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
SEC24B	10427	broad.mit.edu	37	4	110447419	110447419	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:110447419C>T	ENST00000265175.5	+	17	2884	c.2829C>T	c.(2827-2829)gtC>gtT	p.V943V	SEC24B_ENST00000504968.2_Silent_p.V973V|SEC24B_ENST00000399100.2_Silent_p.V908V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	943					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ACTTCTTTGTCCGTTCTACTG	0.353000													26	44					0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159606666	159606666	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:159606666G>A	ENST00000337808.6	+	6	1829	c.1252G>A	c.(1252-1254)Gac>Aac	p.D418N	IQCJ-SCHIP1_ENST00000412423.2_Missense_Mutation_p.D405N|IQCJ-SCHIP1_ENST00000460298.1_Missense_Mutation_p.D378N|SCHIP1_ENST00000445224.2_Missense_Mutation_p.D175N|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.D467N|IQCJ-SCHIP1_ENST00000485419.1_Missense_Mutation_p.D494N|IQCJ-SCHIP1_ENST00000527095.1_Missense_Mutation_p.D186N|SCHIP1_ENST00000482804.1_Missense_Mutation_p.D191N	NM_001197107.1|NM_014575.3	NP_001184036.1|NP_055390.1	Q9P0W5	SCHI1_HUMAN		418						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAAACCCACCGACCTGAGAGA	0.403000													35	26					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825484	196825484	+	Silent	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:196825484T>C	ENST00000312428.6	-	18	2491	c.2391A>G	c.(2389-2391)gaA>gaG	p.E797E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	797	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAATATCTGCTTCTACTTGGT	0.373000													44	84					0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108875272	108875272	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:108875272G>A	ENST00000376700.1	+	5	609	c.609G>A	c.(607-609)gaG>gaA	p.E203E	SULT1C3_ENST00000329106.2_Silent_p.E203E			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	203						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TCTTCTACGAGGATATTAAAA	0.453000													12	12					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67079133	67079133	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:67079133G>A	ENST00000284425.2	-	36	4671	c.4497C>T	c.(4495-4497)caC>caT	p.H1499H	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1499	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGTTTTTCAGGTGTTGGATGG	0.358000													64	102					0	0	1	0	0
TMEM66	51669	broad.mit.edu	37	8	29927323	29927323	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:29927323T>A	ENST00000256255.6	-	3	792	c.535A>T	c.(535-537)Att>Ttt	p.I179F	TMEM66_ENST00000545648.1_Missense_Mutation_p.I7F|TMEM66_ENST00000536273.1_Missense_Mutation_p.I7F	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	179						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AGTACCACAATGGTAATCAAT	0.468000													15	33					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871981	8871981	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:8871981G>A	ENST00000256707.3	-	30	4366	c.4185C>T	c.(4183-4185)tcC>tcT	p.S1395S	KIDINS220_ENST00000427284.1_Silent_p.S1376S|KIDINS220_ENST00000418530.1_Silent_p.S1296S|KIDINS220_ENST00000473731.1_Silent_p.S1376S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1395					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCTAACTGGGACATCTGAG	0.453000													53	61					0	0	1	0	0
TNK2	10188	broad.mit.edu	37	3	195605956	195605956	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:195605956G>A	ENST00000333602.6	-	7	1595	c.978C>T	c.(976-978)taC>taT	p.Y326Y	TNK2_ENST00000381916.2_Silent_p.Y389Y|TNK2_ENST00000392400.1_Silent_p.Y326Y|TNK2_ENST00000428187.1_Silent_p.Y358Y|TNK2_ENST00000316664.3_Silent_p.Y326Y	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	326	Protein kinase.			TRTFSHASDTWMFGVTLWEMFTYGQEPWIGLNGSQILHKID KEGERLPR -> PPWRDISASSSTQFPHAVPCFPTSLLAKL LLRHSVPASSREIKLVSILC (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GCTCCTGGCCGTAGGTGAACA	0.637000													4	96					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28250559	28250559	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:28250559C>T	ENST00000305242.5	-	10	1416	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	ARMC4_ENST00000239715.3_Missense_Mutation_p.E299K|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.E134K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	442							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GCACTTGCTTCCTGACGATGG	0.393000													13	32					0	0	1	0	0
LCN8	138307	broad.mit.edu	37	9	139652368	139652368	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:139652368G>A	ENST00000371688.3	-	1	310	c.15C>T	c.(13-15)gaC>gaT	p.D5D		NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	0					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CCTTCTGCCGGTCCAGCTCCT	0.692000													13	15					0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73448969	73448969	+	Missense_Mutation	SNP	C	C	T	rs140784196	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:73448969C>T	ENST00000389501.4	+	6	598	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	185							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGACAAGGACCGTTGGATCAG	0.448000													33	28					0	0	1	0	0
TMEM186	25880	broad.mit.edu	37	16	8889845	8889845	+	Silent	SNP	G	G	A	rs143358812		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:8889845G>A	ENST00000333050.6	-	2	639	c.606C>T	c.(604-606)ttC>ttT	p.F202F	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	202						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ACACCTGTGTGAAACGCTCTC	0.557000													36	72					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42090748	42090748	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:42090748T>C	ENST00000407170.2	+	5	1178	c.365T>C	c.(364-366)cTt>cCt	p.L122P	CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_Missense_Mutation_p.L249P|CEACAM21_ENST00000401445.2_Missense_Mutation_p.L250P			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	250						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GTTGGGAGTCTTCTGGTGGCT	0.552000													12	2					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37770740	37770740	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:37770740C>T	ENST00000402918.1	-	3	1620	c.835G>A	c.(835-837)Gag>Aag	p.E279K	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.E279K	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	279						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GAAAGGATCTCGTCGGGGTTG	0.692000													27	26					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77021078	77021078	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:77021078C>T	ENST00000538941.2	-	17	2224	c.1284_splice	c.e17-1	p.E429_splice	SCAPER_ENST00000563290.1_Splice_Site_p.E675_splice|SCAPER_ENST00000324767.7_Splice_Site_p.E675_splice	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	674	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CTCTTGCGTTCCTAATGTTAG	0.368000													8	21					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29231854	29231854	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:29231854C>T	ENST00000441381.1	+	0	309																											TATCATTGATCATTTTTGCTA	0.338000													16	18					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	105					0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356554	90356554	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:90356554C>T	ENST00000371939.3	+	8	898	c.584C>T	c.(583-585)tCa>tTa	p.S195L		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	195					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		CAGGCTTTTTCAGGCAACAAA	0.303000													29	16					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698442	96698442	+	Translation_Start_Site	SNP	G	G	A	rs150891702		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:96698442G>A	ENST00000260682.6	+	1	15	c.3G>A	c.(1-3)atG>atA	p.M1I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	1					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	p.M1I(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AGGCTTCAATGGATTCTCTTG	0.473000													81	37					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16348248	16348248	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:16348248G>A	ENST00000408042.1	-	23	3879	c.3722C>T	c.(3721-3723)tCc>tTc	p.S1241F	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCTGCCAGGGAAGGGACATT	0.448000													9	11					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196963330	196963330	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:196963330C>T	ENST00000367414.5	+	4	679	c.623C>T	c.(622-624)tCa>tTa	p.S208L	CFHR5_ENST00000256785.4_Missense_Mutation_p.S184L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	184	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AGAGTTGGATCAGACTCAGTT	0.343000													52	13					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763976	92763976	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:92763976C>T	ENST00000318238.4	-	5	2525	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	SAMD9L_ENST00000437805.1_Missense_Mutation_p.E437K|SAMD9L_ENST00000411955.1_Missense_Mutation_p.E437K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	437										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTTAATTTCTTTTAAAAAA	0.363000													21	41					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5237176	5237176	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:5237176G>A	ENST00000274181.7	+	14	2256	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	706	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CATGCTCGGAGGATAGCCGTA	0.388000													16	9					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48756111	48756111	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:48756111C>T	ENST00000316623.5	-	41	5505	c.5050G>A	c.(5050-5052)Gga>Aga	p.G1684R		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1684	EGF-like 28; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		caattatttcccccattcact	0.453000													6	9					0	0	1	0	0
ZNF514	84874	broad.mit.edu	37	2	95815791	95815791	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:95815791G>A	ENST00000295208.2	-	5	901	c.439C>T	c.(439-441)Ctt>Ttt	p.L147F	ZNF514_ENST00000411425.1_Missense_Mutation_p.L147F	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	147					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						TCTCTGCTAAGGGTGGTGGCA	0.428000													23	40					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32354690	32354690	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:32354690C>T	ENST00000375200.1	+	9	1621	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L	ZNF341_ENST00000342427.2_Missense_Mutation_p.P412L			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GCGCCACAGCCCCAGGCCTTG	0.637000													77	101					0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72691364	72691364	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:72691364G>A	ENST00000326165.6	-	7	855	c.744C>T	c.(742-744)tcC>tcT	p.S248S	RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_3'UTR|CD300LF_ENST00000301573.9_3'UTR|CD300LF_ENST00000361254.4_3'UTR|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000583937.1_Silent_p.S263S|CD300LF_ENST00000469092.1_3'UTR|CD300LF_ENST00000464910.1_Silent_p.S251S	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	248						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GAGATGCATAGGAAATGTCCT	0.632000													21	31					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86493647	86493647	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:86493647C>T	ENST00000439827.1	+	5	1720	c.1549C>T	c.(1549-1551)Cga>Tga	p.R517*	GRM3_ENST00000394720.2_Nonsense_Mutation_p.R515*|GRM3_ENST00000361669.2_Silent_p.L872L|GRM3_ENST00000546348.1_Silent_p.L464L|GRM3_ENST00000536043.1_Silent_p.L744L			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGGAAGTCCTCGACTCCACCA	0.468000													26	52					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814383	137814383	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:137814383G>A	ENST00000409968.1	+	3	711	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R147Q|THSD7B_ENST00000543459.1_Missense_Mutation_p.R37Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R178Q					thrombospondin, type I, domain containing 7B									p.R147Q(1)|p.R178Q(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTTGTCCCCGGGATTGTGTA	0.498000													56	112					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96374447	96374447	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:96374447C>T	ENST00000261208.3	-	17	1774	c.1406G>A	c.(1405-1407)aGa>aAa	p.R469K	HAL_ENST00000538703.1_Missense_Mutation_p.R469K|HAL_ENST00000541929.1_Missense_Mutation_p.R261K	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	469					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CTCGATTCTTCTCTCACTGAT	0.517000													23	24					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20554584	20554584	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:20554584C>T	ENST00000329697.6	-	11	1450	c.1281_splice	c.e11-1	p.E428_splice	ACSM2B_ENST00000565232.1_Splice_Site_p.E428_splice|ACSM2B_ENST00000567001.1_Splice_Site_p.E428_splice|ACSM2B_ENST00000565322.1_Splice_Site_p.E349_splice	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	428					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TCGGGATTTTCCTGGTGACCA	0.483000													41	68					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28923530	28923530	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:28923530C>T	ENST00000257192.4	+	12	2017	c.1805C>T	c.(1804-1806)cCa>cTa	p.P602L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	602					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTAGAAGGACCACAGCCTGAA	0.488000													14	43					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157689089	157689089	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:157689089G>A	ENST00000502773.1	-	5	1247	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.R90C|PDGFC_ENST00000542208.1_Missense_Mutation_p.R98C|PDGFC_ENST00000422544.2_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	253					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GAGAAGTTACGAGGTGTGCAG	0.428000													37	53					0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95542340	95542340	+	Silent	SNP	A	A	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:95542340A>T	ENST00000295201.4	+	6	1271	c.1134A>T	c.(1132-1134)gcA>gcT	p.A378A	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	378					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCCTCACAGCACTGCGAGAGA	0.597000													3	9					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007278	56007278	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:56007278A>G	ENST00000429591.2	+	4	910	c.872A>G	c.(871-873)cAt>cGt	p.H291R	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCATTCAACATCAGAGAATT	0.418000													18	29					0	0	1	0	0
PALM2	114299	broad.mit.edu	37	9	112705405	112705405	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:112705405G>A	ENST00000448454.2	+	8	942	c.942G>A	c.(940-942)atG>atA	p.M314I	PALM2_ENST00000314527.4_Missense_Mutation_p.M312I|PALM2_ENST00000374531.2_Missense_Mutation_p.M280I|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.M278I					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						CCGTCACCATGATTTTTATGG	0.512000													15	34					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152544146	152544146	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:152544146G>A	ENST00000427231.2	-	26	2719	c.2517C>T	c.(2515-2517)acC>acT	p.T839T	NEB_ENST00000172853.10_Silent_p.T839T|NEB_ENST00000604864.1_Silent_p.T839T|NEB_ENST00000409198.1_Silent_p.T839T|NEB_ENST00000603639.1_Silent_p.T839T|NEB_ENST00000397345.3_Silent_p.T839T	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	839					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCACATCGCTGGTGTTCTTGG	0.532000													11	12					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12343269	12343269	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:12343269G>A	ENST00000358136.3	+	21	5240	c.5110G>A	c.(5110-5112)Gaa>Aaa	p.E1704K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1704K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1704					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCACAAAAAGAATACCTTTC	0.453000													53	14					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934315	94934315	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:94934315C>T	ENST00000396200.3	+	3	379	c.103C>T	c.(103-105)Cct>Tct	p.P35S	PDP1_ENST00000520728.1_Missense_Mutation_p.P10S|PDP1_ENST00000517764.1_Missense_Mutation_p.P10S|PDP1_ENST00000297598.4_Missense_Mutation_p.P10S	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	10					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	p.P10S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ACTGTTTTTTCCTCTCATCCG	0.473000													15	34					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944371	55944371	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:55944371C>T	ENST00000312298.1	+	1	278	c.278C>T	c.(277-279)tCt>tTt	p.S93F		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GCAACAATTTCTTTCTCTGCT	0.448000													28	14					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81199168	81199168	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:81199168G>A	ENST00000394685.3	+	13	1995	c.1576G>A	c.(1576-1578)Ggc>Agc	p.G526S	RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000356249.5_Missense_Mutation_p.G526S|KIAA1199_ENST00000220244.3_Missense_Mutation_p.G526S|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	526										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TACCTTTGGGGGCCACATCAA	0.502000													7	8					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102793137	102793137	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:102793137G>A	ENST00000410023.1	+	12	1946	c.1628G>A	c.(1627-1629)cGg>cAg	p.R543Q	IL1R1_ENST00000409929.1_Missense_Mutation_p.R512Q|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Missense_Mutation_p.R543Q|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_3'UTR			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	543					innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GTCCAGCGACGGTCACCTTCA	0.532000													15	32					0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76968644	76968644	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:76968644G>A	ENST00000262776.3	-	6	1080	c.772C>T	c.(772-774)Cag>Tag	p.Q258*	LGALS3BP_ENST00000591778.1_Silent_p.S173S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	258					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGGGCATCTGGAACGAGGGG	0.627000													17	29					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6128044	6128044	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:6128044A>G	ENST00000261405.5	-	28	4794	c.4540T>C	c.(4540-4542)Ttc>Ctc	p.F1514L		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1514	VWFA 2.		F -> C (in VWD2).		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)	CTCCTGTTGAAGTCGGCTTCA	0.572000													10	21					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318556	30318556	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:30318556C>T	ENST00000375377.1	-	3	622	c.521G>A	c.(520-522)cGa>cAa	p.R174Q		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	174										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						ACCTGACATTCGCAATTCTTC	0.547000													75	123					0	0	1	0	0
