161531032	+	Splice_Site	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:161531032G>T	ENST00000356592.3	+	6	1229	c.769_splice	c.e6+1	p.G257_splice	GABRG2_ENST00000361925.4_Splice_Site_p.G257_splice|GABRG2_ENST00000393933.4_Splice_Site_p.G162_splice|GABRG2_ENST00000414552.2_Splice_Site_p.G297_splice	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	257					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GACAACTTCCGGTAAGATGCA	0.383000													16	34					2.5808e-16	1.03965e-15	0.00074312	1	0
DUOX1	53905	broad.mit.edu	37	15	45433157	45433157	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:45433157G>A	ENST00000321429.4	+	14	1861	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E	DUOX1_ENST00000561166.1_Missense_Mutation_p.G131E|DUOX1_ENST00000389037.3_Missense_Mutation_p.G485E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	485	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTCCCTGGGGGACTCCTGGAG	0.572000													27	79					0	0	0.000720815	0	0
DUSP3	1845	broad.mit.edu	37	17	41847077	41847077	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:41847077A>G	ENST00000226004.3	-	3	521	c.458T>C	c.(457-459)aTc>aCc	p.I153T	DUSP3_ENST00000397937.2_Missense_Mutation_p.I112T	NM_004090.3	NP_004081.1	P51452	DUS3_HUMAN	dual specificity phosphatase 3	153	Tyrosine-protein phosphatase.				inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of JNK cascade|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|immunological synapse|nucleoplasm	MAP kinase phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	7		Breast(137;0.00725)		BRCA - Breast invasive adenocarcinoma(366;0.116)		CTGCCTCACGATGCTCAGGGC	0.582000													9	53					0	0	0.000673444	0	0
ZNF418	147686	broad.mit.edu	37	19	58438232	58438232	+	Silent	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:58438232G>T	ENST00000396147.1	-	4	1608	c.1317C>A	c.(1315-1317)ggC>ggA	p.G439G	ZNF418_ENST00000599852.1_Silent_p.G354G|ZNF418_ENST00000425570.3_Silent_p.G460G|ZNF418_ENST00000595830.1_Silent_p.G439G|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GAATGAGGTTGCCCTTTCGAC	0.473000													41	149					1.59361e-14	6.34758e-14	0.00148497	1	0
TAOK2	9344	broad.mit.edu	37	16	30002132	30002132	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:30002132G>A	ENST00000279394.3	+	18	2876	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	704	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCAGGAGGCAGAGTTCCAGGC	0.602000													9	54					0	0	0.00136819	0	0
VWA9	81556	broad.mit.edu	37	15	65888131	65888131	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:65888131C>T	ENST00000395644.4	-	7	1116	c.781G>A	c.(781-783)Gat>Aat	p.D261N	VWA9_ENST00000567744.1_Missense_Mutation_p.D297N|VWA9_ENST00000313182.2_Missense_Mutation_p.D261N|VWA9_ENST00000442903.3_Missense_Mutation_p.D225N|VWA9_ENST00000420799.2_Missense_Mutation_p.D204N|VWA9_ENST00000431261.2_Missense_Mutation_p.D182N|VWA9_ENST00000569491.1_Missense_Mutation_p.D212N					von Willebrand factor A domain containing 9																		CTTGAAATATCAGCTATATCA	0.353000													7	32					0	0	0.00198382	0	0
ASPM	259266	broad.mit.edu	37	1	197115515	197115515	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:197115515C>T	ENST00000367409.4	-	1	309	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	ASPM_ENST00000294732.7_Missense_Mutation_p.R18Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	18					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						gggcggcctccgctcggtcgg	0.711000													10	44					0	0	0.000673444	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427812	197427812	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:197427812C>G	ENST00000273582.5	-	7	1298	c.753G>C	c.(751-753)caG>caC	p.Q251H	KIAA0226_ENST00000389665.5_Missense_Mutation_p.Q311H|KIAA0226_ENST00000296343.5_Missense_Mutation_p.Q311H|KIAA0226_ENST00000449205.1_Missense_Mutation_p.Q311H	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	311	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GGGAATCATTCTGGCTGCTGA	0.577000													9	61					0	0	0.000442599	0	0
DCAF4	26094	broad.mit.edu	37	14	73408452	73408452	+	Splice_Site	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:73408452G>C	ENST00000553457.1	+	4	341		c.e4-1		DCAF4_ENST00000555042.1_Splice_Site|DCAF4_ENST00000509153.1_Intron|DCAF4_ENST00000358377.2_Splice_Site|DCAF4_ENST00000394234.2_Splice_Site|DCAF4_ENST00000353777.3_Intron			Q8WV16	DCAF4_HUMAN	DDB1 and CUL4 associated factor 4							CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						AATAAATATAGATTGCCAGGA	0.368000													39	75					0	0	0.00170553	0	0
SLC31A1	1317	broad.mit.edu	37	9	116022567	116022567	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr9:116022567C>T	ENST00000374212.4	+	5	539	c.387C>T	c.(385-387)agC>agT	p.S129S	SLC31A1_ENST00000374210.6_Silent_p.S129S|CDC26_ENST00000490408.1_Intron	NM_001859.3	NP_001850.1	O15431	COPT1_HUMAN	solute carrier family 31 (copper transporter), member 1	129						integral to plasma membrane	copper ion transmembrane transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7						AGATGCTGAGCTTTCCTCACC	0.498000													20	84					0	0	0.00121646	0	0
CLK2	1196	broad.mit.edu	37	1	155234561	155234561	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:155234561C>T	ENST00000368361.4	-	9	1253	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	CLK2_ENST00000536801.1_Missense_Mutation_p.R313Q|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Missense_Mutation_p.R311Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R312Q			P49760	CLK2_HUMAN	CDC-like kinase 2	313	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGCTCATCTCGCTTCTAGGA	0.507000								Other conserved DNA damage response genes					27	31					0	0	0.00395357	0	0
CUBN	8029	broad.mit.edu	37	10	16911693	16911693	+	Silent	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr10:16911693G>A	ENST00000377833.4	-	59	9461	c.9396C>T	c.(9394-9396)ttC>ttT	p.F3132F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3132	CUB 23.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATCTGTCTTGAACACCAGGA	0.453000													37	147					0	0	0.00128727	0	0
