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
EP400	57634	broad.mit.edu	37	12	132547120	132547120	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547120G>A	ENST00000333577.4	+	48	8425	c.8316G>A	c.(8314-8316)caG>caA	p.Q2772Q	EP400_ENST00000389561.2_Silent_p.Q2736Q|EP400_ENST00000330386.6_Silent_p.Q2655Q|EP400_ENST00000332482.4_Silent_p.Q2699Q|EP400_ENST00000389562.2_Silent_p.Q2735Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2772	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.592000													11	65					0	0	0.008291	0	0
RB1CC1	9821	broad.mit.edu	37	8	53568671	53568671	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:53568671C>T	ENST00000025008.5	-	15	4241	c.3718G>A	c.(3718-3720)Gaa>Aaa	p.E1240K	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E1240K|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E1240K	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1240					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGAATAGCTTCATCTTTTTCA	0.343000													80	104					0	0	0.003610	0	0
CCDC24	149473	broad.mit.edu	37	1	44461475	44461475	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:44461475G>A	ENST00000372318.3	+	8	819	c.648G>A	c.(646-648)atG>atA	p.M216I	SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000479055.1_3'UTR|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	216										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGAAGGCCATGGAGCAGGAGC	0.557000													45	153					0	0	0.003610	0	0
CIRBP	1153	broad.mit.edu	37	19	1270999	1270999	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:1270999G>A	ENST00000444172.2	+	2	149	c.15G>A	c.(13-15)tgG>tgA	p.W5*	CIRBP_ENST00000586773.1_Missense_Mutation_p.E23K|CIRBP_ENST00000320936.5_Missense_Mutation_p.E23K|CIRBP_ENST00000588090.1_Missense_Mutation_p.E23K|CIRBP_ENST00000588230.1_Missense_Mutation_p.E23K|CIRBP_ENST00000589235.1_Missense_Mutation_p.E23K|CIRBP_ENST00000587323.1_Missense_Mutation_p.E23K|CIRBP_ENST00000589660.1_Missense_Mutation_p.E23K|CIRBP_ENST00000413636.2_Missense_Mutation_p.E23K|CIRBP_ENST00000589710.1_Missense_Mutation_p.E23K|CIRBP_ENST00000586472.1_Missense_Mutation_p.E23K|CIRBP_ENST00000588030.1_Missense_Mutation_p.E23K|CIRBP_ENST00000591935.1_Missense_Mutation_p.E23K|CIRBP_ENST00000587896.1_Missense_Mutation_p.E23K|CIRBP_ENST00000589686.1_Missense_Mutation_p.E23K|CIRBP_ENST00000585630.1_Missense_Mutation_p.E23K			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	0					mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGTCGCTGGAGCAGGTCTT	0.567000													72	180					0	0	0.003610	0	0
AMBN	258	broad.mit.edu	37	4	71459051	71459051	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:71459051T>C	ENST00000322937.6	+	2	126	c.23T>C	c.(22-24)cTt>cCt	p.L8P	AMBN_ENST00000449493.2_Missense_Mutation_p.L8P	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	8					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TAGATTCCACTTTTCAAAATG	0.353000													12	83					0	0	0.001855	0	0
C3orf67	200844	broad.mit.edu	37	3	58856020	58856020	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:58856020C>T	ENST00000472469.1	-	7	954	c.116G>A	c.(115-117)aGa>aAa	p.R39K	C3orf67_ENST00000295966.7_Missense_Mutation_p.R119K|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.R119K			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	119										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACTTGTTCCTCTGTTAATGAA	0.378000													20	25					0	0	0.008871	0	0
LMBRD1	55788	broad.mit.edu	37	6	70386122	70386122	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:70386122C>T	ENST00000370577.3	-	16	1780	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K	LMBRD1_ENST00000370570.1_Silent_p.K444K	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	517					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TAACCGATTTCTTCCCTTTAC	0.313000													11	31					0	0	0.001855	0	0
JAG1	182	broad.mit.edu	37	20	10639244	10639244	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:10639244T>A	ENST00000254958.5	-	4	1081	c.566A>T	c.(565-567)gAc>gTc	p.D189V	JAG1_ENST00000423891.2_Missense_Mutation_p.D30V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	189	DSL.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATAGTAGTAGTCATCACAGGT	0.527000									Alagille Syndrome				37	95					0	0	0.005524	0	0
TTBK1	84630	broad.mit.edu	37	6	43237400	43237400	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:43237400C>T	ENST00000304139.5	+	13	2015	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	TTBK1_ENST00000259750.4_Intron			Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	671						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GACAGACTCTCGGGGCACTCC	0.647000													33	20					0	0	0.006999	0	0
AKAP8	10270	broad.mit.edu	37	19	15466028	15466028	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:15466028C>T	ENST00000269701.2	-	14	1837	c.1777G>A	c.(1777-1779)Gga>Aga	p.G593R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	593					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCGGGCGCTCCTTCCCCATCT	0.617000													39	92					0	0	0.008740	0	0
EXOC7	23265	broad.mit.edu	37	17	74085384	74085384	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74085384C>A	ENST00000607838.1	-	9	1082	c.988G>T	c.(988-990)Gac>Tac	p.D330Y	EXOC7_ENST00000332065.5_Missense_Mutation_p.D276Y|EXOC7_ENST00000405575.4_Missense_Mutation_p.D330Y|EXOC7_ENST00000467929.2_Missense_Mutation_p.D266Y|EXOC7_ENST00000589210.1_Missense_Mutation_p.D307Y|EXOC7_ENST00000411744.2_Missense_Mutation_p.D299Y|EXOC7_ENST00000335146.7_Missense_Mutation_p.D358Y	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	358					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTCTCCACGTCCAGCATGTCA	0.647000													20	32					4.96729e-08	6.34755e-08	0.008871	1	0
QRFPR	84109	broad.mit.edu	37	4	122250851	122250851	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:122250851T>A	ENST00000394427.2	-	6	1325	c.914A>T	c.(913-915)tAt>tTt	p.Y305F	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	305						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GACATCATCATATTCCTTTTC	0.289000													8	10					0	0	0.003080	0	0
SMARCA4	6597	broad.mit.edu	37	19	11094925	11094925	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:11094925G>A	ENST00000358026.2	+	2	382	c.98G>A	c.(97-99)gGt>gAt	p.G33D	SMARCA4_ENST00000344626.4_Missense_Mutation_p.G33D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G33D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G33D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G33D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G33D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G33D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G33D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G33D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	33	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTAGCCCGGGTCCCTCGCCG	0.726000			"""F, N, Mis"""		NSCLC								10	46					0	0	0.006214	0	0
ELMO1	9844	broad.mit.edu	37	7	37272761	37272761	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:37272761A>T	ENST00000310758.4	-	8	1135	c.488T>A	c.(487-489)gTt>gAt	p.V163D	ELMO1_ENST00000448602.1_Missense_Mutation_p.V163D|ELMO1_ENST00000442504.1_Missense_Mutation_p.V163D	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	163					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CATCAGCTCAACGAAGGCCGT	0.498000													22	46					0	0	0.003330	0	0
PDS5A	23244	broad.mit.edu	37	4	39850583	39850583	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:39850583T>C	ENST00000303538.8	-	28	3766	c.3227A>G	c.(3226-3228)tAt>tGt	p.Y1076C		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	1076					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACATACTGTATACAGTTTCTA	0.313000													6	25					0	0	0.001168	0	0
OR2G3	81469	broad.mit.edu	37	1	247769738	247769738	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:247769738C>T	ENST00000320002.2	+	1	883	c.851C>T	c.(850-852)aCt>aTt	p.T284I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGACCCCCACTTTAAATCCT	0.433000													26	98					0	0	0.005443	0	0
PCNT	5116	broad.mit.edu	37	21	47769713	47769713	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:47769713C>T	ENST00000359568.5	+	8	1430	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	441	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCAAAGAGAGCGAGAAAGAAA	0.433000													41	66					0	0	0.007835	0	0
USP48	84196	broad.mit.edu	37	1	22074634	22074634	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22074634T>A	ENST00000308271.9	-	7	1553	c.905A>T	c.(904-906)gAc>gTc	p.D302V	USP48_ENST00000400301.1_Missense_Mutation_p.D302V|USP48_ENST00000421625.2_Missense_Mutation_p.D302V|USP48_ENST00000529637.1_Missense_Mutation_p.D302V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	302					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CATTTACCTGTCAAAGACAAA	0.363000													20	40					0	0	0.008871	0	0
PHF6	84295	broad.mit.edu	37	X	133511786	133511786	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:133511786G>A	ENST00000332070.3	+	2	340		c.e2+1		PHF6_ENST00000370799.1_Splice_Site|PHF6_ENST00000370803.3_Splice_Site|PHF6_ENST00000370800.4_Splice_Site|PHF6_ENST00000416404.2_Splice_Site|PHF6_ENST00000394292.1_Splice_Site	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAAGTGCATGGTAAGTATACC	0.378000			"""F, N, Splice, Mis"""		ETP ALL								36	30					0	0	0.004878	0	0
FRAS1	80144	broad.mit.edu	37	4	79367924	79367924	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:79367924G>A	ENST00000264895.6	+	43	6340	c.5900G>A	c.(5899-5901)aGa>aAa	p.R1967K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1966					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCCCTCAGAGTGCAGCTG	0.433000													13	25					0	0	0.001855	0	0
TBC1D20	128637	broad.mit.edu	37	20	419827	419827	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:419827C>T	ENST00000354200.4	-	7	1028	c.881G>A	c.(880-882)aGa>aAa	p.R294K	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	294					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GTCTCCTGCTCTGCTGATCAG	0.582000													12	43					0	0	0.000978	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857968	9857968	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:9857968C>T	ENST00000396573.2	-	14	3742	c.3433G>A	c.(3433-3435)Gtg>Atg	p.V1145M	GRIN2A_ENST00000330684.3_Missense_Mutation_p.V1145M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V1145M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V1145M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V1145M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V988M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1145					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGAAGTCCACGTTCTCGGGC	0.537000													48	168					0	0	0.003610	0	0
MAPK4	5596	broad.mit.edu	37	18	48190843	48190843	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:48190843C>T	ENST00000400384.2	+	2	1551	c.515C>T	c.(514-516)gCa>gTa	p.A172V	MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.A172V|MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000592595.1_Missense_Mutation_p.A172V	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	172	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTCGGGTTGGCAAGGATCGTT	0.532000													24	86					0	0	0.002780	0	0
SLC46A1	113235	broad.mit.edu	37	17	26732963	26732963	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:26732963T>G	ENST00000440501.1	-	1	265	c.170A>C	c.(169-171)tAc>tCc	p.Y57S	CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Missense_Mutation_p.Y57S|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	57					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GGTGCCATTGTAGCCGAGGTC	0.692000													3	17					0	0	0.000248	0	0
DHDDS	79947	broad.mit.edu	37	1	26786621	26786621	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:26786621C>G	ENST00000360009.2	+	8	828	c.751C>G	c.(751-753)Cat>Gat	p.H251D	DHDDS_ENST00000526219.1_Missense_Mutation_p.H212D|DHDDS_ENST00000525682.2_Missense_Mutation_p.H217D|DHDDS_ENST00000236342.7_Missense_Mutation_p.H251D	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	251							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCAGATGAACCATAGCGTGCT	0.493000													42	134					0	0	0.002222	0	0
ANKS1B	56899	broad.mit.edu	37	12	100377915	100377915	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:100377915C>T	ENST00000547776.2	-	1	100	c.101G>A	c.(100-102)gGa>gAa	p.G34E	ANKS1B_ENST00000547010.1_5'UTR|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G34E	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	34						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGGTCCGGATCCACCGCCCAG	0.582000													23	78					0	0	0.003330	0	0
SNPH	9751	broad.mit.edu	37	20	1286301	1286301	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:1286301C>G	ENST00000381867.1	+	7	1862	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*	SNPH_ENST00000381873.3_Nonsense_Mutation_p.S363*			O15079	SNPH_HUMAN	syntaphilin	363	Poly-Glu.				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACCCCAACTCAGCAGTGGTG	0.657000													20	71					0	0	0.007413	0	0
DNAH8	1769	broad.mit.edu	37	6	38942237	38942237	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:38942237G>C	ENST00000359357.3	+	83	12369	c.12115G>C	c.(12115-12117)Gac>Cac	p.D4039H	DNAH8_ENST00000441566.1_Missense_Mutation_p.D4003H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGACCTTCTGGACATCAGTAA	0.423000													32	78					0	0	0.002445	0	0
DIAPH3	81624	broad.mit.edu	37	13	60240843	60240843	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:60240843C>T	ENST00000400324.4	-	28	3677	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K	DIAPH3_ENST00000400319.1_Missense_Mutation_p.E1083K|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E1153K|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E1142K|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E1107K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1153					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCCTTCTTCTCAGCTGCCTTG	0.413000													37	89					0	0	0.002222	0	0
SRGAP2	23380	broad.mit.edu	37	1	206628307	206628307	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:206628307G>T	ENST00000414007.1	+	17	2024	c.2024G>T	c.(2023-2025)aGa>aTa	p.R675I	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.R120I			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	815	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTGACAGCCAGAGCGGGGGCC	0.537000													38	91					1.58521e-26	2.18179e-26	0.005524	1	0
PIK3AP1	118788	broad.mit.edu	37	10	98380234	98380234	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:98380234G>A	ENST00000339364.5	-	12	1935	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R205W|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R428W	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	606						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ATAAGCTGCCGCTGGCCTGGC	0.562000													54	77					0	0	0.003610	0	0
DHX9	1660	broad.mit.edu	37	1	182845362	182845362	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:182845362A>G	ENST00000367549.3	+	17	2103	c.1993A>G	c.(1993-1995)Act>Gct	p.T665A		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	665	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TCTGATTTATACTATGCAGAA	0.373000													43	126					0	0	0.002522	0	0
HOXA11	3207	broad.mit.edu	37	7	27222475	27222475	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:27222475C>T	ENST00000006015.3	-	2	953	c.882G>A	c.(880-882)atG>atA	p.M294I		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	294					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTTTTTCCTTCATTCTCCTGT	0.458000			T	NUP98	CML								32	90					0	0	0.002836	0	0
ALG1	56052	broad.mit.edu	37	16	5123184	5123184	+	Translation_Start_Site	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:5123184A>T	ENST00000588623.1	+	0	1084				ALG1_ENST00000262374.5_Missense_Mutation_p.K106I|ALG1_ENST00000544428.1_De_novo_Start_OutOfFrame			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TACGGAGTCAAAGTTGTACTT	0.507000													16	72					0	0	0.004990	0	0
GPNMB	10457	broad.mit.edu	37	7	23313138	23313138	+	Splice_Site	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23313138A>G	ENST00000258733.4	+	10	1724		c.e10-1		GPNMB_ENST00000453162.2_Splice_Site|GPNMB_ENST00000539136.1_Splice_Site|GPNMB_ENST00000381990.2_Splice_Site|GPNMB_ENST00000478451.1_Splice_Site			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb						negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TTCTGTTTTAAGACCCAGCCT	0.463000											OREG0017893	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	86					0	0	0.002222	0	0
KIF6	221458	broad.mit.edu	37	6	39507798	39507798	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:39507798A>T	ENST00000287152.7	-	13	1720	c.1626T>A	c.(1624-1626)agT>agA	p.S542R	KIF6_ENST00000373213.4_Missense_Mutation_p.S381R|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Missense_Mutation_p.S542R|KIF6_ENST00000373216.3_Missense_Mutation_p.S542R	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	542					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTGGAGCAAACTGGATCTTT	0.443000													123	117					0	0	0.003610	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242459	18242459	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:18242459G>A	ENST00000377369.2	+	2	527	c.254G>A	c.(253-255)tGc>tAc	p.C85Y	SLC39A12_ENST00000377374.4_Missense_Mutation_p.C85Y|SLC39A12_ENST00000377371.3_Missense_Mutation_p.C85Y|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	85					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAAGGAGATTGCAATCTGGTT	0.453000													29	63					0	0	0.006320	0	0
GRIK4	2900	broad.mit.edu	37	11	120690613	120690613	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:120690613C>T	ENST00000527524.2	+	6	782	c.495C>T	c.(493-495)atC>atT	p.I165I	GRIK4_ENST00000438375.2_Silent_p.I165I	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	165					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCTGCCTCATCTGTGCCAAAG	0.557000													88	150					0	0	0.003610	0	0
OR2A4	79541	broad.mit.edu	37	6	132021851	132021851	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:132021851C>T	ENST00000315453.2	-	1	784	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		CTCTGAACTTCCCTTGATTGG	0.493000													35	82					0	0	0.002522	0	0
HOOK1	51361	broad.mit.edu	37	1	60309252	60309252	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:60309252T>C	ENST00000371208.3	+	9	1027	c.770T>C	c.(769-771)tTa>tCa	p.L257S	HOOK1_ENST00000395561.2_Missense_Mutation_p.L215S|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	257	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CTAGAACAATTACAGGAAGAA	0.323000													15	45					0	0	0.002450	0	0
IFI27L1	122509	broad.mit.edu	37	14	94563251	94563251	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:94563251G>A	ENST00000553664.1	+	3	160	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	IFI27L1_ENST00000555523.1_5'UTR|IFI27L1_ENST00000557066.1_5'UTR|IFI27L1_ENST00000393115.3_5'UTR|IFI27L1_ENST00000553350.1_3'UTR|IFI27L1_ENST00000557218.1_5'UTR|IFI27L1_ENST00000556381.1_5'UTR|IFI27L1_ENST00000554544.1_5'UTR			Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	0						integral to membrane				lung(2)	2						CCAAGAATCCGAGTGGAGGCT	0.517000													10	21					0	0	0.001368	0	0
TGM6	343641	broad.mit.edu	37	20	2413168	2413168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:2413168C>A	ENST00000202625.2	+	13	2061	c.2000C>A	c.(1999-2001)tCa>tAa	p.S667*	TGM6_ENST00000381423.1_Silent_p.L622L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	667					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGAGGGCCTCAGTCCAGTTT	0.587000													34	95					1.36615e-20	1.85371e-20	0.002836	1	0
TTLL12	23170	broad.mit.edu	37	22	43570554	43570554	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:43570554C>T	ENST00000216129.6	-	7	1048	c.985G>A	c.(985-987)Gag>Aag	p.E329K	TTLL12_ENST00000484118.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	329	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCGTCCGCCTCACTCTGGGTG	0.657000													32	105					0	0	0.003271	0	0
DSEL	92126	broad.mit.edu	37	18	65178545	65178545	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:65178545G>A	ENST00000310045.7	-	2	4804	c.3331C>T	c.(3331-3333)Cac>Tac	p.H1111Y	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1101						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGCCACAAGTGAGACAAGAGG	0.388000													16	59					0	0	0.004007	0	0
GALC	2581	broad.mit.edu	37	14	88459416	88459416	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:88459416C>T	ENST00000261304.2	-	1	199	c.93G>A	c.(91-93)ttG>ttA	p.L31L	GALC_ENST00000393569.2_Intron|GALC_ENST00000393568.4_Silent_p.L31L	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	31					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACACAGCAGCAAGGGCACCG	0.731000													4	9					0	0	0.000602	0	0
NASP	4678	broad.mit.edu	37	1	46072194	46072194	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:46072194C>A	ENST00000350030.3	+	5	427	c.340C>A	c.(340-342)Cat>Aat	p.H114N	NASP_ENST00000402363.3_Missense_Mutation_p.H116N|NASP_ENST00000351223.3_Missense_Mutation_p.H114N|NASP_ENST00000372052.4_Missense_Mutation_p.H87N|NASP_ENST00000537798.1_Missense_Mutation_p.H50N	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	114	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGAAGGTGTGCATGTGGAAGA	0.393000													22	62					1.36565e-18	1.84326e-18	0.002780	1	0
BIRC6	57448	broad.mit.edu	37	2	32626450	32626450	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32626450G>A	ENST00000421745.2	+	7	1388	c.1254G>A	c.(1252-1254)atG>atA	p.M418I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	418					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAAACTTATGAAGGTATGTT	0.358000													148	133					0	0	0.003610	0	0
TNRC18	84629	broad.mit.edu	37	7	5354756	5354756	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:5354756G>C	ENST00000399537.4	-	26	7234	c.6886C>G	c.(6886-6888)Ctg>Gtg	p.L2296V	TNRC18_ENST00000430969.1_Missense_Mutation_p.L2296V			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2296							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTGGCACCAGAAGGGCCGGG	0.667000													8	19					0	0	0.006214	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445244	29445244	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:29445244C>G	ENST00000544604.2	+	8	1250	c.1075C>G	c.(1075-1077)Cag>Gag	p.Q359E	ZNRF3_ENST00000402174.1_Missense_Mutation_p.Q259E|ZNRF3_ENST00000406323.3_Missense_Mutation_p.Q259E|ZNRF3_ENST00000332811.4_Missense_Mutation_p.Q259E	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	359						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						ACGTGGTCGGCAGCAGAGGGT	0.612000													38	124					0	0	0.004878	0	0
ERCC2	2068	broad.mit.edu	37	19	45871992	45871992	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:45871992C>G	ENST00000391945.4	-	5	333	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	ERCC2_ENST00000221481.6_Missense_Mutation_p.E86Q|ERCC2_ENST00000391940.4_Missense_Mutation_p.E62Q|ERCC2_ENST00000485403.2_Missense_Mutation_p.E62Q|ERCC2_ENST00000391944.3_Missense_Mutation_p.E86Q	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	86	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TTTCGAAGCTCTTCAATCACC	0.562000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	26					0	0	0.001984	0	0
RECQL4	9401	broad.mit.edu	37	8	145738372	145738372	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145738372C>T	ENST00000428558.2	-	16	2654	c.2613G>A	c.(2611-2613)gaG>gaA	p.E871E	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	871					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCACAGGCCTCTCCCCACCCA	0.667000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				5	7					0	0	0.000602	0	0
FBXW7	55294	broad.mit.edu	37	4	153273634	153273634	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:153273634C>T	ENST00000263981.5	-	1	489	c.249G>A	c.(247-249)atG>atA	p.M83I	FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000296555.5_Intron	NM_018315.4	NP_060785.2	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	0					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTAAAAAATCATTTTTAATG	0.413000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								12	55					0	0	0.000978	0	0
OR1F1	4992	broad.mit.edu	37	16	3254779	3254779	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:3254779T>C	ENST00000304646.2	+	1	533	c.533T>C	c.(532-534)tTc>tCc	p.F178S	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACTCACTTCTTCTGCGATGTG	0.507000													41	110					0	0	0.006999	0	0
LIPG	9388	broad.mit.edu	37	18	47088757	47088757	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:47088757C>A	ENST00000261292.4	+	1	357	c.79C>A	c.(79-81)Cca>Aca	p.P27T	LIPG_ENST00000580036.1_Missense_Mutation_p.P27T|LIPG_ENST00000577628.1_Intron|LIPG_ENST00000427224.2_Missense_Mutation_p.P27T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	27					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						ACCTTTTGGTCCAGAGGGACG	0.567000													30	79					2.25844e-05	2.83412e-05	0.007291	1	0
MED16	10025	broad.mit.edu	37	19	872058	872058	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:872058G>T	ENST00000312090.6	-	12	2116	c.1966C>A	c.(1966-1968)Cgg>Agg	p.R656R	MED16_ENST00000269814.4_Intron|MED16_ENST00000589119.1_Silent_p.R656R|MED16_ENST00000325464.1_Silent_p.R656R|MED16_ENST00000395808.3_Silent_p.R656R			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	656					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCAATTCCCGAAGCATGCCC	0.662000													14	52					1.52009e-12	1.99902e-12	0.003163	1	0
PPP1R12A	4659	broad.mit.edu	37	12	80202350	80202350	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:80202350T>C	ENST00000450142.2	-	11	1729	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.D401G|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.D488G|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.D488G|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.D488G	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	488						contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCCTTTACTATCTTTCTCCTA	0.323000													42	135					0	0	0.002852	0	0
USP36	57602	broad.mit.edu	37	17	76817134	76817134	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:76817134G>T	ENST00000542802.3	-	8	1210	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	USP36_ENST00000312010.6_Missense_Mutation_p.S256Y|USP36_ENST00000449938.2_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTTGCACACGGAGCACTTCAC	0.607000													7	3					2.0095e-06	2.54249e-06	0.001984	1	0
ZCCHC3	85364	broad.mit.edu	37	20	279103	279103	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:279103G>T	ENST00000382352.3	+	1	1367	c.876G>T	c.(874-876)ggG>ggT	p.G292G		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	292							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			ACAGGTTTGGGATCTGGACCG	0.647000													34	106					2.48696e-23	3.4046e-23	0.003271	1	0
LENG9	94059	broad.mit.edu	37	19	54974069	54974069	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:54974069G>A	ENST00000333834.4	-	1	825	c.707C>T	c.(706-708)gCc>gTc	p.A236V		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	236					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCTCTCCTGGGCCGCCTCCAG	0.682000													30	52					0	0	0.001786	0	0
RPL10A	4736	broad.mit.edu	37	6	35438423	35438423	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:35438423C>T	ENST00000322203.6	+	6	577	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	184					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						GTATAACATTCACCTGGCTGT	0.493000													45	50					0	0	0.003214	0	0
TRIM2	23321	broad.mit.edu	37	4	154243942	154243942	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:154243942G>A	ENST00000338700.5	+	9	1990	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	TRIM2_ENST00000437508.2_Missense_Mutation_p.R615Q	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	615						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTTGGTAGCCGAGGAAATGGG	0.473000													22	47					0	0	0.002299	0	0
AMBN	258	broad.mit.edu	37	4	71459067	71459067	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:71459067C>T	ENST00000322937.6	+	2	142	c.39C>T	c.(37-39)gaC>gaT	p.D13D	AMBN_ENST00000449493.2_Silent_p.D13D	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	13					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AAATGAAGGACCTGATACTGA	0.343000													17	98					0	0	0.001523	0	0
OR4N2	390429	broad.mit.edu	37	14	20296468	20296468	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20296468T>A	ENST00000315947.1	+	1	861	c.861T>A	c.(859-861)taT>taA	p.Y287*	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTCATTTATACCCTTCGCA	0.418000													21	70					0	0	0.008871	0	0
CCDC39	339829	broad.mit.edu	37	3	180372711	180372711	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:180372711C>G	ENST00000273654.4	-	13	1640	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	CCDC39_ENST00000442201.2_Missense_Mutation_p.E257Q			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	257					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTTCTTTTTCTCTCGTTTCC	0.294000													8	30					0	0	0.003080	0	0
ING3	54556	broad.mit.edu	37	7	120610799	120610799	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:120610799A>T	ENST00000315870.5	+	10	1114	c.966A>T	c.(964-966)ttA>ttT	p.L322F	ING3_ENST00000431467.1_Missense_Mutation_p.L307F	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	322	Poly-Ser.				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					CTTCTTCCTTATCATCGTGTT	0.378000													17	45					0	0	0.007413	0	0
SMAD9	4093	broad.mit.edu	37	13	37422860	37422860	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:37422860G>C	ENST00000379826.4	-	7	1699	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V	SMAD9_ENST00000399275.2_Missense_Mutation_p.L453V|SMAD9_ENST00000350148.5_Missense_Mutation_p.L416V	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	453	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ATCTGAGTCAGAACTTTGTCC	0.507000													97	188					0	0	0.003610	0	0