SLC51B	123264	broad.mit.edu	37	15	65343882	65343882	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:65343882C>T	ENST00000334287.2	+	3	448	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_178859.3	NP_849190.2			solute carrier family 51, beta subunit																		CATCCTTGCCCTGGCAGCTGT	0.597000													35	61					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106810303	106810303	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:106810303G>A	ENST00000526355.1	-	4	1557	c.1089C>T	c.(1087-1089)tgC>tgT	p.C363C	GUCY1A2_ENST00000282249.2_Silent_p.C363C|GUCY1A2_ENST00000347596.2_Silent_p.C363C	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	363					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CAATCTCGAAGCAGTCCTCAA	0.488000													12	11					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490241	37490241	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:37490241G>A	ENST00000374660.1	+	37	3145	c.3046G>A	c.(3046-3048)Gga>Aga	p.G1016R	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G897R|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G897R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1037						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAAAATAAGTGGAAAATTAGA	0.328000													10	23					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31622896	31622896	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:31622896C>T	ENST00000349552.1	+	5	462	c.462C>T	c.(460-462)ccC>ccT	p.P154P		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	154						extracellular region	lipid binding										GCATGCTCCCCAAGATGGTCA	0.577000													6	23					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853476	122853476	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:122853476C>T	ENST00000264811.5	-	1	1136	c.718G>A	c.(718-720)Gag>Aag	p.E240K	TRPC3_ENST00000379645.3_Missense_Mutation_p.E313K|TRPC3_ENST00000513531.1_Missense_Mutation_p.E240K	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	228					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTGCTGAGCTCTAGGGCCGTA	0.597000													15	23					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17787503	17787503	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:17787503G>A	ENST00000380607.4	+	5	577	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	SH3GL2_ENST00000537391.1_Missense_Mutation_p.E106K	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	153	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGATCTTAGGGAAATTCAAGT	0.403000													15	6					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36884182	36884182	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:36884182G>A	ENST00000301807.6	-	17	5326	c.3429C>T	c.(3427-3429)ttC>ttT	p.F1143F	TRANK1_ENST00000429976.2_Silent_p.F1693F|TRANK1_ENST00000428977.2_Silent_p.F1143F|TRANK1_ENST00000463984.1_5'UTR	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1693					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGGTCTTAACGAACATGCTAT	0.463000													6	12					0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48547523	48547523	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:48547523G>A	ENST00000378654.3	-	5	595	c.539C>T	c.(538-540)cCt>cTt	p.P180L	SUCLA2_ENST00000544100.1_Missense_Mutation_p.P46L|SUCLA2_ENST00000543413.1_Missense_Mutation_p.P122L|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000534875.1_Missense_Mutation_p.P122L	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	180	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TATTAATACAGGACCCTGGCA	0.368000													12	29					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100403900	100403900	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:100403900C>T	ENST00000281806.2	-	2	438	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	MCHR2_ENST00000445970.1_Missense_Mutation_p.G42R|MCHR2_ENST00000369212.1_Missense_Mutation_p.G42R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	42						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CAGATAATCCCAATCATGGAA	0.388000													19	7					0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101168388	101168388	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:101168388C>T	ENST00000259455.2	-	8	1731	c.1272G>A	c.(1270-1272)ggG>ggA	p.G424G		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	424				G -> E (in Ref. 5; AAD30389).	negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ATTTAATGGTCCCCATTCTCT	0.333000													16	19					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18241854	18241854	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:18241854C>T	ENST00000229002.2	-	3	298	c.92G>A	c.(91-93)gGa>gAa	p.G31E	RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Missense_Mutation_p.G30E|RERGL_ENST00000536890.1_Missense_Mutation_p.G30E	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	31	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AGCATATTCTCCAATGAATCG	0.328000													19	37					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140221050	140221050	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:140221050C>T	ENST00000531613.1	+	1	144	c.144C>T	c.(142-144)atC>atT	p.I48I	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.I48I	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCGGATCGCGCAGGACC	0.657000													50	15					0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152991509	152991509	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:152991509C>T	ENST00000218104.3	+	1	1187	c.788C>T	c.(787-789)cCc>cTc	p.P263L	ABCD1_ENST00000370129.4_Missense_Mutation_p.P78L	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	263	ABC transmembrane type-1.		P -> L (in X-ALD; CALD, AMN and AD- types).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTTCTCGCCCAAGTTCGGG	0.701000													3	9					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540585	94540585	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:94540585C>T	ENST00000289495.5	+	1	1376	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S387L|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S387L|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S387L|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S387L|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S387L	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	387						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CCTGAAGATTCAAATAATTTT	0.448000										HNSCC(28;0.073)			15	20					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26918129	26918129	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:26918129A>G	ENST00000539517.2	-	5	877	c.560T>C	c.(559-561)aTa>aCa	p.I187T	NOVA1_ENST00000465357.2_Missense_Mutation_p.I163T|NOVA1_ENST00000267422.7_Missense_Mutation_p.I65T	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	190	KH 2.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TCCCTTCCCTATTATCAGACC	0.403000													35	23					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113565	55113565	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:55113565G>A	ENST00000370862.3	+	2	688	c.352G>A	c.(352-354)Gag>Aag	p.E118K		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	118					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.E118Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGATATCACTGAGACCTGGTT	0.428000													68	96					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267114	107267114	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:107267114G>A	ENST00000334726.2	+	1	660	c.571G>A	c.(571-573)Gac>Aac	p.D191N		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGTTTGTGTGGACACCTCCCT	0.443000													49	59					0	0	1	0	0
ABCF3	55324	broad.mit.edu	37	3	183909041	183909041	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:183909041G>A	ENST00000429586.2	+	16	1752	c.1567G>A	c.(1567-1569)Gtg>Atg	p.V523M	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.V517M	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	523	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCGCATCTGTGTGGTAAGGCT	0.537000													48	82					0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	2082309	2082309	+	Silent	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:2082309A>G	ENST00000400921.2	+	6	902	c.219A>G	c.(217-219)agA>agG	p.R73R	PRKCZ_ENST00000400920.1_Silent_p.R73R|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	256	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		ACCTAATCAGAGTCATCGGGC	0.512000													33	6					0	0	1	0	0
IGHV1-18	28468	broad.mit.edu	37	14	106641848	106641848	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:106641848C>T	ENST00000390605.2	-	0	124																											ACTGCACCAGCTGAACCTGGG	0.582000													37	14					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561395	9561395	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:9561395G>A	ENST00000378429.3	-	5	933	c.387C>T	c.(385-387)tcC>tcT	p.S129S	PAK7_ENST00000353224.5_Silent_p.S129S|PAK7_ENST00000378423.1_Silent_p.S129S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	129	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGGAATACTGGGAGAAGGTGA	0.527000													57	94					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233793	21233793	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:21233793G>A	ENST00000233242.1	-	26	6074	c.5947C>T	c.(5947-5949)Ctc>Ttc	p.L1983F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1983					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGGTCTTGAGTTTCCAGGTG	0.463000													23	35					0	0	1	0	0
HIST1H2AH	85235	broad.mit.edu	37	6	27115285	27115285	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:27115285G>A	ENST00000377459.1	+	1	425	c.378G>A	c.(376-378)aaG>aaA	p.K126K		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	126					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GCCACCATAAGGCCAAATAAG	0.493000													23	23					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540534	169540534	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:169540534C>T	ENST00000340806.6	+	1	825	c.825C>T	c.(823-825)ctC>ctT	p.L275L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	275										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGCCACGCCTCATTTGCAGGT	0.632000													11	23					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234529414	234529414	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:234529414G>A	ENST00000040877.1	-	27	4412	c.4413C>T	c.(4411-4413)atC>atT	p.I1471I	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1471					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TCGGTTTGTCGATGAGCGAGG	0.463000													40	13					0	0	1	0	0
CCDC146	57639	broad.mit.edu	37	7	76916807	76916807	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:76916807C>T	ENST00000285871.4	+	17	2455	c.2328C>T	c.(2326-2328)ttC>ttT	p.F776F	CCDC146_ENST00000431197.1_Silent_p.F490F|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	776										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGAAGGATTTCATCTATGAGC	0.473000													18	20					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912264	101912264	+	Silent	SNP	C	C	T	rs145332528	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:101912264C>T	ENST00000537097.1	+	6	4236	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	GPRASP1_ENST00000444152.1_Silent_p.S1141S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.S1141S|GPRASP1_ENST00000361600.5_Silent_p.S1141S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1141	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGTTCATCCTGTAACTGCA	0.403000													38	10					0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9236693	9236693	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:9236693G>A	ENST00000305444.2	-	1	933	c.934C>T	c.(934-936)Cat>Tat	p.H312Y		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AGACATCAATGGAAAGATGGT	0.443000													31	4					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27450034	27450034	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:27450034C>T	ENST00000375946.4	+	4	1079	c.476C>T	c.(475-477)cCg>cTg	p.P159L	MASTL_ENST00000342386.6_Missense_Mutation_p.P159L|MASTL_ENST00000375940.4_Missense_Mutation_p.P159L	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	159	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACTTGAAACCGGACAATATG	0.333000													13	32					0	0	1	0	0
SP6	80320	broad.mit.edu	37	17	45924715	45924715	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:45924715C>A	ENST00000536300.1	-	2	1412	c.1081G>T	c.(1081-1083)Ggg>Tgg	p.G361W	SP6_ENST00000342234.2_Missense_Mutation_p.G361W	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCTTTGCCCCCGGGGGGCTCC	0.721000													7	3					8.12818e-05	8.161e-05	1	1	0
SLC22A16	85413	broad.mit.edu	37	6	110763731	110763731	+	Missense_Mutation	SNP	C	C	T	rs140000057	by1000genomes	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:110763731C>T	ENST00000368919.3	-	4	965	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.R300Q|SLC22A16_ENST00000330550.4_Missense_Mutation_p.R266Q	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	300					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TTCTTCATATCGTCCCTCTGA	0.478000													14	5					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	100064266	100064266	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:100064266G>A	ENST00000524871.1	+	15	2045	c.1755G>A	c.(1753-1755)gtG>gtA	p.V585V	CNTN5_ENST00000418526.2_Silent_p.V511V|CNTN5_ENST00000527185.1_Silent_p.V585V|CNTN5_ENST00000528682.1_Silent_p.V585V|CNTN5_ENST00000279463.3_Silent_p.V585V|CNTN5_ENST00000524560.1_3'UTR	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	585	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTGACAGTGGGAGAAAGCA	0.363000													6	5					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957411	111957411	+	Missense_Mutation	SNP	C	C	T	rs150120731	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:111957411C>T	ENST00000369732.3	-	11	1767	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	571					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)		CACCTTTTCACGGGCCACAGC	0.527000													3	52					0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96129891	96129891	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:96129891C>T	ENST00000467865.1	+	0	299				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CATGCTATCTCAGTTCACCTT	0.537000			T	TRA@	T-ALL								10	5					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046827	32046827	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:32046827G>A	ENST00000375244.3	-	11	4559	c.4358C>T	c.(4357-4359)tCc>tTc	p.S1453F	TNXB_ENST00000375247.2_Missense_Mutation_p.S1453F			P22105	TENX_HUMAN	tenascin XB	1540					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCACGGCGGACACCGGGCC	0.667000													11	28					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50720628	50720628	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:50720628G>A	ENST00000449103.1	-	19	3242	c.3102C>T	c.(3100-3102)tcC>tcT	p.S1034S	PLXNB2_ENST00000359337.4_Silent_p.S1034S			O15031	PLXB2_HUMAN	plexin B2	1034	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGCTGCAGGGATTCAGCCT	0.687000													13	15					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107340565	107340565	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:107340565C>T	ENST00000265715.3	+	15	1876	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F	SLC26A4_ENST00000541474.1_Missense_Mutation_p.S112F|SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000543100.1_Missense_Mutation_p.S120F|SLC26A4_ENST00000544569.1_Missense_Mutation_p.S138F	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	551	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTTAGATTTTCCAGTCCTATT	0.308000									Pendred syndrome				13	21					0	0	1	0	0
C3orf52	79669	broad.mit.edu	37	3	111821746	111821746	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:111821746C>T	ENST00000264848.5	+	3	389	c.330C>T	c.(328-330)ttC>ttT	p.F110F	C3orf52_ENST00000430855.1_Silent_p.F110F|C3orf52_ENST00000431717.2_Silent_p.F110F	NM_024616.2	NP_078892.2	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	110						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						AAACATTCTTCATCATGCTGA	0.363000													3	4					0	0	1	0	0
COA1	55744	broad.mit.edu	37	7	43680234	43680234	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:43680234G>A	ENST00000395879.1	-	4	1960	c.279C>T	c.(277-279)gtC>gtT	p.V93V	COA1_ENST00000488813.1_5'UTR|COA1_ENST00000395880.3_Silent_p.V93V|COA1_ENST00000310564.6_Silent_p.V93V|COA1_ENST00000223336.6_Silent_p.V93V					cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)																		TGGATCCAGAGACAGGAATCT	0.478000													10	17					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212403	113212403	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:113212403C>T	ENST00000401783.2	-	24	4375	c.4039G>A	c.(4039-4041)Gat>Aat	p.D1347N	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1347N|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1324N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1347	EGF-like 5; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGACACTCATCGACGTTCTTT	0.443000													73	137					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354649	10354649	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:10354649C>T	ENST00000255381.2	-	28	3969	c.3859G>A	c.(3859-3861)Gaa>Aaa	p.E1287K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1287					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGACCTGATTCTGTGTGTAAA	0.413000													23	13					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45127279	45127279	+	Silent	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:45127279A>G	ENST00000296129.1	-	9	2496	c.2362T>C	c.(2362-2364)Ttg>Ctg	p.L788L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	788						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCAGTGGCCAACTTTGCAGTT	0.617000													25	33					0	0	1	0	0
SRRM3	222183	broad.mit.edu	37	7	75877519	75877519	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:75877519G>A	ENST00000388802.4	+	3	456	c.247G>A	c.(247-249)Gag>Aag	p.E83K	SRRM3_ENST00000326382.8_Missense_Mutation_p.E83K					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TTCGGAGGAGGAGATTCGGCA	0.622000													3	11					0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176941974	176941974	+	Silent	SNP	C	C	T	rs143274979	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:176941974C>T	ENST00000507955.1	-	8	1264	c.741G>A	c.(739-741)gaG>gaA	p.E247E		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	247	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTAACCTCTTCTCTTGTTCCA	0.562000													13	6					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50204796	50204796	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:50204796G>A	ENST00000392518.4	+	7	970	c.598G>A	c.(598-600)Gac>Aac	p.D200N	CPT1C_ENST00000323446.5_Missense_Mutation_p.D200N|CPT1C_ENST00000405931.2_Missense_Mutation_p.D200N|CPT1C_ENST00000598293.1_Missense_Mutation_p.D200N|CPT1C_ENST00000354199.5_Missense_Mutation_p.D200N	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	200					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CGAGGACTTCGACTGGACCGC	0.677000													28	2					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158617450	158617450	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:158617450C>T	ENST00000368148.3	-	27	3955	c.3775G>A	c.(3775-3777)Gac>Aac	p.D1259N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1259N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1259					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCTGCAGGTCCTCAGTGGCA	0.532000													50	11					0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11600048	11600048	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:11600048G>A	ENST00000273038.3	-	6	1220	c.855C>T	c.(853-855)tcC>tcT	p.S285S	VGLL4_ENST00000451674.2_Silent_p.S205S|VGLL4_ENST00000424529.2_Silent_p.S201S|VGLL4_ENST00000413604.1_Silent_p.S226S|VGLL4_ENST00000430365.2_Silent_p.S291S|VGLL4_ENST00000404339.1_Silent_p.S290S	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CCACAGAGGGGGAGTGACTGT	0.577000													16	26					0	0	1	0	0
RAB39A	54734	broad.mit.edu	37	11	107832686	107832686	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:107832686C>T	ENST00000320578.2	+	2	308	c.242C>T	c.(241-243)tCt>tTt	p.S81F		NM_017516.1	NP_059986.1	Q14964	RB39A_HUMAN	RAB39A, member RAS oncogene family	81					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding										ATAACCCGATCTTATTACCGC	0.333000													15	8					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841889	8841889	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:8841889C>T	ENST00000324060.2	+	1	574	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGCATTTTCCCTACTGTGC	0.552000													75	31					0	0	1	0	0
DIS3L2	129563	broad.mit.edu	37	2	233198666	233198666	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:233198666C>T	ENST00000325385.7	+	17	2403	c.2127C>T	c.(2125-2127)gtC>gtT	p.V709V	DIS3L2_ENST00000409307.1_Silent_p.V709V|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	709							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TTGCCGACGTCCTGGTGCACC	0.692000													29	45					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169317203	169317203	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:169317203G>A	ENST00000511577.1	-	27	3811	c.3564C>T	c.(3562-3564)ttC>ttT	p.F1188F	DDX60L_ENST00000260184.7_Silent_p.F1188F|DDX60L_ENST00000505890.1_Silent_p.F1189F			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1188							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GATTCTCCAGGAAATTAATAT	0.333000													12	8					0	0	1	0	0