KLHL22	84861	broad.mit.edu	37	22	20800823	20800823	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr22:20800823C>T	ENST00000328879.4	-	6	1602	c.1446G>A	c.(1444-1446)cgG>cgA	p.R482R	KLHL22_ENST00000440659.2_Silent_p.R339R	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	482					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCCAGGCGCGCCGCACAGGCC	0.602000													19	93					0	0	0.00074312	0	0
CIT	11113	broad.mit.edu	37	12	120172977	120172977	+	Silent	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:120172977G>A	ENST00000392521.2	-	25	3199	c.3144C>T	c.(3142-3144)acC>acT	p.T1048T	CIT_ENST00000261833.7_Silent_p.T1006T|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1006					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GCTTCTGGCTGGTAAGCTGCA	0.522000													16	79					0	0	0.000566183	0	0
METTL17	64745	broad.mit.edu	37	14	21464085	21464085	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:21464085C>A	ENST00000339374.6	+	11	1204	c.971C>A	c.(970-972)cCt>cAt	p.P324H	RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000382985.4_Missense_Mutation_p.P324H|METTL17_ENST00000556670.2_Missense_Mutation_p.P324H	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	324					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CCTTTGGACCCTCGACCTGGT	0.453000													15	454					1.99824e-07	7.49603e-07	0.000566183	1	0
PSMB8	5696	broad.mit.edu	37	6	32808747	32808747	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:32808747C>A	ENST00000374881.2	-	6	1097	c.808G>T	c.(808-810)Gcc>Tcc	p.A270S	PSMB8_ENST00000374882.3_Missense_Mutation_p.A274S|PSMB8_ENST00000395339.3_Missense_Mutation_p.A250S	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	274					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|interspecies interaction between organisms|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|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TATTGATTGGCTTCCCGGTAC	0.512000													16	46					2.23348e-06	8.20487e-06	0.00400662	1	0
GABRB2	2561	broad.mit.edu	37	5	160973365	160973365	+	Silent	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:160973365C>G	ENST00000274547.2	-	3	349	c.132G>C	c.(130-132)ctG>ctC	p.L44L	GABRB2_ENST00000393959.1_Silent_p.L44L|GABRB2_ENST00000520240.1_Silent_p.L44L|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000517901.1_Intron|GABRB2_ENST00000353437.6_Silent_p.L44L	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	44					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATAGCCTTTCAGGAGTCTAT	0.453000													6	35					0	0	0.00116845	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580954	140580954	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:140580954G>A	ENST00000354757.3	+	1	1607	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.R171H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACCGCGGCTCCCCG	0.667000													48	88					0	0	0.00361006	0	0
XPO1	7514	broad.mit.edu	37	2	61711150	61711150	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:61711150G>A	ENST00000401558.2	-	21	3326	c.2599C>T	c.(2599-2601)Cca>Tca	p.P867S	RP11-355B11.2_ENST00000578974.2_RNA|XPO1_ENST00000404992.2_Missense_Mutation_p.P867S|XPO1_ENST00000406957.1_Missense_Mutation_p.P867S	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	867					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TGTGTAGGTGGAATAGCAAGG	0.348000			Mis		CLL								13	71					0	0	0.00136819	0	0
HSPA4L	22824	broad.mit.edu	37	4	128753927	128753927	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:128753927C>G	ENST00000296464.3	+	19	2829	c.2418C>G	c.(2416-2418)caC>caG	p.H806Q	HSPA4L_ENST00000505726.1_Missense_Mutation_p.H780Q|HSPA4L_ENST00000439123.2_Missense_Mutation_p.H837Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.H806Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	806				H -> R (in Ref. 1; BAA75063).	protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						ATAGTGAACACAATGGCCCAA	0.408000													12	61					0	0	0.000978159	0	0
MYO9A	4649	broad.mit.edu	37	15	72244166	72244166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:72244166G>A	ENST00000356056.5	-	15	2726	c.2254C>T	c.(2254-2256)Cac>Tac	p.H752Y	MYO9A_ENST00000444904.1_Missense_Mutation_p.H733Y|MYO9A_ENST00000566885.1_Missense_Mutation_p.H347Y|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.H752Y|MYO9A_ENST00000564571.1_Missense_Mutation_p.H752Y	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	752					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCCTCTGGTGGACTGGGTGT	0.383000													24	134					0	0	0.00332997	0	0
ARMC8	25852	broad.mit.edu	37	3	138003316	138003316	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:138003316A>G	ENST00000469044.1	+	19	2040	c.1769A>G	c.(1768-1770)aAa>aGa	p.K590R	ARMC8_ENST00000481646.1_Missense_Mutation_p.K576R|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.K580R|NME9_ENST00000383180.2_Intron|NME9_ENST00000536478.1_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.K523R|ARMC8_ENST00000491704.1_Missense_Mutation_p.K548R|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.K517R|ARMC8_ENST00000538260.1_Missense_Mutation_p.K559R|NME9_ENST00000341790.5_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	590							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ACAACAGCAAAAGATCTTATT	0.443000													77	156					0	0	0.00361006	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032551	21032551	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:21032551C>T	ENST00000381545.3	+	11	1536	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	LST3_ENST00000540229.1_Silent_p.T439T|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.T439T|SLCO1B3_ENST00000553473.1_Silent_p.T439T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	439					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CCGGCCTAACCTTGACCTATG	0.313000													18	47					0	0	0.000958276	0	0
ANKHD1	54882	broad.mit.edu	37	5	139838838	139838838	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:139838838C>G	ENST00000297183.6	+	9	1694	c.1570C>G	c.(1570-1572)Ctt>Gtt	p.L524V	ANKHD1_ENST00000394722.3_Missense_Mutation_p.L513V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.L524V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L524V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L524V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGACTTTCTTATTAAGGC	0.443000													15	60					0	0	0.00244969	0	0