TCF25	22980	broad.mit.edu	37	16	89962447	89962447	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:89962447C>T	ENST00000263346.8	+	9	1034	c.978C>T	c.(976-978)ctC>ctT	p.L326L	TCF25_ENST00000263347.7_Silent_p.L91L	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	326					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TGTTCAGTCTCACCAGTGGGG	0.632000													10	35					0	0	0.002450	0	0
OXT	5020	broad.mit.edu	37	20	3052881	3052881	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:3052881G>A	ENST00000217386.2	+	2	315	c.279G>A	c.(277-279)ggG>ggA	p.G93G		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	93					signal transduction		neurohypophyseal hormone activity			lung(2)	2					Oxytocin(DB00107)	AGGCGTGCGGGAGCGGGGGCC	0.766000													13	28					0	0	0.001855	0	0
MRE11A	4361	broad.mit.edu	37	11	94201031	94201031	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:94201031C>A	ENST00000323929.3	-	10	1268	c.1046G>T	c.(1045-1047)cGg>cTg	p.R349L	MRE11A_ENST00000393241.4_Missense_Mutation_p.R349L|MRE11A_ENST00000407439.3_Missense_Mutation_p.R352L|MRE11A_ENST00000323977.3_Missense_Mutation_p.R349L	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	349					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CAGACGTTCCCGTTCAGCATT	0.333000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				27	26					1.32181e-22	1.80632e-22	0.007291	1	0
PIK3CG	5294	broad.mit.edu	37	7	106508023	106508023	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:106508023A>G	ENST00000359195.3	+	2	327	c.17A>G	c.(16-18)tAt>tGt	p.Y6C	PIK3CG_ENST00000440650.2_Missense_Mutation_p.Y6C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.Y6C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	6					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTGGAGAACTATAAACAGCCC	0.582000													24	72					0	0	0.004656	0	0
NBPF3	84224	broad.mit.edu	37	1	21800042	21800042	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:21800042C>A	ENST00000318220.6	+	10	1784	c.736C>A	c.(736-738)Cat>Aat	p.H246N	NBPF3_ENST00000454000.2_Missense_Mutation_p.H232N|NBPF3_ENST00000342104.5_Missense_Mutation_p.H302N|NBPF3_ENST00000318249.5_Missense_Mutation_p.H302N			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	302	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCATCCTCTCATGATGAATG	0.448000													81	255					3.31034e-53	4.6393e-53	0.003610	1	0
TTI2	80185	broad.mit.edu	37	8	33370001	33370001	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:33370001C>T	ENST00000431156.2	-	2	749	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	TTI2_ENST00000520636.1_Missense_Mutation_p.R44Q|TTI2_ENST00000360742.5_Missense_Mutation_p.R44Q	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	44							binding										TACATTGCCTCGTCGTGCCTC	0.507000													32	151					0	0	0.004289	0	0
ABCE1	6059	broad.mit.edu	37	4	146046206	146046206	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:146046206G>A	ENST00000296577.4	+	17	2220	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	569					interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATTCAGAAGAGATCCAAACAA	0.294000													16	83					0	0	0.001882	0	0
IGF1R	3480	broad.mit.edu	37	15	99459355	99459355	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:99459355C>T	ENST00000268035.6	+	9	2602	c.1991C>T	c.(1990-1992)tCc>tTc	p.S664F	IGF1R_ENST00000558762.1_Missense_Mutation_p.S664F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	664	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	AATTACTGCTCCAAAGGTAAG	0.552000													25	61					0	0	0.005443	0	0
CFH	3075	broad.mit.edu	37	1	196712595	196712595	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:196712595G>A	ENST00000367429.4	+	20	3387	c.3147G>A	c.(3145-3147)gtG>gtA	p.V1049V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1049	Sushi 18.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCTCCTGTGTGAATCCGCCCA	0.373000													22	115					0	0	0.002299	0	0
IQSEC3	440073	broad.mit.edu	37	12	278230	278230	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:278230G>A	ENST00000538872.1	+	12	3141	c.3023G>A	c.(3022-3024)gGa>gAa	p.G1008E	IQSEC3_ENST00000382841.2_Missense_Mutation_p.G705E|IQSEC3_ENST00000326261.4_Missense_Mutation_p.G1008E|IQSEC3_ENST00000537151.1_3'UTR|RP11-598F7.6_ENST00000537295.1_lincRNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1008					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGCCCTGCGGAGCCCAGGGG	0.622000													44	104					0	0	0.003214	0	0
GRIN2C	2905	broad.mit.edu	37	17	72838777	72838777	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72838777G>A	ENST00000293190.5	-	13	3645	c.3499C>T	c.(3499-3501)Cac>Tac	p.H1167Y		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1167					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGTGGAAGGTGAGGACAGACA	0.711000													6	11					0	0	0.001168	0	0
DDN	23109	broad.mit.edu	37	12	49392962	49392962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:49392962C>A	ENST00000421952.2	-	1	130	c.109G>T	c.(109-111)Gaa>Taa	p.E37*	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	37						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GTCTTCACTTCTATCACCAAT	0.607000													16	30					4.7546e-09	6.12674e-09	0.004007	1	0
PPP2R3A	5523	broad.mit.edu	37	3	135721464	135721464	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:135721464A>T	ENST00000264977.3	+	2	1741	c.1124A>T	c.(1123-1125)aAt>aTt	p.N375I	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	375					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AACTCCACAAATTCCTTATAT	0.363000													25	67					0	0	0.003330	0	0
KRT18	3875	broad.mit.edu	37	12	53345517	53345517	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:53345517T>G	ENST00000550600.1	+	6	879	c.825T>G	c.(823-825)atT>atG	p.I275M	KRT18_ENST00000388837.2_Missense_Mutation_p.I275M|KRT18_ENST00000388835.3_Missense_Mutation_p.I275M|AC107016.2_ENST00000581256.1_RNA			P05783	K1C18_HUMAN	keratin 18	275	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						TCCTGCAGATTGAGGAGAGCA	0.607000													8	38					0	0	0.003080	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404392	61404392	+	RNA	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:61404392C>T	ENST00000496593.1	+	0	996					NR_002775.2																						ACTGCTGCCTCGCATCTGGGA	0.612000													16	42					0	0	0.003163	0	0
PDCD5	9141	broad.mit.edu	37	19	33072194	33072194	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:33072194G>A	ENST00000419343.3	+	1	88	c.27G>A	c.(25-27)ctG>ctA	p.L9L	PDCD5_ENST00000379316.3_Silent_p.L9L|PDCD5_ENST00000590247.2_Silent_p.L9L|PDCD5_ENST00000592786.1_Silent_p.L9L			O14737	PDCD5_HUMAN	programmed cell death 5						apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					TTGAGGCGCTGAGGAGACAGA	0.736000													7	11					0	0	0.004482	0	0
OR2G2	81470	broad.mit.edu	37	1	247752379	247752379	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:247752379G>A	ENST00000320065.1	+	1	718	c.718G>A	c.(718-720)Gca>Aca	p.A240T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAGACAGAAAGCATTCGGGAC	0.493000													28	93					0	0	0.006320	0	0
IGFL4	444882	broad.mit.edu	37	19	46543538	46543538	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:46543538C>A	ENST00000377697.1	-	3	260	c.207G>T	c.(205-207)tgG>tgT	p.W69C	IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	69						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GGAAGCAGGGCCAGAAGGTGC	0.592000													26	57					3.7963e-18	5.09714e-18	0.003330	1	0
TACC2	10579	broad.mit.edu	37	10	123844863	123844863	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:123844863G>A	ENST00000369005.1	+	4	3188	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	TACC2_ENST00000453444.2_Missense_Mutation_p.E950K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E950K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E950K|TACC2_ENST00000515273.1_Missense_Mutation_p.E950K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	950						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAAGCGGCCAGAGGGAGCATG	0.522000													39	109					0	0	0.007835	0	0
LRRN1	57633	broad.mit.edu	37	3	3886395	3886395	+	Missense_Mutation	SNP	G	G	A	rs140162397		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:3886395G>A	ENST00000319331.3	+	2	831	c.70G>A	c.(70-72)Gag>Aag	p.E24K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	24						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCATTAACCGAGTCTTCCAT	0.473000													37	69					0	0	0.004289	0	0
EID2	163126	broad.mit.edu	37	19	40030040	40030040	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:40030040A>C	ENST00000390658.2	-	1	830	c.680T>G	c.(679-681)cTt>cGt	p.L227R		NM_153232.3	NP_694964.3	Q8N6I1	EID2_HUMAN	EP300 interacting inhibitor of differentiation 2	227					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding			large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ATCGCAACCAAGTTCTTCTAT	0.413000													25	80					0	0	0.004656	0	0
CCDC88C	440193	broad.mit.edu	37	14	91792370	91792370	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:91792370C>T	ENST00000389857.6	-	11	1167	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	361					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCCTTGGTTTCAATTAAAATG	0.458000													8	23					0	0	0.004482	0	0
CHMP4C	92421	broad.mit.edu	37	8	82670747	82670747	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:82670747G>A	ENST00000297265.4	+	5	863	c.670G>A	c.(670-672)Gat>Aat	p.D224N		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	224	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						AGAGGATGATGATATCAAACA	0.318000													20	98					0	0	0.001882	0	0
BST1	683	broad.mit.edu	37	4	15720599	15720599	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:15720599C>T	ENST00000382346.3	+	8	868	c.819C>T	c.(817-819)agC>agT	p.S273S	BST1_ENST00000265016.4_Silent_p.S258S			Q10588	BST1_HUMAN	bone marrow stromal cell antigen 1	258					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						TCCAGTACAGCTGTATTAATG	0.438000													10	30					0	0	0.008291	0	0
SLC12A1	6557	broad.mit.edu	37	15	48559784	48559784	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:48559784G>T	ENST00000396577.3	+	18	2396	c.2181G>T	c.(2179-2181)gaG>gaT	p.E727D	SLC12A1_ENST00000558405.1_Missense_Mutation_p.E727D|SLC12A1_ENST00000380993.3_Missense_Mutation_p.E727D	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	727					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGTTAAGGAGATGAACAGTG	0.433000													26	64					6.12954e-19	8.30244e-19	0.004656	1	0
FAM216A	29902	broad.mit.edu	37	12	110927913	110927913	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110927913G>A	ENST00000377673.5	+	7	1305	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_013300.2	NP_037432.2	Q8WUB2	CL024_HUMAN	family with sequence similarity 216, member A	265																	GTCAATTGAAGAACAGGGAGA	0.363000													36	105					0	0	0.005524	0	0
ZNF225	7768	broad.mit.edu	37	19	44635316	44635316	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:44635316G>C	ENST00000262894.6	+	5	829	c.549G>C	c.(547-549)aaG>aaC	p.K183N	ZNF225_ENST00000590612.1_Missense_Mutation_p.K183N|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AATGTGGAAAGAGTTTCTGTT	0.403000													25	91					0	0	0.002780	0	0
CCDC170	80129	broad.mit.edu	37	6	151857488	151857488	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:151857488G>T	ENST00000367290.5	+	2	182	c.93G>T	c.(91-93)acG>acT	p.T31T	CCDC170_ENST00000239374.7_Silent_p.T31T|CCDC170_ENST00000544131.1_3'UTR			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	31																	TCCCGGTCACGCGGGAGCAGT	0.428000													23	34					7.92952e-12	1.041e-11	0.003954	1	0
GOLGA3	2802	broad.mit.edu	37	12	133381318	133381318	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:133381318G>A	ENST00000204726.3	-	7	2139	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	GOLGA3_ENST00000456883.2_Silent_p.L527L|GOLGA3_ENST00000450791.2_Silent_p.L527L|GOLGA3_ENST00000545875.1_Silent_p.L527L|GOLGA3_ENST00000537452.1_Silent_p.L527L	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	527					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGTCCTTGCTGAGCATGCTCC	0.637000													28	68					0	0	0.008361	0	0
C9orf3	84909	broad.mit.edu	37	9	97522147	97522147	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:97522147C>A	ENST00000375315.2	+	1	82	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	C9orf3_ENST00000277198.2_Missense_Mutation_p.L28M|C9orf3_ENST00000297979.5_Missense_Mutation_p.L28M	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	28					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)		GCACTATGTACTGGATTTGGA	0.443000													28	62					6.32553e-13	8.34709e-13	0.004656	1	0
RINT1	60561	broad.mit.edu	37	7	105189056	105189056	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:105189056T>A	ENST00000257700.2	+	7	1126	c.895T>A	c.(895-897)Tcc>Acc	p.S299T		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	299	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTTCCTGCCTCCCCTTCTGT	0.433000													68	154					0	0	0.003610	0	0
GPR114	221188	broad.mit.edu	37	16	57596033	57596033	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57596033T>C	ENST00000340339.4	+	2	551	c.28T>C	c.(28-30)Tgc>Cgc	p.C10R	GPR114_ENST00000349457.3_Missense_Mutation_p.C10R|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	10					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CCTTTTCCTGTGCCTGTGCCT	0.552000													36	76					0	0	0.004289	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867567	7867567	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:7867567T>C	ENST00000264669.5	-	2	766	c.630A>G	c.(628-630)aaA>aaG	p.K210K	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	210					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCATGCCACCTTTTCTGAGAC	0.433000													45	96					0	0	0.002522	0	0
CREBRF	153222	broad.mit.edu	37	5	172518250	172518250	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:172518250A>T	ENST00000540014.1	+	4	1387	c.1068A>T	c.(1066-1068)gaA>gaT	p.E356D	CREBRF_ENST00000520420.1_Missense_Mutation_p.E356D|CREBRF_ENST00000296953.2_Missense_Mutation_p.E356D|CREBRF_ENST00000522692.1_Missense_Mutation_p.E356D			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	356	Glu-rich.						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										GTCCtgaagaagatgaggagg	0.448000													9	24					0	0	0.008291	0	0
EP400	57634	broad.mit.edu	37	12	132547111	132547111	+	Silent	SNP	G	G	A	rs142077620		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547111G>A	ENST00000333577.4	+	48	8416	c.8307G>A	c.(8305-8307)caG>caA	p.Q2769Q	EP400_ENST00000389561.2_Silent_p.Q2733Q|EP400_ENST00000330386.6_Silent_p.Q2652Q|EP400_ENST00000332482.4_Silent_p.Q2696Q|EP400_ENST00000389562.2_Silent_p.Q2732Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2769	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.597000													10	72					0	0	0.008291	0	0
ITGA10	8515	broad.mit.edu	37	1	145541826	145541826	+	Missense_Mutation	SNP	C	C	T	rs140404631		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:145541826C>T	ENST00000369304.3	+	29	3524	c.3349C>T	c.(3349-3351)Cgg>Tgg	p.R1117W	ITGA10_ENST00000538811.1_Missense_Mutation_p.R986W|ITGA10_ENST00000539363.1_Missense_Mutation_p.R974W|RP11-315I20.3_ENST00000415065.2_RNA	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1117					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTTCAGACCCGGCCTATCCT	0.532000													34	111					0	0	0.004878	0	0
IMPG2	50939	broad.mit.edu	37	3	100961559	100961559	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:100961559C>T	ENST00000193391.7	-	14	3182	c.2995G>A	c.(2995-2997)Gat>Aat	p.D999N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	999	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAGTATTTATCAATAGCCAAG	0.398000													32	69					0	0	0.002836	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79733327	79733327	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:79733327G>T	ENST00000338008.5	+	3	1003	c.823G>T	c.(823-825)Gtt>Ttt	p.V275F	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V275F|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V275F	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	275					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTAAAAGATGTTGGCTTAGT	0.418000													32	82					6.00712e-18	8.05143e-18	0.002445	1	0
CAMK2G	818	broad.mit.edu	37	10	75609037	75609037	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:75609037G>A	ENST00000423381.1	-	6	519	c.396C>T	c.(394-396)atC>atT	p.I132I	CAMK2G_ENST00000322680.3_Silent_p.I132I|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Silent_p.I132I|CAMK2G_ENST00000372765.1_Silent_p.I132I|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Silent_p.I132I|CAMK2G_ENST00000322635.3_Silent_p.I132I|CAMK2G_ENST00000351293.3_Silent_p.I132I	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	132	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	p.I132I(2)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CCCTGTGGACGATGTCATGCT	0.522000											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	40					0	0	0.000978	0	0
WDR3	10885	broad.mit.edu	37	1	118486119	118486119	+	Missense_Mutation	SNP	A	A	G	rs141364091	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:118486119A>G	ENST00000349139.5	+	11	1245	c.1198A>G	c.(1198-1200)Act>Gct	p.T400A		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATCCTTGCCTACTCCTCAGCC	0.473000													3	100					0	0	0.004672	0	0
TNN	63923	broad.mit.edu	37	1	175086247	175086247	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:175086247G>A	ENST00000239462.4	+	10	2405	c.2292G>A	c.(2290-2292)ctG>ctA	p.L764L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	764	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACTGTCCTGACGGGCCTGA	0.637000													27	95					0	0	0.006320	0	0
AKAP9	10142	broad.mit.edu	37	7	91695741	91695741	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91695741G>A	ENST00000359028.2	+	27	6472	c.6247G>A	c.(6247-6249)Gag>Aag	p.E2083K	AKAP9_ENST00000358100.2_Splice_Site_p.E2083K|AKAP9_ENST00000356239.3_Splice_Site_p.E2071K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2083	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAAACTTTAGGAGCAAGCCAT	0.348000			T	BRAF	papillary thyroid								19	61					0	0	0.006122	0	0
TTYH2	94015	broad.mit.edu	37	17	72249233	72249233	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72249233G>A	ENST00000441391.2	+	6	1522	c.310G>A	c.(310-312)Gat>Aat	p.D104N	TTYH2_ENST00000269346.4_Missense_Mutation_p.D425N|TTYH2_ENST00000529107.1_Missense_Mutation_p.D404N	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	425						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAGAGACTACGATGACATTGA	0.572000													72	172					0	0	0.003610	0	0
RAPH1	65059	broad.mit.edu	37	2	204360028	204360028	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:204360028T>G	ENST00000319170.5	-	2	348	c.49A>C	c.(49-51)Agt>Cgt	p.S17R	RAPH1_ENST00000374488.2_Missense_Mutation_p.S17R|RAPH1_ENST00000308091.4_Missense_Mutation_p.S17R|RAPH1_ENST00000453034.1_Missense_Mutation_p.S17R|RAPH1_ENST00000418114.1_Missense_Mutation_p.S17R|RAPH1_ENST00000439222.1_Missense_Mutation_p.S17R|RAPH1_ENST00000374489.2_Missense_Mutation_p.S17R|RAPH1_ENST00000374493.3_Missense_Mutation_p.S17R|RAPH1_ENST00000457812.1_Missense_Mutation_p.S17R|RAPH1_ENST00000419464.1_Missense_Mutation_p.S17R|RAPH1_ENST00000423104.1_Missense_Mutation_p.S17R	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	17					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCTTGTCACTGTCTTCTTCA	0.413000													73	64					0	0	0.003610	0	0
CD1E	913	broad.mit.edu	37	1	158326312	158326312	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:158326312T>G	ENST00000444681.2	+	4	925	c.632T>G	c.(631-633)cTg>cGg	p.L211R	CD1E_ENST00000368157.1_Missense_Mutation_p.L66R|CD1E_ENST00000368167.3_Missense_Mutation_p.L310R|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368164.3_Silent_p.P86P|CD1E_ENST00000368154.1_Missense_Mutation_p.L66R|CD1E_ENST00000368166.3_Missense_Mutation_p.L121R|CD1E_ENST00000368161.3_Silent_p.P275P|CD1E_ENST00000368165.3_Missense_Mutation_p.L220R|CD1E_ENST00000368160.3_Missense_Mutation_p.L310R|CD1E_ENST00000368163.3_Missense_Mutation_p.L255R|CD1E_ENST00000368155.3_Missense_Mutation_p.L165R|CD1E_ENST00000368156.1_Missense_Mutation_p.L220R|CD1E_ENST00000452291.2_Missense_Mutation_p.L121R	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	310	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTCATCCTGATCTGTTTG	0.393000													11	37					0	0	0.000978	0	0
ASH1L	55870	broad.mit.edu	37	1	155490915	155490915	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155490915C>T	ENST00000368346.3	-	2	1035	c.396G>A	c.(394-396)aaG>aaA	p.K132K	ASH1L_ENST00000392403.3_Silent_p.K132K|ASH1L_ENST00000548830.1_Silent_p.K132K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	132					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTGTTCATTCTTTTCATCCG	0.333000													78	271					0	0	0.003610	0	0
TGM5	9333	broad.mit.edu	37	15	43531079	43531079	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:43531079G>A	ENST00000220420.5	-	9	1288	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	TGM5_ENST00000349114.4_Silent_p.I345I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	427					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCTTTGTGCTGATAAAATTGC	0.507000													17	33					0	0	0.004990	0	0
FAM155A	728215	broad.mit.edu	37	13	108518492	108518492	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:108518492G>A	ENST00000375915.2	-	1	591	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	151						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTTGCCCCGGTCGTCTTTGC	0.692000													16	26					0	0	0.004007	0	0
PRPF38A	84950	broad.mit.edu	37	1	52874277	52874277	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:52874277G>C	ENST00000257181.9	+	3	513	c.327G>C	c.(325-327)ctG>ctC	p.L109L	PRPF38A_ENST00000474048.1_Intron	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	109					mRNA processing|RNA splicing	spliceosomal complex				cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						ACATGAGGCTGACAGGCACTG	0.453000													22	76					0	0	0.001882	0	0
IREB2	3658	broad.mit.edu	37	15	78758655	78758655	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:78758655G>A	ENST00000258886.8	+	5	602	c.453G>A	c.(451-453)caG>caA	p.Q151Q	IREB2_ENST00000560440.1_Silent_p.Q151Q|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	151							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTGACCTGCAGAAAGCAGGAA	0.458000													21	35					0	0	0.001523	0	0
NBN	4683	broad.mit.edu	37	8	90995014	90995014	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:90995014T>G	ENST00000265433.3	-	2	261	c.107A>C	c.(106-108)gAa>gCa	p.E36A	NBN_ENST00000409330.1_5'UTR	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	36	FHA.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTGATCATTTTCAATCAGAAT	0.343000								Homologous recombination					35	116					0	0	0.003755	0	0
SLC22A4	6583	broad.mit.edu	37	5	131630518	131630518	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:131630518G>A	ENST00000200652.3	+	1	383	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	70					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTCCCGCTGCGGCTGCGGGAC	0.726000													13	21					0	0	0.001368	0	0
GNE	10020	broad.mit.edu	37	9	36276896	36276896	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:36276896G>A	ENST00000396594.3	-	1	157	c.46C>T	c.(46-48)Cct>Tct	p.P16S	GNE_ENST00000543356.2_Silent_p.D48D	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	0					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTTACATGAGGTCCTTGAAAG	0.408000													78	78					0	0	0.003610	0	0
PPOX	5498	broad.mit.edu	37	1	161140930	161140930	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:161140930A>C	ENST00000367999.4	+	13	1664	c.1398A>C	c.(1396-1398)gcA>gcC	p.A466A	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000544598.1_Silent_p.A174A|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Silent_p.A466A	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	466					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGCGCCAGGCAGCAGTCAGTG	0.512000													40	174					0	0	0.002852	0	0
NOM1	64434	broad.mit.edu	37	7	156745289	156745289	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:156745289A>G	ENST00000275820.3	+	2	1124	c.1109A>G	c.(1108-1110)aAc>aGc	p.N370S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	370	MIF4G.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGTCTACTTAACAGGTGACCT	0.413000													12	34					0	0	0.000978	0	0
IGF1R	3480	broad.mit.edu	37	15	99459919	99459919	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:99459919A>C	ENST00000268035.6	+	10	2626	c.2015A>C	c.(2014-2016)aAg>aCg	p.K672T	IGF1R_ENST00000558762.1_Missense_Mutation_p.K672T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	672	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCCATCAGGAAGTATGCCGAC	0.488000													19	47					0	0	0.001523	0	0
TMEM57	55219	broad.mit.edu	37	1	25810726	25810726	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:25810726T>G	ENST00000374343.4	+	7	1453	c.1274T>G	c.(1273-1275)aTg>aGg	p.M425R	TMEM57_ENST00000399766.3_Missense_Mutation_p.M198R|TMEM57_ENST00000399763.3_Missense_Mutation_p.M67R	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	425						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCAGAAATGGGCCAGCTT	0.572000													21	94					0	0	0.008871	0	0
ITPR2	3709	broad.mit.edu	37	12	26810951	26810951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:26810951G>A	ENST00000381340.3	-	17	2415	c.1999C>T	c.(1999-2001)Caa>Taa	p.Q667*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	667					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TACTTAGTTTGAATGAGAATG	0.348000													28	68					0	0	0.006320	0	0
SPAG17	200162	broad.mit.edu	37	1	118506543	118506543	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:118506543T>C	ENST00000336338.5	-	48	6616	c.6551A>G	c.(6550-6552)aAt>aGt	p.N2184S	WDR3_ENST00000349139.5_3'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2184						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTATCATAATTGCTGCTTGT	0.333000													35	108					0	0	0.006230	0	0
NUMA1	4926	broad.mit.edu	37	11	71724518	71724518	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:71724518G>A	ENST00000393695.3	-	15	4362	c.4031C>T	c.(4030-4032)tCc>tTc	p.S1344F	NUMA1_ENST00000358965.6_Missense_Mutation_p.S1344F|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1344					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCAGGGTGGAGAGGGCCTG	0.647000			T	RARA	APL								12	125					0	0	0.001368	0	0
AKAP9	10142	broad.mit.edu	37	7	91694694	91694694	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91694694G>C	ENST00000359028.2	+	26	6388	c.6163G>C	c.(6163-6165)Gaa>Caa	p.E2055Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E2055Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2043Q|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2055	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGGAACAAGAAAAAAATAC	0.323000			T	BRAF	papillary thyroid								14	51					0	0	0.002450	0	0
ANKRD27	84079	broad.mit.edu	37	19	33106574	33106574	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:33106574G>A	ENST00000306065.4	-	22	2323	c.2165C>T	c.(2164-2166)cCa>cTa	p.P722L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	722					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTCTGAGCTGGGGCACACTT	0.502000													25	89					0	0	0.008361	0	0
CLDN17	26285	broad.mit.edu	37	21	31538933	31538933	+	Translation_Start_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:31538933C>T	ENST00000286808.3	-	1	38	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	1					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GATAAAATGCCATTGCCTTTA	0.468000													15	59					0	0	0.002450	0	0
ZNF655	79027	broad.mit.edu	37	7	99169382	99169382	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:99169382A>G	ENST00000424881.1	+	3	428	c.208A>G	c.(208-210)Aag>Gag	p.K70E	ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000493277.1_Missense_Mutation_p.K70E|ZNF655_ENST00000252713.4_Intron|GS1-259H13.10_ENST00000455905.1_Intron|ZNF655_ENST00000394163.2_Intron|ZNF655_ENST00000425063.1_Silent_p.L98L|ZNF655_ENST00000454654.1_Silent_p.L98L	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	45					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TCTGGAAACTAAGACTAGAGA	0.433000													5	18					0	0	0.001168	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007547	6007547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:6007547G>A	ENST00000399933.3	-	1	240	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.Q81*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	81										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CGGTAGCCCTGCTGTAGCTCG	0.662000													41	28					0	0	0.002222	0	0
PRLH	51052	broad.mit.edu	37	2	238475309	238475309	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:238475309G>A	ENST00000165524.1	+	1	93	c.93G>A	c.(91-93)gaG>gaA	p.E31E		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	31						extracellular region				endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		ACTCCATGGAGATCCGCAGTG	0.652000													3	3					0	0	0.004672	0	0
TOMM70A	9868	broad.mit.edu	37	3	100103344	100103344	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:100103344C>T	ENST00000284320.5	-	4	1162	c.714G>A	c.(712-714)gaG>gaA	p.E238E		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	238					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTTTGGCTTTCTCTTTTCCAA	0.363000													33	86					0	0	0.003271	0	0
PRSS36	146547	broad.mit.edu	37	16	31157215	31157215	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:31157215G>A	ENST00000268281.4	-	6	673	c.615C>T	c.(613-615)acC>acT	p.T205T	PRSS36_ENST00000569305.1_Silent_p.T205T|PRSS36_ENST00000418068.2_Silent_p.T205T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	205	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GACATTGACAGGTGGCCTCGC	0.612000													14	41					0	0	0.001855	0	0
PARP14	54625	broad.mit.edu	37	3	122437771	122437771	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:122437771C>T	ENST00000474629.2	+	14	5039	c.4773C>T	c.(4771-4773)caC>caT	p.H1591H	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1591	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAAAGGGCCACAGTTTATCTG	0.393000													8	38					0	0	0.003080	0	0