RXFP2	122042	broad.mit.edu	37	13	32367040	32367040	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:32367040G>A	ENST00000298386.2	+	16	1672	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	RXFP2_ENST00000380314.1_Missense_Mutation_p.G510E	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	534						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ATTCGACCTGGAAAACGGCAG	0.433000													11	34					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11696890	11696890	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:11696890C>T	ENST00000262442.3	+	42	8200	c.8132C>T	c.(8131-8133)tCa>tTa	p.S2711L	DNAH9_ENST00000454412.2_Missense_Mutation_p.S2711L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2711					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGCATGAATCAAATCGAGTT	0.373000													33	6					0	0	1	0	0
IFNA6	3443	broad.mit.edu	37	9	21350502	21350502	+	Missense_Mutation	SNP	C	C	T	rs137921767		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:21350502C>T	ENST00000380210.1	-	1	875	c.385G>A	c.(385-387)Gtg>Atg	p.V129M		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	129					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GTCCCTCCCACCCACACCTCC	0.488000													78	37					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73952133	73952133	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:73952133G>A	ENST00000423730.3	-	2	543	c.108C>T	c.(106-108)atC>atT	p.I36I	KHDC1_ENST00000370384.3_Silent_p.I109I|KHDC1_ENST00000257765.5_Silent_p.I36I																							ACTCACCGAAGATGAGCTCCT	0.522000													6	6					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111935494	111935494	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:111935494C>T	ENST00000375741.2	+	17	2047	c.1797C>T	c.(1795-1797)tcC>tcT	p.S599S	ARHGEF7_ENST00000218789.5_Silent_p.S421S|ARHGEF7_ENST00000375737.5_Silent_p.S496S|ARHGEF7_ENST00000317133.5_Silent_p.S578S|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000426073.2_Silent_p.S421S|ARHGEF7_ENST00000375736.4_Silent_p.S421S|ARHGEF7_ENST00000370623.3_Silent_p.S506S|ARHGEF7_ENST00000375739.2_Silent_p.S549S|ARHGEF7_ENST00000478679.1_Silent_p.S343S|ARHGEF7_ENST00000375723.1_Silent_p.S421S	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	599					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGCTCCCCTCCCACCCGGTCA	0.667000													4	3					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23159540	23159540	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:23159540C>T	ENST00000389131.3	-	12	2502	c.2133_splice	c.e12+1	p.Q711_splice		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	711	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCCACCTCACCTGGAACAGGT	0.622000													11	20					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141590897	141590897	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:141590897G>A	ENST00000442267.2	-	8	1402	c.1328C>T	c.(1327-1329)gCt>gTt	p.A443V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	443						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTCCATCAGCATCAGAGCT	0.572000													11	22					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219290484	219290484	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:219290484C>T	ENST00000248444.5	+	4	385	c.297C>T	c.(295-297)gtC>gtT	p.V99V	VIL1_ENST00000440053.1_Silent_p.V99V|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	99	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGCGAGGTCCAGGGCAACG	0.622000													19	41					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34076762	34076762	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:34076762C>T	ENST00000373381.4	-	41	6398	c.6222G>A	c.(6220-6222)atG>atA	p.M2074I	CSMD2_ENST00000373377.1_Missense_Mutation_p.M173I|CSMD2_ENST00000373388.2_Missense_Mutation_p.M173I|CSMD2_ENST00000373380.1_Missense_Mutation_p.M947I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2034	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATCTTCCCATCATGCGGCTGG	0.567000													15	12					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763237	77763237	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:77763237G>A	ENST00000521891.2	+	10	4528	c.4080G>A	c.(4078-4080)tgG>tgA	p.W1360*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.W1315*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.W1334*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.W1315*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1315						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCAGAATGGAATAAAAATA	0.423000										HNSCC(33;0.089)			11	21					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108004000	108004000	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:108004000G>A	ENST00000280758.5	+	5	2205	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	BTBD11_ENST00000357167.4_Silent_p.L96L|BTBD11_ENST00000490090.2_Silent_p.L559L|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Silent_p.L559L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	559						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CTCGAAAGCTGGATGCGGTGG	0.577000											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	47					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930731	184930731	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:184930731C>T	ENST00000308497.4	+	3	2175	c.740C>T	c.(739-741)tCc>tTc	p.S247F	STOX2_ENST00000438269.1_Missense_Mutation_p.S247F	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	247					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GTAAATTTTTCCTATAAGACA	0.408000													7	17					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47563740	47563740	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:47563740C>T	ENST00000359314.5	+	12	1708	c.1252C>T	c.(1252-1254)Cct>Tct	p.P418S		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	418	Pro-rich.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AAAACCAGTTCCTCCACCACC	0.413000													43	73					0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61558990	61558990	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:61558990C>T	ENST00000290866.4	+	7	1033	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	ACE_ENST00000428043.1_Missense_Mutation_p.P337S|ACE_ENST00000538928.1_Missense_Mutation_p.P337S|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	337	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGAGCTCTCCCCCATGCCTCC	0.657000													16	27					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67079132	67079132	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:67079132G>A	ENST00000284425.2	-	36	4672	c.4498C>T	c.(4498-4500)Ctg>Ttg	p.L1500L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1500	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTGTTTTTCAGGTGTTGGATG	0.358000													64	102					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334178	37334178	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:37334178C>T	ENST00000262825.5	+	14	2563	c.2346C>T	c.(2344-2346)tcC>tcT	p.S782S	CSF2RB_ENST00000403662.3_Silent_p.S776S|CSF2RB_ENST00000406230.1_Silent_p.S782S|CSF2RB_ENST00000536485.1_Silent_p.S723S	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	776					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AGGGCCGGTCCCCCAGGTCAC	0.637000													23	38					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884218	228884218	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:228884218A>T	ENST00000392056.3	-	7	1398	c.1352T>A	c.(1351-1353)gTc>gAc	p.V451D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V451D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	451						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGAACAACGACGATTTTGGG	0.502000													19	35					0	0	1	0	0
TRADD	8717	broad.mit.edu	37	16	67188614	67188614	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:67188614C>T	ENST00000345057.4	-	5	1345	c.877G>A	c.(877-879)Gag>Aag	p.E293K	TRADD_ENST00000486556.1_Missense_Mutation_p.E233K	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	293					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTGGTGAGCTCGTTCTCCTCG	0.682000													3	0					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43934621	43934621	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:43934621C>G	ENST00000282406.4	+	11	2013	c.1903C>G	c.(1903-1905)Cgg>Ggg	p.R635G		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	635	Ser-rich.					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)				ATCCAGCTCCCGGACGTCAGA	0.537000													11	58					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91423330	91423330	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:91423330C>T	ENST00000268171.3	+	13	1662	c.1383C>T	c.(1381-1383)atC>atT	p.I461I		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	461					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACAGAGACATCGGGAAACGGC	0.682000													7	11					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396858	154396858	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:154396858C>T	ENST00000435029.4	+	1	3599	c.3439C>T	c.(3439-3441)Cct>Tct	p.P1147S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1147	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGGAGGATCCTACCGAGGT	0.542000													15	11					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677862	3677862	+	Silent	SNP	C	C	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:3677862C>G	ENST00000344754.4	-	9	2249	c.2250G>C	c.(2248-2250)ctG>ctC	p.L750L	SIGLEC1_ENST00000202578.4_Silent_p.L750L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	750	Ig-like C2-type 7.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCTGGGCCCACAGCACCCCAT	0.622000													16	35					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56469097	56469097	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:56469097C>T	ENST00000370754.5	-	39	10229	c.10230G>A	c.(10228-10230)gaG>gaA	p.E3410E	DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Silent_p.E3232E|DST_ENST00000370769.4_Silent_p.E3232E|DST_ENST00000312431.6_Silent_p.E3232E|DST_ENST00000446842.2_Silent_p.E2906E|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	3232					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)			TAAGGAGAAGCTCAGACTTAA	0.358000													8	5					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994959	11994959	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:11994959C>T	ENST00000333796.3	-	1	1627	c.1311G>A	c.(1309-1311)tgG>tgA	p.W437*	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	437					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GGGGGAATTTCCAGTGGTCTA	0.522000													26	77					0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40588755	40588755	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:40588755C>T	ENST00000260402.3	-	15	1816	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	PLCB2_ENST00000456256.2_Missense_Mutation_p.E523K|PLCB2_ENST00000557821.1_Missense_Mutation_p.E519K	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	523	Glu-rich.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		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;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ATCTCTTCTTCATCCAGGTTT	0.587000													9	11					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100348394	100348394	+	RNA	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:100348394G>A	ENST00000542585.1	+	0	1544				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TACTATGCTCGAACTCCTCCT	0.622000													7	9					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673691	125673691	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:125673691G>A	ENST00000373659.3	-	2	749	c.661C>T	c.(661-663)Cat>Tat	p.H221Y		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						GATTCTACATGAAGGATACAA	0.403000													12	15					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33313484	33313484	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:33313484T>C	ENST00000242067.6	+	9	1453	c.932T>C	c.(931-933)aTg>aCg	p.M311T	BBS9_ENST00000425508.2_Missense_Mutation_p.M266T|BBS9_ENST00000354265.4_Missense_Mutation_p.M311T|BBS9_ENST00000396127.2_Missense_Mutation_p.M311T|BBS9_ENST00000355070.2_Missense_Mutation_p.M311T|BBS9_ENST00000350941.3_Missense_Mutation_p.M311T	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	311					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CATAATAACATGCTGCATATT	0.358000									Bardet-Biedl syndrome				8	16					0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1399995	1399995	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:1399995G>T	ENST00000406424.4	-	11	1698	c.838C>A	c.(838-840)Ccc>Acc	p.P280T	INPP5K_ENST00000542125.1_Missense_Mutation_p.P260T|INPP5K_ENST00000421807.2_Missense_Mutation_p.P356T|INPP5K_ENST00000397335.3_Missense_Mutation_p.P264T|INPP5K_ENST00000320345.6_Missense_Mutation_p.P280T	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	356	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GGGCTGCTGGGGAAGTCCGAG	0.582000													12	6					2.27111e-07	2.29262e-07	1	1	0
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458000	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			48	25					2.29192e-23	2.35181e-23	1	1	0
TFCP2L1	29842	broad.mit.edu	37	2	121989456	121989456	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:121989456G>A	ENST00000263707.5	-	13	1384	c.1287C>T	c.(1285-1287)atC>atT	p.I429I		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	429					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					AGACTCGGTGGATGTGCTGGG	0.632000													20	41					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124998088	124998088	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:124998088G>A	ENST00000360647.4	-	6	948	c.463C>T	c.(463-465)Ctt>Ttt	p.L155F	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.L155F|ZNF148_ENST00000485866.1_Missense_Mutation_p.L155F|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.L155F	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	155					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTTATTGTAAGGATCTAGTTC	0.308000													14	28					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962444	69962444	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:69962444C>T	ENST00000305231.7	+	1	252	c.206C>T	c.(205-207)tCa>tTa	p.S69L	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.S69L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	69					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCAACAACTCATCCGCTCTT	0.378000													25	48					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746841	121746841	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:121746841G>A	ENST00000452319.1	+	14	3411	c.3351G>A	c.(3349-3351)gtG>gtA	p.V1117V	GLI2_ENST00000361492.4_Silent_p.V1117V|GLI2_ENST00000314490.11_Silent_p.V789V			P10070	GLI2_HUMAN	GLI family zinc finger 2	1117					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACTCCAACGTGGGCCCCTCCG	0.617000													26	41					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77645799	77645799	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:77645799G>A	ENST00000461745.1	+	19	3652	c.2752G>A	c.(2752-2754)Gat>Aat	p.D918N	ROBO2_ENST00000332191.8_Missense_Mutation_p.D918N|ROBO2_ENST00000487694.3_Missense_Mutation_p.D934N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	918					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAATGCTGGTGATCCCAGCTA	0.448000													36	55					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140187261	140187261	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:140187261G>A	ENST00000530339.1	+	1	489	c.489G>A	c.(487-489)ggG>ggA	p.G163G	PCDHA4_ENST00000356878.4_Silent_p.G163G|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.G163G	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATATCGGGGAGAACGCCC	0.522000													21	11					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61533462	61533462	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:61533462C>T	ENST00000278836.5	+	3	263	c.167C>T	c.(166-168)tCg>tTg	p.S56L	MYRF_ENST00000265460.5_Missense_Mutation_p.S47L	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CCAGCCAGCTCGGCCTCCTAC	0.731000													2	1					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50357541	50357541	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:50357541A>C	ENST00000394688.3	-	12	1559	c.1400T>G	c.(1399-1401)tTa>tGa	p.L467*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.L467*			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	467					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCCTTTTGTTAAAACATCCAG	0.413000													11	7					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76511081	76511081	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:76511081C>T	ENST00000389840.5	-	26	4000	c.3876G>A	c.(3874-3876)tgG>tgA	p.W1292*	DNAH17_ENST00000585328.1_Nonsense_Mutation_p.W1293*					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGGTGGTCTTCCAGTCCTCGA	0.438000													20	32					0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117139164	117139164	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:117139164G>A	ENST00000307564.4	-	3	1084	c.923C>T	c.(922-924)cCt>cTt	p.P308L	AKNA_ENST00000374088.3_Missense_Mutation_p.P308L|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000312033.3_Missense_Mutation_p.P308L|AKNA_ENST00000374075.5_Missense_Mutation_p.P227L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GAATCGGGAAGGGAGTGGCTT	0.607000													7	21					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681084	100681084	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:100681084C>T	ENST00000306151.4	+	3	6451	c.6387C>T	c.(6385-6387)tcC>tcT	p.S2129S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2129	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)					CTGTTGACTCCAACAGTCCTG	0.478000													82	143					0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68118697	68118697	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:68118697G>A	ENST00000380035.2	+	2	589	c.531G>A	c.(529-531)gaG>gaA	p.E177E	SKOR1_ENST00000389002.1_Silent_p.E168E|SKOR1_ENST00000554240.1_Silent_p.E138E|SKOR1_ENST00000341418.5_Silent_p.E363E|SKOR1_ENST00000554054.1_Silent_p.E149E			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	177					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						AGCTGCCCGAGAACTTCGCCT	0.622000													32	42					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785386	111785386	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:111785386C>T	ENST00000261726.6	+	22	3872	c.3718C>T	c.(3718-3720)Cca>Tca	p.P1240S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGACCTTGATCCAAGCGGGGG	0.667000													35	56					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90503026	90503026	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:90503026G>A	ENST00000325643.5	+	4	3690	c.3624G>A	c.(3622-3624)agG>agA	p.R1208R		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		AGGCCCACAGGAGGCCCAGAA	0.642000													5	8					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43372489	43372489	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:43372489C>T	ENST00000244296.2	-	5	1144	c.1007G>A	c.(1006-1008)aGa>aAa	p.R336K	PSG1_ENST00000595356.1_Missense_Mutation_p.R336K|PSG1_ENST00000403380.3_Missense_Mutation_p.R243K|PSG1_ENST00000312439.6_Missense_Mutation_p.R336K|PSG1_ENST00000436291.2_Missense_Mutation_p.R336K|PSG1_ENST00000595124.1_Missense_Mutation_p.R243K	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGGGTAAATTCTGGGGAGGTC	0.483000													53	13					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57583408	57583408	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:57583408C>T	ENST00000399050.4	+	20	3366	c.2830C>T	c.(2830-2832)Ctg>Ttg	p.L944L	CTNND1_ENST00000531014.1_Silent_p.L615L|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000532844.1_Silent_p.L890L|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000528621.1_Intron|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000360682.6_Silent_p.L923L|CTNND1_ENST00000527467.1_Silent_p.L621L|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000530748.1_Intron|CTNND1_ENST00000358694.6_Intron|CTNND1_ENST00000361332.4_Silent_p.L938L|CTNND1_ENST00000428599.2_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000361391.6_Silent_p.L917L|CTNND1_ENST00000399039.4_Intron|CTNND1_ENST00000526938.1_Intron|CTNND1_ENST00000361796.4_Intron|CTNND1_ENST00000532649.1_Intron|CTNND1_ENST00000415361.2_Silent_p.L843L|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000532787.1_Silent_p.L816L|CTNND1_ENST00000529919.1_Intron|CTNND1_ENST00000524630.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000530094.1_Silent_p.L837L|CTNND1_ENST00000534579.1_Intron|CTNND1_ENST00000533667.1_Silent_p.L594L|CTNND1_ENST00000529873.1_Silent_p.L863L|CTNND1_ENST00000529526.1_Intron|CTNND1_ENST00000526357.1_Silent_p.L884L	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	944					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GCAGGAATCTCTGGAGGAAGA	0.493000													6	2					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895004	17895004	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:17895004C>T	ENST00000594202.1	+	25	2465	c.2186C>T	c.(2185-2187)cCc>cTc	p.P729L	FCHO1_ENST00000539407.1_Missense_Mutation_p.P729L|FCHO1_ENST00000597512.1_Missense_Mutation_p.P736L|FCHO1_ENST00000595033.1_Missense_Mutation_p.P679L|FCHO1_ENST00000252771.7_Missense_Mutation_p.P729L|FCHO1_ENST00000600676.1_Missense_Mutation_p.P729L|FCHO1_ENST00000596951.1_Missense_Mutation_p.P729L|FCHO1_ENST00000596536.1_Missense_Mutation_p.P729L|FCHO1_ENST00000389133.4_Missense_Mutation_p.P729L	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	729										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GAGCAGAACCCCACTGCCTCC	0.647000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	6					0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45706903	45706903	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:45706903C>T	ENST00000291582.5	+	3	477	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	117					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AAGCCCCCGGCCGTCCCCAAG	0.672000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				22	50					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344587	69344587	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:69344587C>T	ENST00000305363.4	+	9	1052	c.988C>T	c.(988-990)Cga>Tga	p.R330*		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	330	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AAATCATCTTCGACAAGCACA	0.343000													36	11					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25259905	25259905	+	Missense_Mutation	SNP	G	G	A	rs141572576		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:25259905G>A	ENST00000354454.3	+	20	2006	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	LRMP_ENST00000547044.1_Missense_Mutation_p.E393K|LRMP_ENST00000548766.1_Missense_Mutation_p.E393K	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	449					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GCCATCTGGAGAAGAAACAGT	0.303000													6	18					0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15323422	15323422	+	RNA	SNP	T	T	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:15323422T>A	ENST00000344693.5	-	0	888					NR_027270.1																						TTCTTTGTACTGCTCCTTTCA	0.323000													18	16					0	0	1	0	0