FIG4	9896	broad.mit.edu	37	6	110112620	110112620	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:110112620C>T	ENST00000230124.3	+	20	2346	c.2222C>T	c.(2221-2223)aCg>aTg	p.T741M	FIG4_ENST00000441478.2_Missense_Mutation_p.T464M	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	741					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		CAGCGGAAAACGGCAGCCAGC	0.507000													14	127					0	0	0.00185496	0	0
TCL1A	8115	broad.mit.edu	37	14	96178699	96178699	+	Missense_Mutation	SNP	C	C	T	rs146705048	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:96178699C>T	ENST00000402399.1	-	2	284	c.155G>A	c.(154-156)cGt>cAt	p.R52H	RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.R52H|TCL1A_ENST00000554012.1_Missense_Mutation_p.R52H|TCL1A_ENST00000556450.1_Missense_Mutation_p.R52H|RP11-164H13.1_ENST00000553445.1_RNA	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	52					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GTCTTCCCGACGCAAGAGCAC	0.567000			T	TRA@	T-CLL								21	96					0	0	0.00332997	0	0
ABRA	137735	broad.mit.edu	37	8	107782160	107782160	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr8:107782160C>T	ENST00000311955.3	-	1	313	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	87					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCATGTCCTTCTGGCAGGCGG	0.532000													18	124					0	0	0.00121646	0	0
KCNV1	27012	broad.mit.edu	37	8	110986443	110986443	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr8:110986443A>T	ENST00000524391.1	-	2	1207	c.175T>A	c.(175-177)Tgc>Agc	p.C59S	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.C59S			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	59						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGCGGGAAGCAGGACAGCGCC	0.711000													3	5					0	0	6.4e-05	0	0
PHF3	23469	broad.mit.edu	37	6	64423243	64423243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:64423243G>A	ENST00000262043.3	+	16	6099	c.5759G>A	c.(5758-5760)cGc>cAc	p.R1920H	PHF3_ENST00000393387.1_Missense_Mutation_p.R1920H			Q92576	PHF3_HUMAN	PHD finger protein 3	1920					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAGGGGACCGCCAGAGATTT	0.473000													47	81					0	0	0.00321405	0	0
PALLD	23022	broad.mit.edu	37	4	169611844	169611844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:169611844C>T	ENST00000335742.7	+	7	1637	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	PALLD_ENST00000333488.4_Missense_Mutation_p.R353W|PALLD_ENST00000512127.1_Missense_Mutation_p.R94W|PALLD_ENST00000261509.6_Missense_Mutation_p.R476W|PALLD_ENST00000505667.1_Missense_Mutation_p.R476W			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	476					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CCAGTGGTTTCGGCAAGGGAG	0.527000									Pancreatic Cancer, Familial Clustering of				28	131					0	0	0.000878237	0	0
QRFPR	84109	broad.mit.edu	37	4	122257976	122257976	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:122257976C>T	ENST00000394427.2	-	3	958	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	QRFPR_ENST00000334383.5_Missense_Mutation_p.V183M	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	183						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						AGTTGTTGCACGTGCCACATG	0.423000													97	223					0	0	0.00361006	0	0
WDR7	23335	broad.mit.edu	37	18	54358527	54358527	+	Silent	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr18:54358527C>G	ENST00000254442.3	+	8	1009	c.798C>G	c.(796-798)gtC>gtG	p.V266V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.V266V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	266										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GGGACTTTGTCTCATCAGATA	0.418000													35	58					0	0	0.00283554	0	0
EBF1	1879	broad.mit.edu	37	5	158524010	158524010	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:158524010G>T	ENST00000313708.6	-	2	545	c.263C>A	c.(262-264)gCg>gAg	p.A88E	EBF1_ENST00000517373.1_Missense_Mutation_p.A88E|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.A88E	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	88					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCCACAAACGCTGTCCTCTC	0.637000			T	HMGA2	lipoma								12	23					1.61879e-10	6.17056e-10	0.00136819	1	0
LIPG	9388	broad.mit.edu	37	18	47107900	47107900	+	Silent	SNP	C	C	T	rs34325187		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr18:47107900C>T	ENST00000261292.4	+	6	1187	c.909C>T	c.(907-909)ttC>ttT	p.F303F	LIPG_ENST00000577628.1_Silent_p.F339F|LIPG_ENST00000580036.1_Silent_p.F303F|LIPG_ENST00000427224.2_Silent_p.F229F	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	303					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CCAATCGCTTCAAAAAGGGGA	0.468000													17	116					0	0	0.00074312	0	0
HERC1	8925	broad.mit.edu	37	15	63978604	63978604	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:63978604T>C	ENST00000443617.2	-	34	6266	c.6179A>G	c.(6178-6180)tAt>tGt	p.Y2060C	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2060	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGCCAATCCATATCCTTTCCC	0.408000													80	143					0	0	0.00361006	0	0
TRAF7	84231	broad.mit.edu	37	16	2218133	2218133	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:2218133C>T	ENST00000326181.6	+	4	327	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	65					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CCTCCAGCACCCTTGCCTACT	0.672000													5	17					0	0	0.00116845	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267977	103267977	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:103267977G>A	ENST00000217926.5	-	1	282	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	86					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGCACCCGGCGGAAATAGGTG	0.622000													11	102					0	0	0.000978159	0	0
SORBS2	8470	broad.mit.edu	37	4	186545017	186545017	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:186545017C>G	ENST00000431808.1	-	14	2117	c.1554G>C	c.(1552-1554)caG>caC	p.Q518H	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.Q422H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.Q618H|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.Q518H|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	518						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATTTGGACTTCTGGATCAGCT	0.562000													16	79					0	0	0.00316338	0	0