EP400	57634	broad.mit.edu	37	12	132547117	132547117	+	Silent	SNP	G	G	A	rs147048182	by1000genomes	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547117G>A	ENST00000333577.4	+	48	8422	c.8313G>A	c.(8311-8313)caG>caA	p.Q2771Q	EP400_ENST00000389561.2_Silent_p.Q2735Q|EP400_ENST00000330386.6_Silent_p.Q2654Q|EP400_ENST00000332482.4_Silent_p.Q2698Q|EP400_ENST00000389562.2_Silent_p.Q2734Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2771	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.597000													9	64					0	0	0.004482	0	0
ZP1	22917	broad.mit.edu	37	11	60636673	60636673	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:60636673C>T	ENST00000278853.5	+	2	252	c.252C>T	c.(250-252)gtC>gtT	p.V84V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	84					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCACTGGGTCACCTCCAGGC	0.587000													20	41					0	0	0.002299	0	0
UBE4B	10277	broad.mit.edu	37	1	10239490	10239490	+	Silent	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:10239490C>G	ENST00000377157.3	+	26	4055	c.2994C>G	c.(2992-2994)acC>acG	p.T998T	UBE4B_ENST00000343090.6_Silent_p.T1239T|UBE4B_ENST00000253251.8_Silent_p.T1110T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1239					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGATGGACACCCTCATGACAG	0.572000													21	109					0	0	0.001882	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652235	45652235	+	RNA	SNP	C	C	G	rs149362183		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:45652235C>G	ENST00000427229.2	+	0	1749																											GAAGGAACATCTGAAGGAACA	0.478000													9	33					0	0	0.000978	0	0
OR4K17	390436	broad.mit.edu	37	14	20586496	20586496	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20586496C>T	ENST00000315543.4	+	1	931	c.931C>T	c.(931-933)Cct>Tct	p.P311S		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CATCATCACTCCTATCTTGAA	0.373000													12	38					0	0	0.001855	0	0
FERD3L	222894	broad.mit.edu	37	7	19184952	19184952	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:19184952T>C	ENST00000275461.3	-	1	92	c.34A>G	c.(34-36)Acg>Gcg	p.T12A	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	12					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TCCAGCACCGTAGTGTCCACG	0.672000													13	33					0	0	0.002450	0	0
MED12L	116931	broad.mit.edu	37	3	151102873	151102873	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:151102873C>T	ENST00000474524.1	+	34	4915	c.4877C>T	c.(4876-4878)cCt>cTt	p.P1626L	MED12L_ENST00000273432.4_Missense_Mutation_p.P1486L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1626					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGTTACTACCTTTGCCGAAA	0.388000													52	161					0	0	0.003610	0	0
PDZD2	23037	broad.mit.edu	37	5	32059441	32059441	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:32059441C>A	ENST00000438447.1	+	13	2685	c.2297C>A	c.(2296-2298)gCc>gAc	p.A766D	PDZD2_ENST00000282493.3_Missense_Mutation_p.A766D			O15018	PDZD2_HUMAN	PDZ domain containing 2	766	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGATCAGTGGCCAAGATGGAG	0.448000													17	43					6.49762e-13	8.55947e-13	0.006122	1	0
AK9	221264	broad.mit.edu	37	6	109850208	109850208	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:109850208A>G	ENST00000355283.1	-	5	1122	c.876T>C	c.(874-876)agT>agC	p.S292S	AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron					adenylate kinase 9																		aaacaaaaCTACTTACCTCCC	0.398000													23	26					0	0	0.002299	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111506035	111506035	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:111506035C>T	ENST00000261486.5	-	20	1978	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	568						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATTGTTCTTCGGACAATCCG	0.363000													11	37					0	0	0.001855	0	0
FREM2	341640	broad.mit.edu	37	13	39263139	39263139	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:39263139T>C	ENST00000280481.7	+	1	1874	c.1658T>C	c.(1657-1659)tTa>tCa	p.L553S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	553					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCATCACCTTAGTGCCTGTG	0.582000													13	21					0	0	0.001368	0	0
FPGT	8790	broad.mit.edu	37	1	74670826	74670826	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:74670826T>C	ENST00000609362.1	+	4	1132	c.1095T>C	c.(1093-1095)taT>taC	p.Y365Y	FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370898.3_Silent_p.Y378Y|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CCGAAGAATATTTGTTTTACT	0.328000													21	58					0	0	0.002299	0	0
TRIM2	23321	broad.mit.edu	37	4	154243969	154243969	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:154243969G>A	ENST00000338700.5	+	9	2016		c.e9+1		TRIM2_ENST00000437508.2_Splice_Site	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2							cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGTTTGCAGGTACACTCGAT	0.473000													25	35					0	0	0.005443	0	0
BAIAP3	8938	broad.mit.edu	37	16	1395092	1395092	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:1395092C>G	ENST00000324385.5	+	21	2195	c.2037C>G	c.(2035-2037)atC>atG	p.I679M	BAIAP3_ENST00000421665.2_Missense_Mutation_p.I608M|BAIAP3_ENST00000397488.2_Missense_Mutation_p.I661M|BAIAP3_ENST00000562208.1_Missense_Mutation_p.I621M|BAIAP3_ENST00000426824.3_Missense_Mutation_p.I644M|BAIAP3_ENST00000397489.1_Missense_Mutation_p.I661M|BAIAP3_ENST00000568887.1_Missense_Mutation_p.I616M	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	679	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GGGATAGCATCCCTGGCCGGT	0.647000													41	111					0	0	0.006999	0	0
CCDC50	152137	broad.mit.edu	37	3	191098675	191098675	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:191098675G>A	ENST00000392455.3	+	8	1266	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CCDC50_ENST00000392456.3_Missense_Mutation_p.R399Q	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	223	Lys-rich.					cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GCCAAGGAGCGGGAGAAATCA	0.368000													12	20					0	0	0.001855	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81445085	81445085	+	RNA	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:81445085G>A	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GGAGAAGGTGGAGGAGGTGTG	0.542000													3	14					0	0	0.004672	0	0
HCN3	57657	broad.mit.edu	37	1	155247568	155247568	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155247568C>T	ENST00000368358.3	+	1	195	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	63	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			GTTCTCCCTTCGGGTGTTCGG	0.622000													10	20					0	0	0.001368	0	0
GDF9	2661	broad.mit.edu	37	5	132197956	132197956	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:132197956A>G	ENST00000378673.2	-	3	1556	c.690T>C	c.(688-690)agT>agC	p.S230S	GDF9_ENST00000296875.2_Silent_p.S230S			O60383	GDF9_HUMAN	growth differentiation factor 9	230					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATGTGAATACTTCTCTTGT	0.408000													31	62					0	0	0.008361	0	0
CCP110	9738	broad.mit.edu	37	16	19539318	19539318	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:19539318C>T	ENST00000396212.2	+	3	551	c.115C>T	c.(115-117)Cat>Tat	p.H39Y	CCP110_ENST00000396208.2_Missense_Mutation_p.H39Y|CCP110_ENST00000381396.5_Missense_Mutation_p.H39Y	NM_014711.4	NP_055526	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	39	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TATTCGCTTTCATGGAGTGGC	0.373000													30	78					0	0	0.003755	0	0
LRRN3	54674	broad.mit.edu	37	7	110763553	110763553	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:110763553C>G	ENST00000451085.1	+	4	1771	c.725C>G	c.(724-726)tCt>tGt	p.S242C	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.S242C|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S242C	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	242						integral to membrane		p.S242C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GAAAGCATCTCTTTTTACGAT	0.343000													26	61					0	0	0.007291	0	0
HGS	9146	broad.mit.edu	37	17	79668080	79668080	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:79668080C>T	ENST00000329138.4	+	21	2277	c.2142C>T	c.(2140-2142)ctC>ctT	p.L714L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	714	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AACAGAATCTCATGACCACCC	0.602000													20	71					0	0	0.001523	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205312535	205312535	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:205312535G>C	ENST00000367156.3	-	5	1014	c.198C>G	c.(196-198)ccC>ccG	p.P66P	KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000367155.3_Silent_p.P66P|KLHDC8A_ENST00000539253.1_Silent_p.P66P	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	66										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCGGGCTGTGGGCAGCCGGG	0.677000													39	94					0	0	0.006999	0	0
LRP4	4038	broad.mit.edu	37	11	46895138	46895138	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:46895138T>C	ENST00000378623.1	-	29	4478	c.4236A>G	c.(4234-4236)gcA>gcG	p.A1412A	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1412					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGTTCAGGTCTGCTCGCCTTG	0.567000													42	94					0	0	0.002522	0	0
WDR93	56964	broad.mit.edu	37	15	90245001	90245001	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:90245001G>C	ENST00000268130.7	+	2	125	c.24G>C	c.(22-24)caG>caC	p.Q8H	WDR93_ENST00000558000.1_Missense_Mutation_p.Q8H|WDR93_ENST00000560294.1_Missense_Mutation_p.Q8H	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	8					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGGAAGTCAGACCCAGAAAA	0.463000													47	136					0	0	0.003610	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79090340	79090340	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:79090340C>G	ENST00000388820.4	-	3	782	c.572G>C	c.(571-573)aGg>aCg	p.R191T	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	191					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTGTGCCAGCCTCTCCGGGGC	0.647000													29	108					0	0	0.001786	0	0
NALCN	259232	broad.mit.edu	37	13	101759884	101759884	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:101759884T>A	ENST00000251127.6	-	22	2614	c.2533A>T	c.(2533-2535)Agg>Tgg	p.R845W		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	845						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTCTGAACCTGTGTTCTCGC	0.502000													27	55					0	0	0.005443	0	0
RBM19	9904	broad.mit.edu	37	12	114358488	114358488	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:114358488G>C	ENST00000545145.2	-	19	2391	c.2313C>G	c.(2311-2313)ctC>ctG	p.L771L	RBM19_ENST00000261741.5_Silent_p.L771L|RBM19_ENST00000392561.3_Silent_p.L771L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	771	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCATGGAAAGGAGCACTCCTG	0.562000													110	249					0	0	0.003610	0	0
CAPN1	823	broad.mit.edu	37	11	64977856	64977856	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:64977856G>A	ENST00000527323.1	+	19	2232	c.1992G>A	c.(1990-1992)tcG>tcA	p.S664S	CAPN1_ENST00000533129.1_Silent_p.S664S|CAPN1_ENST00000533820.1_Silent_p.S664S|CAPN1_ENST00000524773.1_Silent_p.S664S|CAPN1_ENST00000279247.6_Silent_p.S664S			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	664	Domain IV.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCCGCTACTCGGAGCCCGACC	0.592000													12	21					0	0	0.001855	0	0
POLR2C	5432	broad.mit.edu	37	16	57496641	57496641	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57496641C>T	ENST00000219252.5	+	1	343	c.5C>T	c.(4-6)cCg>cTg	p.P2L	AC009052.12_ENST00000567090.1_RNA|POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	2					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GGCGAGATGCCGTACGCCAAC	0.652000											OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	14					0	0	0.000602	0	0
SPTBN5	51332	broad.mit.edu	37	15	42168429	42168429	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:42168429C>T	ENST00000320955.6	-	21	4232	c.4005G>A	c.(4003-4005)ctG>ctA	p.L1335L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1335					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCGCAGCCATCAGCCCCTTCT	0.627000													11	25					0	0	0.000978	0	0
HMHA1	23526	broad.mit.edu	37	19	1073267	1073267	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:1073267G>T	ENST00000313093.2	+	3	772	c.541G>T	c.(541-543)Ggc>Tgc	p.G181C	HMHA1_ENST00000586866.1_Missense_Mutation_p.G185C|HMHA1_ENST00000536472.1_Missense_Mutation_p.G21C|HMHA1_ENST00000590214.1_Missense_Mutation_p.G208C|HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000539243.2_Missense_Mutation_p.G197C|HMHA1_ENST00000543365.1_Missense_Mutation_p.G64C	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	181					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCGCAGCCGGCACCCTCAT	0.627000													21	57					1.96292e-10	2.55946e-10	0.001523	1	0
SLC36A2	153201	broad.mit.edu	37	5	150701700	150701700	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:150701700C>T	ENST00000335244.4	-	9	1216	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	SLC36A2_ENST00000450886.1_Missense_Mutation_p.E87K|SLC36A2_ENST00000521967.1_Missense_Mutation_p.E363K	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	363					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGATGATTTCTGCAGGGACG	0.552000													25	63					0	0	0.003330	0	0
GABRG3	2567	broad.mit.edu	37	15	27765177	27765177	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:27765177A>T	ENST00000333743.6	+	7	1026	c.772A>T	c.(772-774)Att>Ttt	p.I258F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	258					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATACTTCACCATTCAGACATA	0.353000													6	9					0	0	0.001168	0	0
DLGAP1	9229	broad.mit.edu	37	18	3499238	3499238	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:3499238G>A	ENST00000315677.3	-	13	3474	c.2879C>T	c.(2878-2880)aCc>aTc	p.T960I	DLGAP1_ENST00000581699.1_Missense_Mutation_p.T666I|DLGAP1_ENST00000584874.1_Missense_Mutation_p.T960I|DLGAP1_ENST00000534970.1_Missense_Mutation_p.T644I|DLGAP1_ENST00000539435.1_Missense_Mutation_p.T668I|DLGAP1_ENST00000400150.3_Missense_Mutation_p.T676I|DLGAP1_ENST00000400147.2_Missense_Mutation_p.T658I|DLGAP1_ENST00000400155.1_Missense_Mutation_p.T666I|DLGAP1_ENST00000400149.3_Missense_Mutation_p.T650I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	960					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCGCTCTCGGTGGCCGAGTT	0.731000													9	21					0	0	0.001368	0	0
SRSF1	6426	broad.mit.edu	37	17	56082801	56082801	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:56082801G>A	ENST00000258962.4	-	4	921	c.713C>T	c.(712-714)tCt>tTt	p.S238F	SRSF1_ENST00000582730.2_3'UTR|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000584773.1_Missense_Mutation_p.S238F	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	238	Arg/Ser-rich (RS domain).|Interacts with SAFB1.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGACGGGGAGAATAGCGTGG	0.468000													57	178					0	0	0.003610	0	0
EEF1D	1936	broad.mit.edu	37	8	144668447	144668447	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144668447C>T	ENST00000532741.1	-	3	1607	c.1379G>A	c.(1378-1380)aGc>aAc	p.S460N	EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.S410N|EEF1D_ENST00000442189.2_Missense_Mutation_p.S410N|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Missense_Mutation_p.S44N|EEF1D_ENST00000419152.2_Missense_Mutation_p.S44N|EEF1D_ENST00000529272.1_Missense_Mutation_p.S44N|EEF1D_ENST00000317198.6_Missense_Mutation_p.S44N|EEF1D_ENST00000395119.3_Missense_Mutation_p.S44N|EEF1D_ENST00000528610.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	44					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GAGGATCACGCTGGCGCCGTT	0.498000													13	18					0	0	0.002450	0	0
CENPB	1059	broad.mit.edu	37	20	3766484	3766484	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:3766484C>T	ENST00000379751.4	-	1	853	c.647G>A	c.(646-648)gGa>gAa	p.G216E		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	216					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ACGCGGCCGTCCGTCGCCTCC	0.706000													32	116					0	0	0.003755	0	0
NR1D2	9975	broad.mit.edu	37	3	24018855	24018855	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:24018855G>T	ENST00000312521.4	+	8	2004	c.1685G>T	c.(1684-1686)cGa>cTa	p.R562L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	562					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CCAGATCTTCGATCTTTAAAC	0.373000													47	108					9.55421e-19	1.29184e-18	0.003610	1	0
ECT2L	345930	broad.mit.edu	37	6	139164270	139164270	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:139164270C>T	ENST00000423192.1	+	5	658	c.497C>T	c.(496-498)aCg>aTg	p.T166M	ECT2L_ENST00000367682.2_Missense_Mutation_p.T166M|ECT2L_ENST00000541398.1_Missense_Mutation_p.T97M			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	166					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ACTTATGGGACGCTGAATGAA	0.458000			"""N, Splice, Mis"""		ETP ALL								40	52					0	0	0.006999	0	0
MROH2B	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:41009477C>T	ENST00000399564.4	-	32	3775	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCTGGCTTTTCAGCCAGCGCC	0.498000													49	121					0	0	0.003610	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555300	155555300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:155555300C>T	ENST00000295101.2	+	1	490	c.13C>T	c.(13-15)Cga>Tga	p.R5*	KCNJ3_ENST00000544049.1_Nonsense_Mutation_p.R5*	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	5					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GTCTGCACTCCGAAGGAAATT	0.602000													48	50					0	0	0.003610	0	0
GAS7	8522	broad.mit.edu	37	17	10101629	10101629	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:10101629C>T	ENST00000432992.2	-	1	239	c.79G>A	c.(79-81)Gag>Aag	p.E27K	GAS7_ENST00000540214.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	27	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTGATCAGCTCGCCCGCGGCG	0.721000			T	MLL	AML*								18	56					0	0	0.007413	0	0
MS4A2	2206	broad.mit.edu	37	11	59863129	59863129	+	Nonstop_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:59863129A>C	ENST00000278888.3	+	7	837	c.735A>C	c.(733-735)taA>taC	p.*245Y		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	0					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TTGATTTATAAGAATCACGTG	0.428000													10	30					0	0	0.008291	0	0
RBM46	166863	broad.mit.edu	37	4	155749131	155749131	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:155749131G>A	ENST00000281722.3	+	5	1749	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	505							nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TCTTATCCAGGCTATCCTTTG	0.453000													59	176					0	0	0.003610	0	0
MYLK	4638	broad.mit.edu	37	3	123367843	123367843	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:123367843A>T	ENST00000360772.3	-	27	4768	c.4390T>A	c.(4390-4392)Tac>Aac	p.Y1464N	MYLK_ENST00000354792.5_Missense_Mutation_p.Y264N|MYLK_ENST00000346322.5_Missense_Mutation_p.Y1395N|MYLK_ENST00000359169.1_Missense_Mutation_p.Y1464N|MYLK_ENST00000475616.1_Missense_Mutation_p.Y1464N|MYLK_ENST00000360304.3_Missense_Mutation_p.Y1464N			Q15746	MYLK_HUMAN	myosin light chain kinase	1464	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAATGTCGTAGAAGTCAGAT	0.517000													28	114					0	0	0.007291	0	0
ZNF708	7562	broad.mit.edu	37	19	21493399	21493399	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:21493399C>T	ENST00000356929.3	-	2	231	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AGAGAGAATTCTATGGCCACA	0.398000													33	109					0	0	0.002836	0	0
YME1L1	10730	broad.mit.edu	37	10	27415685	27415685	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:27415685C>A	ENST00000326799.3	-	10	1208	c.1060G>T	c.(1060-1062)Gtt>Ttt	p.V354F	YME1L1_ENST00000375972.3_Missense_Mutation_p.V264F|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Missense_Mutation_p.V297F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	354					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AATTCAACAACTTCCTGTAAT	0.318000													7	45					8.12818e-05	0.000101834	0.001984	1	0
MAGI3	260425	broad.mit.edu	37	1	114196636	114196636	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:114196636A>G	ENST00000369615.1	+	15	2687	c.2625A>G	c.(2623-2625)ccA>ccG	p.P875P	MAGI3_ENST00000307546.9_Silent_p.P875P|MAGI3_ENST00000369611.4_Silent_p.P875P|MAGI3_ENST00000369617.4_Silent_p.P900P	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	900					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCACCTCCAGGAGGTAAGG	0.443000													71	185					0	0	0.003610	0	0
TONSL	4796	broad.mit.edu	37	8	145660258	145660258	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145660258C>T	ENST00000409379.3	-	20	3050	c.3021G>A	c.(3019-3021)gtG>gtA	p.V1007V		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1007					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCCACGAAGTCACCTCAGCCA	0.667000													12	60					0	0	0.001368	0	0
PAXBP1	94104	broad.mit.edu	37	21	34131446	34131446	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:34131446A>C	ENST00000331923.4	-	7	1517	c.1328T>G	c.(1327-1329)tTt>tGt	p.F443C	PAXBP1_ENST00000472588.1_5'UTR|PAXBP1_ENST00000290178.4_Missense_Mutation_p.F443C	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TTCTTGCAAAAATTTATACCG	0.408000													64	156					0	0	0.003610	0	0
LRRC7	57554	broad.mit.edu	37	1	70504742	70504742	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:70504742G>A	ENST00000310961.5	+	22	3554	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	LRRC7_ENST00000415775.2_Missense_Mutation_p.E325K|LRRC7_ENST00000035383.5_Missense_Mutation_p.E1041K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1041						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGGATCAGTGGAAGTGAAAGC	0.448000													13	48					0	0	0.001368	0	0
COQ9	57017	broad.mit.edu	37	16	57492236	57492236	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57492236C>G	ENST00000262507.6	+	6	754	c.685C>G	c.(685-687)Cat>Gat	p.H229D	COQ9_ENST00000567933.1_Intron|COQ9_ENST00000567072.1_Missense_Mutation_p.H194D	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	229					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGACATGTGGCATTACGCTGG	0.547000													4	7					0	0	0.000602	0	0
LPA	4018	broad.mit.edu	37	6	160953592	160953592	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:160953592G>C	ENST00000447678.1	-	39	6052	c.5932C>G	c.(5932-5934)Cat>Gat	p.H1978D	LPA_ENST00000316300.5_Missense_Mutation_p.H1978D	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4486	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGCCAAATGCTCAGCACAA	0.458000													22	43					0	0	0.001523	0	0
ACOT9	23597	broad.mit.edu	37	X	23748661	23748661	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:23748661T>A	ENST00000379303.5	-	6	511	c.383A>T	c.(382-384)gAt>gTt	p.D128V	ACOT9_ENST00000379295.1_Missense_Mutation_p.D59V|ACOT9_ENST00000492081.1_Missense_Mutation_p.D59V|ACOT9_ENST00000336430.7_Missense_Mutation_p.D119V	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	119					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						GCTGTCAAGATCCTCAAGAAT	0.348000													55	42					0	0	0.003610	0	0
WRAP73	49856	broad.mit.edu	37	1	3548889	3548889	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:3548889A>G	ENST00000378322.3	-	10	994	c.936T>C	c.(934-936)tcT>tcC	p.S312S	WRAP73_ENST00000270708.7_Silent_p.S312S			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	312						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGACTGGGACAGAGGCGATCT	0.537000													26	86					0	0	0.008361	0	0
FAT4	79633	broad.mit.edu	37	4	126370445	126370445	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:126370445A>C	ENST00000394329.3	+	9	8287	c.8274A>C	c.(8272-8274)aaA>aaC	p.K2758N	FAT4_ENST00000335110.5_Missense_Mutation_p.K1056N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2758	Cadherin 26.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCAGTAAAAGTCATGATTA	0.378000													29	109					0	0	0.006320	0	0
HK1	3098	broad.mit.edu	37	10	71129055	71129055	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:71129055C>T	ENST00000448642.2	+	11	1148	c.759C>T	c.(757-759)ggC>ggT	p.G253G	HK1_ENST00000360289.2_Silent_p.G206G|HK1_ENST00000359426.6_Silent_p.G218G|HK1_ENST00000298649.3_Silent_p.G217G|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.G222G			P19367	HXK1_HUMAN	hexokinase 1	218	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGACCTGTGGCTATGACGACC	0.537000													18	58					0	0	0.002299	0	0
POLR1A	25885	broad.mit.edu	37	2	86325857	86325857	+	Silent	SNP	A	A	C	rs36023304		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:86325857A>C	ENST00000263857.6	-	3	687	c.309T>G	c.(307-309)tcT>tcG	p.S103S	POLR1A_ENST00000409681.1_Silent_p.S103S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	103					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGTTTAAACAAGAGCCCCGAA	0.498000													80	47					0	0	0.003610	0	0
C16orf62	57020	broad.mit.edu	37	16	19656273	19656273	+	Splice_Site	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:19656273T>C	ENST00000438132.3	+	23	2244		c.e23+2		C16orf62_ENST00000251143.5_Splice_Site|C16orf62_ENST00000543152.1_Splice_Site|C16orf62_ENST00000448695.1_Splice_Site|C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000417362.2_Splice_Site	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ATAAAAATGGTAAGTATTAGG	0.338000													16	51					0	0	0.006122	0	0
APH1B	83464	broad.mit.edu	37	15	63579740	63579740	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:63579740A>G	ENST00000261879.5	+	4	543	c.473A>G	c.(472-474)tAt>tGt	p.Y158C	APH1B_ENST00000380343.4_Intron	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	158					apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						TTCTTCCTTTATTCAGGTATG	0.423000													85	188					0	0	0.003610	0	0
GNS	2799	broad.mit.edu	37	12	65116858	65116858	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:65116858G>T	ENST00000258145.3	-	11	1406	c.1236C>A	c.(1234-1236)gtC>gtA	p.V412V	GNS_ENST00000543646.1_Silent_p.V444V|GNS_ENST00000542058.1_Silent_p.V392V|GNS_ENST00000418919.2_Silent_p.V356V	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	412						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ATTCCACCAGGACATCTGATC	0.453000													33	82					9.8876e-21	1.34401e-20	0.004878	1	0
TLR5	7100	broad.mit.edu	37	1	223285245	223285245	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:223285245C>T	ENST00000540964.1	-	4	1590	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	TLR5_ENST00000342210.6_Missense_Mutation_p.D377N			O60602	TLR5_HUMAN	toll-like receptor 5	377					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AATGTTTGGTCTTGAATTATT	0.368000													25	88					0	0	0.002780	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355551	45355551	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:45355551G>A	ENST00000359271.2	+	3	1587	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	446						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ATACGAGGAAGAGCCTTCGCC	0.592000													48	137					0	0	0.003214	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43989514	43989514	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:43989514A>C	ENST00000282406.4	+	28	4253	c.4143A>C	c.(4141-4143)ttA>ttC	p.L1381F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1381	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAAGCCTCTTAGAATACAACT	0.368000													58	38					0	0	0.003610	0	0
MUC3A	4584	broad.mit.edu	37	7	100606746	100606746	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:100606746G>T	ENST00000319509.7	+	4	1836	c.1836G>T	c.(1834-1836)aaG>aaT	p.K612N						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGATGCAGAAGATTTTTGCAG	0.582000													11	17					1.58986e-06	2.01488e-06	0.008291	1	0
JUP	3728	broad.mit.edu	37	17	39925391	39925391	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:39925391C>T	ENST00000393931.3	-	4	655	c.537G>A	c.(535-537)ctG>ctA	p.L179L	JUP_ENST00000393930.1_Silent_p.L179L|JUP_ENST00000540235.1_Silent_p.L179L|JUP_ENST00000310706.5_Silent_p.L179L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	179					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGAGCCCATCAGGGCCCGCC	0.657000													16	42					0	0	0.004007	0	0
EVPL	2125	broad.mit.edu	37	17	74003727	74003727	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74003727G>A	ENST00000301607.3	-	22	5812	c.5559C>T	c.(5557-5559)atC>atT	p.I1853I	EVPL_ENST00000586740.1_Silent_p.I1875I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1853	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTGCCCAGTGATGGGGTCCA	0.612000													58	155					0	0	0.003610	0	0
TRIM58	25893	broad.mit.edu	37	1	248020677	248020677	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:248020677C>T	ENST00000366481.3	+	1	177	c.129C>T	c.(127-129)ttC>ttT	p.F43F		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	43						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTCCGAGTTCTGCGAGAAGT	0.711000													6	14					0	0	0.003080	0	0
ABHD6	57406	broad.mit.edu	37	3	58255096	58255096	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:58255096G>A	ENST00000478253.1	+	5	826	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ABHD6_ENST00000295962.4_Missense_Mutation_p.E109K			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	109						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GCCAGGACATGAGGGCACCAC	0.532000													13	31					0	0	0.007413	0	0
FRYL	285527	broad.mit.edu	37	4	48578237	48578237	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:48578237C>T	ENST00000537810.1	-	24	3135	c.2531G>A	c.(2530-2532)aGc>aAc	p.S844N	FRYL_ENST00000358350.4_Missense_Mutation_p.S844N|FRYL_ENST00000507711.1_Missense_Mutation_p.S844N|FRYL_ENST00000503238.1_Missense_Mutation_p.S844N|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTGATGGGGCTACTAAGGAA	0.333000													20	65					0	0	0.002780	0	0
SHANK1	50944	broad.mit.edu	37	19	51169762	51169762	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:51169762C>G	ENST00000293441.1	-	22	5473	c.5455G>C	c.(5455-5457)Gag>Cag	p.E1819Q	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.E1810Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.E1827Q|SHANK1_ENST00000391813.1_Missense_Mutation_p.E1206Q	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1819					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.E1819Q(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACTTCTGGCTCTACAGCCACC	0.726000													7	14					0	0	0.001984	0	0