OR10A3	26496	broad.mit.edu	37	11	7960609	7960609	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:7960609G>A	ENST00000360759.3	-	1	532	c.459C>T	c.(457-459)atC>atT	p.I153I		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGCCACCATGATCCCTGAGA	0.428000													23	32					0	0	1	0	0
ANKRD7	56311	broad.mit.edu	37	7	117874919	117874919	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:117874919G>A	ENST00000357099.4	+	4	692	c.519G>A	c.(517-519)gcG>gcA	p.A173A	ANKRD7_ENST00000265224.4_Silent_p.A153A|ANKRD7_ENST00000417525.1_Silent_p.A100A|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Silent_p.A100A			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	153					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ATCTTGAAGCGAAAAATAAGG	0.299000													9	13					0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118014667	118014667	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:118014667G>A	ENST00000324727.4	-	3	490	c.344C>T	c.(343-345)tCc>tTc	p.S115F	SCN4B_ENST00000529878.1_Intron	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	115	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		CAGCACAATGGAAATGTTGTT	0.507000													26	11					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575908	52575908	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:52575908T>A	ENST00000395489.2	-	11	1374	c.978A>T	c.(976-978)caA>caT	p.Q326H	A1CF_ENST00000395495.1_Missense_Mutation_p.Q278H|A1CF_ENST00000373997.3_Missense_Mutation_p.Q333H|A1CF_ENST00000373995.3_Missense_Mutation_p.Q341H|A1CF_ENST00000282641.2_Missense_Mutation_p.Q333H|A1CF_ENST00000493415.1_5'UTR|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373993.1_Missense_Mutation_p.Q333H|A1CF_ENST00000374001.1_Missense_Mutation_p.Q333H	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	333					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GATCATAAACTTGGCCCAAAG	0.512000													17	20					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169321994	169321994	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:169321994C>T	ENST00000511577.1	-	26	3721	c.3474G>A	c.(3472-3474)agG>agA	p.R1158R	DDX60L_ENST00000260184.7_Silent_p.R1158R|DDX60L_ENST00000505890.1_Silent_p.R1158R			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1158							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCTGTGTCTTCCTCACTTTTT	0.363000													11	7					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103495026	103495026	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:103495026G>A	ENST00000372588.4	-	4	1187	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	368	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGGGCGGCCCGGGTGGCAGAG	0.701000													13	6					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87679236	87679236	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:87679236C>T	ENST00000320005.5	-	6	816	c.769G>A	c.(769-771)Gac>Aac	p.D257N		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	257					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CATATGATGTCCGCAATAAGC	0.438000													12	28					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119028986	119028986	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:119028986C>T	ENST00000307417.3	+	10	1475	c.1111C>T	c.(1111-1113)Ctc>Ttc	p.L371F	ABCG4_ENST00000531739.1_Missense_Mutation_p.L371F|ABCG4_ENST00000449422.2_Missense_Mutation_p.L371F	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	371					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CACCAGCACCCTCACACAGTT	0.572000													132	61					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141731546	141731546	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:141731546G>A	ENST00000475668.2	+	13	1591	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	MGAM_ENST00000549489.2_Missense_Mutation_p.E513K			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	513	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.E513*(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGACAAAGGAATTTGAGCT	0.368000													17	32					0	0	1	0	0
MIR329-1	574408	broad.mit.edu	37	14	101493169	101493169	+	RNA	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:101493169G>A	ENST00000385028.1	+	0	48					NR_029967.1																						TAATGAGGACGAAACACACCT	0.468000													36	21					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599885	29599885	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:29599885G>A	ENST00000431530.3	+	1	1138	c.1080G>A	c.(1078-1080)ggG>ggA	p.G360G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	350						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ATCCATGTGGGGAAGCACACC	0.572000													18	17					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138606540	138606540	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:138606540C>T	ENST00000298480.5	+	2	302	c.228C>T	c.(226-228)ggC>ggT	p.G76G	KCNT1_ENST00000371757.2_Silent_p.G76G|KCNT1_ENST00000487664.1_Intron|KCNT1_ENST00000486577.2_Silent_p.G23G			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	76						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TGCTGCTGGGCGACCCGTCCT	0.746000													4	9					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46959986	46959986	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:46959986G>A	ENST00000374325.3	-	8	1308	c.1156C>T	c.(1156-1158)Cat>Tat	p.H386Y	SYT15_ENST00000449358.2_5'UTR|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Missense_Mutation_p.H386Y	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	0						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GATGTCAGATGAAACAGAAAC	0.443000													4	26					0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703813	4703813	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:4703813G>A	ENST00000396950.3	-	2	368	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGAAGACCACGATGCAGTTTC	0.507000													15	36					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79362440	79362440	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:79362440A>G	ENST00000264895.6	+	41	6094	c.5654A>G	c.(5653-5655)aAc>aGc	p.N1885S	FRAS1_ENST00000325942.6_Missense_Mutation_p.N1885S	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1884					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						TGCATTGAGAACACAGGAACA	0.453000													8	8					0	0	1	0	0
SPATS2L	26010	broad.mit.edu	37	2	201305434	201305434	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:201305434C>T	ENST00000409988.3	+	8	1238	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	SPATS2L_ENST00000358677.4_Missense_Mutation_p.R239C|SPATS2L_ENST00000409718.1_Missense_Mutation_p.R239C|SPATS2L_ENST00000409385.1_Missense_Mutation_p.R179C|SPATS2L_ENST00000409140.3_Missense_Mutation_p.R239C|SPATS2L_ENST00000409151.1_Missense_Mutation_p.R247C|SPATS2L_ENST00000451764.2_Missense_Mutation_p.R239C|SPATS2L_ENST00000360760.5_Missense_Mutation_p.R170C|SPATS2L_ENST00000409755.3_Missense_Mutation_p.R269C	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	239						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AACTAGATATCGCGTCATGAT	0.378000													16	25					0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131455201	131455201	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:131455201C>T	ENST00000322030.8	+	5	790	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	SET_ENST00000477806.1_3'UTR|SET_ENST00000409104.3_Silent_p.L136L|SET_ENST00000372692.4_Silent_p.L158L|SET_ENST00000372688.4_Silent_p.L134L	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	158					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGAATTTCATCTGAATGAGAG	0.313000			T	NUP214	AML								8	13					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137206693	137206693	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:137206693G>A	ENST00000453654.1	-	21	1806	c.1267C>T	c.(1267-1269)Cgt>Tgt	p.R423C	DGKI_ENST00000288490.5_Missense_Mutation_p.R723C|DGKI_ENST00000446122.1_Missense_Mutation_p.R723C|DGKI_ENST00000424189.2_Missense_Mutation_p.R744C			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	723	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATCCTCAGACGATCTGGGACA	0.463000													6	9					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131133	45131133	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:45131133C>T	ENST00000457685.2	-	6	2054	c.731G>A	c.(730-732)cGa>cAa	p.R244Q	ZNF334_ENST00000593880.1_Missense_Mutation_p.R305Q|ZNF334_ENST00000347606.4_Missense_Mutation_p.R282Q			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TCTTCGGTGTCGAGTGAGGCT	0.408000													32	55					0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103322324	103322324	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:103322324G>A	ENST00000233969.2	+	11	2139	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	666						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAACCTCCCGATATTTATCC	0.303000													8	20					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71155354	71155354	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:71155354C>A	ENST00000283228.2	-	4	976	c.524G>T	c.(523-525)gGa>gTa	p.G175V	PTPRR_ENST00000342084.4_Missense_Mutation_p.G63V	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	175					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATCAGAAATTCCTGTTTTTCG	0.343000													31	59					8.16721e-17	8.34622e-17	1	1	0
SV2B	9899	broad.mit.edu	37	15	91801768	91801768	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:91801768C>T	ENST00000394232.1	+	5	1372	c.902C>T	c.(901-903)cCa>cTa	p.P301L	SV2B_ENST00000330276.4_Missense_Mutation_p.P301L|SV2B_ENST00000545111.2_Missense_Mutation_p.P150L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	301					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CCAGAGAGCCCAAGGTTTCTG	0.552000													16	33					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116812406	116812406	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:116812406G>A	ENST00000288466.7	+	14	2644	c.2545G>A	c.(2545-2547)Gat>Aat	p.D849N	ZNF618_ENST00000374126.5_Missense_Mutation_p.D942N|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	942					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAGTCCAGAAGATATGAATAA	0.448000													24	51					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79428724	79428724	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:79428724G>A	ENST00000264895.6	+	62	9906	c.9466G>A	c.(9466-9468)Gag>Aag	p.E3156K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3151					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						TCTAGACCAGGAGGCAGCAGG	0.502000													14	23					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146071	42146071	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:42146071G>A	ENST00000394237.1	+	4	1231	c.255G>A	c.(253-255)aaG>aaA	p.K85K	GUCA1A_ENST00000053469.4_Silent_p.K85K|GUCA1A_ENST00000372958.1_Silent_p.K85K|GUCA1A_ENST00000541991.1_Silent_p.K85K			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	85	EF-hand 2.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGGTCCTCAAGGGGAAGGTGG	0.612000													57	74					0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839576	15839576	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:15839576C>T	ENST00000305899.3	+	1	743	c.723C>T	c.(721-723)acC>acT	p.T241T		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCTTCTCCACCTGTGCCTCTC	0.537000													27	19					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108004001	108004001	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:108004001G>A	ENST00000280758.5	+	5	2206	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	BTBD11_ENST00000357167.4_Missense_Mutation_p.D97N|BTBD11_ENST00000490090.2_Missense_Mutation_p.D560N|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.D560N	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	560						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TCGAAAGCTGGATGCGGTGGC	0.577000											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	47					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49597954	49597954	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:49597954C>T	ENST00000527477.1	+	0	558																											GGACGAAGTTCATGAGAGGAA	0.517000													7	8					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42735229	42735229	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:42735229G>A	ENST00000441594.1	-	10	1389	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	HHATL_ENST00000310417.5_Silent_p.T376T	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	376					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCCACAGTGTGGTGATGGCAA	0.517000													14	12					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102751345	102751345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:102751345C>T	ENST00000504592.1	+	6	824	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	BANK1_ENST00000322953.4_Nonsense_Mutation_p.Q151*|BANK1_ENST00000444316.2_Nonsense_Mutation_p.Q121*|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000428908.1_Intron			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	151	Interaction with ITPR2.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CTCTGTAATCCAGAGTATCAT	0.318000													26	29					0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151112551	151112551	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:151112551G>A	ENST00000341697.3	-	4	1825	c.134C>T	c.(133-135)tCc>tTc	p.S45F				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	45	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CCGAAACCAGGATAATGGGGA	0.542000													6	12					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921109	1921109	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:1921109G>A	ENST00000399161.2	-	11	2233	c.1486C>T	c.(1486-1488)Ccc>Tcc	p.P496S	MYT1L_ENST00000428368.2_Missense_Mutation_p.P494S	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	496					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTTCTTGAGGGATCTAAAAGC	0.453000													33	53					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961589	73961589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:73961589G>A	ENST00000373468.1	-	3	3454	c.2803C>T	c.(2803-2805)Cca>Tca	p.P935S	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P935S			Q5QGS0	K2022_HUMAN	KIAA2022	935					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGACAGATTGGATTGTATGTT	0.453000													25	6					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103219	57103219	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:57103219A>T	ENST00000439986.4	-	11	1179	c.1142T>A	c.(1141-1143)aTg>aAg	p.M381K	CCBE1_ENST00000398179.2_Missense_Mutation_p.M110K	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	381					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GCCCAGGTCCATGGCTTCTGG	0.542000													63	94					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120475859	120475859	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:120475859G>A	ENST00000355622.6	+	3	1554	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E445K	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	485					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						TTCTTTCCAGGAAAACTTCCT	0.448000													22	32					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366896	10366896	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:10366896G>A	ENST00000255381.2	-	8	823	c.713C>T	c.(712-714)aCc>aTc	p.T238I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	238	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATTCCTCACGGTCTTGGCATT	0.418000													25	11					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50958897	50958897	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:50958897C>T	ENST00000374103.4	-	7	969	c.884G>A	c.(883-885)gGg>gAg	p.G295E	OGDHL_ENST00000419399.1_Missense_Mutation_p.G238E|OGDHL_ENST00000432695.1_Missense_Mutation_p.G86E	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	295					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTGTGGCATCCCCAAGATGAC	0.572000													7	8					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17053474	17053474	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:17053474G>A	ENST00000395811.5	+	12	1381	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	MPRIP_ENST00000444976.1_Missense_Mutation_p.G393E|MPRIP_ENST00000395804.3_Missense_Mutation_p.G431E|MPRIP_ENST00000341712.4_Missense_Mutation_p.G431E	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	431	PH 2.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GACTTGGATGGAGAAATTGAC	0.458000													55	32					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76754633	76754633	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:76754633C>T	ENST00000536229.3	+	1	2952	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L	SALL3_ENST00000575389.2_Missense_Mutation_p.S881L|SALL3_ENST00000537592.2_Missense_Mutation_p.S881L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GACTCCTCGTCGGCCGTGGGC	0.692000													19	26					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62593688	62593688	+	Silent	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:62593688A>G	ENST00000371158.2	+	40	5202	c.5088A>G	c.(5086-5088)ggA>ggG	p.G1696G	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1696	PDZ 10.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAGGAAGAGGAAGTCCCTTAG	0.428000													30	9					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88419664	88419664	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:88419664C>T	ENST00000372071.2	+	7	1073	c.846C>T	c.(844-846)acC>acT	p.T282T	OPN4_ENST00000241891.5_Silent_p.T271T	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	271					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTCTCCAGACCTTCGGGGCCT	0.637000													15	8					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55167895	55167895	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:55167895G>A	ENST00000414150.2	+	20	3696	c.3418G>A	c.(3418-3420)Gag>Aag	p.E1140K	MROH7_ENST00000421030.2_Missense_Mutation_p.E1140K|MROH7_ENST00000409996.1_Missense_Mutation_p.E708K|MROH7_ENST00000454855.2_Missense_Mutation_p.E658K					maestro heat-like repeat family member 7																		GACCATGCAGGAGGGCAACTC	0.617000													7	1					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155232633	155232633	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:155232633C>T	ENST00000460012.1	-	12	1778	c.1421G>A	c.(1420-1422)aGg>aAg	p.R474K	PLCH1_ENST00000414191.1_Missense_Mutation_p.R474K|PLCH1_ENST00000494598.1_Missense_Mutation_p.R492K|PLCH1_ENST00000447496.2_Missense_Mutation_p.R492K|PLCH1_ENST00000334686.6_Missense_Mutation_p.R474K|PLCH1_ENST00000340059.7_Missense_Mutation_p.R492K			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	492					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGTTTTTTCCTTATGAAAGA	0.393000													14	10					0	0	1	0	0