NFIC	4782	broad.mit.edu	37	19	3452481	3452481	+	Splice_Site	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:3452481G>T	ENST00000589123.1	+	8	1179	c.1057_splice	c.e8-1	p.G353_splice	NFIC_ENST00000590282.1_Splice_Site_p.G362_splice|NFIC_ENST00000346156.5_Splice_Site_p.G329_splice|NFIC_ENST00000395111.3_Splice_Site_p.G353_splice|NFIC_ENST00000586919.1_Splice_Site_p.G329_splice|NFIC_ENST00000443272.2_Splice_Site_p.G362_splice|NFIC_ENST00000341919.3_Splice_Site_p.G362_splice	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	362					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		TCTCCGCAGGGATCGCCCGGA	0.647000													52	181					1.46156e-29	6.05991e-29	0.00361006	1	0
HTR3E	285242	broad.mit.edu	37	3	183824397	183824397	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:183824397C>T	ENST00000415389.2	+	9	1753	c.1287C>T	c.(1285-1287)caC>caT	p.H429H	HTR3E_ENST00000335304.2_Silent_p.H444H|HTR3E_ENST00000440596.2_Silent_p.H455H|HTR3E_ENST00000436361.2_Silent_p.H429H|HTR3E_ENST00000425359.2_Silent_p.H414H	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	429						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGTTCAGCCACGCGATGGACG	0.607000													22	97					0	0	0.00278032	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267902	103267902	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:103267902G>C	ENST00000217926.5	-	1	357	c.331C>G	c.(331-333)Cat>Gat	p.H111D		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	111					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AATATGTCATGAACCAAAGAA	0.637000													9	98					0	0	0.000442599	0	0
C9orf3	84909	broad.mit.edu	37	9	97522394	97522394	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr9:97522394C>T	ENST00000375315.2	+	1	329	c.329C>T	c.(328-330)tCt>tTt	p.S110F	C9orf3_ENST00000297979.5_Missense_Mutation_p.S110F|C9orf3_ENST00000277198.2_Missense_Mutation_p.S110F	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	110					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AAAGATACTTCTGATAAAGAT	0.408000													29	97					0	0	0.000878237	0	0
ENOX2	10495	broad.mit.edu	37	X	129799651	129799651	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:129799651C>T	ENST00000338144.3	-	10	1484	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	ENOX2_ENST00000370935.1_Missense_Mutation_p.R327Q|ENOX2_ENST00000394363.1_Missense_Mutation_p.R327Q|ENOX2_ENST00000370927.1_Missense_Mutation_p.R356Q	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	356					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GATGTTCTTCCGCTGGGCTTT	0.483000													4	22					0	0	0.00024832	0	0
TSC2	7249	broad.mit.edu	37	16	2121792	2121792	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:2121792G>C	ENST00000219476.3	+	19	2584	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	TSC2_ENST00000382538.6_Missense_Mutation_p.E603Q|TSC2_ENST00000401874.2_Missense_Mutation_p.E652Q|TSC2_ENST00000350773.4_Missense_Mutation_p.E652Q|TSC2_ENST00000353929.4_Missense_Mutation_p.E652Q|TSC2_ENST00000568454.1_Missense_Mutation_p.E663Q|TSC2_ENST00000439673.2_Missense_Mutation_p.E615Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	652					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAGGGAGCCAGAGAGAGGCTC	0.662000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				3	13					0	0	6.4e-05	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426919	111426919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:111426919G>C	ENST00000393934.3	+	2	880	c.310G>C	c.(310-312)Gaa>Caa	p.E104Q	PLCXD2_ENST00000477665.1_Missense_Mutation_p.E104Q	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	104	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						GACATTTCGAGAACAGCTGGA	0.522000													11	83					0	0	0.00316338	0	0
DMD	1756	broad.mit.edu	37	X	31947740	31947740	+	Silent	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:31947740G>C	ENST00000357033.4	-	47	7091	c.6885C>G	c.(6883-6885)ctC>ctG	p.L2295L	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378677.2_Silent_p.L2291L|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2295					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTGTCTGCTTGAGCTTATTTT	0.403000													16	84					0	0	0.000958276	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54117433	54117433	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:54117433C>T	ENST00000548263.1	-	4	442	c.394G>A	c.(394-396)Gag>Aag	p.E132K	CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E99K|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E132K|CALCOCO1_ENST00000550804.1_Missense_Mutation_p.E132K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	132	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCATCAGCCTCCTCCAGGGTC	0.577000													8	66					0	0	0.000673444	0	0
LRRC37A2	474170	broad.mit.edu	37	17	44626223	44626223	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:44626223G>C	ENST00000576629.1	+	10	4213	c.3718G>C	c.(3718-3720)Gag>Cag	p.E1240Q	ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.E1240Q|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000573185.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1240						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTTCACCCAAGAGCATAAGGC	0.592000													17	223					0	0	0.000958276	0	0
MYO5A	4644	broad.mit.edu	37	15	52632529	52632529	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:52632529C>A	ENST00000399231.3	-	32	4346	c.4103G>T	c.(4102-4104)cGt>cTt	p.R1368L	MYO5A_ENST00000356338.6_Missense_Mutation_p.R1341L|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1365L|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1341L|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1368L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1368					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GATCTCCCCACGGAGGGCCTC	0.637000													19	82					5.03518e-11	1.94019e-10	0.000958276	1	0
ELF3	1999	broad.mit.edu	37	1	201981088	201981088	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:201981088A>G	ENST00000359651.3	+	2	3359	c.167A>G	c.(166-168)aAg>aGg	p.K56R	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.K56R|ELF3_ENST00000367283.3_Missense_Mutation_p.K56R|ELF3_ENST00000495848.1_3'UTR			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	56	PNT.			EK -> GE (in Ref. 7; CAD29859).	epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CTTGCAGAGAAGGCCAGCTGG	0.547000													70	110					0	0	0.00361006	0	0