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388000													16	46					0	0	0.004990	0	0
PRDM8	56978	broad.mit.edu	37	4	81123531	81123531	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:81123531C>T	ENST00000339711.4	+	10	2146	c.915C>T	c.(913-915)atC>atT	p.I305I	PRDM8_ENST00000415738.2_Silent_p.I305I|PRDM8_ENST00000504452.1_Silent_p.I305I	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	305	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCGACGGCATCGCCACGGGCG	0.746000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	17					0	0	0.003080	0	0
TAOK2	9344	broad.mit.edu	37	16	29994162	29994162	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:29994162G>A	ENST00000308893.4	+	11	1982	c.939G>A	c.(937-939)aaG>aaA	p.K313K	TAOK2_ENST00000543033.1_Silent_p.K313K|TAOK2_ENST00000279394.3_Silent_p.K313K|TAOK2_ENST00000416441.2_Silent_p.K140K	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	313					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						GCAAGATGAAGAAGATCCTGT	0.602000													36	97					0	0	0.004289	0	0
KMT2C	58508	broad.mit.edu	37	7	151864230	151864230	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:151864230C>T	ENST00000355193.2	-	42	9969		c.e42+1		KMT2C_ENST00000262189.6_Splice_Site					lysine (K)-specific methyltransferase 2C																		CTATTTATTACCTGTTCTAGC	0.368000													18	57					0	0	0.004990	0	0
CYB5D1	124637	broad.mit.edu	37	17	7761743	7761743	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:7761743C>T	ENST00000332439.4	+	2	335	c.183C>T	c.(181-183)atC>atT	p.I61I	LSMD1_ENST00000570555.1_5'UTR|CYB5D1_ENST00000570446.1_Intron|CYB5D1_ENST00000571846.1_Silent_p.I61I|LSMD1_ENST00000576861.1_Intron	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	61	Cytochrome b5 heme-binding.						heme binding			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				TGAAACCCATCGTGGAAGTTG	0.542000											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	31					0	0	0.006320	0	0
UFSP2	55325	broad.mit.edu	37	4	186324770	186324770	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:186324770C>T	ENST00000264689.6	-	11	1317	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	401						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		AAAACTCCTCCCCCTATAGAA	0.413000													19	63					0	0	0.007413	0	0
DST	667	broad.mit.edu	37	6	56471201	56471201	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:56471201G>A	ENST00000370754.5	-	39	8125	c.8126C>T	c.(8125-8127)aCt>aTt	p.T2709I	DST_ENST00000361203.3_Missense_Mutation_p.T2531I|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Missense_Mutation_p.T2531I|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.T2531I|DST_ENST00000446842.2_Missense_Mutation_p.T2205I|DST_ENST00000244364.6_Intron			Q03001	DYST_HUMAN	dystonin	2531					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCATAATCAGTCAATGAGTC	0.403000													43	33					0	0	0.003610	0	0
TRIM42	287015	broad.mit.edu	37	3	140397361	140397361	+	Missense_Mutation	SNP	G	G	A	rs144112519		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:140397361G>A	ENST00000286349.3	+	1	481	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	97						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCTGCTGCCGCAATACCATC	0.542000													22	41					0	0	0.002780	0	0
RNF112	7732	broad.mit.edu	37	17	19316617	19316617	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:19316617A>C	ENST00000461366.1	+	5	828	c.613A>C	c.(613-615)Aga>Cga	p.R205R	RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	205							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGGCCGGCCAAGAGGAGGAGA	0.637000													22	50					0	0	0.002299	0	0
COL7A1	1294	broad.mit.edu	37	3	48618755	48618755	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:48618755C>T	ENST00000328333.8	-	51	4944	c.4837G>A	c.(4837-4839)Gga>Aga	p.G1613R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1613R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1613	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTTCTCTCCAGGAGGCCCT	0.652000													16	31					0	0	0.004990	0	0
CAMTA1	23261	broad.mit.edu	37	1	7806147	7806147	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:7806147A>G	ENST00000303635.7	+	18	4820	c.4613A>G	c.(4612-4614)tAc>tGc	p.Y1538C	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Y1524C|CAMTA1_ENST00000476864.1_Missense_Mutation_p.Y102C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCCGGAAATACAAGGTAAAC	0.413000			T	WWTR1	epitheliod hemangioendothelioma								22	67					0	0	0.002299	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444355	84444355	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:84444355C>T	ENST00000416219.2	+	6	588	c.499C>T	c.(499-501)Cct>Tct	p.P167S	ATP2C2_ENST00000420010.2_Intron|ATP2C2_ENST00000262429.4_Missense_Mutation_p.P167S			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	167					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAAGATGGTTCCTCCAGAATG	0.507000													23	73					0	0	0.002299	0	0
HELQ	113510	broad.mit.edu	37	4	84364763	84364763	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:84364763C>T	ENST00000295488.3	-	6	1632	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	HELQ_ENST00000510985.1_Silent_p.T423T	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	490	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAATTTGAGTCGTTTCTAAAA	0.289000								Other identified genes with known or suspected DNA repair function					15	30					0	0	0.002450	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941247	37941247	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:37941247G>T	ENST00000373087.6	+	2	266	c.150G>T	c.(148-150)atG>atT	p.M50I		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	50					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACTGCAGATGAAGGTGGACT	0.622000													17	64					1.67942e-08	2.16045e-08	0.006122	1	0
MYOM3	127294	broad.mit.edu	37	1	24401849	24401849	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:24401849G>T	ENST00000330966.7	-	22	2983	c.2821C>A	c.(2821-2823)Ctg>Atg	p.L941M	RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.L940M|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.L940M			Q5VTT5	MYOM3_HUMAN	myomesin 3	940										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGGGGTCCAGTGGGCCCTTG	0.512000													53	146					3.31993e-32	4.60235e-32	0.003610	1	0
ARHGEF26	26084	broad.mit.edu	37	3	153847391	153847391	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:153847391G>A	ENST00000356448.4	+	4	1436	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	ARHGEF26_ENST00000465817.1_Silent_p.K384K|ARHGEF26_ENST00000465093.1_Silent_p.K384K	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	384					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAAACTACAAGGAAAAGGCCC	0.363000													7	16					0	0	0.003080	0	0
PRX	57716	broad.mit.edu	37	19	40901699	40901699	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:40901699G>A	ENST00000324001.7	-	7	2830	c.2560C>T	c.(2560-2562)Ctg>Ttg	p.L854L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	854					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGAAGGCAGAGTGAGAGAG	0.632000													26	90					0	0	0.004656	0	0
FZD1	8321	broad.mit.edu	37	7	90895380	90895380	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:90895380G>A	ENST00000287934.2	+	1	1598	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	395					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTGGCGCAGGGCACCAAGA	0.612000													33	91					0	0	0.002096	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907052	164907052	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:164907052C>G	ENST00000475390.1	-	2	2010	c.1567G>C	c.(1567-1569)Gcc>Ccc	p.A523P	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A523P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	523						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGCAAAGGCGTCTGTTGGC	0.522000										HNSCC(40;0.11)			19	52					0	0	0.007413	0	0
OR11L1	391189	broad.mit.edu	37	1	248004726	248004726	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:248004726A>T	ENST00000355784.2	-	1	528	c.473T>A	c.(472-474)cTg>cAg	p.L158Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGGGAAGGCAGAAAGCCTGT	0.577000													33	103					0	0	0.002836	0	0
HSPA8	3312	broad.mit.edu	37	11	122929535	122929535	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:122929535A>G	ENST00000534624.1	-	7	1603	c.1327T>C	c.(1327-1329)Tat>Cat	p.Y443H	HSPA8_ENST00000534319.1_Missense_Mutation_p.Y207H|HSPA8_ENST00000227378.3_Missense_Mutation_p.Y443H|HSPA8_ENST00000532636.1_Missense_Mutation_p.Y443H|HSPA8_ENST00000526110.1_Missense_Mutation_p.Y424H|HSPA8_ENST00000453788.2_Missense_Mutation_p.Y443H|HSPA8_ENST00000533540.1_Missense_Mutation_p.Y297H	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	443					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCGCCTTCATAAACCTTGGTA	0.473000													18	34					0	0	0.006122	0	0
WEE2	494551	broad.mit.edu	37	7	141427156	141427156	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:141427156G>A	ENST00000397541.2	+	10	1851	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000478332.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	482	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GCTCTGGCCAGAAATACAGTT	0.458000													57	174					0	0	0.003610	0	0
NIPBL	25836	broad.mit.edu	37	5	37059268	37059268	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:37059268G>A	ENST00000282516.8	+	44	8184		c.e44+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCTGATAGGTAAGGTTACA	0.358000													18	77					0	0	0.004990	0	0
GNPDA2	132789	broad.mit.edu	37	4	44709782	44709782	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:44709782C>T	ENST00000509756.1	-	6	862	c.756G>A	c.(754-756)gtG>gtA	p.V252V	GNPDA2_ENST00000507917.1_Silent_p.V218V|GNPDA2_ENST00000511187.1_5'UTR|GNPDA2_ENST00000507534.1_Silent_p.V182V|GNPDA2_ENST00000295448.3_Silent_p.V252V			Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	252					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TAAAGTATTTCACAGTTTTAA	0.388000													10	21					0	0	0.001368	0	0
TENM4	26011	broad.mit.edu	37	11	78369287	78369287	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:78369287C>G	ENST00000278550.7	-	34	8588	c.8126G>C	c.(8125-8127)aGa>aCa	p.R2709T		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TTCCCGCAGTCTCTGCTGCTC	0.667000													19	65					0	0	0.001523	0	0
YTHDC1	91746	broad.mit.edu	37	4	69196015	69196015	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:69196015G>A	ENST00000344157.4	-	8	1471	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	YTHDC1_ENST00000579690.1_Missense_Mutation_p.T379M|YTHDC1_ENST00000355665.3_Missense_Mutation_p.T361M	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	379	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TACAGGGAGCGTGGACCATAC	0.318000													13	26					0	0	0.003163	0	0
ARL4A	10124	broad.mit.edu	37	7	12728009	12728009	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:12728009G>C	ENST00000396663.1	+	2	612	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q	ARL4A_ENST00000396664.2_Missense_Mutation_p.E44Q|ARL4A_ENST00000396662.1_Missense_Mutation_p.E44Q|ARL4A_ENST00000404894.1_Missense_Mutation_p.E44Q|ARL4A_ENST00000356797.3_Missense_Mutation_p.E44Q	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	44					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GCAGTTCAATGAATTTGTAAA	0.393000													16	51					0	0	0.008871	0	0
BIRC6	57448	broad.mit.edu	37	2	32738069	32738069	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32738069G>T	ENST00000421745.2	+	54	10550	c.10416G>T	c.(10414-10416)atG>atT	p.M3472I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3472					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGCAGGATGAACTACATGT	0.418000													54	45					1.11015e-26	1.53069e-26	0.003610	1	0
APOA1BP	128240	broad.mit.edu	37	1	156561602	156561602	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156561602C>T	ENST00000368235.3	+	1	49	c.6C>T	c.(4-6)tcC>tcT	p.S2S	APOA1BP_ENST00000368233.3_Silent_p.S2S|APOA1BP_ENST00000368234.3_Silent_p.S2S	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	2						extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTGGATGTCCAGGCTGCGGG	0.776000													3	14					0	0	0.004672	0	0
TRAF4	9618	broad.mit.edu	37	17	27076071	27076071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:27076071C>T	ENST00000262395.5	+	7	1018	c.889C>T	c.(889-891)Cga>Tga	p.R297*	TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Nonsense_Mutation_p.R297*	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	297					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GGAGCTTCGGCGAGAGCTGGA	0.617000													34	63					0	0	0.003271	0	0
CRTC3	64784	broad.mit.edu	37	15	91172733	91172733	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:91172733C>A	ENST00000420329.2	+	11	1382	c.1235C>A	c.(1234-1236)aCc>aAc	p.T412N	CRTC3_ENST00000268184.6_Missense_Mutation_p.T412N|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	412					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTGTCTTCAACCAGCCCACTG	0.567000			T	MAML2	salivary gland mucoepidermoid								44	116					9.42957e-07	1.19701e-06	0.007835	1	0
HNRNPD	3184	broad.mit.edu	37	4	83280703	83280703	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:83280703G>A	ENST00000313899.7	-	3	657	c.380C>T	c.(379-381)aCt>aTt	p.T127I	HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Missense_Mutation_p.T108I|HNRNPD_ENST00000543098.1_Missense_Mutation_p.T75I|HNRNPD_ENST00000353341.4_Missense_Mutation_p.T127I	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	127	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TAACTTCAGAGTGCAGTCTAC	0.408000													28	84					0	0	0.006320	0	0
PLXNA4	91584	broad.mit.edu	37	7	132069999	132069999	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:132069999T>C	ENST00000423507.2	-	4	1561	c.1427A>G	c.(1426-1428)cAc>cGc	p.H476R	PLXNA4_ENST00000359827.3_Intron|PLXNA4_ENST00000321063.4_Intron	NM_001105543.1	NP_001099013.1	Q9HCM2	PLXA4_HUMAN	plexin A4	1024	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTTGCTCTGTGGGATCGGGG	0.498000													26	78					0	0	0.007291	0	0
NSRP1	84081	broad.mit.edu	37	17	28506137	28506137	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:28506137A>G	ENST00000247026.5	+	5	393	c.330A>G	c.(328-330)gcA>gcG	p.A110A	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	110	Necessary for alternative splicing activity.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						TGCTAAAAGCAGTTGAGATCA	0.284000													7	17					0	0	0.006214	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999257	46999257	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:46999257G>A	ENST00000374314.4	+	1	1332	c.377G>A	c.(376-378)cGt>cAt	p.R126H	GPRIN2_ENST00000374317.1_Missense_Mutation_p.R126H			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	126										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GACCTGGTCCGTAGCACCCAG	0.642000													8	55					0	0	0.003080	0	0
EFCAB13	124989	broad.mit.edu	37	17	45455230	45455230	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:45455230G>A	ENST00000331493.2	+	13	1882	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E395K	NM_152347.4	NP_689560.3			EF-hand calcium binding domain 13																		TTTATTAGATGAAGAATTCCA	0.323000													22	71					0	0	0.002780	0	0
ARSB	411	broad.mit.edu	37	5	78280775	78280775	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:78280775G>A	ENST00000264914.4	-	1	833	c.297C>T	c.(295-297)ctC>ctT	p.L99L	ARSB_ENST00000565165.1_Silent_p.L99L|ARSB_ENST00000396151.3_Silent_p.L99L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	99					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		AGCGGCCAGTGAGCAGCTGGC	0.781000													5	10					0	0	0.000602	0	0
NFATC2IP	84901	broad.mit.edu	37	16	28963486	28963486	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28963486C>G	ENST00000320805.4	+	2	496	c.421C>G	c.(421-423)Cta>Gta	p.L141V	NFATC2IP_ENST00000564978.1_5'UTR|NFATC2IP_ENST00000562977.1_3'UTR	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	141						cytoplasm|nucleus				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CCCAGATGATCTATCCCTCCT	0.542000													48	106					0	0	0.003610	0	0
CDC25C	995	broad.mit.edu	37	5	137622194	137622194	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:137622194G>A	ENST00000323760.6	-	12	1430	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	CDC25C_ENST00000348983.3_Silent_p.G311G|CDC25C_ENST00000513970.1_Silent_p.G384G|CDC25C_ENST00000356505.3_Silent_p.G354G|CDC25C_ENST00000514555.1_Silent_p.G354G|CDC25C_ENST00000415130.2_Silent_p.G311G|CDC25C_ENST00000357274.3_Silent_p.G341G	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	384	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACATTCGGGGGCCCCTCTCTG	0.478000													43	97					0	0	0.002222	0	0
KIFC2	90990	broad.mit.edu	37	8	145697774	145697774	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145697774C>T	ENST00000301332.2	+	15	2015	c.1638C>T	c.(1636-1638)cgC>cgT	p.R546R	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	546	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTCCCGAGCGCCTGGCCGTGA	0.662000													18	42					0	0	0.004990	0	0
ATP2A1	487	broad.mit.edu	37	16	28914209	28914209	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28914209C>T	ENST00000395503.4	+	19	2905	c.2721C>T	c.(2719-2721)atC>atT	p.I907I	ATP2A1_ENST00000536376.1_Silent_p.I782I|ATP2A1_ENST00000357084.3_Silent_p.I907I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	907					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGTGACCATCGAGATGTGCA	0.637000													16	30					0	0	0.003163	0	0
CAPRIN1	4076	broad.mit.edu	37	11	34110948	34110948	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:34110948C>G	ENST00000341394.4	+	12	1427	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.S413C|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.S332C|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.S413C|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.S413C	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	413					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCAGTTCATTCTGAATCTAGA	0.368000													26	49					0	0	0.007291	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22592136	22592136	+	RNA	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:22592136A>G	ENST00000390455.3	+	0	430																											AATGAAACCAATGAAATGGCC	0.458000													9	39					0	0	0.006214	0	0
INTS2	57508	broad.mit.edu	37	17	59999159	59999159	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:59999159G>A	ENST00000444766.3	-	4	561	c.486C>T	c.(484-486)ttC>ttT	p.F162F	INTS2_ENST00000251334.6_Silent_p.F154F	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	162					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CAGAAGACTTGAAAAAAAATT	0.299000													15	52					0	0	0.007413	0	0
CNTRL	11064	broad.mit.edu	37	9	123852674	123852674	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:123852674G>A	ENST00000373855.1	+	4	599	c.339G>A	c.(337-339)aaG>aaA	p.K113K	CNTRL_ENST00000373865.2_Silent_p.K113K|CNTRL_ENST00000238341.5_Silent_p.K113K			Q7Z7A1	CNTRL_HUMAN	centriolin	113					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACGGTGGCAAGAAATTTAAGG	0.313000													53	45					0	0	0.003610	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6436472	6436472	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:6436472G>T	ENST00000449001.2	+	14	2121	c.1627G>T	c.(1627-1629)Gat>Tat	p.D543Y	PLEKHG6_ENST00000304581.8_Missense_Mutation_p.D105Y|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.D575Y|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.D575Y	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	575					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGAAGACACAGATGAAGATGC	0.557000											OREG0021622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	159					3.85841e-42	5.38775e-42	0.003610	1	0
C9	735	broad.mit.edu	37	5	39341658	39341658	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:39341658C>T	ENST00000263408.4	-	3	423	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	110	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAAAGATTACCTGTACTGCAT	0.463000													20	86					0	0	0.002780	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443793	81443793	+	RNA	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:81443793G>T	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GAGGAGGAGGGCCTGTCTCTG	0.617000													18	19					3.41278e-10	4.4424e-10	0.004990	1	0
SVOPL	136306	broad.mit.edu	37	7	138312175	138312175	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:138312175G>A	ENST00000421622.1	-	8	949	c.741C>T	c.(739-741)ttC>ttT	p.F247F	SVOPL_ENST00000419765.3_Silent_p.F367F|SVOPL_ENST00000288513.5_Silent_p.F215F|SVOPL_ENST00000436657.1_Silent_p.F215F|SVOPL_ENST00000463557.1_5'UTR			Q8N434	SVOPL_HUMAN	SVOP-like	367						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GTCTTCCCAGGAAATTGATGC	0.403000													6	23					0	0	0.001984	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636436	43636436	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:43636436C>T	ENST00000431635.2	-	5	751	c.603G>A	c.(601-603)caG>caA	p.Q201Q	EBNA1BP2_ENST00000236051.2_Silent_p.Q146Q	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	146					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTCTGCATCTGCAGATCAG	0.453000													48	180					0	0	0.003610	0	0
CNST	163882	broad.mit.edu	37	1	246810471	246810471	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:246810471G>T	ENST00000366513.4	+	9	1237	c.968G>T	c.(967-969)aGt>aTt	p.S323I	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.S323I	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	323					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACAGAGTCAAGTAAAGAAAGC	0.428000											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	85					1.5548e-18	2.09122e-18	0.005443	1	0
ZNF101	94039	broad.mit.edu	37	19	19790184	19790184	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:19790184G>T	ENST00000592502.1	+	4	496	c.386G>T	c.(385-387)cGa>cTa	p.R129L	ZNF101_ENST00000415784.2_Missense_Mutation_p.R9L|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R129Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GGACACAAACGATCTGAGTGT	0.522000													28	62					1.5548e-18	2.09122e-18	0.005443	1	0
UPF1	5976	broad.mit.edu	37	19	18965703	18965703	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:18965703G>A	ENST00000262803.5	+	10	1553	c.1281G>A	c.(1279-1281)ttG>ttA	p.L427L	UPF1_ENST00000599848.1_Silent_p.L438L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	438					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGAGCGCATTGAAAACGTTTG	0.587000													16	37					0	0	0.004990	0	0
XPO1	7514	broad.mit.edu	37	2	61724137	61724137	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:61724137C>T	ENST00000401558.2	-	10	1492	c.765G>A	c.(763-765)ctG>ctA	p.L255L	XPO1_ENST00000404992.2_Silent_p.L255L|XPO1_ENST00000406957.1_Silent_p.L255L	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	255	Necessary for HTLV-1 Rex-mediated mRNA export.				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)			TTGGAACATTCAGGAACTATT	0.348000			Mis		CLL								47	24					0	0	0.003610	0	0
KCTD19	146212	broad.mit.edu	37	16	67323569	67323569	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:67323569G>T	ENST00000304372.5	-	16	2739	c.2684C>A	c.(2683-2685)gCc>gAc	p.A895D		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	895						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATATTTCCTGGCGAAGGGCAG	0.542000													15	64					0.000219431	0.000274022	0.002450	1	0
ACLY	47	broad.mit.edu	37	17	40025748	40025748	+	Silent	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:40025748T>A	ENST00000352035.2	-	26	3160	c.3030A>T	c.(3028-3030)gtA>gtT	p.V1010V	ACLY_ENST00000537919.1_Silent_p.V739V|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000353196.1_Silent_p.V1000V|ACLY_ENST00000393896.2_Silent_p.V1000V|ACLY_ENST00000590151.1_Silent_p.V1010V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1010					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TAATCTTCTCTACTTCCAGTG	0.438000													45	107					0	0	0.003610	0	0
EXPH5	23086	broad.mit.edu	37	11	108464258	108464258	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:108464258C>T	ENST00000265843.4	-	1	116	c.6G>A	c.(4-6)acG>acA	p.T2T	EXPH5_ENST00000525344.1_Intron	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	2					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAGGAACTTTCGTCATTTTCT	0.458000													17	38					0	0	0.004990	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77509952	77509952	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:77509952C>G	ENST00000477717.1	+	3	560	c.325C>G	c.(325-327)Cgg>Ggg	p.R109G		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	109					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCTGCACAGTCGGCAAGGCTC	0.617000													16	69					0	0	0.004990	0	0
ZNF180	7733	broad.mit.edu	37	19	44980836	44980836	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:44980836G>C	ENST00000221327.4	-	5	2143	c.1862C>G	c.(1861-1863)aCt>aGt	p.T621S	ZNF180_ENST00000391956.4_Missense_Mutation_p.T596S|ZNF180_ENST00000592529.1_Missense_Mutation_p.T594S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTGATGTTGAGTAAGGCATGA	0.398000													43	89					0	0	0.006999	0	0
EPG5	57724	broad.mit.edu	37	18	43487976	43487976	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:43487976G>A	ENST00000282041.5	-	24	4310	c.4276C>T	c.(4276-4278)Cta>Tta	p.L1426L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1426					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGCTTTGGTAGAGAAGGGATA	0.308000													47	124					0	0	0.003610	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661283	50661283	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:50661283G>A	ENST00000371824.1	+	5	816	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	ELAVL4_ENST00000371827.1_Missense_Mutation_p.E187K|ELAVL4_ENST00000371821.1_Missense_Mutation_p.E192K|ELAVL4_ENST00000357083.4_Missense_Mutation_p.E204K|ELAVL4_ENST00000371819.1_Missense_Mutation_p.E192K|ELAVL4_ENST00000448907.2_Missense_Mutation_p.E190K|ELAVL4_ENST00000371823.4_Missense_Mutation_p.E187K			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	187	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GATTGAGGCAGAAGAAGCCAT	0.522000													41	108					0	0	0.002222	0	0
CHMP6	79643	broad.mit.edu	37	17	78970862	78970862	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:78970862A>G	ENST00000325167.5	+	5	482	c.404A>G	c.(403-405)gAg>gGg	p.E135G		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	135					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGGCCGTGGAGTACCAGCGG	0.632000													15	41					0	0	0.002450	0	0
SCMH1	22955	broad.mit.edu	37	1	41493986	41493986	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:41493986G>T	ENST00000402904.2	-	16	2231	c.1863C>A	c.(1861-1863)atC>atA	p.I621I	SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000372596.1_Silent_p.I538I|SCMH1_ENST00000397174.2_Silent_p.I579I|SCMH1_ENST00000397171.2_Silent_p.I538I|SCMH1_ENST00000337495.5_Silent_p.I609I|SCMH1_ENST00000372597.1_Silent_p.I552I|SCMH1_ENST00000326197.7_Silent_p.I621I|SCMH1_ENST00000361191.5_Silent_p.I538I|SCMH1_ENST00000372595.1_Silent_p.I560I|SCMH1_ENST00000361705.3_Silent_p.I552I|SCMH1_ENST00000456518.2_Silent_p.I441I	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	621	SAM.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCTTGCCATCGATCTCCTGGG	0.597000													24	63					1.10923e-09	1.43175e-09	0.002780	1	0
ZADH2	284273	broad.mit.edu	37	18	72913707	72913707	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:72913707C>T	ENST00000322342.3	-	2	1087	c.798G>A	c.(796-798)ttG>ttA	p.L266L	ZADH2_ENST00000537114.2_Silent_p.L143L	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	266						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CTATTACTATCAAGCGCCCTT	0.507000													26	71					0	0	0.004656	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209996	140209996	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:140209996C>T	ENST00000529310.1	+	1	2434	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTTTAGCCCCAGCCTTTC	0.517000													34	75					0	0	0.006999	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460573	110460573	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:110460573T>C	ENST00000378402.5	+	39	6082	c.5978T>C	c.(5977-5979)gTt>gCt	p.V1993A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1993	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTCCACAGTTGTATTTGAG	0.408000										HNSCC(38;0.096)			7	46					0	0	0.001984	0	0
BIRC6	57448	broad.mit.edu	37	2	32832589	32832589	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32832589G>T	ENST00000421745.2	+	72	14272	c.14138G>T	c.(14137-14139)cGg>cTg	p.R4713L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4713					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGATATGAACGGTCTAGAGGC	0.423000													118	90					6.93263e-47	9.6981e-47	0.003610	1	0
MCTP1	79772	broad.mit.edu	37	5	94245027	94245027	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:94245027T>C	ENST00000515393.1	-	10	1580	c.1581A>G	c.(1579-1581)gaA>gaG	p.E527E	MCTP1_ENST00000505078.1_Silent_p.E43E|MCTP1_ENST00000312216.8_Silent_p.E306E|MCTP1_ENST00000429576.2_Silent_p.E260E|MCTP1_ENST00000505208.1_Silent_p.E306E	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	527	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTCCTCTTTCTTCATAAAGGT	0.368000													19	70					0	0	0.006122	0	0
NR1I3	9970	broad.mit.edu	37	1	161201118	161201118	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:161201118C>A	ENST00000515452.1	-	6	931	c.695G>T	c.(694-696)gGt>gTt	p.G232V	NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000511944.1_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000367982.4_Splice_Site|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000502985.1_Splice_Site|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000511748.1_Splice_Site|NR1I3_ENST00000442691.2_Splice_Site|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000367983.4_Splice_Site|NR1I3_ENST00000367985.3_Splice_Site|NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000508387.1_Splice_Site|NR1I3_ENST00000506209.1_Splice_Site			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACCATCTCACCACGGGCTCC	0.507000													23	102					6.32553e-13	8.34709e-13	0.004656	1	0