BTNL8	79908	broad.mit.edu	37	5	180335889	180335889	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:180335889C>T	ENST00000231229.4	+	2	587	c.353C>T	c.(352-354)tCc>tTc	p.S118F	BTNL8_ENST00000508408.1_Missense_Mutation_p.S118F|BTNL8_ENST00000340184.4_Missense_Mutation_p.S118F|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	118	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGATTAGTTCCCAGTCTTAC	0.463000													61	25					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052973	44052973	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:44052973C>T	ENST00000306006.6	-	2	1207	c.555G>A	c.(553-555)ggG>ggA	p.G185G	ZNF239_ENST00000426961.1_Silent_p.G185G|ZNF239_ENST00000374446.2_Silent_p.G185G|ZNF239_ENST00000535642.1_Silent_p.G185G	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TAAGTATTTTCCCACAGTTAT	0.423000													24	52					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170069	20170069	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:20170069C>T	ENST00000338912.5	-	0	202																		p.G68D(1)|p.G68A(1)									GCACACCAATCCCATCCACTC	0.557000													23	53					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101891	81101891	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:81101891G>A	ENST00000228641.3	+	1	615	c.393G>A	c.(391-393)gtG>gtA	p.V131V		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	131	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TGCCCAAGGTGGAGATTCTGC	0.612000													20	36					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182358123	182358123	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:182358123G>A	ENST00000397033.2	+	11	1655	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	409					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCGTGCAGATGGGATCTCGTC	0.373000													13	30					0	0	1	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406777	144406777	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:144406777G>A	ENST00000523676.1	-	7	805	c.400C>T	c.(400-402)Ccg>Tcg	p.P134S	TOP1MT_ENST00000521193.1_Missense_Mutation_p.P134S|TOP1MT_ENST00000519148.1_Missense_Mutation_p.P134S|TOP1MT_ENST00000329245.4_Missense_Mutation_p.P232S			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	232					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TGCCCCGCCGGCGGCTCGGGG	0.562000													36	66					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465622	10465622	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:10465622C>T	ENST00000382483.3	-	4	6209	c.5986G>A	c.(5986-5988)Gag>Aag	p.E1996K		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1996					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTTCTGACTCTGGCTGGGCC	0.607000													111	169					0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138714356	138714356	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:138714356C>T	ENST00000353963.3	-	10	1141	c.1103G>A	c.(1102-1104)gGc>gAc	p.G368D	SLC23A1_ENST00000348729.3_Missense_Mutation_p.G364D	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	364					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GCAGCAAATGCCTTCGGTGAA	0.592000													6	2					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25453247	25453247	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:25453247C>T	ENST00000424208.1	+	0	2384				SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGATGAGAACCTTATATTTTC	0.532000													74	135					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318163	176318163	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:176318163C>A	ENST00000292432.5	-	4	380	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	97	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGTGGCCCCCAGCTCCAGC	0.587000													11	12					1.15088e-07	1.16335e-07	1	1	0
KIDINS220	57498	broad.mit.edu	37	2	8871120	8871120	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:8871120G>A	ENST00000256707.3	-	30	5227	c.5046C>T	c.(5044-5046)acC>acT	p.T1682T	KIDINS220_ENST00000427284.1_Silent_p.T1663T|KIDINS220_ENST00000418530.1_Silent_p.T1583T|KIDINS220_ENST00000473731.1_Silent_p.T1663T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1682					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCAGAGTCACGGTGCTGGGAG	0.488000													22	21					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42729787	42729787	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:42729787G>A	ENST00000287777.4	+	2	1406	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N		NM_152393.2	NP_689606.2			kelch-like family member 40																		CATGTGCTACGACAGGCTGTG	0.637000													15	20					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996209	19996209	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:19996209C>T	ENST00000391403.2	-	1	1669	c.1566G>A	c.(1564-1566)cgG>cgA	p.R522R		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	522						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCCTCCTCCCCGTGGAAGCA	0.512000													43	50					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32203093	32203093	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:32203093G>A	ENST00000373658.3	-	20	3257	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F	BAI2_ENST00000257070.4_Silent_p.F972F|BAI2_ENST00000440175.2_Silent_p.F614F|BAI2_ENST00000398556.3_Silent_p.F920F|BAI2_ENST00000398547.1_Silent_p.F905F|BAI2_ENST00000373655.2_Silent_p.F972F|BAI2_ENST00000527361.1_Silent_p.F972F|BAI2_ENST00000398538.1_Silent_p.F960F|BAI2_ENST00000398542.1_Silent_p.F905F	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	972					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGACAGGCAGAAGTTCAGCA	0.607000													31	5					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141016158	141016158	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:141016158C>T	ENST00000277549.5	+	47	6878	c.4309C>T	c.(4309-4311)Ccc>Tcc	p.P1437S	CACNA1B_ENST00000371363.1_Missense_Mutation_p.P2241S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P2244S|CACNA1B_ENST00000277551.2_Silent_p.T2180T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P2242S|CACNA1B_ENST00000371372.1_Missense_Mutation_p.P2243S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	2243					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCAGAGAGACCCCCTCAGCCA	0.672000													12	23					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225200	49225200	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:49225200C>T	ENST00000327979.2	-	10	1159	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K	FAM65C_ENST00000045083.2_Missense_Mutation_p.E250K|FAM65C_ENST00000535356.1_Missense_Mutation_p.E254K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	250										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTCCTCTTCGTCCCAGGTC	0.652000													52	79					0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81555290	81555290	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:81555290G>A	ENST00000327835.3	-	8	1338	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	369						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CTGTGCCTCTGGGTGGGGAGG	0.507000													5	21					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404428	20404428	+	Silent	SNP	G	G	A	rs149331677	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:20404428G>A	ENST00000285600.4	+	1	662	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGACCCTAACGAACAGTGGCC	0.448000													16	65					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348080	140348080	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:140348080C>T	ENST00000289269.5	+	1	2261	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		577	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCATGCCCCTCACATTCT	0.547000													18	20					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55417934	55417934	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:55417934G>A	ENST00000594765.1	+	3	149	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	NCR1_ENST00000598576.1_Missense_Mutation_p.E30K|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000291890.4_Missense_Mutation_p.E42K|NCR1_ENST00000447255.1_Missense_Mutation_p.E42K|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000338835.5_Missense_Mutation_p.E42K			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	42	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTTCCAAAGGAAAAGCAAGT	0.547000													39	13					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634333	122634333	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:122634333C>T	ENST00000195173.4	-	14	2245	c.1942G>A	c.(1942-1944)Ggc>Agc	p.G648S	SEMA5B_ENST00000357599.3_Missense_Mutation_p.G648S|SEMA5B_ENST00000451055.2_Missense_Mutation_p.G702S			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	648					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CAGTCAAGGCCCCCACAGCGG	0.597000													20	32					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917301	65917301	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:65917301C>T	ENST00000261892.6	+	2	1170	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	SLC24A1_ENST00000546330.1_Missense_Mutation_p.P295S|SLC24A1_ENST00000544319.2_Missense_Mutation_p.P295S|SLC24A1_ENST00000339868.6_Missense_Mutation_p.P295S|SLC24A1_ENST00000399033.4_Missense_Mutation_p.P295S|SLC24A1_ENST00000537259.1_Missense_Mutation_p.P295S	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	295					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTCAGCCCATCCCTGGGGGTT	0.527000													46	60					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89762197	89762197	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:89762197C>T	ENST00000268125.5	-	3	449	c.10G>A	c.(10-12)Ggg>Agg	p.G4R		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	4					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GTACTTACCCCTTCTGACATG	0.547000													8	14					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36776397	36776397	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:36776397C>T	ENST00000399881.3	+	23	2615	c.2578C>T	c.(2578-2580)Cct>Tct	p.P860S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	860						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCGAAAAGTCCCTATCCTTAC	0.363000													23	23					0	0	1	0	0
C6orf201	404220	broad.mit.edu	37	6	4099326	4099326	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:4099326C>T	ENST00000380175.4	+	3	943	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	C6orf201_ENST00000430835.2_Missense_Mutation_p.P60S|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Missense_Mutation_p.P63S	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	60										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAACAGAATGCCCCCGTGGAA	0.428000													17	34					0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124751486	124751486	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:124751486G>A	ENST00000321582.5	-	4	1714	c.1527C>T	c.(1525-1527)ccC>ccT	p.P509P	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Silent_p.P509P	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	509	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGAAGCACGTGGGGCCCGGCC	0.592000													25	60					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65275027	65275027	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:65275027C>T	ENST00000381210.3	-	1	153	c.43G>A	c.(43-45)Gca>Aca	p.A15T	TECRL_ENST00000507440.1_Missense_Mutation_p.A15T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	15					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GAAAGTAATGCTCTCTTGCGT	0.433000													25	15					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101603399	101603399	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:101603399G>A	ENST00000536262.2	-	1	786	c.228C>T	c.(226-228)tcC>tcT	p.S76S		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	76					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGTAGACCTCGGAGGGGGTGC	0.587000													19	27					0	0	1	0	0
TRGV2	6974	broad.mit.edu	37	7	38402650	38402650	+	RNA	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:38402650G>A	ENST00000426402.2	-	0	358																											TTCCCCTCCTGGTGTAGGTAC	0.498000													25	33					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538298	31538298	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:31538298C>T	ENST00000261592.5	-	7	1438	c.1141G>A	c.(1141-1143)Gga>Aga	p.G381R	NOL4_ENST00000589544.1_Missense_Mutation_p.G381R|NOL4_ENST00000535384.1_Missense_Mutation_p.G96R|NOL4_ENST00000538587.1_Missense_Mutation_p.G307R|NOL4_ENST00000535475.1_Missense_Mutation_p.G226R|NOL4_ENST00000269185.4_Missense_Mutation_p.G267R	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	381						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCCTCATCTCCCCTGTTTAGT	0.493000													34	70					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58301395	58301395	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:58301395A>G	ENST00000219299.4	+	7	875	c.796A>G	c.(796-798)Aag>Gag	p.K266E	CCDC113_ENST00000443128.2_Missense_Mutation_p.K212E	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	266						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CAAGCTTCACAAGGCAATGGA	0.408000													17	14					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2158925	2158925	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:2158925G>A	ENST00000262304.4	-	15	6451	c.6243C>T	c.(6241-6243)gcC>gcT	p.A2081A	PKD1_ENST00000423118.1_Silent_p.A2081A	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2081	PKD 17.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGCTGGTGGCGGCCTCAAACT	0.682000													6	7					0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395565	138395565	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:138395565C>T	ENST00000371785.1	+	5	686	c.477C>T	c.(475-477)gcC>gcT	p.A159A	MRPS2_ENST00000488610.1_3'UTR|MRPS2_ENST00000241600.5_Silent_p.A159A|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	159					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		AGAACATGGCCCGTGACTGTG	0.612000													13	25					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125804247	125804247	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:125804247C>T	ENST00000346248.5	-	3	1377	c.735G>A	c.(733-735)ggG>ggA	p.G245G	CHST15_ENST00000435907.1_Silent_p.G245G|CHST15_ENST00000421115.1_Silent_p.G245G	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	245					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GGAAGTGCTTCCCGTGCGCGT	0.657000													7	3					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40836131	40836131	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:40836131C>T	ENST00000264638.4	+	3	464	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	83	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCACCGGATCCGGGCCGTGGC	0.547000													52	41					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128445941	128445941	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:128445941C>T	ENST00000297788.4	+	7	1442	c.1075C>T	c.(1075-1077)Cac>Tac	p.H359Y	CCDC136_ENST00000487361.1_Missense_Mutation_p.H359Y|CCDC136_ENST00000378685.4_Missense_Mutation_p.H397Y|CCDC136_ENST00000464832.1_Missense_Mutation_p.H409Y	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	359						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TCAGACCTCCCACAGTGTCAC	0.612000													14	16					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45644851	45644851	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:45644851C>T	ENST00000327619.5	+	5	704	c.330C>T	c.(328-330)tcC>tcT	p.S110S	EYA2_ENST00000357410.3_Silent_p.S110S|EYA2_ENST00000317304.6_Silent_p.S110S	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	110					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TGAACCATTCCCCTGGCCAGA	0.532000													40	45					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15121771	15121771	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:15121771C>T	ENST00000292574.3	+	1	216	c.134C>T	c.(133-135)aCc>aTc	p.T45I		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	45					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAGGCGGTGACCATGTGGCAG	0.697000													8	3					0	0	1	0	0
C11orf65	160140	broad.mit.edu	37	11	108302523	108302523	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:108302523T>C	ENST00000393084.1	-	3	193	c.124A>G	c.(124-126)Aga>Gga	p.R42G	C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000529391.1_Missense_Mutation_p.R42G	NM_152587.3	NP_689800.3	Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	42										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		CCTTGTCTTCTTAAATCAATC	0.308000													31	9					0	0	1	0	0
GALNT12	79695	broad.mit.edu	37	9	101594193	101594193	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:101594193C>T	ENST00000375011.3	+	4	871	c.871C>T	c.(871-873)Cct>Tct	p.P291S		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	291						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCACACAGTTCCTGAGAGGGA	0.542000													5	11					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803331	20803331	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:20803331C>T	ENST00000289416.5	+	11	1809	c.1334C>T	c.(1333-1335)cCt>cTt	p.P445L	ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000450120.2_Missense_Mutation_p.P437L|ACSM3_ENST00000567387.1_3'UTR	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	445					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CAGGATAATCCTTCAAAAACA	0.368000													23	33					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081266	194081266	+	Silent	SNP	G	G	A	rs149184445		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:194081266G>A	ENST00000347624.3	-	2	592	c.507C>T	c.(505-507)ttC>ttT	p.F169F	LRRC15_ENST00000439944.2_Silent_p.F175F|LRRC15_ENST00000428839.1_Silent_p.F175F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	169						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CCAGGTGGTCGAAGGCTCCGT	0.592000													80	104					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417759	40417759	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:40417759C>T	ENST00000333407.5	+	4	1339	c.1245C>T	c.(1243-1245)tcC>tcT	p.S415S	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	415										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						AGCCCAAATCCCGAGAGGCAC	0.667000													11	19					0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79651110	79651110	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:79651110G>T	ENST00000329138.4	+	1	149	c.14G>T	c.(13-15)aGc>aTc	p.S5I		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	5					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)			GGGCGAGGCAGCGGCACCTTC	0.736000													3	5					0.115264	0.115574	1	1	0
ANKRD36	375248	broad.mit.edu	37	2	97866208	97866208	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:97866208G>T	ENST00000420699.2	+	46	3047	c.2803G>T	c.(2803-2805)Gat>Tat	p.D935Y	ANKRD36_ENST00000461153.2_Missense_Mutation_p.D935Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	935										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TGATGAGAAGGATTCTTTTTC	0.328000													3	5					0.150653	0.150856	1	1	0
TGM5	9333	broad.mit.edu	37	15	43525429	43525429	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:43525429A>T	ENST00000220420.5	-	13	2130	c.2123T>A	c.(2122-2124)aTt>aAt	p.I708N	TGM5_ENST00000349114.4_Missense_Mutation_p.I626N	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	708					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)	GTAACCCTTAATGTCCTTAAA	0.423000													16	21					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428970	139428970	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:139428970C>T	ENST00000272641.3	-	2	423	c.317G>A	c.(316-318)gGa>gAa	p.G106E		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	106	III.				neuropeptide signaling pathway	extracellular region		p.G106E(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CTTAAATTTTCCTGTTTTTAC	0.408000													11	25					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373172	24373172	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:24373172C>T	ENST00000005284.3	+	4	2138	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	312					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACAGGCGCACCACGCCCGTCT	0.552000													13	19					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491516	30491516	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:30491516G>A	ENST00000222823.4	-	6	2042	c.1517C>T	c.(1516-1518)cCc>cTc	p.P506L		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	506	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GTCACCCCCGGGGCCCAGCTC	0.622000													14	40					0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29683075	29683075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:29683075C>T	ENST00000397938.2	+	7	1064	c.745C>T	c.(745-747)Caa>Taa	p.Q249*	EWSR1_ENST00000331029.7_Nonsense_Mutation_p.Q249*|EWSR1_ENST00000333395.6_Nonsense_Mutation_p.Q249*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.Q249*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.Q249*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.Q193*|EWSR1_ENST00000414183.2_Nonsense_Mutation_p.Q255*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	249	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATCCTACAGCCAAGCTCCAAG	0.483000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								13	24					0	0	1	0	0