ASGR1	432	broad.mit.edu	37	17	7077514	7077514	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:7077514G>T	ENST00000574388.1	-	5	1212	c.420C>A	c.(418-420)gaC>gaA	p.D140E	ASGR1_ENST00000269299.3_Missense_Mutation_p.D179E|ASGR1_ENST00000380920.4_Missense_Mutation_p.D78E|ASGR1_ENST00000572879.1_Missense_Mutation_p.D39E			P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	179					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GGCAGTAGTTGTCGGCGTCAG	0.677000													42	60					4.44401e-20	1.81081e-19	0.0025221	1	0
TTN	7273	broad.mit.edu	37	2	179456614	179456614	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:179456614G>C	ENST00000589042.1	-	303	60156	c.59932C>G	c.(59932-59934)Cca>Gca	p.P19978A	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P11038A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17410A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P11105A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10913A|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18337A|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18337	Fibronectin type-III 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGCCCTGGGGGATCTTTT	0.428000													3	65					0	0	6.4e-05	0	0
HDAC8	55869	broad.mit.edu	37	X	71681889	71681889	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:71681889C>G	ENST00000373573.3	-	9	1311	c.970G>C	c.(970-972)Ggg>Cgg	p.G324R	HDAC8_ENST00000373589.4_Missense_Mutation_p.G233R|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000429103.2_Missense_Mutation_p.G129R	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	324	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	AGTGTTTTCCCTAGGATGACC	0.463000													18	101					0	0	0.00074312	0	0
DYRK1A	1859	broad.mit.edu	37	21	38878577	38878577	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr21:38878577G>C	ENST00000338785.3	+	12	1951	c.1722G>C	c.(1720-1722)tgG>tgC	p.W574C	DYRK1A_ENST00000339659.3_Intron|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E518Q|DYRK1A_ENST00000398956.2_Intron|DYRK1A_ENST00000451934.1_Missense_Mutation_p.W574C|DYRK1A_ENST00000398960.2_Intron|DYRK1A_ENST00000455387.2_Intron	NM_101395.2	NP_567824.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	568					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTCTCAGGTGGAGCAGCACTG	0.502000													4	19					0	0	0.00024832	0	0
GBP7	388646	broad.mit.edu	37	1	89616203	89616203	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:89616203G>T	ENST00000294671.2	-	6	819	c.681C>A	c.(679-681)ttC>ttA	p.F227L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	227						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GTTTTGGAAAGAAATGCCTGA	0.393000													37	50					8.73648e-17	3.53952e-16	0.00428921	1	0
KCTD8	386617	broad.mit.edu	37	4	44177085	44177085	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:44177085G>A	ENST00000360029.3	-	2	1427	c.1144C>T	c.(1144-1146)Cac>Tac	p.H382Y		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	382						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGGTTGGTGAGCTGTTGCC	0.507000										HNSCC(17;0.042)			22	140					0	0	0.00188189	0	0
ZFP2	80108	broad.mit.edu	37	5	178358852	178358852	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr5:178358852C>A	ENST00000361362.2	+	5	1068	c.538C>A	c.(538-540)Cac>Aac	p.H180N	ZFP2_ENST00000523286.1_Missense_Mutation_p.H180N|ZFP2_ENST00000520301.1_Missense_Mutation_p.H180N|ZFP2_ENST00000503510.2_Missense_Mutation_p.H180N	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCAACGAACTCACACCGGAGA	0.398000													8	37					1.12685e-05	4.11823e-05	0.000274275	1	0
EVA1C	59271	broad.mit.edu	37	21	33876236	33876236	+	Splice_Site	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr21:33876236G>A	ENST00000300255.2	+	7	1333	c.859_splice	c.e7-1	p.G287_splice	EVA1C_ENST00000382699.3_Splice_Site_p.G284_splice|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Splice_Site_p.G239_splice	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		CATGAAACAGGTATAAACTTC	0.458000													38	92					0	0	0.00128727	0	0
ZNF264	9422	broad.mit.edu	37	19	57705330	57705330	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:57705330G>C	ENST00000263095.6	+	2	535	c.121G>C	c.(121-123)Gag>Cag	p.E41Q	ZNF264_ENST00000600531.1_Missense_Mutation_p.E41Q|ZNF264_ENST00000536056.1_Missense_Mutation_p.E41Q|ZNF264_ENST00000599653.1_Missense_Mutation_p.E41Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCTGTACCAGGAGGTGATGCT	0.557000													23	107					0	0	0.00229938	0	0
XIST	7503	broad.mit.edu	37	X	73071873	73071873	+	RNA	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:73071873C>T	ENST00000429829.1	-	0	715					NR_001564.2																						CAGGTATCCGCGGCCCCGATG	0.428000													9	24					0	0	0.000274275	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35919264	35919264	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:35919264C>G	ENST00000325722.3	-	12	2041	c.1807G>C	c.(1807-1809)Gca>Cca	p.A603P	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.A40P	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	603	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTGGGCCTGCATCTGCCTGA	0.478000													8	39					0	0	0.000274275	0	0
SLIT2	9353	broad.mit.edu	37	4	20541203	20541203	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:20541203A>G	ENST00000504154.1	+	19	2224	c.1972A>G	c.(1972-1974)Act>Gct	p.T658A	SLIT2_ENST00000503837.1_Missense_Mutation_p.T654A|SLIT2_ENST00000273739.5_Missense_Mutation_p.T662A|SLIT2_ENST00000503823.1_Missense_Mutation_p.T650A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	658					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCTTTATCTACTCTGTAAGT	0.299000													9	33					0	0	0.000442599	0	0