AP1G2	8906	broad.mit.edu	37	14	24034889	24034889	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:24034889T>C	ENST00000308724.5	-	6	1422	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	AP1G2_ENST00000397120.3_Missense_Mutation_p.I223V|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	223					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GTCCGGAGGATGTGTACCAGC	0.557000													13	52					0	0	0.002450	0	0
DCAF12	25853	broad.mit.edu	37	9	34125208	34125208	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:34125208T>A	ENST00000361264.4	-	2	487	c.146A>T	c.(145-147)tAc>tTc	p.Y49F	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	49						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GTTCTTCAAGTAGTATACTAA	0.463000													49	47					0	0	0.003610	0	0
RAI14	26064	broad.mit.edu	37	5	34821857	34821857	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:34821857A>G	ENST00000265109.3	+	14	1302	c.1015A>G	c.(1015-1017)Ata>Gta	p.I339V	RAI14_ENST00000515799.1_Missense_Mutation_p.I342V|RAI14_ENST00000506376.1_Missense_Mutation_p.I331V|RAI14_ENST00000428746.2_Missense_Mutation_p.I339V|RAI14_ENST00000512629.1_Missense_Mutation_p.I310V|RAI14_ENST00000503673.1_Missense_Mutation_p.I339V|RAI14_ENST00000397449.1_Missense_Mutation_p.I332V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	339						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTTATTGGATATAAGTTCTGA	0.348000													22	97					0	0	0.002780	0	0
SLC25A46	91137	broad.mit.edu	37	5	110097170	110097170	+	Silent	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:110097170A>T	ENST00000355943.3	+	8	1071	c.945A>T	c.(943-945)ccA>ccT	p.P315P	SLC25A46_ENST00000447245.2_Silent_p.P234P|SLC25A46_ENST00000509432.1_Silent_p.P102P|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Silent_p.P224P|SLC25A46_ENST00000513807.1_Silent_p.P153P|SLC25A46_ENST00000504098.1_Silent_p.P169P	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	315					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CTTATTTTCCAGAACTTATTG	0.413000													86	215					0	0	0.003610	0	0
LRBA	987	broad.mit.edu	37	4	151223937	151223937	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:151223937C>T	ENST00000535741.1	-	53	8330	c.7857G>A	c.(7855-7857)ttG>ttA	p.L2619L	LRBA_ENST00000357115.3_Silent_p.L2630L|LRBA_ENST00000510413.1_Silent_p.L2619L|LRBA_ENST00000503716.1_5'UTR			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2630						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)					CCACTTGGATCAATCTTCCTG	0.363000													18	70					0	0	0.007413	0	0
UBXN6	80700	broad.mit.edu	37	19	4453499	4453499	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:4453499C>T	ENST00000301281.6	-	3	392	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	UBXN6_ENST00000394765.3_Missense_Mutation_p.E37K	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	90						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						ACGGTGGCTTCGGCTTGAAGT	0.627000													12	34					0	0	0.001855	0	0
SPECC1	92521	broad.mit.edu	37	17	20108350	20108350	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:20108350G>C	ENST00000395530.2	+	2	953	c.745G>C	c.(745-747)Gac>Cac	p.D249H	SPECC1_ENST00000395527.4_Missense_Mutation_p.D330H|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000261503.5_Missense_Mutation_p.D330H|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395525.3_Missense_Mutation_p.D249H|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395522.2_Missense_Mutation_p.D249H|SPECC1_ENST00000395529.3_Missense_Mutation_p.D330H	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	330						nucleus		p.D330N(2)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGATGCTTCCGACTTTGAGCA	0.458000													7	239					0	0	0.006214	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651522	84651522	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:84651522G>A	ENST00000286744.5	+	21	3366	c.3142G>A	c.(3142-3144)Gac>Aac	p.D1048N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1048N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1048						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGGATGATGACCACATTAG	0.448000													23	77					0	0	0.003954	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:21971209T>A	ENST00000579755.1	-	2	486		c.e2-2		CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000304494.5_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			12	12					0	0	0.002450	0	0
SEC31A	22872	broad.mit.edu	37	4	83778203	83778203	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:83778203T>C	ENST00000432794.1	-	16	1946	c.1783A>G	c.(1783-1785)Atg>Gtg	p.M595V	SEC31A_ENST00000264405.5_Missense_Mutation_p.M328V|SEC31A_ENST00000509142.1_Missense_Mutation_p.M595V|SEC31A_ENST00000326950.5_Missense_Mutation_p.M556V|SEC31A_ENST00000505984.1_Missense_Mutation_p.M556V|SEC31A_ENST00000348405.4_Missense_Mutation_p.M556V|SEC31A_ENST00000311785.7_Missense_Mutation_p.M595V|SEC31A_ENST00000395310.2_Missense_Mutation_p.M595V|SEC31A_ENST00000443462.2_Missense_Mutation_p.M590V|SEC31A_ENST00000508502.1_Missense_Mutation_p.M595V|SEC31A_ENST00000500777.2_Missense_Mutation_p.M556V|SEC31A_ENST00000508479.1_Missense_Mutation_p.M595V|SEC31A_ENST00000355196.2_Missense_Mutation_p.M595V|SEC31A_ENST00000448323.1_Missense_Mutation_p.M595V|SEC31A_ENST00000513858.1_Missense_Mutation_p.M556V|SEC31A_ENST00000505472.1_Missense_Mutation_p.M595V			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	595					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GCATCGGCCATGCGGTTATCA	0.418000													23	61					0	0	0.001882	0	0
CCDC39	339829	broad.mit.edu	37	3	180397161	180397161	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:180397161C>A	ENST00000273654.4	-	7	879	c.260G>T	c.(259-261)aGc>aTc	p.S87I	CCDC39_ENST00000442201.2_Missense_Mutation_p.S3I			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	3					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAGGAATTCGCTACTCATGAC	0.552000													73	194					2.10328e-26	2.88966e-26	0.003610	1	0
SLC25A44	9673	broad.mit.edu	37	1	156180072	156180072	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156180072G>A	ENST00000359511.4	+	4	967	c.795G>A	c.(793-795)ctG>ctA	p.L265L	SLC25A44_ENST00000423538.2_Silent_p.L242L|SLC25A44_ENST00000469537.1_3'UTR	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	265					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TCAGACAGCTGATGGCAGAAG	0.547000													34	69					0	0	0.003271	0	0
DNAI2	64446	broad.mit.edu	37	17	72308171	72308171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72308171G>C	ENST00000579490.1	+	11	1830	c.1695G>C	c.(1693-1695)aaG>aaC	p.K565N	DNAI2_ENST00000311014.6_Missense_Mutation_p.K508N|DNAI2_ENST00000582036.1_Missense_Mutation_p.K496N|DNAI2_ENST00000446837.2_Missense_Mutation_p.K508N|DNAI2_ENST00000307504.5_Missense_Mutation_p.K365N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	508					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCGAGAGAAGATCCTGGAGG	0.657000									Kartagener syndrome				24	44					0	0	0.006320	0	0
OVGP1	5016	broad.mit.edu	37	1	111966296	111966296	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:111966296C>G	ENST00000369732.3	-	5	407	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	OVGP1_ENST00000540696.1_Missense_Mutation_p.E58Q	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	118					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ATAAACTTTTCACGGTTGGCA	0.458000													20	72					0	0	0.002299	0	0
MX2	4600	broad.mit.edu	37	21	42780076	42780076	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:42780076G>A	ENST00000330714.3	+	14	2248	c.2064G>A	c.(2062-2064)aaG>aaA	p.K688K		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	688	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CCGCTACCAAGAGAAGAATCC	0.502000													54	65					0	0	0.003610	0	0
SPATA20	64847	broad.mit.edu	37	17	48628506	48628506	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:48628506C>T	ENST00000006658.6	+	12	1651	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.R451W|SPATA20_ENST00000356488.4_Missense_Mutation_p.R495W	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	495					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGGAAGCATCGGCCCAAGCC	0.627000											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	21					0	0	0.000602	0	0
SRP68	6730	broad.mit.edu	37	17	74068493	74068493	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74068493C>T	ENST00000307877.2	-	1	241	c.80G>A	c.(79-81)aGc>aAc	p.S27N	SRP68_ENST00000539137.1_Missense_Mutation_p.S27N|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	27				Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						Tccaccgccgctaccgccgcc	0.662000													25	48					0	0	0.008361	0	0
RSF1	51773	broad.mit.edu	37	11	77378038	77378038	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:77378038G>C	ENST00000308488.6	-	16	4552	c.4250C>G	c.(4249-4251)gCa>gGa	p.A1417G	RSF1_ENST00000360355.2_Missense_Mutation_p.A1386G|RSF1_ENST00000480887.1_Missense_Mutation_p.A1165G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1417					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTCTGGTGCTCCTGCCTC	0.478000													44	282					0	0	0.003610	0	0
CHD1	1105	broad.mit.edu	37	5	98240643	98240643	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:98240643T>G	ENST00000284049.3	-	2	362	c.213A>C	c.(211-213)gaA>gaC	p.E71D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	71					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAACTTTGTTTTCTCGGGAAG	0.433000													65	98					0	0	0.003610	0	0
PARPBP	55010	broad.mit.edu	37	12	102569339	102569339	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:102569339A>G	ENST00000327680.2	+	8	1120	c.657A>G	c.(655-657)aaA>aaG	p.K219K	PARPBP_ENST00000541394.1_Silent_p.K377K|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000358383.5_Silent_p.K300K|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000392911.2_Silent_p.K219K	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	300					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						CTTTTTGCAAAGCAATAGAGG	0.388000													30	79					0	0	0.006320	0	0
SMG1	23049	broad.mit.edu	37	16	18864945	18864945	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:18864945C>T	ENST00000446231.2	-	31	5140	c.4728G>A	c.(4726-4728)acG>acA	p.T1576T	SMG1_ENST00000389467.3_Silent_p.T1576T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1576	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTCTTCCATCGTATTAACAG	0.348000													7	25					0	0	0.001984	0	0
HCN3	57657	broad.mit.edu	37	1	155247576	155247576	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155247576C>T	ENST00000368358.3	+	1	203	c.195C>T	c.(193-195)ttC>ttT	p.F65F	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	65	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	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)			TTCGGGTGTTCGGCAGCCACA	0.622000													11	18					0	0	0.001368	0	0
CHUK	1147	broad.mit.edu	37	10	101953102	101953102	+	Silent	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:101953102T>G	ENST00000370397.7	-	19	2147	c.2061A>C	c.(2059-2061)tcA>tcC	p.S687S	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	687				TS -> DL (in Ref. 7; AAC50713).	I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CATGTTCTGCTGAAGTCGGGG	0.473000													39	95					0	0	0.006230	0	0
HTR3B	9177	broad.mit.edu	37	11	113775663	113775663	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:113775663C>G	ENST00000260191.2	+	1	265	c.8C>G	c.(7-9)tCa>tGa	p.S3*		NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	3					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GGAATGTTGTCAAGTGTAATG	0.458000													14	32					0	0	0.004990	0	0
SLC7A2	6542	broad.mit.edu	37	8	17396424	17396424	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:17396424T>G	ENST00000470360.1	+	3	208	c.91T>G	c.(91-93)Ttt>Gtt	p.F31V	SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.F31V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.F31V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CGACAGCAAGTTTCTCCTGTA	0.403000													14	94					0	0	0.001523	0	0
ATP5B	506	broad.mit.edu	37	12	57037667	57037667	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:57037667G>A	ENST00000262030.3	-	4	611	c.561C>T	c.(559-561)atC>atT	p.I187I	ATP5B_ENST00000552919.1_Silent_p.I187I	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	187					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGACAACCTTGATACCAGTCA	0.428000													21	73					0	0	0.001882	0	0
CARD14	79092	broad.mit.edu	37	17	78166356	78166356	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:78166356G>T	ENST00000573882.1	+	11	1830	c.1294G>T	c.(1294-1296)Gtg>Ttg	p.V432L	CARD14_ENST00000392434.2_Missense_Mutation_p.V195L|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.V432L|CARD14_ENST00000344227.2_Missense_Mutation_p.V432L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	432					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCAGCGGCTGGTGCGGATGCA	0.637000													25	72					1.64293e-13	2.183e-13	0.003330	1	0
MTURN	222166	broad.mit.edu	37	7	30197062	30197062	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:30197062G>A	ENST00000324453.8	+	3	621	c.294G>A	c.(292-294)ggG>ggA	p.G98G	C7orf41_ENST00000455738.1_Silent_p.G65G|C7orf41_ENST00000324489.5_Silent_p.G65G|C7orf41_ENST00000409688.1_Silent_p.G57G|C7orf41_ENST00000415604.1_Silent_p.G98G	NM_152793.2	NP_690006.2	Q8N3F0	CG041_HUMAN		98										NS(1)|large_intestine(2)	3						AGTTACTGGGGCTTCCGGATG	0.552000													70	216					0	0	0.003610	0	0
ANKIB1	54467	broad.mit.edu	37	7	91981884	91981884	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91981884G>T	ENST00000265742.3	+	9	1701	c.1325G>T	c.(1324-1326)gGa>gTa	p.G442V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	442							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATACATCTGGATCTGATACA	0.443000													88	229					3.1376e-36	4.35747e-36	0.003610	1	0
SLC35E4	339665	broad.mit.edu	37	22	31042720	31042720	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:31042720C>G	ENST00000343605.4	+	2	1554	c.755C>G	c.(754-756)tCt>tGt	p.S252C	SLC35E4_ENST00000300385.8_Intron|SLC35E4_ENST00000406566.1_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	252	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTGGCGACTCTCGCCTCTGG	0.667000													12	47					0	0	0.001368	0	0
HIST2H2BB	338391	broad.mit.edu	37	1	149399188	149399188	+	RNA	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:149399188G>A	ENST00000609879.1	-	0	410				HIST2H2BB_ENST00000609585.1_RNA																							ATTTTTGCGCGAAAAAAGAGA	0.483000													17	69					0	0	0.001523	0	0
ZNF583	147949	broad.mit.edu	37	19	56935524	56935524	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:56935524A>T	ENST00000333201.9	+	5	1707	c.1497A>T	c.(1495-1497)aaA>aaT	p.K499N	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.K499N	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTTGTGGGAAAGCATTTAGCT	0.393000													41	95					0	0	0.006999	0	0
CD101	9398	broad.mit.edu	37	1	117559992	117559992	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:117559992C>G	ENST00000256652.4	+	5	1567	c.1509C>G	c.(1507-1509)atC>atG	p.I503M	CD101_ENST00000369470.1_Missense_Mutation_p.I503M	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	503	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCACTGCCATCACAGACAGTG	0.517000													30	88					0	0	0.008361	0	0
PCGF6	84108	broad.mit.edu	37	10	105110683	105110683	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:105110683A>C	ENST00000369847.3	-	1	208	c.141T>G	c.(139-141)ccT>ccG	p.P47P	PCGF6_ENST00000337211.4_Silent_p.P47P|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	47	Pro-rich.				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TCTCAGACAGAGGCGCCGGTC	0.746000													5	9					0	0	0.000602	0	0
SRGAP2	23380	broad.mit.edu	37	1	206628299	206628299	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:206628299G>A	ENST00000414007.1	+	17	2016	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Silent_p.V117V			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	812	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AAGAAAAGGTGACAGCCAGAG	0.552000													35	87					0	0	0.003755	0	0
METTL21B	25895	broad.mit.edu	37	12	58174278	58174278	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:58174278A>G	ENST00000300209.8	+	3	655	c.530A>G	c.(529-531)tAt>tGt	p.Y177C	RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000333012.5_3'UTR|METTL21B_ENST00000551420.1_5'UTR|RP11-571M6.15_ENST00000553083.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	177						integral to membrane|intracellular	methyltransferase activity			endometrium(1)|lung(1)	2						GGCACCATCTATCTGGCCTCC	0.582000													24	40					0	0	0.002780	0	0
PRDM5	11107	broad.mit.edu	37	4	121843681	121843681	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:121843681C>T	ENST00000264808.3	-	1	323	c.83G>A	c.(82-84)aGa>aAa	p.R28K	PRDM5_ENST00000515109.1_Missense_Mutation_p.R28K|PRDM5_ENST00000394435.2_Missense_Mutation_p.R28K|PRDM5_ENST00000428209.2_Missense_Mutation_p.R28K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	28	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTTCGCACTCTGCGGGCCGT	0.746000													11	32					0	0	0.003163	0	0
HSPG2	3339	broad.mit.edu	37	1	22155497	22155497	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22155497T>A	ENST00000374695.3	-	88	12147	c.12068A>T	c.(12067-12069)aAg>aTg	p.K4023M	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4023	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGCCGTCCTTGTTGAGACG	0.701000													3	6					0	0	0.004672	0	0
ALX4	60529	broad.mit.edu	37	11	44331236	44331236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:44331236C>T	ENST00000329255.3	-	1	480	c.377G>A	c.(376-378)cGa>cAa	p.R126Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	126					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCAGGCGCCTCGCTGCAAGTA	0.726000													5	15					0	0	0.000602	0	0
PSD3	23362	broad.mit.edu	37	8	18662314	18662314	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:18662314C>A	ENST00000440756.2	-	5	1831	c.1729G>T	c.(1729-1731)Ggt>Tgt	p.G577C	PSD3_ENST00000327040.8_Missense_Mutation_p.G577C|PSD3_ENST00000523619.1_Missense_Mutation_p.G512C|PSD3_ENST00000286485.8_Missense_Mutation_p.G43C			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	577	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGCTGGTACCATTACTGAGA	0.448000													75	284					1.77355e-41	2.47203e-41	0.003610	1	0
IGLV3-9	28804	broad.mit.edu	37	22	23162170	23162170	+	RNA	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:23162170C>T	ENST00000390316.2	+	0	378																											TCGGGGAACACGGCCACCCTG	0.597000													18	69					0	0	0.001523	0	0
LOC220729	220729	broad.mit.edu	37	3	197348634	197348634	+	RNA	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:197348634G>C	ENST00000418868.1	-	0	625					NR_003266.2																						CAGCAGCACCGATGGGCCTGC	0.542000													4	83					0	0	0.000248	0	0
FNIP1	96459	broad.mit.edu	37	5	130980457	130980457	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:130980457C>A	ENST00000307968.7	-	17	3338		c.e17-1		FNIP1_ENST00000510461.1_Splice_Site|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Splice_Site	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GGATTCAATCCTGAAATAAAG	0.388000													33	101					4.11147e-13	5.44416e-13	0.003755	1	0
CDC20B	166979	broad.mit.edu	37	5	54436170	54436170	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:54436170G>C	ENST00000334206.5	-	5	728	c.552C>G	c.(550-552)ctC>ctG	p.L184L	CDC20B_ENST00000296733.1_Silent_p.L184L|CDC20B_ENST00000331730.3_Silent_p.L163L|CDC20B_ENST00000381375.2_Silent_p.L184L|CDC20B_ENST00000322374.6_Silent_p.L184L			Q86Y33	CD20B_HUMAN	cell division cycle 20B	184										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTGCTCACAGAGCTGCATTT	0.408000													18	38					0	0	0.008871	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676817	7676817	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:7676817G>A	ENST00000446248.2	+	13	1620	c.1519G>A	c.(1519-1521)Gac>Aac	p.D507N	CAMSAP3_ENST00000160298.4_Missense_Mutation_p.D480N	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	480	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TGGGGCGGCCGACGGCAGCTT	0.692000													17	48					0	0	0.007413	0	0
ARHGDIB	397	broad.mit.edu	37	12	15100819	15100819	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:15100819T>C	ENST00000228945.4	-	4	474	c.330A>G	c.(328-330)aaA>aaG	p.K110K	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541644.1_Silent_p.K110K|ARHGDIB_ENST00000541546.1_Silent_p.K110K	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	110					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TGAAGTGAATTTTGACTCTAT	0.343000													29	72					0	0	0.008361	0	0
ZNF264	9422	broad.mit.edu	37	19	57716855	57716855	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:57716855G>A	ENST00000263095.6	+	3	665	c.251G>A	c.(250-252)tGt>tAt	p.C84Y	ZNF264_ENST00000536056.1_Missense_Mutation_p.C84Y	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	84	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)		CAAGACACCTGTCCAGGTAGG	0.552000													7	27					0	0	0.003080	0	0
TOP2A	7153	broad.mit.edu	37	17	38567656	38567656	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38567656C>T	ENST00000423485.1	-	9	1173	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	339					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCACAACATCAACAAGTTTA	0.358000													58	287					0	0	0.003610	0	0
FBXW7	55294	broad.mit.edu	37	4	153250906	153250906	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:153250906G>T	ENST00000281708.4	-	8	2383	c.1154C>A	c.(1153-1155)aCa>aAa	p.T385K	FBXW7_ENST00000263981.5_Missense_Mutation_p.T305K|FBXW7_ENST00000393956.3_Missense_Mutation_p.T209K|FBXW7_ENST00000603841.1_Missense_Mutation_p.T385K|FBXW7_ENST00000603548.1_Missense_Mutation_p.T385K|FBXW7_ENST00000296555.5_Missense_Mutation_p.T267K	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	385					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAAGCATGTGATCACATG	0.343000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								20	92					2.37509e-13	3.15038e-13	0.001523	1	0
OR2A12	346525	broad.mit.edu	37	7	143793100	143793100	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:143793100A>G	ENST00000408949.2	+	1	960	c.900A>G	c.(898-900)ctA>ctG	p.L300L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGGGGCTCTAAAGAGAGTCC	0.453000													83	268					0	0	0.003610	0	0
UBXN6	80700	broad.mit.edu	37	19	4453498	4453498	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:4453498T>G	ENST00000301281.6	-	3	393	c.269A>C	c.(268-270)gAa>gCa	p.E90A	UBXN6_ENST00000394765.3_Missense_Mutation_p.E37A	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	90						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GACGGTGGCTTCGGCTTGAAG	0.627000													12	33					0	0	0.001855	0	0
SRRM2	23524	broad.mit.edu	37	16	2808993	2808993	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:2808993G>A	ENST00000301740.8	+	6	1150	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	201	Lys-rich.|Ser-rich.|Sufficient for RNA-binding.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TAGCAGGTCAGAGAGCAGCTC	0.453000													18	35					0	0	0.006122	0	0
INPPL1	3636	broad.mit.edu	37	11	71943351	71943351	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:71943351C>T	ENST00000298229.2	+	14	1887	c.1683C>T	c.(1681-1683)caC>caT	p.H561H	INPPL1_ENST00000538751.1_Silent_p.H319H|INPPL1_ENST00000541756.1_Silent_p.H319H	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	561					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGAATTGTCACCTCACCTCGG	0.552000													5	9					0	0	0.000602	0	0
APAF1	317	broad.mit.edu	37	12	99120994	99120994	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:99120994C>T	ENST00000357310.1	+	25	3948	c.3371C>T	c.(3370-3372)cCg>cTg	p.P1124L	APAF1_ENST00000547045.1_Missense_Mutation_p.P1124L|APAF1_ENST00000550527.1_Missense_Mutation_p.P1156L|APAF1_ENST00000339433.3_Missense_Mutation_p.P1082L|APAF1_ENST00000551964.1_Missense_Mutation_p.P1167L|APAF1_ENST00000549007.1_Missense_Mutation_p.P1082L|APAF1_ENST00000359972.2_Missense_Mutation_p.P1113L|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000333991.1_Intron	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1167					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.P1167Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTGTGTGCTCCGCTTTCAGAA	0.423000													28	138					0	0	0.004656	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													8	70					0	0	0.001855	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370509	86370509	+	Silent	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:86370509T>G	ENST00000400286.2	-	2	733	c.135A>C	c.(133-135)ctA>ctC	p.L45L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	45	LRRNT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CACAATTTATTAGCATTGTGC	0.408000													34	48					0	0	0.002836	0	0
SYT11	23208	broad.mit.edu	37	1	155838178	155838178	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155838178G>C	ENST00000368324.4	+	2	710	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	153						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATCATCTCCAGAGGAGGATGT	0.517000													47	139					0	0	0.003610	0	0
CCDC24	149473	broad.mit.edu	37	1	44461719	44461719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:44461719C>T	ENST00000372318.3	+	9	982	c.811C>T	c.(811-813)Cga>Tga	p.R271*	SLC6A9_ENST00000372306.3_Intron|CCDC24_ENST00000479055.1_3'UTR|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	271										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCCCTACCTTCGACCTCGAGG	0.677000													44	84					0	0	0.002222	0	0
C1orf56	54964	broad.mit.edu	37	1	151020344	151020344	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:151020344G>A	ENST00000368926.5	+	1	129	c.21G>A	c.(19-21)gcG>gcA	p.A7A		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	7						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGCCGGCGCGCTGCTGTGGG	0.687000													8	29					0	0	0.003080	0	0
C9orf96	169436	broad.mit.edu	37	9	136269137	136269137	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:136269137C>T	ENST00000371957.3	+	16	1804	c.1697C>T	c.(1696-1698)gCc>gTc	p.A566V	C9orf96_ENST00000371955.1_Missense_Mutation_p.A99V	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	566							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGAACAATGCCTACCGGGGA	0.612000											OREG0019586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	38					0	0	0.003610	0	0
PRKCB	5579	broad.mit.edu	37	16	24226045	24226045	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:24226045G>A	ENST00000303531.7	+	17	2082	c.1930G>A	c.(1930-1932)Gac>Aac	p.D644N	PRKCB_ENST00000321728.7_Intron	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	645	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AACACCTCCCGACCAGGAAGT	0.438000													36	69					0	0	0.004289	0	0
BAZ2B	29994	broad.mit.edu	37	2	160245986	160245986	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:160245986C>A	ENST00000392783.2	-	21	3581	c.3086G>T	c.(3085-3087)cGg>cTg	p.R1029L	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R995L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R929L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R993L|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1029	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.R1029L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGTTTCAACCGCTCTTTTTC	0.294000													12	37					0.00010058	0.000125807	0.001368	1	0
WBSCR22	114049	broad.mit.edu	37	7	73112020	73112020	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:73112020G>A	ENST00000265758.2	+	11	845	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	WBSCR22_ENST00000423166.2_3'UTR|WBSCR22_ENST00000423497.1_Missense_Mutation_p.G280S	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	263						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				CAGGCGCCAGGGCAGGTGAGT	0.607000													16	39					0	0	0.003163	0	0
CEP192	55125	broad.mit.edu	37	18	13059227	13059227	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:13059227G>C	ENST00000506447.1	+	21	4484	c.4404G>C	c.(4402-4404)tcG>tcC	p.S1468S	CEP192_ENST00000430049.2_Silent_p.S993S|CEP192_ENST00000325971.8_Silent_p.S872S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1063										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCCATGTTCGACAGATGCTG	0.468000													47	112					0	0	0.003610	0	0
LGALS4	3960	broad.mit.edu	37	19	39292541	39292541	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:39292541G>C	ENST00000307751.4	-	10	1312	c.835C>G	c.(835-837)Cgc>Ggc	p.R279G		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	279	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AAGCCACAGCGAATGGACAGC	0.562000													47	113					0	0	0.003610	0	0
OR6M1	390261	broad.mit.edu	37	11	123676311	123676311	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:123676311G>A	ENST00000309154.2	-	1	784	c.747C>T	c.(745-747)caC>caT	p.H249H		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGTTGCTCCCGTGGGCAATGG	0.507000													13	28					0	0	0.001368	0	0
CEP192	55125	broad.mit.edu	37	18	13069784	13069784	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:13069784C>T	ENST00000506447.1	+	27	5183	c.5103C>T	c.(5101-5103)ctC>ctT	p.L1701L	CEP192_ENST00000430049.2_Silent_p.L1226L|CEP192_ENST00000325971.8_Silent_p.L1105L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1296										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAATCTACTCCTTAAACCTG	0.373000													30	62					0	0	0.001786	0	0
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								15	20					0	0	0.004007	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555358	125555358	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:125555358G>A	ENST00000522532.1	+	2	179	c.132G>A	c.(130-132)atG>atA	p.M44I	NDUFB9_ENST00000518008.1_Missense_Mutation_p.M44I|NDUFB9_ENST00000517367.1_Intron|NDUFB9_ENST00000276689.3_Missense_Mutation_p.M44I			Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	44					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	CTTGTTTGATGAGAGCCCGGT	0.448000													14	80					0	0	0.003163	0	0