FAM170A	340069	broad.mit.edu	37	5	118970272	118970272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:118970272C>T	ENST00000515256.1	+	3	1001	c.829C>T	c.(829-831)Caa>Taa	p.Q277*				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	277	Glu-rich.					intracellular	zinc ion binding	p.Q277E(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						AGAGAGCACCCaagatgagca	0.537000													44	21					0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5831597	5831597	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:5831597G>A	ENST00000318336.4	-	3	2176	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C	FUT6_ENST00000286955.5_Missense_Mutation_p.R328C|FUT6_ENST00000592563.1_Missense_Mutation_p.R328C|FUT6_ENST00000527106.1_Missense_Mutation_p.R328C|FUT6_ENST00000524754.1_Missense_Mutation_p.R328C	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	328					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CTGAAGGAGCGAGGCCGCAGC	0.632000													39	13					0	0	1	0	0
C20orf196	149840	broad.mit.edu	37	20	5843778	5843778	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:5843778G>A	ENST00000303142.6	+	3	374	c.287G>A	c.(286-288)cGg>cAg	p.R96Q		NM_152504.2	NP_689717.2	Q8IYI0	CT196_HUMAN	chromosome 20 open reading frame 196	96										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GATGGCCTTCGGAAATCCCTG	0.463000													16	23					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53509210	53509210	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:53509210C>T	ENST00000301466.3	+	6	540	c.480C>T	c.(478-480)ttC>ttT	p.F160F		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	160					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TCTTCAGCTTCGGACAGCTGC	0.587000													14	26					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	67976655	67976655	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:67976655G>A	ENST00000262210.5	+	1	53	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_5'UTR|COPS5_ENST00000517736.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	8						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GCTCCAGGTGGCCGCTGTAAC	0.706000											OREG0018811	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	21					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201187757	201187757	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:201187757C>T	ENST00000335211.4	+	18	9999	c.9869C>T	c.(9868-9870)tCg>tTg	p.S3290L	IGFN1_ENST00000295591.8_Missense_Mutation_p.S450L	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGACCTCCATCGGATGCTGTC	0.632000													27	6					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161555	90161555	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:90161555C>T	ENST00000567960.1	+	0	291				TUBB8P7_ENST00000564451.1_RNA																							AGTGTGGGGCCGGAAACAACT	0.572000													7	8					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1393017	1393017	+	Splice_Site	SNP	T	T	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:1393017T>G	ENST00000324385.5	+	14	1528	c.1370_splice	c.e14+1	p.L457_splice	BAIAP3_ENST00000562208.1_Splice_Site_p.L399_splice|BAIAP3_ENST00000397489.1_Splice_Site_p.L439_splice|BAIAP3_ENST00000397488.2_Splice_Site_p.L439_splice|BAIAP3_ENST00000421665.2_Splice_Site_p.L386_splice|BAIAP3_ENST00000568887.1_Splice_Site_p.L394_splice|BAIAP3_ENST00000426824.3_Splice_Site_p.L422_splice	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	457					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)				CTGGCCGTGCTGTGAGTGGGT	0.672000													4	18					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420767	11420767	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:11420767C>T	ENST00000381842.3	-	0	453				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCTGGCTTTCCCGGACGAGG	0.642000													38	96					0	0	1	0	0
CPA3	1359	broad.mit.edu	37	3	148601470	148601470	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:148601470G>A	ENST00000296046.3	+	9	901	c.849G>A	c.(847-849)acG>acA	p.T283T	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	283					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGAAAGAGACGAAAGCTGTCA	0.448000													27	17					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898316	175898316	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:175898316C>T	ENST00000359240.3	+	5	2310	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	ADAM29_ENST00000445694.1_Missense_Mutation_p.S547L|ADAM29_ENST00000514159.1_Missense_Mutation_p.S547L|ADAM29_ENST00000404450.4_Missense_Mutation_p.S547L	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	547	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGTAATATCTCAGATGTCCAG	0.388000													26	45					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724638	7724638	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:7724638C>T	ENST00000303635.7	+	9	2238	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	CAMTA1_ENST00000439411.2_Silent_p.F677F	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	677					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)		TCATGCAGTTCCAGGCCAACT	0.642000			T	WWTR1	epitheliod hemangioendothelioma								87	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455156	179455156	+	Silent	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179455156A>G	ENST00000589042.1	-	304	61520	c.61296T>C	c.(61294-61296)ttT>ttC	p.F20432F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.F17864F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Silent_p.F18791F|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.F11367F|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.F11559F|TTN_ENST00000359218.5_Silent_p.F11492F|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18791	Fibronectin type-III 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTACCCTAAAGGCACATT	0.428000													32	34					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149152272	149152272	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:149152272G>A	ENST00000247930.4	-	2	1165	c.842C>T	c.(841-843)cCc>cTc	p.P281L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GCTTACCTTGGGAACTTCTCC	0.502000													39	81					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951685	119951685	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:119951685G>A	ENST00000307142.4	+	4	1951	c.1755G>A	c.(1753-1755)atG>atA	p.M585I	SYNPO2_ENST00000429713.2_Missense_Mutation_p.M585I|SYNPO2_ENST00000434046.2_Missense_Mutation_p.M585I|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	585						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGTCCCCATGAATAGAACGG	0.532000													23	35					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109865368	109865368	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:109865368G>A	ENST00000310903.5	+	19	1984	c.1878G>A	c.(1876-1878)agG>agA	p.R626R	MYO1H_ENST00000431443.2_Silent_p.R636R			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CATACCGAAGGAAATACGAGC	0.443000													60	113					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282145	152282145	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:152282145C>T	ENST00000368799.1	-	3	5252	c.5217G>A	c.(5215-5217)caG>caA	p.Q1739Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1739	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCCCAGCCTGTCCGTGGG	0.597000									Ichthyosis				231	41					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40034120	40034120	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:40034120G>A	ENST00000373233.3	-	37	7438	c.7261C>T	c.(7261-7263)Cca>Tca	p.P2421S	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2421					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTGTTTTCTGGAAGAAACCCC	0.567000													4	22					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446516	85446516	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:85446516G>A	ENST00000369663.5	-	8	2048	c.1711C>T	c.(1711-1713)Cct>Tct	p.P571S	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	571					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CCTTCCACAGGGGGCAACATC	0.527000													24	5					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7615505	7615505	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:7615505C>T	ENST00000221249.6	+	19	2363	c.1932C>T	c.(1930-1932)ggC>ggT	p.G644G	PNPLA6_ENST00000600737.1_Silent_p.G683G|PNPLA6_ENST00000545201.2_Silent_p.G618G|PNPLA6_ENST00000450331.3_Silent_p.G644G|PNPLA6_ENST00000414982.3_Silent_p.G692G|PNPLA6_ENST00000594864.1_3'UTR	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	683					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGAGTACGGCCGCGGCGACC	0.647000													41	4					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131848993	131848993	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:131848993C>T	ENST00000359827.3	-	24	5370	c.4408G>A	c.(4408-4410)Gag>Aag	p.E1470K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1470K			Q9HCM2	PLXA4_HUMAN	plexin A4	1470						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						GGGCCCTTCTCCATCTGCTGC	0.587000													18	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411202	179411202	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179411202C>T	ENST00000589042.1	-	342	95080	c.94856G>A	c.(94855-94857)cGa>cAa	p.R31619Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R29051Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29978Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22554Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22746Q|TTN_ENST00000359218.5_Missense_Mutation_p.R22679Q|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29978							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCGTGTAATCGGGCATCCAG	0.413000													7	9					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111696526	111696526	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:111696526A>G	ENST00000435970.1	-	15	3614	c.2798T>C	c.(2797-2799)aTg>aCg	p.M933T	REV3L_ENST00000368805.1_Missense_Mutation_p.M1011T|REV3L_ENST00000368802.3_Missense_Mutation_p.M1011T|REV3L_ENST00000358835.3_Missense_Mutation_p.M1011T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1011					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		ATATAGTTCCATTTTTTCTTC	0.318000								DNA polymerases (catalytic subunits)					30	15					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155140	106155140	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:106155140T>C	ENST00000513237.1	+	3	901	c.104T>C	c.(103-105)cTa>cCa	p.L35P	TET2_ENST00000380013.4_Missense_Mutation_p.L14P|TET2_ENST00000305737.2_Missense_Mutation_p.L14P|TET2_ENST00000540549.1_Missense_Mutation_p.L14P|TET2_ENST00000394764.1_Missense_Mutation_p.L14P|TET2_ENST00000545826.1_Missense_Mutation_p.L14P|TET2_ENST00000413648.2_Missense_Mutation_p.L14P			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	14					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGCAACAGACTAAGTCCATTC	0.507000			"""Mis N, F"""		MDS								5	9					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85594031	85594031	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:85594031C>T	ENST00000322366.6	-	67	10927	c.10520G>A	c.(10519-10521)cGa>cAa	p.R3507Q	WDFY3_ENST00000295888.4_Missense_Mutation_p.R3524Q			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3524						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R3524Q(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAACAATTTCGAGGCCCATC	0.458000													33	48					0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12618688	12618688	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:12618688C>T	ENST00000566228.1	+	20	2377	c.2308C>T	c.(2308-2310)Ccc>Tcc	p.P770S	SNX29_ENST00000323433.4_Missense_Mutation_p.P385S|SNX29_ENST00000306030.3_Missense_Mutation_p.P385S	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	385					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CCAGCTGATGCCCTTCTTCGT	0.577000													31	62					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255423	50255423	+	RNA	SNP	C	C	T	rs140222807	by1000genomes	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:50255423C>T	ENST00000420502.1	+	0	1083							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	ATACTGAGCTCAAGGAGTAGG	0.592000													12	17					0	0	1	0	0
CCDC30	728621	broad.mit.edu	37	1	43119538	43119538	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:43119538G>A	ENST00000428554.2	+	23	3334	c.2191G>A	c.(2191-2193)Gaa>Aaa	p.E731K	CCDC30_ENST00000507855.1_Missense_Mutation_p.E520K|CCDC30_ENST00000390640.4_Missense_Mutation_p.E520K|CCDC30_ENST00000340612.4_Missense_Mutation_p.E731K|CCDC30_ENST00000342022.4_Missense_Mutation_p.E731K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	731										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TCAAGAGACTGAAGAGATCAA	0.393000													32	8					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32193052	32193052	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:32193052G>A	ENST00000373658.3	-	33	5068	c.4727C>T	c.(4726-4728)cCa>cTa	p.P1576L	BAI2_ENST00000257070.4_Missense_Mutation_p.P1542L|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Missense_Mutation_p.P1166L|BAI2_ENST00000398556.3_Missense_Mutation_p.P1491L|BAI2_ENST00000398547.1_Missense_Mutation_p.P1490L|BAI2_ENST00000373655.2_Missense_Mutation_p.P1575L|BAI2_ENST00000527361.1_Missense_Mutation_p.P1542L|BAI2_ENST00000398538.1_Missense_Mutation_p.P1545L|BAI2_ENST00000398542.1_Missense_Mutation_p.P1457L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1576					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACCATCCGGTGGTTCTGTGGG	0.552000													20	5					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47084094	47084094	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:47084094G>A	ENST00000409792.3	-	17	7237	c.7195C>T	c.(7195-7197)Cga>Tga	p.R2399*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2399	WW.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1896*(2)|p.R2399*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTGGATCTCGAGCTGTCTTC	0.453000			"""N, F, S, Mis"""		clear cell renal carcinoma								25	41					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88424205	88424205	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:88424205C>T	ENST00000297203.2	-	2	237	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	18										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAAGAGGTTCCAGTGGCAAA	0.408000													16	38					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377595	230377595	+	Missense_Mutation	SNP	C	C	T	rs146813937	by1000genomes	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:230377595C>T	ENST00000341772.4	-	6	1185	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	351	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TGGCAAGCATCGTATTCTTCA	0.448000													25	36					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835152	172835152	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:172835152C>T	ENST00000351008.3	-	2	553	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	124					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			AACTTCATTTCCACATCCATT	0.418000													29	48					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42857929	42857929	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:42857929C>T	ENST00000334370.4	+	21	4198	c.3563C>T	c.(3562-3564)gCc>gTc	p.A1188V	MEGF8_ENST00000251268.6_Missense_Mutation_p.A1255V	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1255	Laminin EGF-like 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTCCCCAGGGCCGGTGGTTCC	0.677000													15	5					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113672800	113672800	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:113672800C>T	ENST00000330212.3	+	3	714	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	ZDHHC23_ENST00000498275.1_Silent_p.L133L	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	139						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AGAACAGACCCTGTTTTTCCT	0.552000													40	53					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2593905	2593905	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:2593905C>T	ENST00000358864.1	+	14	1824	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	603						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGGGGGACTTCCTACGGGCTT	0.532000													18	24					0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564138	8564138	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:8564138G>A	ENST00000423345.4	-	2	1074	c.554C>T	c.(553-555)tCc>tTc	p.S185F	PRAM1_ENST00000255612.3_Missense_Mutation_p.S185F			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	233	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GAATGCGCCGGATTTGGGTTC	0.677000													20	4					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6923438	6923438	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:6923438G>A	ENST00000011653.4	+	4	603	c.345G>A	c.(343-345)aaG>aaA	p.K115K	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_Silent_p.K60K	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	115	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				AGGACCAGAAGGAGGAGGTGC	0.512000													11	19					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158294191	158294191	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:158294191C>T	ENST00000392185.3	+	3	328	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S	RP11-52J3.2_ENST00000422776.1_RNA	NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	53	SH3.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AGGGCTGGTTCCCACAGACTA	0.388000													8	5					0	0	1	0	0