CEP112	201134	broad.mit.edu	37	17	63847958	63847958	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:63847958C>G	ENST00000392769.2	-	21	2576	c.2358G>C	c.(2356-2358)aaG>aaC	p.K786N	CEP112_ENST00000535342.2_Missense_Mutation_p.K786N|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000537949.1_Missense_Mutation_p.K744N|CEP112_ENST00000541355.1_Missense_Mutation_p.K421N	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	786						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CAGCATGAGTCTTTTTCAGCT	0.373000													24	150					0	0	0.00106085	0	0
OMP	4975	broad.mit.edu	37	11	76813990	76813990	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:76813990C>T	ENST00000529803.1	+	1	105	c.105C>T	c.(103-105)cgC>cgT	p.R35R	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	35					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGAAGCAGCGCGGGGAGAAGC	0.672000													17	27					0	0	0.000958276	0	0
SEMA6B	10501	broad.mit.edu	37	19	4552583	4552583	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:4552583C>T	ENST00000586582.1	-	10	1150	c.840G>A	c.(838-840)aaG>aaA	p.K280K	SEMA6B_ENST00000301293.3_Silent_p.K280K|SEMA6B_ENST00000586965.1_Silent_p.K280K	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	280	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCACTGCTTCTCCAGCA	0.657000													10	12					0	0	0.000673444	0	0
LAMA2	3908	broad.mit.edu	37	6	129470160	129470160	+	Missense_Mutation	SNP	G	G	A	rs141340479	byFrequency	TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr6:129470160G>A	ENST00000421865.2	+	7	995	c.946G>A	c.(946-948)Gat>Aat	p.D316N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	316	Laminin EGF-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.D316Y(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACATGTGGCGATAGCTGTGA	0.428000													16	91					0	0	0.00400662	0	0
CSDC2	27254	broad.mit.edu	37	22	41969737	41969737	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr22:41969737C>T	ENST00000306149.7	+	3	799	c.255C>T	c.(253-255)atC>atT	p.I85I		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	85	CSD.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding			prostate(2)|upper_aerodigestive_tract(1)	3						ATGGCTTCATCACCCCCGAGA	0.607000													11	84					0	0	0.000978159	0	0
ABHD5	51099	broad.mit.edu	37	3	43753250	43753250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:43753250G>C	ENST00000458276.2	+	4	679	c.556G>C	c.(556-558)Gac>Cac	p.D186H		NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	186					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TGAACGACCAGACCTTGCTGA	0.453000													11	54					0	0	0.000673444	0	0
HIP1	3092	broad.mit.edu	37	7	75172176	75172176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:75172176C>A	ENST00000336926.6	-	28	2910	c.2884G>T	c.(2884-2886)Gag>Tag	p.E962*	HIP1_ENST00000434438.2_Nonsense_Mutation_p.E911*	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	962	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTACCTGTCTCTTCGATCTGT	0.572000			T	PDGFRB	CMML								13	49					7.03913e-09	2.65465e-08	0.00136819	1	0
ZNF160	90338	broad.mit.edu	37	19	53578326	53578326	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:53578326C>G	ENST00000601421.1	-	1	894	c.18G>C	c.(16-18)tgG>tgC	p.W6C	ZNF160_ENST00000429604.1_Missense_Mutation_p.W42C|ZNF160_ENST00000599056.1_Missense_Mutation_p.W42C|ZNF160_ENST00000418871.1_Missense_Mutation_p.W42C|ZNF160_ENST00000355147.5_Missense_Mutation_p.W42C			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	42					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AAACAAGGTTCCAGTAGTTCT	0.483000													3	102					0	0	6.4e-05	0	0
U2AF1	7307	broad.mit.edu	37	21	44521518	44521518	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr21:44521518G>A	ENST00000380276.2	-	3	227	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C	U2AF1_ENST00000291552.4_Intron|U2AF1_ENST00000459639.1_Intron|U2AF1_ENST00000398137.1_5'UTR|U2AF1_ENST00000486519.1_Intron	NM_001025203.1	NP_001020374.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	53					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						TGGGGATTACGATAGATGTTT	0.398000			Mis		"""CLL, MDS"""								79	314					0	0	0.00361006	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964812	7964812	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:7964812C>T	ENST00000539278.1	-	1	3615	c.455G>A	c.(454-456)tGg>tAg	p.W152*	LRRC8E_ENST00000306708.6_Missense_Mutation_p.H469Y																							CAGCTTGCTCCACTCGCCCGC	0.632000													9	22					0	0	0.000274275	0	0
TRHDE	29953	broad.mit.edu	37	12	72680609	72680609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr12:72680609G>A	ENST00000261180.4	+	2	1024	c.928G>A	c.(928-930)Gtg>Atg	p.V310M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	310					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGAAACTTCCGTGTTTGAGGA	0.403000													56	85					0	0	0.00361006	0	0
AURKB	9212	broad.mit.edu	37	17	8108663	8108663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:8108663C>T	ENST00000316199.6	-	8	812	c.735G>A	c.(733-735)atG>atA	p.M245I	AURKB_ENST00000585124.1_Missense_Mutation_p.M244I|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.M203I|AURKB_ENST00000578549.1_Missense_Mutation_p.M212I			Q96GD4	AURKB_HUMAN	aurora kinase B	244	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						GCCCCTCAATCATCTCTGGGG	0.562000													14	64					0	0	0.00316338	0	0
MED12	9968	broad.mit.edu	37	X	70347742	70347742	+	Splice_Site	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:70347742G>T	ENST00000333646.6	+	22	3180		c.e22-1		MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000374080.3_Splice_Site	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCCCTGCAGCGACTTTTGC	0.493000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						11	24					2.80697e-09	1.06425e-08	0.000978159	1	0
NID2	22795	broad.mit.edu	37	14	52481133	52481133	+	Silent	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:52481133G>T	ENST00000216286.5	-	16	3291	c.3292C>A	c.(3292-3294)Cgg>Agg	p.R1098R	NID2_ENST00000541773.1_Silent_p.R997R	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1098						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACATCTGGCCGGGGCGTGGGC	0.617000											OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	30					2.37509e-13	9.30354e-13	0.00152264	1	0