LSR	51599	broad.mit.edu	37	19	35758181	35758181	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:35758181C>T	ENST00000602122.1	+	8	1885	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A	LSR_ENST00000360798.3_Silent_p.A418A|LSR_ENST00000427250.1_Silent_p.A330A|LSR_ENST00000361790.3_Silent_p.A486A|LSR_ENST00000354900.3_Silent_p.A467A|LSR_ENST00000347609.4_Silent_p.A428A			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	486					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			gctggcgggccaggcggcccc	0.746000													3	6					0	0	0.004672	0	0
PDE11A	50940	broad.mit.edu	37	2	178936328	178936328	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:178936328C>A	ENST00000286063.6	-	1	1154	c.837G>T	c.(835-837)caG>caT	p.Q279H	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCCAGGGGACCTGCACCTCAT	0.522000									Primary Pigmented Nodular Adrenocortical Disease, Familial				91	81					3.07327e-39	4.27586e-39	0.003610	1	0
RBFA	79863	broad.mit.edu	37	18	77794534	77794534	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:77794534G>T	ENST00000569722.1	+	1	189	c.39G>T	c.(37-39)gcG>gcT	p.A13A	RBFA_ENST00000306735.5_Silent_p.A13A|RBFA_ENST00000262197.7_Silent_p.A13A|RBFA_ENST00000586847.1_3'UTR																							GCTCCCGCGCGGGTCTCCGGG	0.706000													9	40					1.12685e-05	1.41872e-05	0.004482	1	0
CD5	921	broad.mit.edu	37	11	60889102	60889102	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:60889102G>A	ENST00000347785.3	+	6	991	c.825G>A	c.(823-825)caG>caA	p.Q275Q		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	275					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCAAGGTGCAGAGCCGTCTGG	0.637000													17	73					0	0	0.004990	0	0
IFT81	28981	broad.mit.edu	37	12	110643412	110643412	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110643412C>G	ENST00000242591.5	+	17	2235	c.1729C>G	c.(1729-1731)Caa>Gaa	p.Q577E	IFT81_ENST00000552912.1_Missense_Mutation_p.Q577E	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	577					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						CCTAGAAGTTCAACTTCGTCG	0.318000													64	192					0	0	0.003610	0	0
PEX1	5189	broad.mit.edu	37	7	92143223	92143223	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:92143223G>A	ENST00000248633.4	-	6	1393	c.1298C>T	c.(1297-1299)aCt>aTt	p.T433I	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Missense_Mutation_p.T111I|PEX1_ENST00000428214.1_Missense_Mutation_p.T433I	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	433					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTCCACTGGAGTTATCCTGAC	0.303000													52	122					0	0	0.003610	0	0
GTF3C1	2975	broad.mit.edu	37	16	27472877	27472877	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:27472877C>T	ENST00000356183.4	-	37	6139	c.6124G>A	c.(6124-6126)Gag>Aag	p.E2042K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E2017K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2042						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCGAGGGACTCCAGGCCCTGG	0.577000													23	55					0	0	0.004656	0	0
CAP1	10487	broad.mit.edu	37	1	40525127	40525127	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:40525127A>C	ENST00000372797.3	+	2	670	c.109A>C	c.(109-111)Aaa>Caa	p.K37Q	CAP1_ENST00000372792.2_Missense_Mutation_p.K37Q|CAP1_ENST00000372805.3_Missense_Mutation_p.K37Q|CAP1_ENST00000340450.3_Missense_Mutation_p.K37Q|CAP1_ENST00000372802.1_Missense_Mutation_p.K37Q|CAP1_ENST00000372798.1_Missense_Mutation_p.K37Q	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	37					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTCCTTCAAAAGGTAAGCA	0.478000													19	52					0	0	0.006122	0	0
ITPK1	3705	broad.mit.edu	37	14	93412799	93412799	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:93412799C>T	ENST00000267615.6	-	10	951	c.778G>A	c.(778-780)Gag>Aag	p.E260K	ITPK1_ENST00000555495.1_Missense_Mutation_p.E141K|ITPK1_ENST00000556603.2_Missense_Mutation_p.E260K|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.E260K			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	260	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGGATGACCTCGTCGCTCGGC	0.632000													20	67					0	0	0.001882	0	0
DOK7	285489	broad.mit.edu	37	4	3475151	3475151	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:3475151T>C	ENST00000340083.5	+	3	184	c.119T>C	c.(118-120)gTc>gCc	p.V40A	DOK7_ENST00000507039.1_Missense_Mutation_p.V40A|DOK7_ENST00000389653.2_Missense_Mutation_p.V40A	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	40	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGATGCTGGTCTACAAGGAC	0.687000													16	94					0	0	0.004007	0	0
CIC	23152	broad.mit.edu	37	19	42797418	42797418	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:42797418G>A	ENST00000572681.2	+	16	6569	c.6501G>A	c.(6499-6501)aaG>aaA	p.K2167K	CIC_ENST00000575354.2_Silent_p.K1260K|CIC_ENST00000160740.3_Silent_p.K1258K			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGCGCCAAGGGCCCTGAGA	0.667000			"""Mis, F, S"""		oligodendroglioma								3	9					0	0	0.004672	0	0
NOTUM	147111	broad.mit.edu	37	17	79916822	79916822	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:79916822G>A	ENST00000409678.3	-	4	905	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	174						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCATGTTTGCGTTCCACCAGT	0.602000													24	60					0	0	0.007291	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806060	97806060	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:97806060T>G	ENST00000358642.2	+	1	44	c.44T>G	c.(43-45)gTt>gGt	p.V15G		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ACAGAGTTTGTTCTCACAGGA	0.403000													62	149					0	0	0.003610	0	0
ATRX	546	broad.mit.edu	37	X	76919036	76919036	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:76919036G>C	ENST00000373344.5	-	12	4169	c.3955C>G	c.(3955-3957)Caa>Gaa	p.Q1319E	ATRX_ENST00000395603.3_Missense_Mutation_p.Q1281E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1319					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAATTGACTTGATTTTTTGCT	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						14	11					0	0	0.002450	0	0
CNNM3	26505	broad.mit.edu	37	2	97483118	97483118	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:97483118G>A	ENST00000305510.3	+	1	1132	c.1104G>A	c.(1102-1104)ttG>ttA	p.L368L	CNNM3_ENST00000377060.3_Silent_p.L368L	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	368	CBS 1.				ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TCAAGGACTTGGCCTTCGTGG	0.602000													61	51					0	0	0.003610	0	0
PTGS2	5743	broad.mit.edu	37	1	186648486	186648486	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:186648486C>A	ENST00000367468.5	-	2	273	c.137G>T	c.(136-138)cGg>cTg	p.R46L	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	46	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAATCCTGTCCGGGTACAATC	0.438000													24	55					4.4004e-07	5.59521e-07	0.003330	1	0
RGS22	26166	broad.mit.edu	37	8	101076156	101076156	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:101076156T>C	ENST00000360863.6	-	8	1034	c.840A>G	c.(838-840)gtA>gtG	p.V280V	RGS22_ENST00000523287.1_Silent_p.V99V|RGS22_ENST00000523437.1_Silent_p.V268V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	280					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTGTAGAGATACAGACACCt	0.388000													14	248					0	0	0.001855	0	0
FUK	197258	broad.mit.edu	37	16	70506488	70506488	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70506488C>T	ENST00000288078.6	+	14	1618	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	FUK_ENST00000378912.2_Silent_p.F494F|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	462						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGAGTGAATTCTTCAAGAGGA	0.607000													6	17					0	0	0.001984	0	0
GNB1	2782	broad.mit.edu	37	1	1721920	1721920	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:1721920C>T	ENST00000378609.4	-	9	944	c.613G>A	c.(613-615)Gat>Aat	p.D205N		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	205					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTGAAGCATCACAAGCACCA	0.562000													24	48					0	0	0.004656	0	0
BRAP	8315	broad.mit.edu	37	12	112097074	112097074	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:112097074C>T	ENST00000419234.4	-	8	1241	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	BRAP_ENST00000327551.6_Missense_Mutation_p.E320K|BRAP_ENST00000539060.1_Missense_Mutation_p.E171K	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	350					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TGCGTTTCCTCAAAGTGCTTA	0.443000													33	108					0	0	0.003271	0	0
NME9	347736	broad.mit.edu	37	3	138024902	138024902	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:138024902C>G	ENST00000383180.2	-	9	634	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	NME9_ENST00000484930.1_Missense_Mutation_p.E131Q|NME9_ENST00000536478.1_Missense_Mutation_p.E133Q|NME9_ENST00000341790.5_Missense_Mutation_p.E131Q|NME9_ENST00000317876.4_Missense_Mutation_p.E133Q|NME9_ENST00000333911.3_Missense_Mutation_p.E194Q	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	194					cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ATGGTTCTCTCTTCATTTGTT	0.373000													40	129					0	0	0.002522	0	0
SLC47A2	146802	broad.mit.edu	37	17	19618059	19618059	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:19618059G>A	ENST00000350657.5	-	3	443	c.269C>T	c.(268-270)tCg>tTg	p.S90L	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Missense_Mutation_p.S90L	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	90						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GTCACATGCCGAAGACAAACC	0.567000													65	229					0	0	0.003610	0	0
MAP1S	55201	broad.mit.edu	37	19	17837423	17837423	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:17837423C>T	ENST00000324096.4	+	5	1381	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	MAP1S_ENST00000544059.2_Silent_p.A384A|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	410	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCACGCTGGCCTCTGTGTGCG	0.726000													4	7					0	0	0.000248	0	0
TCP11L1	55346	broad.mit.edu	37	11	33083105	33083105	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:33083105G>C	ENST00000334274.4	+	7	1205	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	TCP11L1_ENST00000531632.2_Missense_Mutation_p.E269Q|TCP11L1_ENST00000432887.1_Missense_Mutation_p.E269Q|TCP11L1_ENST00000324357.9_Missense_Mutation_p.E48Q	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	269										kidney(1)|liver(2)|lung(2)|skin(1)	6						CCAGTGGCTGGAAGAAGCCTC	0.527000													21	38					0	0	0.001523	0	0
IBA57	200205	broad.mit.edu	37	1	228362831	228362831	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:228362831G>C	ENST00000366711.3	+	3	690	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	IBA57_ENST00000546123.1_Missense_Mutation_p.E37Q|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	230					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGGCGTTCCTGAGGGGGTCCG	0.627000													28	83					0	0	0.007291	0	0
MFSD7	84179	broad.mit.edu	37	4	682809	682809	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:682809G>A	ENST00000322224.4	-	1	421	c.108C>T	c.(106-108)atC>atT	p.I36I	MFSD7_ENST00000515118.1_Silent_p.I36I|MFSD7_ENST00000404286.2_Silent_p.I36I|MFSD7_ENST00000347950.5_Silent_p.I36I|MFSD7_ENST00000513740.1_5'UTR			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	36					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						TGAGCAGGCTGATCGCGAGCA	0.721000													13	19					0	0	0.002450	0	0
PLA2G6	8398	broad.mit.edu	37	22	38536057	38536057	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:38536057A>T	ENST00000332509.3	-	5	912	c.729T>A	c.(727-729)aaT>aaA	p.N243K	PLA2G6_ENST00000402064.1_Missense_Mutation_p.N243K|PLA2G6_ENST00000335539.3_Missense_Mutation_p.N243K	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	243					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGCACCGAGCATTGCACAGCA	0.627000													11	46					0	0	0.000978	0	0
OR7G2	390882	broad.mit.edu	37	19	9213259	9213259	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:9213259T>C	ENST00000305456.2	-	1	723	c.724A>G	c.(724-726)Atc>Gtc	p.I242V		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CAGGAGGTGATCTGAGTGTAA	0.448000													30	93					0	0	0.007291	0	0
PSMA2	5683	broad.mit.edu	37	7	42964312	42964312	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:42964312C>T	ENST00000538645.1	-	3	274	c.102G>A	c.(100-102)caG>caA	p.Q34Q	PSMA2_ENST00000223321.4_Silent_p.Q112Q|PSMA2_ENST00000445517.1_Silent_p.Q42Q|PSMA2_ENST00000442788.1_Silent_p.Q112Q			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AAGCTACTCTCTGTACCAGCT	0.393000													39	95					0	0	0.006230	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4662181	4662181	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:4662181G>A	ENST00000228843.9	+	8	690	c.640G>A	c.(640-642)Gag>Aag	p.E214K	RAD51AP1_ENST00000543041.1_Missense_Mutation_p.E79K|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.E197K|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.E197K|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.E214K	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	214					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TGATTTTTGTGAGAGTGAGGA	0.318000													17	53					0	0	0.006122	0	0
PTPN18	26469	broad.mit.edu	37	2	131127379	131127379	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:131127379C>T	ENST00000175756.5	+	7	626	c.525C>T	c.(523-525)acC>acT	p.T175T	PTPN18_ENST00000347849.3_Silent_p.T68T	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	175	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TGCTCAGGACCCTCAAGGTCA	0.502000													33	27					0	0	0.003755	0	0
MUC16	94025	broad.mit.edu	37	19	9064866	9064866	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:9064866G>T	ENST00000397910.4	-	3	22783	c.22580C>A	c.(22579-22581)tCt>tAt	p.S7527Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7529	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S7527Y(2)|p.S3160Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTAGTGTTAGATAAGGCAGG	0.483000													29	66					2.65835e-16	3.53832e-16	0.007291	1	0
EPHX2	2053	broad.mit.edu	37	8	27361273	27361273	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:27361273G>T	ENST00000521400.1	+	3	769	c.339G>T	c.(337-339)agG>agT	p.R113S	EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000521780.1_Missense_Mutation_p.R47S|EPHX2_ENST00000380476.3_Missense_Mutation_p.R60S|EPHX2_ENST00000518379.1_Missense_Mutation_p.R113S	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	113	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TCATGCTCAGGAAGAAAGGTA	0.493000													23	97					2.64397e-27	3.65211e-27	0.005443	1	0
LRRC37A4P	55073	broad.mit.edu	37	17	43596446	43596446	+	RNA	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:43596446T>A	ENST00000253803.2	+	0	267																											TGGCCTACAGTTTGAATCTTT	0.453000													43	924					0	0	0.006999	0	0
VWF	7450	broad.mit.edu	37	12	6128469	6128469	+	Missense_Mutation	SNP	A	A	G	rs61750070		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:6128469A>G	ENST00000261405.5	-	28	4369	c.4115T>C	c.(4114-4116)aTc>aCc	p.I1372T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1372	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGGCGGTCGATCTTGCTGAA	0.612000													34	85					0	0	0.003271	0	0
HSPA4L	22824	broad.mit.edu	37	4	128751844	128751844	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:128751844T>C	ENST00000296464.4	+	18	2629	c.2218T>C	c.(2218-2220)Tgt>Cgt	p.C740R	HSPA4L_ENST00000505726.1_Missense_Mutation_p.C714R|HSPA4L_ENST00000439123.2_Missense_Mutation_p.C771R|HSPA4L_ENST00000508776.1_Missense_Mutation_p.C740R	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						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						GGTTGAAAAATGTATCAGTGA	0.343000													18	32					0	0	0.007413	0	0
TCHP	84260	broad.mit.edu	37	12	110342545	110342545	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110342545G>T	ENST00000312777.5	+	4	617	c.403G>T	c.(403-405)Gct>Tct	p.A135S	TCHP_ENST00000405876.4_Missense_Mutation_p.A135S	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	135	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						TTGATAGATTGCTGAACAACT	0.373000													18	48					2.94398e-08	3.77459e-08	0.007413	1	0
PNKP	11284	broad.mit.edu	37	19	50365522	50365522	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:50365522G>A	ENST00000322344.3	-	12	1155	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	PNKP_ENST00000596014.1_Missense_Mutation_p.S349L|PNKP_ENST00000600573.1_Missense_Mutation_p.S318L|PNKP_ENST00000600910.1_Missense_Mutation_p.S349L	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	349					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GAGAGGCCCTGAGCGGGAGAC	0.716000								Other BER factors					7	19					0	0	0.003080	0	0
GMEB2	26205	broad.mit.edu	37	20	62229137	62229137	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:62229137G>A	ENST00000266068.1	-	4	912	c.434C>T	c.(433-435)gCc>gTc	p.A145V	GMEB2_ENST00000370069.1_Missense_Mutation_p.A94V|GMEB2_ENST00000370077.1_Missense_Mutation_p.A145V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	145	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CATGCGGATGGCTCTCTTCCA	0.597000													24	48					0	0	0.005443	0	0
PPP3CA	5530	broad.mit.edu	37	4	102267947	102267947	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:102267947C>T	ENST00000394854.3	-	1	690	c.7G>A	c.(7-9)Gag>Aag	p.E3K	PPP3CA_ENST00000523694.2_Missense_Mutation_p.E3K|PPP3CA_ENST00000512215.1_Missense_Mutation_p.E3K|PPP3CA_ENST00000394853.4_Missense_Mutation_p.E3K|PPP3CA_ENST00000507176.1_5'UTR|PPP3CA_ENST00000323055.6_Missense_Mutation_p.E3K	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	3	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCTTGGGCTCGGACATCTCC	0.701000													10	33					0	0	0.008291	0	0
RGS9	8787	broad.mit.edu	37	17	63156668	63156668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:63156668G>A	ENST00000449996.3	+	5	399	c.327G>A	c.(325-327)tgG>tgA	p.W109*	RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000262406.9_Nonsense_Mutation_p.W109*|RGS9_ENST00000443584.3_Nonsense_Mutation_p.W109*	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	109					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGTATTTCTGGCCCACCCAGC	0.468000													17	45					0	0	0.004007	0	0
FBXO22	26263	broad.mit.edu	37	15	76222340	76222340	+	Silent	SNP	C	C	T	rs143480986		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:76222340C>T	ENST00000308275.3	+	6	849	c.744C>T	c.(742-744)atC>atT	p.I248I	FBXO22_ENST00000453211.2_Silent_p.I248I|FBXO22_ENST00000540507.1_Silent_p.I144I	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	248					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATATGAATATCATCTTGGCTG	0.438000													34	97					0	0	0.002836	0	0
HSPG2	3339	broad.mit.edu	37	1	22169324	22169324	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22169324C>A	ENST00000374695.3	-	67	8928	c.8849G>T	c.(8848-8850)gGg>gTg	p.G2950V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2950	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATGGGCCTGCCCGGGCACCAC	0.657000													30	98					1.13719e-10	1.49038e-10	0.008361	1	0
NPY5R	4889	broad.mit.edu	37	4	164272420	164272420	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:164272420G>A	ENST00000515560.1	+	4	2517	c.995G>A	c.(994-996)gGg>gAg	p.G332E	NPY5R_ENST00000506953.1_Missense_Mutation_p.G332E|NPY5R_ENST00000338566.3_Missense_Mutation_p.G332E			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	332					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TTCATACCAGGGGTCCCCACT	0.398000													12	58					0	0	0.002450	0	0
YTHDC2	64848	broad.mit.edu	37	5	112903525	112903525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:112903525C>T	ENST00000161863.4	+	23	3436	c.3223C>T	c.(3223-3225)Cag>Tag	p.Q1075*		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1075							ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TAATGCTCTTCAGGAACCTTC	0.318000													40	79					0	0	0.003610	0	0
CREB3L3	84699	broad.mit.edu	37	19	4159761	4159761	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:4159761G>A	ENST00000078445.2	+	4	705	c.558G>A	c.(556-558)tcG>tcA	p.S186S	CREB3L3_ENST00000595923.1_Silent_p.S185S|CREB3L3_ENST00000602257.1_Silent_p.S186S|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000602147.1_Silent_p.S186S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	186					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCTTTCGGGCAGCAGTG	0.612000													29	74					0	0	0.002096	0	0
BRWD1	54014	broad.mit.edu	37	21	40574387	40574387	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:40574387C>T	ENST00000342449.3	-	38	4527	c.4449G>A	c.(4447-4449)agG>agA	p.R1483R	BRWD1_ENST00000380800.3_Silent_p.R1483R|BRWD1_ENST00000333229.2_Silent_p.R1483R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GATAAGCTGTCCTACTTGAGG	0.428000													25	50					0	0	0.003954	0	0
ADAM2	2515	broad.mit.edu	37	8	39645638	39645638	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:39645638C>A	ENST00000265708.4	-	9	878	c.775G>T	c.(775-777)Gtt>Ttt	p.V259F	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.V259F|ADAM2_ENST00000347580.4_Missense_Mutation_p.V240F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	259	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGACGTAAAACAAGATAAGAT	0.308000													22	95					1.96292e-10	2.55946e-10	0.001523	1	0
SPATA12	353324	broad.mit.edu	37	3	57107939	57107939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:57107939C>T	ENST00000334325.1	+	2	892	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	73										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		GCTGACATTTCAGGGGGATGT	0.532000													32	43					0	0	0.001786	0	0
ZNF185	7739	broad.mit.edu	37	X	152128422	152128422	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:152128422G>T	ENST00000535861.1	+	18	1730	c.1682G>T	c.(1681-1683)cGa>cTa	p.R561L	ZNF185_ENST00000318504.7_Missense_Mutation_p.R470L|ZNF185_ENST00000370268.4_Missense_Mutation_p.R529L|ZNF185_ENST00000454925.1_Missense_Mutation_p.R167L|ZNF185_ENST00000449285.2_Missense_Mutation_p.R530L|ZNF185_ENST00000370270.2_Missense_Mutation_p.R561L|ZNF185_ENST00000539731.1_Missense_Mutation_p.R532L|ZNF185_ENST00000318529.8_Missense_Mutation_p.R308L|ZNF185_ENST00000324823.6_Missense_Mutation_p.R297L	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	529						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGTCAGACGAGAGAGCTGC	0.582000													5	9					1.6384e-10	2.1436e-10	0.001984	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47422461	47422461	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:47422461C>G	ENST00000404338.3	+	1	529	c.529C>G	c.(529-531)Cag>Gag	p.Q177E		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	177					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTTTGATGACCAGCTCAAGTT	0.443000													29	100					0	0	0.002836	0	0
NDN	4692	broad.mit.edu	37	15	23931699	23931699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:23931699C>T	ENST00000331837.4	-	1	751	c.666G>A	c.(664-666)tgG>tgA	p.W222*		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	222	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGTGCTTCTTCCAGGGCCGCA	0.622000									Prader-Willi syndrome				17	45					0	0	0.004007	0	0
DDX19B	11269	broad.mit.edu	37	16	70367484	70367484	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70367484G>A	ENST00000288071.6	+	12	1684	c.1439G>A	c.(1438-1440)tGa>tAa	p.*480*	DDX19B_ENST00000451014.3_Silent_p.*454*|DDX19B_ENST00000355992.3_Silent_p.*449*|DDX19B_ENST00000393657.2_Silent_p.*371*|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Silent_p.*371*|DDX19B_ENST00000563392.1_Silent_p.*371*|DDX19B_ENST00000563206.1_Silent_p.*485*|RP11-529K1.3_ENST00000567706.1_Intron	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	0					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				ATAGCCAACTGAGAAGCTCCA	0.537000													130	162					0	0	0.003610	0	0
GPR1	2825	broad.mit.edu	37	2	207041473	207041473	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:207041473G>C	ENST00000407325.2	-	3	861	c.499C>G	c.(499-501)Cta>Gta	p.L167V	GPR1_ENST00000437420.1_Missense_Mutation_p.L167V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	167						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CCGCCAATTAGAGAAGCCAAA	0.433000													33	35					0	0	0.002096	0	0
MID2	11043	broad.mit.edu	37	X	107169341	107169341	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:107169341G>A	ENST00000262843.6	+	9	2163	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	MID2_ENST00000443968.2_Missense_Mutation_p.D509N|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	539	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTTTAAATTGGATCCCAAAAT	0.378000													37	34					0	0	0.004289	0	0
RMDN3	55177	broad.mit.edu	37	15	41037420	41037420	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:41037420C>T	ENST00000260385.6	-	4	1629	c.562G>A	c.(562-564)Gac>Aac	p.D188N	RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Missense_Mutation_p.D188N					regulator of microtubule dynamics 3																		TTGTCAGAGTCCCGCTCATTG	0.498000													85	106					0	0	0.003610	0	0
MUC15	143662	broad.mit.edu	37	11	26586972	26586972	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:26586972G>A	ENST00000436318.2	-	2	648	c.515C>T	c.(514-516)tCt>tTt	p.S172F	ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.S172F|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.S172F|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.S145F|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.S172F			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	145						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTTTTCTGAAGACAGAGCAGG	0.428000													35	92					0	0	0.004289	0	0
PARP8	79668	broad.mit.edu	37	5	50090057	50090057	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:50090057G>A	ENST00000281631.5	+	11	912	c.754G>A	c.(754-756)Gtt>Att	p.V252I	PARP8_ENST00000514342.2_Missense_Mutation_p.V5I|PARP8_ENST00000514067.2_Missense_Mutation_p.V252I|PARP8_ENST00000505554.1_Missense_Mutation_p.V231I|PARP8_ENST00000503750.2_Missense_Mutation_p.V252I|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.V252I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	252						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCAGACATTTGTTACACAGCA	0.343000													13	48					0	0	0.001855	0	0
TRA2A	29896	broad.mit.edu	37	7	23547040	23547040	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23547040G>A	ENST00000297071.4	-	5	856	c.640C>T	c.(640-642)Cat>Tat	p.H214Y	TRA2A_ENST00000538367.1_Splice_Site_p.H113Y|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000392502.4_Splice_Site_p.H113Y	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	214	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						AACTCTTACTGAGTTGGTCTG	0.378000													68	169					0	0	0.003610	0	0
C7orf26	79034	broad.mit.edu	37	7	6630079	6630079	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:6630079G>A	ENST00000344417.5	+	1	432	c.165G>A	c.(163-165)gtG>gtA	p.V55V	C7orf26_ENST00000359073.5_Silent_p.V55V	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	55										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		TGTTCCAGGTGCCCAAGGAGC	0.706000													6	12					0	0	0.001984	0	0
CHMP7	91782	broad.mit.edu	37	8	23112797	23112797	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:23112797C>T	ENST00000397677.1	+	4	1157	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CHMP7_ENST00000313219.7_Missense_Mutation_p.S170L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	170					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TATCAGAACTCGCCCCTCTCC	0.592000													16	53					0	0	0.004007	0	0
XRN1	54464	broad.mit.edu	37	3	142140317	142140317	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:142140317C>T	ENST00000264951.4	-	9	1153		c.e9+1		XRN1_ENST00000392981.2_Splice_Site|XRN1_ENST00000544157.1_Splice_Site|XRN1_ENST00000463916.1_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTTACTTACATCTGATAGT	0.318000													6	40					0	0	0.001984	0	0
CCM2L	140706	broad.mit.edu	37	20	30602794	30602794	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:30602794C>T	ENST00000300415.8	+	2	131	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	CCM2L_ENST00000262659.8_Missense_Mutation_p.H40Y					cerebral cavernous malformation 2-like																		CCGGCCCCTGCACTCGATGCC	0.637000													58	133					0	0	0.003610	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452341	102452341	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:102452341C>T	ENST00000360184.4	+	8	1943	c.1779C>T	c.(1777-1779)gtC>gtT	p.V593V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	593	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACTGTTTGTCAGGCCTCACA	0.527000													30	55					0	0	0.008361	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072837	17072837	+	Missense_Mutation	SNP	G	G	T	rs142343817		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:17072837G>T	ENST00000359963.3	-	1	863	c.604C>A	c.(604-606)Cgt>Agt	p.R202S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	202					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACCCCAACACGCTCAGGCTTG	0.612000													29	122					7.68411e-24	1.05382e-23	0.008361	1	0
SH2B1	25970	broad.mit.edu	37	16	28883959	28883959	+	Silent	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28883959T>A	ENST00000337120.5	+	7	5121	c.1830T>A	c.(1828-1830)ccT>ccA	p.P610P	SH2B1_ENST00000538342.1_Silent_p.P274P|SH2B1_ENST00000359285.5_Silent_p.P610P|SH2B1_ENST00000395532.4_Silent_p.P610P|SH2B1_ENST00000322610.8_Silent_p.P610P|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Silent_p.P300P	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	610	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ACCCCATCCCTTTGGAGTCGG	0.602000													42	90					0	0	0.002222	0	0
PPFIA3	8541	broad.mit.edu	37	19	49652416	49652416	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:49652416G>A	ENST00000334186.4	+	26	3625	c.3276G>A	c.(3274-3276)caG>caA	p.Q1092Q	PPFIA3_ENST00000602351.1_Silent_p.Q1083Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1092	SAM 3.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCCCCACGCAGAATGCACAGG	0.677000													16	38					0	0	0.006122	0	0