PCNP	57092	broad.mit.edu	37	3	101298752	101298752	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:101298752C>T	ENST00000265260.3	+	2	304	c.183C>T	c.(181-183)ctC>ctT	p.L61L	PCNP_ENST00000296024.5_Silent_p.L61L|PCNP_ENST00000486406.1_Intron|PCNP_ENST00000469941.1_Intron	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	61					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						CTGCCGACCTCCCAACAAAGC	0.453000													24	44					0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68568843	68568843	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:68568843C>T	ENST00000502604.1	+	9	1050	c.560C>T	c.(559-561)cCa>cTa	p.P187L	CDK7_ENST00000514676.1_Missense_Mutation_p.P243L|CDK7_ENST00000256443.3_Missense_Mutation_p.P280L			P50613	CDK7_HUMAN	cyclin-dependent kinase 7	280	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|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|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TTATTTAATCCATGTGCTCGA	0.338000								Nucleotide excision repair (NER)					22	9					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744542	37744542	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:37744542G>T	ENST00000539465.1	+	16	3106	c.2513G>T	c.(2512-2514)aGa>aTa	p.R838I	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R838I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	838						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGAGGAAAAGAAGGTCTTTC	0.547000													20	5					3.99206e-14	4.06841e-14	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228157962	228157962	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:228157962G>A	ENST00000396578.3	+	38	3428	c.3266G>A	c.(3265-3267)gGc>gAc	p.G1089D	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1089	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGGCAACCTGGCCCACCTGGA	0.502000													11	17					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377994	77377994	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:77377994T>C	ENST00000451710.3	-	26	3830	c.3593A>G	c.(3592-3594)aAg>aGg	p.K1198R	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.K1193R|TRPM6_ENST00000360774.1_Missense_Mutation_p.K1198R|TRPM6_ENST00000449912.2_Missense_Mutation_p.K1193R|TRPM6_ENST00000376864.4_Missense_Mutation_p.K1198R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1198					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TAAGGAGTCCTTTATAAAAGA	0.458000													13	13					0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776440	38776440	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:38776440C>T	ENST00000308973.4	-	4	1377	c.772G>A	c.(772-774)Gac>Aac	p.D258N	TLR10_ENST00000506111.1_Missense_Mutation_p.D258N|TLR10_ENST00000361424.2_Missense_Mutation_p.D258N|TLR10_ENST00000508334.1_Missense_Mutation_p.D258N	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	258					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						AGGAAAAGGTCGTCCCAGAGT	0.353000													20	27					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65273697	65273697	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:65273697C>T	ENST00000534336.1	+	0	8465					NR_002819.2																						TTCTCCTTTTCTCTGCAGGTG	0.453000													14	5					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317869	9317869	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:9317869C>T	ENST00000261336.2	-	19	2381	c.2353G>A	c.(2353-2355)Ggt>Agt	p.G785S	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.G654S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GAAGAGATACCAAGTCCAGCA	0.562000													33	28					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48460709	48460709	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:48460709G>A	ENST00000358536.4	-	12	3045	c.2776C>T	c.(2776-2778)Ccg>Tcg	p.P926S	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.P743S|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P926S|PLXNB1_ENST00000456774.1_Missense_Mutation_p.P743S	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	926					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACATGGACCGGCATCAACGTG	0.622000													3	22					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677047	73677047	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:73677047C>T	ENST00000264448.6	+	8	3501	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	ALMS1_ENST00000377715.1_Silent_p.D1130D|ALMS1_ENST00000409009.1_Silent_p.D1088D	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1130	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACTAGCAGACCAGAAGACTG	0.473000													54	87					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128445940	128445940	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:128445940C>T	ENST00000297788.4	+	7	1441	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S	CCDC136_ENST00000487361.1_Silent_p.S358S|CCDC136_ENST00000378685.4_Silent_p.S396S|CCDC136_ENST00000464832.1_Silent_p.S408S	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	358						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TTCAGACCTCCCACAGTGTCA	0.612000													14	17					0	0	1	0	0
USP1	7398	broad.mit.edu	37	1	62910742	62910742	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:62910742G>C	ENST00000339950.4	+	6	1706	c.891G>C	c.(889-891)caG>caC	p.Q297H	USP1_ENST00000371146.1_Missense_Mutation_p.Q297H	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	297					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AAGAGAACCAGAGACAAACTA	0.348000													25	12					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32772969	32772969	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:32772969A>T	ENST00000421745.2	+	64	12997	c.12863A>T	c.(12862-12864)tAt>tTt	p.Y4288F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4288					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)					CAACAGTTATATTGGGCCAAA	0.408000													10	13					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894377	166894377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:166894377C>T	ENST00000423058.2	-	15	2872	c.2855G>A	c.(2854-2856)tGg>tAg	p.W952*	SCN1A_ENST00000409050.1_Nonsense_Mutation_p.W924*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.W952*|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.W941*	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	952			W -> G (in SMEI; dbSNP:rs121918737).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTCTCTATCCACTCCCCACA	0.507000													48	91					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136263182	136263182	+	Splice_Site	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:136263182G>A	ENST00000371957.3	+	11	1188	c.1081_splice	c.e11+1	p.G361_splice	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	361							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)		AGATCAGCTAGGTAGGCCCCA	0.627000													9	17					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45907730	45907730	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:45907730G>A	ENST00000374391.2	+	4	576	c.523G>A	c.(523-525)Gga>Aga	p.G175R	ALOX5_ENST00000542434.1_Missense_Mutation_p.G175R	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	175	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)	TAGTGAAAAAGGAGTGGACTT	0.517000													11	21					0	0	1	0	0
OR2G3	81469	broad.mit.edu	37	1	247769582	247769582	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:247769582A>C	ENST00000320002.2	+	1	727	c.695A>C	c.(694-696)gAg>gCg	p.E232A	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	232					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)			AAATCAGTAGAGGCAAGGCAC	0.458000													29	7					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10366895	10366895	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:10366895G>A	ENST00000255381.2	-	8	824	c.714C>T	c.(712-714)acC>acT	p.T238T	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	238	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CATTCCTCACGGTCTTGGCAT	0.418000													24	11					0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25201907	25201907	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:25201907C>T	ENST00000360031.2	+	11	1162	c.980C>T	c.(979-981)cCc>cTc	p.P327L	ENTPD6_ENST00000376652.4_Missense_Mutation_p.P328L|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Missense_Mutation_p.P311L	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	328						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TGCTTGTCTCCCAGTTTCAAA	0.512000													13	19					0	0	1	0	0
RAB27B	5874	broad.mit.edu	37	18	52551593	52551593	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:52551593G>A	ENST00000262094.5	+	4	790	c.269G>A	c.(268-270)aGa>aAa	p.R90K	RAB27B_ENST00000586594.1_Intron	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	90					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		GCATTTTTCAGAGACGCCATG	0.423000													17	29					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8790682	8790682	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:8790682G>A	ENST00000405863.1	+	3	1010	c.99G>A	c.(97-99)ctG>ctA	p.L33L	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	33	II.					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		CAGAACTTCTGAAATCAGGAA	0.428000													20	41					0	0	1	0	0
DCD	117159	broad.mit.edu	37	12	55038502	55038502	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:55038502G>A	ENST00000293371.6	-	5	517	c.328C>T	c.(328-330)Cta>Tta	p.L110L	DCD_ENST00000456047.2_3'UTR	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	110					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TACAGCTATAGTACTGAGTCA	0.393000													4	10					0	0	1	0	0
TMEM82	388595	broad.mit.edu	37	1	16070999	16070999	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:16070999C>T	ENST00000375782.1	+	4	819	c.681C>T	c.(679-681)ttC>ttT	p.F227F	RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_3'UTR	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	227	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGGACTTCCTGACCACCT	0.652000													10	2					0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726524	25726524	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:25726524G>A	ENST00000297012.3	-	1	266	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	78					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGAATAATGCGAGTTTTTTTG	0.542000													27	52					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588812	247588812	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:247588812G>A	ENST00000366497.2	+	4	2847	c.2067G>A	c.(2065-2067)aaG>aaA	p.K689K	NLRP3_ENST00000391827.2_Silent_p.K689K|NLRP3_ENST00000348069.2_Silent_p.K689K|NLRP3_ENST00000336119.3_Silent_p.K689K|NLRP3_ENST00000366496.2_Silent_p.K689K|NLRP3_ENST00000391828.3_Silent_p.K689K|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	689					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACATGCCCAAGGAGGAAGAGG	0.512000													34	10					0	0	1	0	0
NKX3-1	4824	broad.mit.edu	37	8	23538747	23538747	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:23538747G>A	ENST00000380871.4	-	2	729	c.692C>T	c.(691-693)cCa>cTa	p.P231L	NKX3-1_ENST00000523261.1_Missense_Mutation_p.P156L	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	231					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CCAAAAAGCTGGGCTCCAGCT	0.552000													13	27					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40914977	40914977	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:40914977C>T	ENST00000346991.5	+	11	2983	c.2593C>T	c.(2593-2595)Cca>Tca	p.P865S	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.P839S			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	865	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding	p.P865>L(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ACCTAAATTTCCAAAGGAAAA	0.328000													19	29					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841890	8841890	+	Missense_Mutation	SNP	C	C	T	rs143214344		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:8841890C>T	ENST00000324060.2	+	1	575	c.500C>T	c.(499-501)cCc>cTc	p.P167L		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P167L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGCATTTTCCCTACTGTGCC	0.557000													75	32					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51676022	51676022	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:51676022G>A	ENST00000335449.6	+	4	530	c.474G>A	c.(472-474)ttG>ttA	p.L158L	GLDN_ENST00000396399.2_Silent_p.L34L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	158	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		p.L158L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACAACGGATTGGATGGACAGC	0.433000													5	15					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14949147	14949147	+	Splice_Site	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:14949147G>A	ENST00000285046.5	+	10	3375	c.3264_splice	c.e10-1	p.E1089_splice	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Splice_Site_p.E848_splice	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1089					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCACCCACAGGAAAACCTGCA	0.587000													18	26					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037423	75037423	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:75037423C>T	ENST00000326665.5	-	14	4189	c.3971G>A	c.(3970-3972)gGa>gAa	p.G1324E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1324	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTGTGTGTTTCCTTCTCCTTC	0.557000													28	14					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442314	138442314	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:138442314G>A	ENST00000344876.4	-	4	3663	c.3277C>T	c.(3277-3279)Cct>Tct	p.P1093S	PCDH18_ENST00000412923.2_Missense_Mutation_p.P1092S|PCDH18_ENST00000511115.1_Missense_Mutation_p.P273S|PCDH18_ENST00000510305.1_Missense_Mutation_p.P304S|PCDH18_ENST00000507846.1_Missense_Mutation_p.P872S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1093	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAATTTTCAGGGATCTCCTCC	0.478000													10	12					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858402	43858402	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:43858402G>A	ENST00000389420.3	-	10	1500	c.1501C>T	c.(1501-1503)Ccc>Tcc	p.P501S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.P501S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	501	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTATATGGGGACACATTTGT	0.338000													11	30					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70351077	70351077	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:70351077C>T	ENST00000305107.6	-	5	1205	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	UGT2B4_ENST00000512583.1_Intron|UGT2B4_ENST00000381096.3_Missense_Mutation_p.G251R|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	387				EAIYHG -> KAISPR (in Ref. 1; CAA68415).	estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATAGGGATTCCATGGTAGATT	0.433000													61	76					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397579	22397579	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:22397579G>A	ENST00000263160.3	+	10	1663	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	409					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TCTCATACTAGAGGGGTAGCA	0.378000													30	60					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42041780	42041780	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:42041780A>C	ENST00000219905.7	+	17	6156	c.5975A>C	c.(5974-5976)aAg>aCg	p.K1992T	MGA_ENST00000389936.4_Missense_Mutation_p.K1953T|MGA_ENST00000570161.1_Missense_Mutation_p.K1992T|MGA_ENST00000545763.1_Missense_Mutation_p.K1783T|MGA_ENST00000566586.1_Missense_Mutation_p.K1783T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1953						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GAAACGAAGAAGGTTCTACAG	0.408000													20	30					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221457	59221457	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:59221457C>T	ENST00000262717.4	+	12	2333	c.1935C>T	c.(1933-1935)caC>caT	p.H645H	CDH20_ENST00000538374.1_Silent_p.H645H|CDH20_ENST00000536675.2_Silent_p.H645H			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	645					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGAGGCGGCACCGGAAACAAC	0.562000													47	69					0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83838899	83838899	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:83838899C>T	ENST00000302236.5	+	5	1585	c.1534C>T	c.(1534-1536)Cgt>Tgt	p.R512C	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	512							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CCATTTTTTACGTTTAATTAA	0.363000													51	77					0	0	1	0	0
NR3C2	4306	broad.mit.edu	37	4	149357477	149357477	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:149357477G>A	ENST00000355292.3	-	2	898	c.536C>T	c.(535-537)gCc>gTc	p.A179V	NR3C2_ENST00000342437.4_Missense_Mutation_p.A179V|NR3C2_ENST00000511528.1_Missense_Mutation_p.A179V|NR3C2_ENST00000344721.4_Missense_Mutation_p.A179V|NR3C2_ENST00000358102.3_Missense_Mutation_p.A179V|NR3C2_ENST00000512865.1_Missense_Mutation_p.A179V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	179	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.A179V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTTAACAACGGCGCGCATGAC	0.507000													36	45					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29637989	29637989	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:29637989A>T	ENST00000494692.1	+	6	631	c.631A>T	c.(631-633)Aaa>Taa	p.K211*	MOG_ENST00000416766.2_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000376894.4_Intron|MOG_ENST00000396704.3_Nonsense_Mutation_p.K211*|MOG_ENST00000490427.1_Nonsense_Mutation_p.K95*|MOG_ENST00000376898.3_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000376902.3_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000376917.3_Intron|MOG_ENST00000431798.2_Intron	NM_001008228.2|NM_206811.3	NP_001008229.1|NP_996534.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	234					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TAAGGAACCAAAAAAGACAGG	0.478000													18	23					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962191	26962191	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:26962191G>A	ENST00000528896.2	-	16	2488	c.2414C>T	c.(2413-2415)cCc>cTc	p.P805L	KIAA0100_ENST00000389003.3_Missense_Mutation_p.P662L|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000544884.1_Missense_Mutation_p.P662L	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	805						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CGCAGGGAAGGGGTTCCGGTG	0.537000													37	17					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37570695	37570695	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:37570695C>T	ENST00000217429.4	+	2	708	c.667C>T	c.(667-669)Ctt>Ttt	p.L223F		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	193					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGTGTATATCCTTCTGGACCA	0.453000													25	39					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155236	106155236	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:106155236C>T	ENST00000513237.1	+	3	997	c.200C>T	c.(199-201)cCa>cTa	p.P67L	TET2_ENST00000380013.4_Missense_Mutation_p.P46L|TET2_ENST00000305737.2_Missense_Mutation_p.P46L|TET2_ENST00000540549.1_Missense_Mutation_p.P46L|TET2_ENST00000394764.1_Missense_Mutation_p.P46L|TET2_ENST00000545826.1_Missense_Mutation_p.P46L|TET2_ENST00000413648.2_Missense_Mutation_p.P46L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	46					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGAGCTCATCCAGAAGTAAAT	0.463000			"""Mis N, F"""		MDS								15	19					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45453114	45453114	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:45453114G>A	ENST00000321429.4	+	30	4189	c.3782G>A	c.(3781-3783)gGg>gAg	p.G1261E	DUOX1_ENST00000389037.3_Missense_Mutation_p.G1261E|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.G907E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1261	Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCATCTATGGGGGCGACAAG	0.572000													35	47					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11405611	11405611	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:11405611G>A	ENST00000259089.4	+	4	838	c.246G>A	c.(244-246)ggG>ggA	p.G82G	BLK_ENST00000529894.1_Silent_p.G11G	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	82	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TGCTGAAGGGGGAGAAGCTAC	0.552000													7	19					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51175900	51175900	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:51175900G>A	ENST00000251020.4	-	2	266	c.233C>T	c.(232-234)cCa>cTa	p.P78L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	78					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGGGGAGGCTGGATTTTCATT	0.443000													38	18					0	0	1	0	0
FZD3	7976	broad.mit.edu	37	8	28384774	28384774	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:28384774C>A	ENST00000240093.3	+	5	975	c.497C>A	c.(496-498)cCc>cAc	p.P166H	FZD3_ENST00000537916.1_Missense_Mutation_p.P166H	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	166					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTTTGGTGTCCCCGAGAGTTA	0.448000													35	63					1.21669e-08	1.23155e-08	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18023348	18023348	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:18023348C>T	ENST00000205890.5	+	2	1572	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	412	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTTGTGTACCCCTGGGTACC	0.657000													24	12					0	0	1	0	0