PTPN7	5778	broad.mit.edu	37	1	202121757	202121757	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:202121757G>A	ENST00000309017.3	-	8	1876	c.1103C>T	c.(1102-1104)tCa>tTa	p.S368L	PTPN7_ENST00000544762.1_Missense_Mutation_p.S39L|PTPN7_ENST00000543735.1_Missense_Mutation_p.S92L|PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000367279.4_Missense_Mutation_p.S302L|PTPN7_ENST00000308986.5_Missense_Mutation_p.S263L	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	263						cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GGGCCCAGCTGATTCTGGTGT	0.622000													23	45					0	0	0.00229938	0	0
LRPPRC	10128	broad.mit.edu	37	2	44209427	44209427	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:44209427C>T	ENST00000260665.7	-	2	353	c.296G>A	c.(295-297)cGc>cAc	p.R99H	LRPPRC_ENST00000409659.1_Missense_Mutation_p.R99H|LRPPRC_ENST00000409946.1_Missense_Mutation_p.R99H	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	99					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTTGGAATGCGGCCAGTTCT	0.383000													9	44					0	0	0.000442599	0	0
ADAM29	11086	broad.mit.edu	37	4	175897744	175897744	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:175897744G>A	ENST00000359240.3	+	5	1738	c.1068G>A	c.(1066-1068)atG>atA	p.M356I	ADAM29_ENST00000404450.4_Missense_Mutation_p.M356I|ADAM29_ENST00000514159.1_Missense_Mutation_p.M356I|ADAM29_ENST00000445694.1_Missense_Mutation_p.M356I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	356	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATGCATAATGCATGAAGGCA	0.388000													19	107					0	0	0.00074312	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35919263	35919263	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:35919263G>C	ENST00000325722.3	-	12	2042	c.1808C>G	c.(1807-1809)gCa>gGa	p.A603G	KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Missense_Mutation_p.A40G	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	603	PKD 4.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATCTGGGCCTGCATCTGCCTG	0.473000													8	39					0	0	0.000274275	0	0
GOSR1	9527	broad.mit.edu	37	17	28811740	28811740	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:28811740G>C	ENST00000225724.5	+	4	372	c.300G>C	c.(298-300)ttG>ttC	p.L100F	GOSR1_ENST00000581721.1_Missense_Mutation_p.L100F|GOSR1_ENST00000451249.2_Missense_Mutation_p.L98F|GOSR1_ENST00000467337.2_Missense_Mutation_p.L35F	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	100					intra-Golgi vesicle-mediated transport|protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|SNARE complex	SNAP receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						TCCCCTCCTTGAATGCAGCCC	0.363000													7	44					0	0	0.000274275	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36927374	36927374	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr17:36927374T>A	ENST00000269554.3	-	8	1439	c.959A>T	c.(958-960)tAt>tTt	p.Y320F		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	320	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGGTGTGCCATAGGAGCAGAG	0.597000													19	47					0	0	0.00074312	0	0
TRGC1	6966	broad.mit.edu	37	7	38305106	38305106	+	RNA	SNP	C	C	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:38305106C>A	ENST00000443402.2	-	0	173					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					GTGTTCCCCTCCTGGGATCCC	0.418000													41	143					2.47872e-24	1.01585e-23	0.0025221	1	0
SLC4A2	6522	broad.mit.edu	37	7	150772740	150772740	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:150772740G>T	ENST00000485713.1	+	21	4389	c.3349G>T	c.(3349-3351)Gtg>Ttg	p.V1117L	SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1108L|SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1035L|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1117L|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1103L	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1117	Membrane (anion exchange).				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)		CCCCCTGGCCGTGCTCTTTGG	0.607000													9	56					5.68852e-11	2.18009e-10	0.000274275	1	0
ABLIM2	84448	broad.mit.edu	37	4	8021358	8021358	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr4:8021358G>C	ENST00000318888.4	-	13	1384	c.513C>G	c.(511-513)atC>atG	p.I171M	ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000361581.5_Missense_Mutation_p.I437M|ABLIM2_ENST00000514025.1_Missense_Mutation_p.I171M|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.I437M|ABLIM2_ENST00000447017.2_Missense_Mutation_p.I470M|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000296372.8_Missense_Mutation_p.I437M|ABLIM2_ENST00000341937.5_Missense_Mutation_p.I437M|ABLIM2_ENST00000407564.3_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	437	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GCTGTCTGTAGATAGGGGGTT	0.473000													13	55					0	0	0.00316338	0	0
SLC26A3	1811	broad.mit.edu	37	7	107408304	107408304	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr7:107408304C>T	ENST00000340010.5	-	19	2296	c.2112G>A	c.(2110-2112)gtG>gtA	p.V704V	SLC26A3_ENST00000422236.2_Silent_p.V591V	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	704	STAS.				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						TTGAGCTTTTCACTTCACCAT	0.328000													11	29					0	0	0.000673444	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396789	43396789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:43396789G>A	ENST00000426263.3	-	3	381	c.203C>T	c.(202-204)tCa>tTa	p.S68L	SLC2A1_ENST00000415851.2_Missense_Mutation_p.S68L|SLC2A1_ENST00000475162.1_5'UTR|SLC2A1_ENST00000372500.3_Missense_Mutation_p.S68L	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	68					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GATGGCCACTGAGAGGGACCA	0.592000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	55					0	0	0.000673444	0	0
FBXO31	79791	broad.mit.edu	37	16	87365041	87365041	+	Silent	SNP	G	G	A	rs141426651		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr16:87365041G>A	ENST00000311635.7	-	9	1485	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	RP11-178L8.4_ENST00000568879.1_Intron	NM_024735.3	NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	491					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGTCCTCATCGAAGAGGATGA	0.612000													11	24					0	0	0.000978159	0	0