LDB2	9079	broad.mit.edu	37	4	16597444	16597444	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:16597444A>C	ENST00000502640.1	-	3	438	c.290T>G	c.(289-291)gTg>gGg	p.V97G	LDB2_ENST00000441778.2_Missense_Mutation_p.V97G|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000304523.5_Missense_Mutation_p.V97G|LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.V97G			O43679	LDB2_HUMAN	LIM domain binding 2	97							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CAGGTCGGTCACCCCTCCTTC	0.493000													5	63					0	0	0.004482	0	0
UBA2	10054	broad.mit.edu	37	19	34919421	34919421	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:34919421C>T	ENST00000246548.4	+	1	154	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	28					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGGCGGCATCGGCTGCGAGC	0.736000													12	29					0	0	0.002450	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798060	55798060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:55798060C>T	ENST00000313555.1	+	1	166	c.166C>T	c.(166-168)Caa>Taa	p.Q56*		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTCAAGCCTTCAAATTCCCAT	0.343000													15	55					0	0	0.004007	0	0
SYT11	23208	broad.mit.edu	37	1	155838197	155838197	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155838197G>A	ENST00000368324.4	+	2	729	c.476G>A	c.(475-477)gGa>gAa	p.G159E	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	159						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTCATGCTAGGATCCCTCACC	0.537000													41	122					0	0	0.006230	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489996	73489996	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73489996C>T	ENST00000314256.7	+	18	2800	c.2406C>T	c.(2404-2406)gaC>gaT	p.D802D	KIAA0195_ENST00000375248.5_Splice_Site_p.D812D|KIAA0195_ENST00000579208.1_Splice_Site_p.D453D	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	802					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGCTCTGACGGTACCTCAT	0.692000													7	29					0	0	0.001368	0	0
KRTCAP2	200185	broad.mit.edu	37	1	155145217	155145217	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155145217G>A	ENST00000473363.2	-	3	357	c.358C>T	c.(358-360)Cac>Tac	p.H120Y	KRTCAP2_ENST00000490672.1_5'UTR|KRTCAP2_ENST00000295682.4_Silent_p.L78L																							AGGATACAGTGAGCGAGAACA	0.617000													13	32					0	0	0.002450	0	0
COG4	25839	broad.mit.edu	37	16	70543163	70543163	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70543163A>G	ENST00000323786.5	-	7	994	c.973T>C	c.(973-975)Ttc>Ctc	p.F325L	COG4_ENST00000393612.4_Missense_Mutation_p.F321L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	321					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TGCTTGATGAACTTGTCTACC	0.483000													9	298					0	0	0.006214	0	0
LRP5	4041	broad.mit.edu	37	11	68115341	68115341	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:68115341C>T	ENST00000294304.7	+	2	224	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	40	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTTGCCAACCGCCGGGACGT	0.632000													23	190					0	0	0.003954	0	0
LLGL2	3993	broad.mit.edu	37	17	73559178	73559178	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73559178C>T	ENST00000392550.3	+	7	729	c.612C>T	c.(610-612)atC>atT	p.I204I	LLGL2_ENST00000578363.1_Silent_p.I204I|LLGL2_ENST00000577200.1_Silent_p.I204I|LLGL2_ENST00000375227.4_Silent_p.I204I|LLGL2_ENST00000167462.5_Silent_p.I204I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	204					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.I204I(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAACCAGATCCTGATCGGCT	0.657000													26	36					0	0	0.006320	0	0
ZNF512	84450	broad.mit.edu	37	2	27821012	27821012	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:27821012G>A	ENST00000355467.4	+	3	251	c.168G>A	c.(166-168)tcG>tcA	p.S56S	ZNF512_ENST00000416005.2_Silent_p.S55S|ZNF512_ENST00000413371.2_5'UTR|ZNF512_ENST00000556601.1_5'UTR|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.S55S|ZNF512_ENST00000494548.1_3'UTR	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GTGGTTCATCGTCTGCATCTT	0.408000													32	101					0	0	0.003755	0	0
DSG2	1829	broad.mit.edu	37	18	29102165	29102165	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:29102165A>C	ENST00000261590.8	+	6	852	c.643A>C	c.(643-645)Aaa>Caa	p.K215Q	DSG2_ENST00000585206.1_Missense_Mutation_p.K215Q	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	215	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTACCTAAATAAAGATACAGG	0.388000													22	44					0	0	0.002780	0	0
RHBDL3	162494	broad.mit.edu	37	17	30632423	30632423	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:30632423A>G	ENST00000269051.4	+	7	859	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	RHBDL3_ENST00000536287.1_Missense_Mutation_p.Y184C|RHBDL3_ENST00000538145.1_Missense_Mutation_p.Y274C	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	282					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GGAGGGGTGTATGCTCTCGTC	0.567000													37	97					0	0	0.004878	0	0
LIN7C	55327	broad.mit.edu	37	11	27523109	27523109	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:27523109T>C	ENST00000278193.2	-	3	181	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	LIN7C_ENST00000524596.1_Intron	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	54	L27.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						GACATGTTCATATACCTGTAA	0.348000													33	56					0	0	0.003271	0	0
CENPE	1062	broad.mit.edu	37	4	104066984	104066984	+	Splice_Site	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:104066984A>T	ENST00000265148.3	-	30	4503		c.e30+1		CENPE_ENST00000380026.3_Splice_Site	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATGAAACCTACTTTAGCTAC	0.308000													19	51					0	0	0.006122	0	0
C5orf15	56951	broad.mit.edu	37	5	133295523	133295523	+	Missense_Mutation	SNP	G	G	A	rs11540542		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:133295523G>A	ENST00000231512.3	-	2	530	c.328C>T	c.(328-330)Cct>Tct	p.P110S	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	110						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TGAGACAGAGGAGTAGGCGAG	0.493000													8	34					0	0	0.006214	0	0
CNOT1	23019	broad.mit.edu	37	16	58621689	58621689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:58621689G>A	ENST00000317147.5	-	4	636	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q102*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q102*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	102					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCAACCTTCTGATAGTGCAAT	0.363000													24	57					0	0	0.003954	0	0
PFDN5	5204	broad.mit.edu	37	12	53689715	53689715	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:53689715G>A	ENST00000551018.1	+	2	442	c.165G>A	c.(163-165)aaG>aaA	p.K55K	PFDN5_ENST00000351500.3_Intron|PFDN5_ENST00000334478.4_Silent_p.K55K|PFDN5_ENST00000550846.1_Intron	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	55					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						TGCTGAACAAGAGCAACGAGG	0.517000													18	32					0	0	0.001882	0	0
GRIK3	2899	broad.mit.edu	37	1	37267622	37267622	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:37267622C>T	ENST00000373091.3	-	16	2606	c.2590G>A	c.(2590-2592)Gat>Aat	p.D864N		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	864					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGGATCTCATCGGCCACGGTG	0.582000													12	33					0	0	0.001368	0	0
ITGAM	3684	broad.mit.edu	37	16	31288291	31288291	+	Silent	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:31288291C>G	ENST00000544665.3	+	11	1205	c.1134C>G	c.(1132-1134)gtC>gtG	p.V378V	ITGAM_ENST00000287497.8_Silent_p.V378V	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	378					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGGTGGAGTCTTTCTATATA	0.498000													12	18					0	0	0.000978	0	0
TEP1	7011	broad.mit.edu	37	14	20848088	20848088	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20848088C>A	ENST00000262715.5	-	35	5168		c.e35+1		TEP1_ENST00000545983.1_Splice_Site|TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GATTGTCATACCTGCCAAGTT	0.507000													16	56					0.00400662	0.00498718	0.004007	1	0
CDC6	990	broad.mit.edu	37	17	38458227	38458227	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38458227A>G	ENST00000209728.4	+	12	2128	c.1657A>G	c.(1657-1659)Aat>Gat	p.N553D		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	553					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TTTAATTGGAAATATCTTAGC	0.363000													48	131					0	0	0.003610	0	0
PALLD	23022	broad.mit.edu	37	4	169819719	169819719	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:169819719G>A	ENST00000335742.7	+	14	3158	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Missense_Mutation_p.E776K|PALLD_ENST00000261509.6_Missense_Mutation_p.E759K|PALLD_ENST00000507735.1_Missense_Mutation_p.E272K|PALLD_ENST00000512127.1_Missense_Mutation_p.E377K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	983					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)		TCCTGTGGATGAATCAGGTGA	0.408000									Pancreatic Cancer, Familial Clustering of				12	57					0	0	0.000978	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018495	112018495	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:112018495C>T	ENST00000374566.3	-	9	1367	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.G284S	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	284	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATTCACAGCCATCTCTTCCC	0.393000													79	51					0	0	0.003610	0	0
TCHP	84260	broad.mit.edu	37	12	110345365	110345365	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110345365A>T	ENST00000312777.5	+	6	774	c.560A>T	c.(559-561)tAt>tTt	p.Y187F	TCHP_ENST00000405876.4_Missense_Mutation_p.Y187F	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	187	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AACAAACGGTATGAAAATGAA	0.507000													28	83					0	0	0.007291	0	0
LLGL2	3993	broad.mit.edu	37	17	73559467	73559467	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73559467C>G	ENST00000392550.3	+	8	866	c.749C>G	c.(748-750)tCt>tGt	p.S250C	LLGL2_ENST00000578363.1_Missense_Mutation_p.S250C|LLGL2_ENST00000577200.1_Missense_Mutation_p.S250C|LLGL2_ENST00000375227.4_Missense_Mutation_p.S250C|LLGL2_ENST00000167462.5_Missense_Mutation_p.S250C	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	250					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCTGTCACTCTGACGGCAGC	0.652000													17	61					0	0	0.007413	0	0
DDB2	1643	broad.mit.edu	37	11	47237917	47237917	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:47237917T>C	ENST00000256996.4	+	2	353	c.158T>C	c.(157-159)cTc>cCc	p.L53P	DDB2_ENST00000378601.3_Missense_Mutation_p.L53P|DDB2_ENST00000378603.3_Missense_Mutation_p.L53P|DDB2_ENST00000378600.3_Missense_Mutation_p.L53P	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	53					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TCAGACTGCCTCTGGGTGGGG	0.557000			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				50	148					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100678716	100678716	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:100678716C>G	ENST00000306151.4	+	3	4083	c.4019C>G	c.(4018-4020)aCa>aGa	p.T1340R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1340	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCTTTAACAAGTATACCT	0.463000													115	307					0	0	0.003610	0	0
ACSL6	23305	broad.mit.edu	37	5	131310491	131310491	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:131310491G>T	ENST00000379244.1	-	11	1189	c.953C>A	c.(952-954)tCc>tAc	p.S318Y	ACSL6_ENST00000543479.1_Missense_Mutation_p.S318Y|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000296869.4_Missense_Mutation_p.S343Y|ACSL6_ENST00000379264.2_Intron|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000544770.1_Intron|ACSL6_ENST00000379240.1_Intron|ACSL6_ENST00000431707.1_Intron|ACSL6_ENST00000379272.2_Intron|ACSL6_ENST00000379249.3_Missense_Mutation_p.S318Y|ACSL6_ENST00000379246.1_Intron			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	318					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCAAATAGGAAATGTGCAC	0.542000													10	23					0.00621372	0.00770942	0.006214	1	0
SGSM2	9905	broad.mit.edu	37	17	2264993	2264993	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:2264993G>C	ENST00000268989.3	+	3	373	c.196G>C	c.(196-198)Gac>Cac	p.D66H	SGSM2_ENST00000426855.2_Missense_Mutation_p.D66H|SGSM2_ENST00000574563.1_Missense_Mutation_p.D66H	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	66	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCTGCGCAGTGACAAGATGGC	0.607000													13	61					0	0	0.002450	0	0
FAT2	2196	broad.mit.edu	37	5	150931089	150931089	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:150931089C>T	ENST00000261800.5	-	6	4247	c.4235G>A	c.(4234-4236)aGa>aAa	p.R1412K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1412	Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTCGACCTTCTCCTGGTATC	0.537000													33	64					0	0	0.002096	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			52	36					0	0	0.003610	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162216	23162216	+	RNA	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:23162216C>G	ENST00000390316.2	+	0	424																											ATGAGGCTGACTATTACTGTC	0.567000													19	66					0	0	0.008871	0	0
NOTCH2	4853	broad.mit.edu	37	1	120462024	120462024	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:120462024C>T	ENST00000256646.2	-	31	5911	c.5692G>A	c.(5692-5694)Gat>Aat	p.D1898N		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1898					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACCTGCATCCAGGAGACGC	0.617000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				25	88					0	0	0.003954	0	0
RHPN1	114822	broad.mit.edu	37	8	144462009	144462009	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144462009A>G	ENST00000289013.6	+	9	1057	c.956A>G	c.(955-957)gAg>gGg	p.E319G		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	319	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GTGGCAGCCGAGTACAGGCTA	0.667000													8	27					0	0	0.004482	0	0
CLTC	1213	broad.mit.edu	37	17	57763022	57763022	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:57763022A>C	ENST00000269122.3	+	30	4954	c.4680A>C	c.(4678-4680)gaA>gaC	p.E1560D	CLTC_ENST00000393043.1_Missense_Mutation_p.E1560D|CLTC_ENST00000579456.1_Missense_Mutation_p.E497D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1560	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTTGCAGGAAGAAAAAAGAG	0.398000			T	"""ALK, TFE3"""	"""ALCL, renal """								38	110					0	0	0.007835	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493553	102493553	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:102493553T>C	ENST00000360184.4	+	45	8978	c.8814T>C	c.(8812-8814)gtT>gtC	p.V2938V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2938	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGATTGGTGTTAGTGGAGCAG	0.463000													116	313					0	0	0.003610	0	0
AKAP13	11214	broad.mit.edu	37	15	86123759	86123759	+	Silent	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:86123759A>T	ENST00000394518.2	+	7	2555	c.2460A>T	c.(2458-2460)acA>acT	p.T820T	AKAP13_ENST00000361243.2_Silent_p.T820T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	820					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AACTACATACAGCTACAGATT	0.498000													76	184					0	0	0.003610	0	0
DENND3	22898	broad.mit.edu	37	8	142148141	142148141	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:142148141G>A	ENST00000519811.1	+	3	476	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	DENND3_ENST00000262585.2_Missense_Mutation_p.E56K|DENND3_ENST00000518347.1_Missense_Mutation_p.E136K|DENND3_ENST00000424248.1_Missense_Mutation_p.E56K			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	56	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGGCCACTGAACCTAAGGA	0.572000													5	19					0	0	0.001168	0	0
CCL14	6358	broad.mit.edu	37	17	34310878	34310878	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:34310878T>C	ENST00000480944.2	-	2	2713	c.307A>G	c.(307-309)Aag>Gag	p.K103E	CCL14_ENST00000435911.2_Missense_Mutation_p.K97E|CCL14_ENST00000536149.1_Missense_Mutation_p.K97E|CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000586216.1_3'UTR|CCL14_ENST00000394509.4_Missense_Mutation_p.K81E			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	81					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGACCCACTTGTCACTGGGG	0.547000													32	102					0	0	0.003271	0	0
TOP3A	7156	broad.mit.edu	37	17	18217940	18217940	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:18217940G>C	ENST00000321105.5	-	1	367	c.153C>G	c.(151-153)gaC>gaG	p.D51E	TOP3A_ENST00000542570.1_5'UTR|TOP3A_ENST00000582230.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	51	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTGACAGCAGGTCGGCGATCC	0.652000													14	41					0	0	0.004990	0	0
PDLIM2	64236	broad.mit.edu	37	8	22442884	22442884	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:22442884C>G	ENST00000265810.4	+	5	627	c.512C>G	c.(511-513)tCc>tGc	p.S171C	PDLIM2_ENST00000308354.7_Missense_Mutation_p.S421C|PDLIM2_ENST00000409417.1_Missense_Mutation_p.S171C|PDLIM2_ENST00000409141.1_Missense_Mutation_p.S171C|PDLIM2_ENST00000397760.4_Missense_Mutation_p.S171C|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000339162.7_Missense_Mutation_p.S171C|PDLIM2_ENST00000397761.2_Missense_Mutation_p.S171C	NM_176871.3	NP_789847.1	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	171						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GACCGCCTGTCCTACTCAGGC	0.672000													5	30					0	0	0.001168	0	0
CCDC94	55702	broad.mit.edu	37	19	4258352	4258352	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:4258352G>A	ENST00000262962.7	+	5	587	c.519G>A	c.(517-519)ctG>ctA	p.L173L		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	173										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		AGGCTATGCTGAGGCAGCACC	0.667000													7	19					0	0	0.006214	0	0
MMP28	79148	broad.mit.edu	37	17	34105915	34105915	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:34105915C>A	ENST00000250144.8	-	3	685	c.356G>T	c.(355-357)cGt>cTt	p.R119L		NM_001032278.1	NP_001027449.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 28	119					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGTTTCTTACGCCTCATTTT	0.507000													37	104					4.90274e-10	6.34959e-10	0.006230	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100821443	100821443	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:100821443G>A	ENST00000268070.4	-	4	885	c.780C>T	c.(778-780)gtC>gtT	p.V260V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	260	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCATGTTCATGACGGTCAGGA	0.622000													31	119					0	0	0.002096	0	0
RPUSD1	113000	broad.mit.edu	37	16	836923	836923	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:836923C>T	ENST00000561734.1	-	4	658	c.415G>A	c.(415-417)Gag>Aag	p.E139K	RPUSD1_ENST00000565809.1_Silent_p.V104V|RPUSD1_ENST00000007264.2_Missense_Mutation_p.E139K|RPUSD1_ENST00000567114.1_Missense_Mutation_p.E10K			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	139					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TTTGGGTTCTCACAACCTGGG	0.647000													21	85					0	0	0.002299	0	0
TSSC2	650368	broad.mit.edu	37	11	3430129	3430129	+	RNA	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:3430129C>T	ENST00000529482.1	+	0	2258																											CAAATCCTTTCGAGCAGCGCC	0.547000													18	13					0	0	0.007413	0	0
ANKS1B	56899	broad.mit.edu	37	12	100378001	100378001	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:100378001C>T	ENST00000547776.2	-	1	14	c.15G>A	c.(13-15)caG>caA	p.Q5Q	ANKS1B_ENST00000547010.1_5'UTR|ANKS1B_ENST00000329257.7_Silent_p.Q5Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	5						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCAGCAGCTCCTGGTCCTTCC	0.642000													13	47					0	0	0.002450	0	0
PLOD2	5352	broad.mit.edu	37	3	145796998	145796998	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:145796998C>T	ENST00000282903.5	-	13	1582	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	PLOD2_ENST00000360060.3_Missense_Mutation_p.G469R|PLOD2_ENST00000494950.1_Missense_Mutation_p.G414R|PLOD2_ENST00000461497.1_Missense_Mutation_p.G129R|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	469					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AGTGTCTTTCCTTTAATTAAG	0.348000													29	53					0	0	0.005443	0	0
HEYL	26508	broad.mit.edu	37	1	40105218	40105218	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:40105218C>G	ENST00000372852.3	-	1	399	c.80G>C	c.(79-81)aGc>aCc	p.S27T		NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	27					multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGGCCCTTACCTCAGCTGGCC	0.746000													5	13					0	0	0.000602	0	0
CLDN12	9069	broad.mit.edu	37	7	90042400	90042400	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:90042400G>A	ENST00000535571.1	+	2	719	c.410G>A	c.(409-411)gGg>gAg	p.G137E	CTB-13L3.1_ENST00000480135.1_RNA|CLDN12_ENST00000287916.4_Missense_Mutation_p.G137E|CLDN12_ENST00000394605.2_Missense_Mutation_p.G137E	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	137					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CTGGTGGCTGGGCTGCTATTT	0.498000													38	129					0	0	0.004878	0	0
PITX2	5308	broad.mit.edu	37	4	111539518	111539518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:111539518G>A	ENST00000394595.3	-	4	766	c.511C>T	c.(511-513)Caa>Taa	p.Q171*	PITX2_ENST00000306732.3_Silent_p.L246L|PITX2_ENST00000354925.2_Silent_p.L239L|PITX2_ENST00000355080.5_Silent_p.L193L|PITX2_ENST00000394598.2_Silent_p.L239L			Q99697	PITX2_HUMAN	paired-like homeodomain 2	0					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCAGGCTGTTGAGACTGGAGC	0.582000													24	65					0	0	0.003330	0	0
MEP1B	4225	broad.mit.edu	37	18	29775413	29775413	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:29775413C>T	ENST00000269202.6	+	5	262	c.215C>T	c.(214-216)cCt>cTt	p.P72L	MEP1B_ENST00000581447.1_Missense_Mutation_p.P72L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	72	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TATAGATGGCCTCATACCATT	0.328000													16	39					0	0	0.008871	0	0
TRIM67	440730	broad.mit.edu	37	1	231342533	231342533	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:231342533G>A	ENST00000444294.3	+	7	2668	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	TRIM67_ENST00000449018.3_Missense_Mutation_p.D544N|TRIM67_ENST00000366652.2_Missense_Mutation_p.D606N|TRIM67_ENST00000366653.5_Missense_Mutation_p.D606N	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	606	B30.2/SPRY.|Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCAGACATCCGATGGTGAGCA	0.502000													15	35					0	0	0.004990	0	0
LRRN1	57633	broad.mit.edu	37	3	3886380	3886380	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:3886380A>T	ENST00000319331.3	+	2	816	c.55A>T	c.(55-57)Atg>Ttg	p.M19L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	19						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGGCCTACTAATGACTTCATT	0.458000													31	63					0	0	0.008361	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23056919	23056919	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:23056919C>T	ENST00000221132.3	-	8	938	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	292					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCATTGTCCTCAGCCCCAGGC	0.587000													39	58					0	0	0.007835	0	0
BTG2	7832	broad.mit.edu	37	1	203276382	203276382	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:203276382G>C	ENST00000290551.4	+	2	364	c.293G>C	c.(292-294)aGc>aCc	p.S98T		NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	98					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CTGCTGCCCAGCGAGCTGACC	0.642000													17	80					0	0	0.004007	0	0
EPS8L1	54869	broad.mit.edu	37	19	55593171	55593171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:55593171G>C	ENST00000201647.6	+	9	861	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	EPS8L1_ENST00000586329.1_Missense_Mutation_p.E251Q|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E142Q|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000540810.1_Missense_Mutation_p.E205Q	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	269						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGACGACGTAGAGAGCTTTGT	0.667000													19	48					0	0	0.008871	0	0
CSHL1	1444	broad.mit.edu	37	17	61987572	61987572	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:61987572C>T	ENST00000450719.3	-	3	376	c.139G>A	c.(139-141)Gac>Aac	p.D47N	CSHL1_ENST00000259003.10_Missense_Mutation_p.D79N|CSHL1_ENST00000309894.5_Missense_Mutation_p.D141N|CSHL1_ENST00000561003.1_Missense_Mutation_p.D58N|CSHL1_ENST00000346606.6_Missense_Mutation_p.D47N|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000438387.2_Missense_Mutation_p.D58N|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	141						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						AGGTGATAGTCATCGCTGTCC	0.592000													38	84					0	0	0.002222	0	0
SLC8A3	6547	broad.mit.edu	37	14	70512799	70512799	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:70512799C>T	ENST00000381269.2	-	8	3402	c.2649G>A	c.(2647-2649)agG>agA	p.R883R	SLC8A3_ENST00000216568.7_Silent_p.R254R|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000357887.3_Silent_p.R881R|SLC8A3_ENST00000528359.1_Silent_p.R881R|SLC8A3_ENST00000394330.2_Silent_p.R240R|SLC8A3_ENST00000534137.1_Silent_p.R880R|SLC8A3_ENST00000356921.2_Silent_p.R877R	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	883					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGCGGCCGCCTTCGGTACA	0.602000											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	35					0	0	0.008291	0	0
DHX34	9704	broad.mit.edu	37	19	47865850	47865850	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:47865850G>C	ENST00000328771.4	+	6	1842	c.1493G>C	c.(1492-1494)gGa>gCa	p.G498A	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	498	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACGGGCCCCGGAGTCTGCTTC	0.657000													12	27					0	0	0.001855	0	0
AQR	9716	broad.mit.edu	37	15	35212624	35212624	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:35212624A>C	ENST00000156471.5	-	14	1355	c.1130T>G	c.(1129-1131)cTc>cGc	p.L377R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	377						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CACCTGGTGGAGTGTGTTTGA	0.318000													9	28					0	0	0.000978	0	0
TOX	9760	broad.mit.edu	37	8	59728257	59728257	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:59728257C>G	ENST00000361421.1	-	7	1252	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	344						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTTGAGATGTCTTCACGTCAA	0.507000													27	74					0	0	0.006320	0	0
MGEA5	10724	broad.mit.edu	37	10	103558904	103558904	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:103558904C>T	ENST00000361464.3	-	9	1899	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.D449N|MGEA5_ENST00000370094.3_Missense_Mutation_p.D502N|MGEA5_ENST00000357797.5_Missense_Mutation_p.D449N	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	502					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTCTCTTTATCAGTGTCCATT	0.398000													96	287					0	0	0.003610	0	0
PUS7L	83448	broad.mit.edu	37	12	44148459	44148459	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:44148459A>T	ENST00000416848.2	-	2	1078	c.590T>A	c.(589-591)gTa>gAa	p.V197E	PUS7L_ENST00000551923.1_Missense_Mutation_p.V197E|PUS7L_ENST00000553166.1_Missense_Mutation_p.V197E|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.V197E	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	197					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ATTTGGTTTTACAACAATTTC	0.323000													30	73					0	0	0.007291	0	0
SPTBN5	51332	broad.mit.edu	37	15	42170747	42170747	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:42170747T>A	ENST00000320955.6	-	17	3490	c.3263A>T	c.(3262-3264)cAg>cTg	p.Q1088L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1088					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTTGTTCCTGTACTTGCTT	0.642000													10	33					0	0	0.008291	0	0
GPNMB	10457	broad.mit.edu	37	7	23296615	23296615	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23296615G>A	ENST00000258733.4	+	4	767	c.472G>A	c.(472-474)Gat>Aat	p.D158N	GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000539136.1_Missense_Mutation_p.D59N|GPNMB_ENST00000381990.2_Missense_Mutation_p.D158N|GPNMB_ENST00000409458.3_Missense_Mutation_p.D158N			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	158					negative regulation of cell proliferation	melanosome		p.D158H(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGTCTTCCCTGATGGGAAACC	0.483000													33	123					0	0	0.002836	0	0
STAM2	10254	broad.mit.edu	37	2	152980445	152980445	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:152980445T>C	ENST00000263904.4	-	13	1533	c.1184A>G	c.(1183-1185)tAt>tGt	p.Y395C		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	395					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTGAACTGGATATGTCTATTA	0.358000													51	39					0	0	0.003610	0	0
DNAH3	55567	broad.mit.edu	37	16	20975839	20975839	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:20975839T>C	ENST00000261383.3	-	53	9366	c.9367A>G	c.(9367-9369)Acc>Gcc	p.T3123A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3123	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGACAGGGGTGCCTAACTGC	0.438000													62	197					0	0	0.003610	0	0
PENK	5179	broad.mit.edu	37	8	57353869	57353869	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:57353869C>T	ENST00000314922.3	-	2	842	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	PENK_ENST00000451791.2_Missense_Mutation_p.E256K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	256					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTTTCCATTTCAGGAACTTCT	0.502000													105	175					0	0	0.003610	0	0
UBR4	23352	broad.mit.edu	37	1	19447716	19447716	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:19447716T>C	ENST00000375267.2	-	68	10111	c.10108A>G	c.(10108-10110)Agc>Ggc	p.S3370G	UBR4_ENST00000375217.2_Missense_Mutation_p.S3363G|UBR4_ENST00000375254.3_Missense_Mutation_p.S3370G|UBR4_ENST00000375226.2_Missense_Mutation_p.S3346G			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3370	Ser-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTTTCTTGCTCTTTTTAGTG	0.473000													28	96					0	0	0.003755	0	0