FCGBP	8857	broad.mit.edu	37	19	40408042	40408042	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:40408042T>A	ENST00000221347.6	-	9	4686	c.4679A>T	c.(4678-4680)gAt>gTt	p.D1560V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1560	Cys-rich.|TIL 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGCACACCCATCCTGGCACTG	0.617000													12	40					0	0	0.00136819	0	0
ARIH1	25820	broad.mit.edu	37	15	72873104	72873104	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:72873104C>G	ENST00000379887.4	+	12	1562	c.1248C>G	c.(1246-1248)ttC>ttG	p.F416L	ARIH1_ENST00000562891.1_3'UTR	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	416					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						GGTACCTGTTCTACTGTAATC	0.418000													7	43					0	0	0.00198382	0	0
OTUB2	78990	broad.mit.edu	37	14	94511065	94511065	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:94511065G>A	ENST00000203664.5	+	5	646	c.437G>A	c.(436-438)cGa>cAa	p.R146Q		NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	146	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		ATCAGGAACCGAGCAGACTTC	0.587000													19	25					0	0	0.00074312	0	0
DAAM1	23002	broad.mit.edu	37	14	59791160	59791160	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr14:59791160C>G	ENST00000395125.1	+	7	1000	c.977C>G	c.(976-978)tCa>tGa	p.S326*	DAAM1_ENST00000360909.3_Nonsense_Mutation_p.S326*|DAAM1_ENST00000351081.1_Nonsense_Mutation_p.S326*	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	326	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CACGAAAATTCAACATTAGAT	0.363000													3	49					0	0	0.00024832	0	0
TSIX	9383	broad.mit.edu	37	X	73044042	73044042	+	RNA	SNP	G	G	C			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:73044042G>C	ENST00000604411.1	+	0	32003				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						gcctagcaatgagattggcac	0.338000													3	5					0	0	6.4e-05	0	0
RASGRP2	10235	broad.mit.edu	37	11	64508539	64508539	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr11:64508539G>A	ENST00000394429.1	-	3	251	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	RASGRP2_ENST00000394430.1_Silent_p.S84S|RASGRP2_ENST00000377494.1_Silent_p.S84S|RASGRP2_ENST00000377489.1_Silent_p.S84S|RASGRP2_ENST00000377487.1_Silent_p.S84S|RASGRP2_ENST00000377486.3_Silent_p.S84S|RASGRP2_ENST00000377497.3_Silent_p.S84S|RASGRP2_ENST00000394428.1_Missense_Mutation_p.R58C|RASGRP2_ENST00000354024.3_Silent_p.S84S|RASGRP2_ENST00000394432.3_Silent_p.S84S			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	0	N-terminal Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGAAGGCGGAGATCCAGT	0.572000											OREG0004006	type=REGULATORY REGION|Gene=RASGRP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	24					0	0	0.00307968	0	0
CD99L2	83692	broad.mit.edu	37	X	149963727	149963727	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:149963727G>A	ENST00000370377.3	-	6	499	c.382C>T	c.(382-384)Cga>Tga	p.R128*	CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000355149.3_Nonsense_Mutation_p.R56*|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Nonsense_Mutation_p.R79*	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	128				R -> Q (in Ref. 4; BAG54124).	cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CGATCATTTCGATCATCCAGG	0.448000													32	205					0	0	0.00375469	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257054	114257054	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:114257054T>A	ENST00000306507.5	+	1	394	c.221T>A	c.(220-222)aTc>aAc	p.I74N		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	74					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	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			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						CGAGAGCACATCGAGGGCGGC	0.701000													19	41					0	0	0.000958276	0	0
ZNF101	94039	broad.mit.edu	37	19	19790800	19790800	+	Silent	SNP	A	A	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr19:19790800A>T	ENST00000592502.1	+	4	1112	c.1002A>T	c.(1000-1002)ggA>ggT	p.G334G	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.G214G			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CTCACACTGGAGAAAGACCTT	0.368000													6	31					0	0	0.00198382	0	0
ABTB1	80325	broad.mit.edu	37	3	127395886	127395886	+	Silent	SNP	C	C	T			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr3:127395886C>T	ENST00000468137.1	+	6	793	c.177C>T	c.(175-177)ctC>ctT	p.L59L	ABTB1_ENST00000393363.3_Silent_p.L59L|ABTB1_ENST00000453791.2_Silent_p.L59L|ABTB1_ENST00000232744.8_Silent_p.L201L			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	201						cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GGGACCTGCTCAGCGACCTGG	0.667000													12	43					0	0	0.00136819	0	0
SYDE2	84144	broad.mit.edu	37	1	85656306	85656307	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr1:85656306_85656307insA	ENST00000341460.5	-	2	923_924	c.874_875insT	c.(874-876)tcafs	p.S292fs		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	292					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AGTACTCTGATATAGCCAATTG	0.381													58	127	---	---	---	---					
TANC1	85461	broad.mit.edu	37	2	160085398	160085399	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr2:160085398_160085399insA	ENST00000263635.6	+	26	4379_4380	c.4142_4143insA	c.(4141-4143)aaafs	p.K1381fs	TANC1_ENST00000454300.1_Frame_Shift_Ins_p.K1275fs	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1381						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGAGCGAAGAGAAATAGCAGGT	0.470													40	96	---	---	---	---					
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595		TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gag>g	p.EGQGQGQGQ178del	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	178					Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777													3	5	---	---	---	---					
MAGEA3	4102	broad.mit.edu	37	X	151935346	151935346	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7102-01A-11D-2012-08	TCGA-CV-7102-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda5514f-3aa1-447c-ad07-55ec307c26e3	ef91ddf9-e769-44cd-9991-37dae71bc012	g.chrX:151935346delC	ENST00000393902.3	-	3	1388	c.821delG	c.(820-822)gtfs	p.G274fs	MAGEA3_ENST00000370278.3_Frame_Shift_Del_p.G274fs			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	274	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTTGGACCCCACAGGAA	0.532													36	253	---	---	---	---					