AFF4	27125	broad.mit.edu	37	5	132223808	132223808	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:132223808T>A	ENST00000265343.5	-	15	3156	c.2777A>T	c.(2776-2778)aAg>aTg	p.K926M		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	926					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTGTGCTTTAGCTTTTT	0.274000													14	36					0	0	0.002450	0	0
CHL1	10752	broad.mit.edu	37	3	367669	367669	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:367669A>T	ENST00000256509.2	+	4	761	c.119A>T	c.(118-120)cAg>cTg	p.Q40L	CHL1_ENST00000397491.2_Missense_Mutation_p.Q40L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	40	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATCATAAAACAGTCAAAAGTC	0.338000													12	39					0	0	0.000978	0	0
ALPK3	57538	broad.mit.edu	37	15	85401501	85401501	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:85401501G>A	ENST00000258888.5	+	6	4305	c.4138G>A	c.(4138-4140)Ggg>Agg	p.G1380R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1380					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCAGGAGACGGGGAGGCAAC	0.652000													4	11					0	0	0.000248	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959285	117959285	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:117959285G>A	ENST00000310164.2	+	4	585	c.78G>A	c.(76-78)ctG>ctA	p.L26L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATTCCATGCTGAGGTCCCTGG	0.572000													45	28					0	0	0.002222	0	0
SH2D4A	63898	broad.mit.edu	37	8	19190582	19190582	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:19190582G>A	ENST00000265807.3	+	3	709	c.298G>A	c.(298-300)Gag>Aag	p.E100K	SH2D4A_ENST00000519207.1_Missense_Mutation_p.E100K|SH2D4A_ENST00000518040.1_Missense_Mutation_p.E55K	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	100						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AATTATTGCTGAGAGGGCCCG	0.458000													31	103					0	0	0.001786	0	0
SLC10A6	345274	broad.mit.edu	37	4	87770173	87770173	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:87770173G>A	ENST00000273905.6	-	1	243	c.96C>T	c.(94-96)ctC>ctT	p.L32L	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	32						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTGTGAAAACGAGCTCCAGGT	0.562000													24	61					0	0	0.002780	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	70					0	0	0.001168	0	0
NT5C2	22978	broad.mit.edu	37	10	104858711	104858711	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:104858711G>T	ENST00000343289.5	-	9	751	c.664C>A	c.(664-666)Ctt>Att	p.L222I	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Missense_Mutation_p.L222I|NT5C2_ENST00000423468.2_Missense_Mutation_p.L193I	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	222					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TACTTCTCAAGATTTTCAACT	0.294000													9	27					9.70103e-10	1.25427e-09	0.008291	1	0
C15orf52	388115	broad.mit.edu	37	15	40627555	40627555	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:40627555A>G	ENST00000397536.2	-	7	814	c.779T>C	c.(778-780)cTg>cCg	p.L260P	C15orf52_ENST00000559313.1_Missense_Mutation_p.L470P			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	470										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGTACTTCCAGCTCAGCCTG	0.662000													32	67					0	0	0.004289	0	0
PCSK6	5046	broad.mit.edu	37	15	101906500	101906500	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:101906500C>T	ENST00000348070.1	-	14	1755	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	PCSK6_ENST00000398181.2_Missense_Mutation_p.E586K|PCSK6_ENST00000344273.2_Missense_Mutation_p.E586K|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.E421K|PCSK6_ENST00000358417.3_Missense_Mutation_p.E586K	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	587	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCATGAATTCCCAGTTTGTA	0.542000													7	61					0	0	0.001984	0	0
CSNK1G1	53944	broad.mit.edu	37	15	64592686	64592686	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:64592686T>C	ENST00000303052.7	-	2	436	c.13A>G	c.(13-15)Agt>Ggt	p.S5G	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.S5G|CTD-2116N17.1_ENST00000606793.1_5'UTR|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.S5G	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	5					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTTTCCCTACTAGGATGGTCC	0.448000													51	148					0	0	0.003610	0	0
WNK4	65266	broad.mit.edu	37	17	40947024	40947024	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:40947024C>T	ENST00000246914.5	+	14	2606	c.2585C>T	c.(2584-2586)cCa>cTa	p.P862L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	862					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACCAGCTCTCCACTTCCATTC	0.582000													51	121					0	0	0.003610	0	0
DCAF5	8816	broad.mit.edu	37	14	69521082	69521082	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:69521082G>T	ENST00000341516.5	-	9	2468	c.2321C>A	c.(2320-2322)cCt>cAt	p.P774H	DCAF5_ENST00000554215.1_Missense_Mutation_p.P692H|DCAF5_ENST00000557386.1_Missense_Mutation_p.P773H|DCAF5_ENST00000556847.1_Missense_Mutation_p.P692H	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	774						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGTTTCAAAAGGGTGCTCTAC	0.597000													27	108					2.47511e-08	3.17873e-08	0.008361	1	0
ZFP36L1	677	broad.mit.edu	37	14	69256333	69256333	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:69256333T>G	ENST00000439696.2	-	2	1235	c.934A>C	c.(934-936)Agc>Cgc	p.S312R	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.S312R	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	312	Poly-Ser.				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCACTGTGGCTGCTGCTGGAG	0.597000											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	172					0	0	0.003610	0	0
NANOS3	342977	broad.mit.edu	37	19	13988429	13988429	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:13988429C>T	ENST00000397555.2	+	2	310	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	NANOS3_ENST00000339133.5_Missense_Mutation_p.H123Y|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	104					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGAGCGCGCCCACACCCGACG	0.652000													12	22					0	0	0.000978	0	0
VIM	7431	broad.mit.edu	37	10	17275816	17275816	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:17275816C>T	ENST00000544301.1	+	5	1181	c.768C>T	c.(766-768)atC>atT	p.I256I	VIM_ENST00000224237.5_Silent_p.I256I|RP11-124N14.3_ENST00000456355.1_RNA	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	256	Linker 12.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGTCCAAATCGATGTGGATG	0.537000													64	91					0	0	0.003610	0	0
BCL2L13	23786	broad.mit.edu	37	22	18185037	18185037	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:18185037A>C	ENST00000317582.5	+	6	832	c.485A>C	c.(484-486)cAa>cCa	p.Q162P	BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000493680.1_Missense_Mutation_p.Q162P|BCL2L13_ENST00000399782.1_Missense_Mutation_p.Q162P|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000538149.1_Missense_Mutation_p.Q38P	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	162					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TTGCTACGACAAATGCTTTTG	0.398000													38	162					0	0	0.002222	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027739	92027739	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:92027739T>G	ENST00000265742.3	+	20	3122	c.2746T>G	c.(2746-2748)Ttg>Gtg	p.L916V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	916							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCTGAGCTTTTGGAACTTGG	0.507000													16	23					0	0	0.003163	0	0
HORMAD1	84072	broad.mit.edu	37	1	150679028	150679028	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:150679028C>A	ENST00000368993.2	-	10	910		c.e10+1		HORMAD1_ENST00000368995.4_Splice_Site|HORMAD1_ENST00000361824.2_Splice_Site|HORMAD1_ENST00000322343.7_Splice_Site			Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AATACACTTACACTTGTATAA	0.294000													13	106					6.31663e-08	8.05842e-08	0.003163	1	0
AASDH	132949	broad.mit.edu	37	4	57215543	57215543	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:57215543G>T	ENST00000205214.6	-	11	2554	c.2374C>A	c.(2374-2376)Cat>Aat	p.H792N	AASDH_ENST00000502617.1_Missense_Mutation_p.H792N|AASDH_ENST00000434343.2_Missense_Mutation_p.H307N|AASDH_ENST00000513376.1_Missense_Mutation_p.H692N|AASDH_ENST00000451613.1_Missense_Mutation_p.H792N|AASDH_ENST00000602986.1_Missense_Mutation_p.H639N	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	792					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTCATTCTATGAGAATGGGAA	0.418000													31	112					1.88708e-17	2.52488e-17	0.008361	1	0
RPS6KA1	6195	broad.mit.edu	37	1	26885394	26885394	+	Missense_Mutation	SNP	G	G	T	rs147534995		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:26885394G>T	ENST00000374168.2	+	14	1335	c.1181G>T	c.(1180-1182)cGt>cTt	p.R394L	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R403L|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R302L|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R383L|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R302L|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R378L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	394					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGCAAGCCTCGTGCCCCGCAG	0.637000													24	55					4.47668e-21	6.0959e-21	0.003954	1	0
NAGPA	51172	broad.mit.edu	37	16	5083318	5083318	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:5083318C>T	ENST00000312251.3	-	2	517	c.498G>A	c.(496-498)caG>caA	p.Q166Q	NAGPA_ENST00000381955.3_Silent_p.Q166Q|NAGPA_ENST00000564922.1_Intron|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	166					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ACTGCGCGTTCTGCAGCCCCC	0.697000													14	22					0	0	0.003163	0	0
MYL12A	10627	broad.mit.edu	37	18	3255845	3255845	+	Nonsense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:3255845A>T	ENST00000217652.3	+	4	840	c.445A>T	c.(445-447)Aaa>Taa	p.K149*	RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000579226.1_Nonsense_Mutation_p.K149*|MYL12A_ENST00000580887.1_Nonsense_Mutation_p.K155*|RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000578611.1_Nonsense_Mutation_p.K149*|MYL12A_ENST00000536605.1_Nonsense_Mutation_p.K149*	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	149	EF-hand 3.					myosin complex	calcium ion binding|protein binding			NS(1)|kidney(2)|large_intestine(2)	5						ACCTATTGATAAAAAGGGGAA	0.433000													13	30					0	0	0.001368	0	0
KIAA1033	23325	broad.mit.edu	37	12	105558026	105558026	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:105558026G>A	ENST00000332180.5	+	31	3382	c.3295G>A	c.(3295-3297)Gat>Aat	p.D1099N	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	1099					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AGCCAGTCAAGATGAAAAACT	0.428000													33	74					0	0	0.002836	0	0
WHSC1	7468	broad.mit.edu	37	4	1957573	1957573	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:1957573A>G	ENST00000382895.3	+	16	3103	c.2672A>G	c.(2671-2673)tAc>tGc	p.Y891C	WHSC1_ENST00000382891.5_Missense_Mutation_p.Y891C|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382892.2_Missense_Mutation_p.Y891C|WHSC1_ENST00000382888.3_Missense_Mutation_p.Y239C|WHSC1_ENST00000508803.1_Missense_Mutation_p.Y891C	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	891	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTGGGAACTACAGGTGTGAG	0.433000			T	IGH@	MM								30	47					0	0	0.008361	0	0
SIMC1	375484	broad.mit.edu	37	5	175717546	175717546	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:175717546G>A	ENST00000443967.1	+	4	1369	c.962G>A	c.(961-963)gGa>gAa	p.G321E	SIMC1_ENST00000429602.2_Missense_Mutation_p.G340E|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000341199.6_Intron					SUMO-interacting motifs containing 1																		CACTTACCGGGAGATGTGTTA	0.547000													8	183					0	0	0.001855	0	0
PLB1	151056	broad.mit.edu	37	2	28824168	28824168	+	Missense_Mutation	SNP	G	G	T	rs146498076	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:28824168G>T	ENST00000422425.2	+	36	2587	c.2543G>T	c.(2542-2544)gGc>gTc	p.G848V	PLB1_ENST00000327757.5_Missense_Mutation_p.G859V	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	859	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGATCGGAGGCAGCGATTTA	0.453000													21	24					6.21321e-17	8.29869e-17	0.002780	1	0
ABCA5	23461	broad.mit.edu	37	17	67257837	67257837	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:67257837G>A	ENST00000392676.3	-	25	3432	c.3368C>T	c.(3367-3369)gCt>gTt	p.A1123V	ABCA5_ENST00000392677.2_Missense_Mutation_p.A1124V|ABCA5_ENST00000588877.1_Missense_Mutation_p.A1123V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1123					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GGTGAAAGAAGCAATATAAGT	0.274000													9	25					0	0	0.000978	0	0
PAXIP1	22976	broad.mit.edu	37	7	154739621	154739621	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:154739621G>T	ENST00000404141.1	-	17	3068	c.2914C>A	c.(2914-2916)Ctc>Atc	p.L972I	PAXIP1_ENST00000397192.1_Missense_Mutation_p.L972I|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	972	BRCT 6.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACCTTAAAGAGTGGAGAAACG	0.448000													61	194					5.10508e-28	7.06433e-28	0.003610	1	0
MYOF	26509	broad.mit.edu	37	10	95110980	95110980	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:95110980G>A	ENST00000371501.4	-	35	4017	c.3895C>T	c.(3895-3897)Cct>Tct	p.P1299S	MYOF_ENST00000359263.4_Missense_Mutation_p.P1299S|MYOF_ENST00000371502.4_Missense_Mutation_p.P1299S|MYOF_ENST00000358334.5_Missense_Mutation_p.P1286S			Q9NZM1	MYOF_HUMAN	myoferlin	1299					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGACCACAGGCCTGATCCCC	0.498000													14	53					0	0	0.004990	0	0
NLRP4	147945	broad.mit.edu	37	19	56388434	56388434	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:56388434G>A	ENST00000301295.6	+	8	3020	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	NLRP4_ENST00000346986.5_Silent_p.L810L|NLRP4_ENST00000587891.1_Silent_p.L791L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	866							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATCAAAACCTGAAGATTCTGC	0.478000													58	172					0	0	0.003610	0	0
USP33	23032	broad.mit.edu	37	1	78177467	78177467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:78177467T>A	ENST00000370793.1	-	22	2810	c.2464A>T	c.(2464-2466)Aaa>Taa	p.K822*	USP33_ENST00000370794.3_Nonsense_Mutation_p.K791*|USP33_ENST00000357428.1_Nonsense_Mutation_p.K822*|USP33_ENST00000370792.3_Nonsense_Mutation_p.K814*	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	822	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTTCTTCTTTTTTCAATTTTC	0.328000													22	59					0	0	0.001882	0	0
WDFY3	23001	broad.mit.edu	37	4	85687004	85687004	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:85687004T>A	ENST00000322366.6	-	32	5554	c.5147A>T	c.(5146-5148)cAg>cTg	p.Q1716L	WDFY3_ENST00000295888.4_Missense_Mutation_p.Q1716L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1716						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAATCTGTCTGTTCAAGCCA	0.378000													22	79					0	0	0.002299	0	0
GPR98	84059	broad.mit.edu	37	5	90086879	90086879	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:90086879C>A	ENST00000405460.2	+	70	14329	c.14233C>A	c.(14233-14235)Ctg>Atg	p.L4745M	GPR98_ENST00000425867.2_Missense_Mutation_p.L406M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4745					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGAACTGGATCTGGAGAAGAG	0.443000													25	58					3.08376e-08	3.94722e-08	0.003330	1	0
ABHD10	55347	broad.mit.edu	37	3	111697910	111697910	+	Translation_Start_Site	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:111697910T>G	ENST00000534857.1	+	0	54				ABHD10_ENST00000273359.3_Start_Codon_SNP_p.M1R|ABHD10_ENST00000494817.1_Start_Codon_SNP_p.M1R			Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10							mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						ACTACGAAGATGGCGGTTGCG	0.672000													12	49					0	0	0.003163	0	0
SUCO	51430	broad.mit.edu	37	1	172546905	172546905	+	Splice_Site	DEL	T	T	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:172546905delT	ENST00000367723.4	+	12	1863	c.1739delT	c.(1738-1740)gtt>gt	p.V580fs	SUCO_ENST00000610051.1_Splice_Site_p.V392fs|SUCO_ENST00000608151.1_Splice_Site_p.V581fs|SUCO_ENST00000263688.3_Splice_Site_p.V429fs	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		ATTCTTTAGGTTGAGTTGCTA	0.289													24	79	---	---	---	---					
SLC20A1	6574	broad.mit.edu	37	2	113404397	113404433	+	Translation_Start_Site	DEL	CTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	CTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:113404397_113404433delCTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	ENST00000272542.3	+	0	531_567					NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1						phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						ACAACCACTACTCCAGAGAATGGCAACGCTGATTACCAGTACTACAGCTGCTACCGC	0.409													9	53	---	---	---	---					
TGFBR2	7048	broad.mit.edu	37	3	30713456	30713457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:30713456_30713457insC	ENST00000295754.5	+	4	1163_1164	c.781_782insC	c.(781-783)gccfs	p.A261fs	TGFBR2_ENST00000359013.4_Frame_Shift_Ins_p.A286fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	261	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGTCTATAAGGCCAAGCTGAAG	0.515													50	62	---	---	---	---					
DNAH1	25981	broad.mit.edu	37	3	52433606	52433607	+	Frame_Shift_Ins	INS	-	-	GGTGC			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:52433606_52433607insGGTGC	ENST00000420323.2	+	77	12748_12749	c.12487_12488insGGTGC	c.(12487-12489)gggfs	p.-4164fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCCCAAGTAGGGTGCTATATC	0.525													7	37	---	---	---	---					
ZDHHC19	131540	broad.mit.edu	37	3	195935333	195935355	+	Frame_Shift_Del	DEL	GCCCGAGTAGAGGCACAGGGACA	GCCCGAGTAGAGGCACAGGGACA	-	rs75505676	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:195935333_195935355delGCCCGAGTAGAGGCACAGGGACA	ENST00000296326.3	-	4	564_586	c.485_507delTGTCCCTGTGCCTCTACTCGGGC	c.(484-507)ctgtccctgtgcctctactcgggcfs	p.LSLCLYSG162fs	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	162						integral to membrane	acyltransferase activity|zinc ion binding	p.S168S(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CCAGCATGGCGCCCGAGTAGAGGCACAGGGACAGGACAAGCAG	0.610													20	40	---	---	---	---					
NOA1	84273	broad.mit.edu	37	4	57842717	57842743	+	In_Frame_Del	DEL	GCCCACTAAGTAGACGTCCCCACGGTA	GCCCACTAAGTAGACGTCCCCACGGTA	-	rs145154138		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:57842717_57842743delGCCCACTAAGTAGACGTCCCCACGGTA	ENST00000264230.4	-	1	2246_2272	c.1009_1035delTACCGTGGGGACGTCTACTTAGTGGGC	c.(1009-1035)taccgtggggacgtctacttagtgggcdel	p.YRGDVYLVG337del		NM_032313.2	NP_115689.1	Q8NC60	CD014_HUMAN	nitric oxide associated 1	337							GTP binding										CGTTGGTGGCGCCCACTAAGTAGACGTCCCCACGGTAGCGCCAGGAG	0.612													9	87	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153245449	153245450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:153245449_153245450insG	ENST00000281708.4	-	11	2970_2971	c.1741_1742insC	c.(1741-1743)cagfs	p.Q581fs	FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.Q581fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.Q501fs|FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.Q463fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.Q581fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.Q405fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	581					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.Q581*(2)|p.G579_Q581>E(1)|p.Q342*(1)|p.Q501*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTTAACGACTGGTGCCCTGTT	0.416			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								12	56	---	---	---	---					
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			10	399	---	---	---	---					
PTTG1	9232	broad.mit.edu	37	5	159849713	159849715	+	Splice_Site	DEL	CAG	CAG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:159849713_159849715delCAG	ENST00000393964.1	+	2	494		c.e2-1		PTTG1_ENST00000352433.5_Splice_Site|PTTG1_ENST00000519287.1_Splice_Site|PTTG1_ENST00000520452.1_Splice_Site	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		ACTTTTTCTTCAGCAATCAAAGC	0.424													20	94	---	---	---	---					
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del		NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral to membrane	protein serine/threonine kinase activity	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.730													3	4	---	---	---	---					
TLR4	7099	broad.mit.edu	37	9	120470999	120471017	+	Splice_Site	DEL	TTTATCCAGGTAATGAATC	TTTATCCAGGTAATGAATC	-	rs148067660	by1000genomes	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:120470999_120471017delTTTATCCAGGTAATGAATC	ENST00000355622.6	+	2	353_361	c.252_260delTTTATCCAGGTAATGAATC	c.(250-261)gatttatccagg>gag	p.DLSR84fs	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Splice_Site_p.DLSR44fs	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	84					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGGTGCTGGATTTATCCAGGTAATGAATCCACTTTTACA	0.438													43	132	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													11	193	---	---	---	---					
ALOX5	240	broad.mit.edu	37	10	45920479	45920480	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:45920479_45920480insG	ENST00000374391.2	+	6	786_787	c.733_734insG	c.(733-735)ttgfs	p.L245fs	ALOX5_ENST00000542434.1_Frame_Shift_Ins_p.L245fs	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	245	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CAACCCTGTGTTGATCCGGCGC	0.604													55	142	---	---	---	---					
SLK	9748	broad.mit.edu	37	10	105727602	105727619	+	In_Frame_Del	DEL	TTGGGAGATTATAGGAGA	TTGGGAGATTATAGGAGA	-	rs149480041		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:105727602_105727619delTTGGGAGATTATAGGAGA	ENST00000369755.3	+	1	644_661	c.99_116delTTGGGAGATTATAGGAGA	c.(97-117)ttttgggagattataggagaa>tta	p.33_39FWEIIGE>L	SLK_ENST00000335753.4_In_Frame_Del_p.33_39FWEIIGE>L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	33					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	p.E35D(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCGAAGACTTTTGGGAGATTATAGGAGAACTGGGCGAC	0.500													11	97	---	---	---	---					
AMBRA1	55626	broad.mit.edu	37	11	46563668	46563677	+	Frame_Shift_Del	DEL	CTCCAGCCTG	CTCCAGCCTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:46563668_46563677delCTCCAGCCTG	ENST00000458649.2	-	7	2308_2317	c.1890_1899delCAGGCTGGAG	c.(1888-1899)agcaggctggagfs	p.SRLE630fs	AMBRA1_ENST00000528950.1_Frame_Shift_Del_p.SRLE630fs|AMBRA1_ENST00000314845.3_Frame_Shift_Del_p.SRLE540fs|AMBRA1_ENST00000298834.3_Frame_Shift_Del_p.SRLE630fs|AMBRA1_ENST00000533727.1_Frame_Shift_Del_p.SRLE540fs|AMBRA1_ENST00000534300.1_Frame_Shift_Del_p.SRLE630fs|AMBRA1_ENST00000426438.1_Frame_Shift_Del_p.SRLE630fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	630	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCTGCTCAACTCCAGCCTGCTGGAGCTGG	0.595													7	64	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													3	3	---	---	---	---					
PSEN1	5663	broad.mit.edu	37	14	73659343	73659369	+	Splice_Site	DEL	TTTTTTCAGGGAAGTGTTTAAAACCTA	TTTTTTCAGGGAAGTGTTTAAAACCTA	-	rs63750311		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:73659343_73659369delTTTTTTCAGGGAAGTGTTTAAAACCTA	ENST00000324501.5	+	7	820_838	c.548_566delTTTTTTCAGGGAAGTGTTTAAAACCTA	c.(547-567)gttttttcagggaagtgttta>ga	p.VFSGKCL183del	PSEN1_ENST00000557511.1_Splice_Site_p.VFSGKCL183del|PSEN1_ENST00000357710.4_Splice_Site_p.VFSGKCL179del|PSEN1_ENST00000394164.1_Splice_Site_p.VFSGKCL179del|PSEN1_ENST00000261970.3_Splice_Site_p.VFSGKCL183del|PSEN1_ENST00000344094.3_Splice_Site_p.VFSGKCL183del|PSEN1_ENST00000406768.1_Splice_Site_p.VFSGKCL91del	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	183					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTGTGTAATTTTTTTTCAGGGAAGTGTTTAAAACCTATAACGTTGCT	0.352													14	100	---	---	---	---					
ENTPD5	957	broad.mit.edu	37	14	74438590	74438590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:74438590delA	ENST00000334696.6	-	14	1368	c.1049delT	c.(1048-1050)ttafs	p.L350fs	ENTPD5_ENST00000557325.1_Frame_Shift_Del_p.L350fs	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	350					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TTCAACTTTTAAAATACCCCC	0.378													64	215	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23330999	23330999	+	RNA	DEL	C	C	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:23330999delC	ENST00000560464.1	-	0	1010																											GGCAGGTGTGCCCCCTGGGGA	0.572													12	42	---	---	---	---					
THAP10	56906	broad.mit.edu	37	15	71174825	71174843	+	Frame_Shift_Del	DEL	TATAAGACAAATCACTCTG	TATAAGACAAATCACTCTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:71174825_71174843delTATAAGACAAATCACTCTG	ENST00000249861.4	-	3	1236_1254	c.724_742delCAGAGTGATTTGTCTTATA	c.(724-744)cagagtgatttgtcttatatgfs	p.QSDLSYM242fs	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	242							DNA binding|metal ion binding	p.Y247F(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGTACAGCCATATAAGACAAATCACTCTGTTCACTCTTG	0.356													7	190	---	---	---	---					
KRT17P1	147228	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:16748911_16748913delGCT	ENST00000580363.1	-	0	282_284																				lung(4)	4						CGCCCTCAAAGCTGCTGCTGCCA	0.650													2	4	---	---	---	---					
ATAD5	79915	broad.mit.edu	37	17	29220513	29220513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:29220513delG	ENST00000321990.4	+	21	5020	c.4642delG	c.(4642-4644)gctfs	p.A1548fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1548					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAATTGTCTTGCTAGGAAACA	0.363													32	91	---	---	---	---					
TOP2A	7153	broad.mit.edu	37	17	38564250	38564251	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38564250_38564251insT	ENST00000423485.1	-	12	1626_1627	c.1468_1469insA	c.(1468-1470)atafs	p.I490fs		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	490					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACATTGAGTATTTTTCCTCTA	0.371													54	216	---	---	---	---					
MBD1	4152	broad.mit.edu	37	18	47800609	47800626	+	In_Frame_Del	DEL	TGCCCCCGAATTTGGGCT	TGCCCCCGAATTTGGGCT	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:47800609_47800626delTGCCCCCGAATTTGGGCT	ENST00000591416.1	-	11	1507_1524	c.1076_1093delAGCCCAAATTCGGGGGCA	c.(1075-1095)aagcccaaattcgggggcagc>agc	p.KPKFGG359del	MBD1_ENST00000591535.1_In_Frame_Del_p.KPKFGG336del|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000424334.2_In_Frame_Del_p.KPKFGG410del|MBD1_ENST00000436910.1_In_Frame_Del_p.KPKFGG336del|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000590208.1_In_Frame_Del_p.KPKFGG359del|MBD1_ENST00000588937.1_In_Frame_Del_p.KPKFGG336del|MBD1_ENST00000585672.1_In_Frame_Del_p.KPKFGG309del|MBD1_ENST00000339998.6_In_Frame_Del_p.KPKFGG359del|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000457839.2_In_Frame_Del_p.KPKFGG384del|MBD1_ENST00000382948.5_In_Frame_Del_p.KPKFGG359del|MBD1_ENST00000269468.5_In_Frame_Del_p.KPKFGG359del|MBD1_ENST00000353909.3_In_Frame_Del_p.KPKFGG310del|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000585595.1_In_Frame_Del_p.KPKFGG384del|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000269471.5_In_Frame_Del_p.KPKFGG336del			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	359					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.G363R(2)|p.G364C(2)|p.G389C(1)|p.G341C(1)|p.G388R(1)|p.G340R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TTCTGGTTGCTGCCCCCGAATTTGGGCTTGTCGCAGCA	0.651													24	137	---	---	---	---					
KIF3B	9371	broad.mit.edu	37	20	30898454	30898483	+	In_Frame_Del	DEL	TATCGGGACTCAAAGCTTACCAGGCTCCTC	TATCGGGACTCAAAGCTTACCAGGCTCCTC	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:30898454_30898483delTATCGGGACTCAAAGCTTACCAGGCTCCTC	ENST00000375712.3	+	2	1041_1070	c.874_903delTATCGGGACTCAAAGCTTACCAGGCTCCTC	c.(874-903)tatcgggactcaaagcttaccaggctcctcdel	p.YRDSKLTRLL292del	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	292	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCACATTCCATATCGGGACTCAAAGCTTACCAGGCTCCTCCAAGATTCCC	0.509													8	62	---	---	---	---					
ITCH	83737	broad.mit.edu	37	20	33057885	33057897	+	Frame_Shift_Del	DEL	ACTTCAAAGCAAA	ACTTCAAAGCAAA	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:33057885_33057897delACTTCAAAGCAAA	ENST00000374864.4	+	15	1670_1682	c.1457_1469delACTTCAAAGCAAA	c.(1456-1470)gacttcaaagcaaagfs	p.DFKAK486fs	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Frame_Shift_Del_p.DFKAK376fs|ITCH_ENST00000262650.6_Frame_Shift_Del_p.DFKAK527fs	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	527	WW 4.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TATGTTCGGGACTTCAAAGCAAAGGTTCAGTAT	0.399													49	308	---	---	---	---					
C20orf195	79025	broad.mit.edu	37	20	62187700	62187708	+	In_Frame_Del	DEL	GTTCGTCAC	GTTCGTCAC	-	rs150942473	by1000genomes	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:62187700_62187708delGTTCGTCAC	ENST00000370098.3	+	2	776_784	c.684_692delGTTCGTCAC	c.(682-693)tggttcgtcacc>tgc	p.228_231WFVT>C	C20orf195_ENST00000370097.1_In_Frame_Del_p.228_231WFVT>C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	228								p.V230V(1)		large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGCTGCGCTGGTTCGTCACCATCCAGCCA	0.641													53	200	---	---	---	---					
AMMECR1	9949	broad.mit.edu	37	X	109459809	109459823	+	In_Frame_Del	DEL	CCGTGGCAGCTCATC	CCGTGGCAGCTCATC	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:109459809_109459823delCCGTGGCAGCTCATC	ENST00000262844.5	-	3	789_803	c.622_636delGATGAGCTGCCACGG	c.(622-636)gatgagctgccacggdel	p.DELPR208del	AMMECR1_ENST00000372059.2_In_Frame_Del_p.DELPR171del|AMMECR1_ENST00000372057.1_In_Frame_Del_p.DELPR85del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	208	AMMECR1.							p.R212G(1)		large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						AGCAGAAAAGCCGTGGCAGCTCATCCCTTGTCATT	0.377													23	61	---	---	---	---					