LINC01098	285501	broad.mit.edu	37	4	178882004	178882004	+	Translation_Start_Site	SNP	A	A	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:178882004A>C	ENST00000507870.1	+	3	463	c.1A>C	c.(1-3)Atg>Ctg	p.M1L																	lung(8)|prostate(1)	9						CCACATCAACATGAAAGATGA	0.348000													24	40					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20062514	20062514	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:20062514T>C	ENST00000379651.3	-	6	742	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E	MAP7D2_ENST00000543767.1_Missense_Mutation_p.K127E|MAP7D2_ENST00000452324.3_Missense_Mutation_p.K190E|MAP7D2_ENST00000443379.3_Missense_Mutation_p.K197E|MAP7D2_ENST00000379643.5_Missense_Mutation_p.K283E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	242										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGGGCTTCTTTCCCAACATCT	0.473000													47	9					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158017	102158017	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:102158017G>A	ENST00000299314.7	-	13	2940	c.2678C>T	c.(2677-2679)cCa>cTa	p.P893L		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	893					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTTCTCCCATGGCAAAAAGCC	0.378000													65	83					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18851151	18851151	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:18851151G>A	ENST00000446231.2	-	42	7226	c.6814C>T	c.(6814-6816)Cgt>Tgt	p.R2272C	SMG1_ENST00000389467.3_Missense_Mutation_p.R2272C			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2272	PI3K/PI4K.				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						CAATCCCGACGGGACACATCC	0.483000													4	12					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19653728	19653728	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:19653728G>A	ENST00000438132.3	+	22	2110	c.2062G>A	c.(2062-2064)Gag>Aag	p.E688K	C16orf62_ENST00000251143.5_Missense_Mutation_p.E599K|C16orf62_ENST00000417362.2_Missense_Mutation_p.E532K|C16orf62_ENST00000448695.1_Missense_Mutation_p.E449K|C16orf62_ENST00000542263.1_Missense_Mutation_p.E621K|C16orf62_ENST00000543152.1_Missense_Mutation_p.E348K	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	599						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						GCATCAACAAGAGCCCACCAA	0.428000													19	19					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152554150	152554150	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:152554150C>T	ENST00000427231.2	-	14	1367	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NEB_ENST00000172853.10_Missense_Mutation_p.E389K|NEB_ENST00000604864.1_Missense_Mutation_p.E389K|NEB_ENST00000409198.1_Missense_Mutation_p.E389K|NEB_ENST00000603639.1_Missense_Mutation_p.E389K|NEB_ENST00000397345.3_Missense_Mutation_p.E389K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	389					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCATAGTTTTCCTTGTATAGT	0.348000													16	18					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753784	49753784	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:49753784C>T	ENST00000304801.3	-	1	1269	c.1117G>A	c.(1117-1119)Ggt>Agt	p.G373S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	373					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GTGTCTCCACCCCCTATAACA	0.488000													26	74					0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99773900	99773900	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:99773900G>A	ENST00000292377.2	-	2	422	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	85						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCAGGCCTCGGAAGGTGGCCT	0.592000													9	17					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21156549	21156549	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:21156549G>A	ENST00000261383.3	-	3	400	c.401C>T	c.(400-402)aCc>aTc	p.T134I	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Missense_Mutation_p.T134I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	134	Stem (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)		GACACTGATGGTGGCCGGTTG	0.547000													6	12					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58840674	58840674	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:58840674G>A	ENST00000414170.3	+	7	1241	c.954G>A	c.(952-954)aaG>aaA	p.K318K	LIPC_ENST00000356113.6_Silent_p.K318K|LIPC_ENST00000433326.2_Silent_p.K257K|LIPC_ENST00000299022.5_Silent_p.K318K			P11150	LIPC_HUMAN	lipase, hepatic	318					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCTGCAAGAAGGGCCGCTGCA	0.627000													10	9					0	0	1	0	0
LCN8	138307	broad.mit.edu	37	9	139652367	139652367	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:139652367G>A	ENST00000371688.3	-	1	311	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W		NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	0					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		ACCTTCTGCCGGTCCAGCTCC	0.687000													13	15					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44737297	44737297	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:44737297C>T	ENST00000222673.5	+	17	2316	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	OGDH_ENST00000449767.1_Silent_p.I754I|OGDH_ENST00000447398.1_Silent_p.I769I|OGDH_ENST00000444676.1_Silent_p.I773I|OGDH_ENST00000439616.2_Silent_p.I608I|OGDH_ENST00000543843.1_Silent_p.I709I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	758					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTGTATCATCGACCAGTTCA	0.592000													34	47					0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35255538	35255538	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:35255538G>A	ENST00000373953.3	+	5	614	c.348G>A	c.(346-348)gaG>gaA	p.E116E	ZNF76_ENST00000440666.2_Silent_p.E90E|ZNF76_ENST00000339411.5_Silent_p.E116E	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	116					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TACAGACAGAGGTGGGCTTGG	0.617000													10	18					0	0	1	0	0
HSPB3	8988	broad.mit.edu	37	5	53751954	53751954	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:53751954G>A	ENST00000302005.1	+	1	510	c.335G>A	c.(334-336)aGa>aAa	p.R112K		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	112					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TTTATCTCAAGAAGCTTCACC	0.453000													28	17					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156422503	156422503	+	Silent	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:156422503T>C	ENST00000461166.1	+	6	2145	c.1557T>C	c.(1555-1557)ttT>ttC	p.F519F	TIPARP_ENST00000486483.1_Silent_p.F519F|TIPARP_ENST00000295924.7_Silent_p.F519F|TIPARP_ENST00000542783.1_Silent_p.F519F	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	519	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGAAAATGTTTGGCCGTGACA	0.388000													19	34					0	0	1	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136554976	136554976	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:136554976C>T	ENST00000355849.5	+	3	697	c.287C>T	c.(286-288)tCc>tTc	p.S96F	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	96	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ACAAAAATGTCCATCCTTGGG	0.363000													17	48					0	0	1	0	0
BMI1	648	broad.mit.edu	37	10	22618176	22618176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:22618176C>T	ENST00000376663.3	+	10	1191	c.686C>T	c.(685-687)cCt>cTt	p.P229L	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.P372L	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AGAGTTCGACCTACTTGTAAA	0.378000													9	22					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15563124	15563124	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:15563124G>A	ENST00000383785.2	-	1	134	c.9C>T	c.(7-9)gtC>gtT	p.V3V	COLQ_ENST00000383788.5_Silent_p.V3V|COLQ_ENST00000603808.1_Silent_p.V3V|COLQ_ENST00000383786.5_Silent_p.V3V|COLQ_ENST00000383787.2_Silent_p.V3V			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	3					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TTGGATTCAGGACAACCATGC	0.493000													13	12					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12866516	12866516	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:12866516G>A	ENST00000549706.1	+	7	1126	c.802G>A	c.(802-804)Gac>Aac	p.D268N	BEST2_ENST00000042931.1_Missense_Mutation_p.D268N|BEST2_ENST00000553030.1_Missense_Mutation_p.D268N			Q8NFU1	BEST2_HUMAN	bestrophin 2	268					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CAAAGACCACGACCTAGACCT	0.587000													22	10					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94223639	94223639	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:94223639C>A	ENST00000265986.6	-	21	2666	c.2610G>T	c.(2608-2610)atG>atT	p.M870I	IDE_ENST00000371581.5_Missense_Mutation_p.M315I|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	870					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGACTTTTCCATGGTAATTA	0.443000													52	32					6.34439e-16	6.47458e-16	1	1	0
KIAA1804	84451	broad.mit.edu	37	1	233515384	233515384	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:233515384C>T	ENST00000366624.3	+	9	2893	c.2632C>T	c.(2632-2634)Cct>Tct	p.P878S	MLK4_ENST00000366622.1_Missense_Mutation_p.P324S	NM_032435.2	NP_115811.2																					TGGGAATGTACCTTACTGTGC	0.458000													40	13					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235498	127235498	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:127235498C>T	ENST00000265825.5	+	2	501	c.282C>T	c.(280-282)tgC>tgT	p.C94C	FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	94						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ACCATGGGTGCTTTCTACTGC	0.567000													15	16					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994738	11994738	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:11994738C>T	ENST00000333796.3	-	1	1848	c.1532G>A	c.(1531-1533)aGg>aAg	p.R511K	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	511					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TCTCCTGGTCCTCCCTTGCAG	0.562000													23	48					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139911698	139911698	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:139911698G>A	ENST00000265662.5	-	18	2650	c.2503C>T	c.(2503-2505)Cga>Tga	p.R835*	ABCA2_ENST00000341511.6_Nonsense_Mutation_p.R835*|ABCA2_ENST00000371605.3_Nonsense_Mutation_p.R834*			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	834					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCTCCTCTCGGATCGCCACG	0.647000													26	31					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433930	73433930	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:73433930G>A	ENST00000263666.4	-	10	1901	c.1787C>T	c.(1786-1788)tCc>tTc	p.S596F	PDZRN3_ENST00000479530.1_Missense_Mutation_p.S313F|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S253F|PDZRN3_ENST00000535920.1_Missense_Mutation_p.S318F|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S253F	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	596							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGGGTTGGAGGATGCGGTGGC	0.637000													22	40					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14779961	14779961	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:14779961C>T	ENST00000358984.4	+	11	1603	c.1423C>T	c.(1423-1425)Cag>Tag	p.Q475*	ANKRD30B_ENST00000447268.2_Nonsense_Mutation_p.Q475*|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	475										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATTTTTAGATCAGATGTTCCC	0.289000													5	23					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164899	139164899	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:139164899A>T	ENST00000395297.1	-	13	1989	c.1819T>A	c.(1819-1821)Tca>Aca	p.S607T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	607										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTTTTGTCTGAAGAGATGGCA	0.463000										HNSCC(54;0.14)			48	61					0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121772	73121772	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:73121772G>A	ENST00000373189.5	+	6	887	c.835G>A	c.(835-837)Gac>Aac	p.D279N	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	279					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCTTCCCCAGGACTCCCTCAG	0.592000													21	13					0	0	1	0	0
EPN3	55040	broad.mit.edu	37	17	48614448	48614448	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:48614448C>T	ENST00000268933.3	+	2	1110	c.531C>T	c.(529-531)agC>agT	p.S177S	EPN3_ENST00000541226.1_Silent_p.S121S|EPN3_ENST00000537145.1_Silent_p.S232S	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	177						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AGGACTACAGCCGCTCCCGGG	0.657000													11	9					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119510976	119510976	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:119510976G>A	ENST00000368468.3	-	10	1840	c.1399C>T	c.(1399-1401)Ctg>Ttg	p.L467L		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	467					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TTGTGCTCCAGGAGGCCCCCT	0.527000													10	5					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17772199	17772199	+	Silent	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:17772199A>G	ENST00000378814.5	-	36	4376	c.4377T>C	c.(4375-4377)ccT>ccC	p.P1459P	KIF13A_ENST00000259711.6_Silent_p.P1472P|KIF13A_ENST00000378826.2_Silent_p.P1472P|KIF13A_ENST00000378843.2_Silent_p.P1459P|KIF13A_ENST00000378816.5_Silent_p.P1472P	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1472					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCTCTTTTACAGGCATTAGGG	0.463000													54	100					0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71392759	71392759	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:71392759C>T	ENST00000373279.4	+	4	469	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	C10orf35_ENST00000491890.1_3'UTR	NM_145306.2	NP_660349.1	Q96D05	CJ035_HUMAN	chromosome 10 open reading frame 35	104						integral to membrane				breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTTGGTGTTCGTGGCCTCCT	0.587000													42	7					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8375244	8375244	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:8375244C>G	ENST00000538603.1	-	7	1127	c.569G>C	c.(568-570)aGt>aCt	p.S190T	FAM90A1_ENST00000307435.6_Missense_Mutation_p.S190T	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	190							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GGAGCTCAGACTGGCTTTTCT	0.597000													23	26					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932868	32932868	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:32932868C>T	ENST00000383763.4	+	4	2235	c.2172C>T	c.(2170-2172)atC>atT	p.I724I		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	724					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCACCGGATCCAGCTGTTTG	0.547000													8	15					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664776	124664776	+	Silent	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:124664776A>G	ENST00000325995.7	-	1	414	c.391T>C	c.(391-393)Ttg>Ctg	p.L131L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	131										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CTGGGGGCCAACTGGCTCTGC	0.562000													9	25					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878832	5878832	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:5878832C>T	ENST00000537935.1	-	1	132	c.101G>A	c.(100-102)gGa>gAa	p.G34E	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAGGGACTCCAATCCAAAT	0.463000													30	48					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612465	179612465	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179612465G>A	ENST00000360870.5	-	46	14884	c.14662C>T	c.(14662-14664)Cct>Tct	p.P4888S	TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1011	Ig-like 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTAATTTAGGAATATTTTGA	0.373000													13	24					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47461025	47461025	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:47461025G>A	ENST00000265565.5	-	13	2145	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	SCAP_ENST00000441517.2_Missense_Mutation_p.S323F|SCAP_ENST00000545718.1_Missense_Mutation_p.S186F	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	578					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGGAAGATGGAGAAGGCAGG	0.647000													20	39					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099259	168099259	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:168099259C>T	ENST00000409195.1	+	9	1446	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P453S|XIRP2_ENST00000409273.1_Missense_Mutation_p.P231S|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	278					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAAGAATTTCCTCCTCCCCC	0.458000													26	29					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115590950	115590950	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:115590950G>A	ENST00000265440.7	-	6	673	c.493C>T	c.(493-495)Ctt>Ttt	p.L165F	TFEC_ENST00000484212.1_Missense_Mutation_p.L255F|TFEC_ENST00000457268.1_Missense_Mutation_p.L98F|TFEC_ENST00000393485.1_Missense_Mutation_p.L136F|TFEC_ENST00000320239.7_Missense_Mutation_p.L136F	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	165	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TTTGGAATAAGAGTGCCAAGC	0.323000													11	16					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774170	151774170	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:151774170C>T	ENST00000368820.3	-	2	1948	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	337						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTCTAGTGTCTGAAGGGCGT	0.582000													65	13					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74725333	74725333	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:74725333G>A	ENST00000308807.7	-	4	1027	c.564C>T	c.(562-564)atC>atT	p.I188I	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	188							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GCTCTTGCGGGATCTCCTGCA	0.483000													75	35					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113933969	113933969	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:113933969G>A	ENST00000297405.5	-	10	1764	c.1520C>T	c.(1519-1521)aCt>aTt	p.T507I	CSMD3_ENST00000343508.3_Missense_Mutation_p.T467I|CSMD3_ENST00000455883.2_Missense_Mutation_p.T403I|CSMD3_ENST00000352409.3_Missense_Mutation_p.T507I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	507	Sushi 2.					integral to membrane|plasma membrane		p.T467N(1)|p.T507N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAACTGCACAGTTGATCCAAG	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	34					0	0	1	0	0
PHLDB3	653583	broad.mit.edu	37	19	43979659	43979659	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:43979659T>A	ENST00000292140.5	-	16	2186	c.1826A>T	c.(1825-1827)tAc>tTc	p.Y609F		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	609	PH.									breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				AAGGCGTTCGTAGGTTTTGAC	0.572000													22	6					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10354196	10354196	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:10354196C>T	ENST00000255381.2	-	29	3992	c.3882G>A	c.(3880-3882)caG>caA	p.Q1294Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1294					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTCATCTAGCTGTCGTGAAA	0.368000													21	17					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675132	40675132	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:40675132G>A	ENST00000416151.2	+	1	211	c.96G>A	c.(94-96)cgG>cgA	p.R32R	KNSTRN_ENST00000249776.8_Silent_p.R32R|KNSTRN_ENST00000448395.2_Silent_p.R32R	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		CTAGCTACCGGAAGTTTCTAT	0.577000													37	45					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20940084	20940084	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:20940084C>T	ENST00000263205.7	+	17	2270	c.2201C>T	c.(2200-2202)cCg>cTg	p.P734L	MED15_ENST00000382974.2_Missense_Mutation_p.P623L|MED15_ENST00000292733.7_Missense_Mutation_p.P694L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.P583L|MED15_ENST00000541476.1_Missense_Mutation_p.P668L|MED15_ENST00000406969.1_Missense_Mutation_p.P668L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	734					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GCCCAAAGCCCGCTGTGGATA	0.587000													15	26					0	0	1	0	0
LAMP3	27074	broad.mit.edu	37	3	182853510	182853510	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:182853510C>T	ENST00000265598.3	-	5	1367	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	LAMP3_ENST00000466939.1_Missense_Mutation_p.G347E	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	371					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTTACCATTTCCAAAGTGGTC	0.473000													59	73					0	0	1	0	0
GPLD1	2822	broad.mit.edu	37	6	24437486	24437486	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:24437486C>T	ENST00000230036.1	-	21	2162	c.2052G>A	c.(2050-2052)gtG>gtA	p.V684V		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	684						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GGTGTAGGGTCACGGTCAGGA	0.577000													15	22					0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48547442	48547442	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:48547442G>A	ENST00000378654.3	-	5	676	c.620C>T	c.(619-621)cCt>cTt	p.P207L	SUCLA2_ENST00000544100.1_Missense_Mutation_p.P73L|SUCLA2_ENST00000543413.1_Missense_Mutation_p.P149L|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000534875.1_Missense_Mutation_p.P149L	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	207	ATP-grasp.				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	AATATCAATAGGTTCTTTAAT	0.363000													12	29					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36093645	36093645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:36093645C>T	ENST00000225893.4	-	3	1075	c.714G>A	c.(712-714)tgG>tgA	p.W238*	HNF1B_ENST00000561193.1_Nonsense_Mutation_p.W212*|HNF1B_ENST00000427275.2_Nonsense_Mutation_p.W212*|HNF1B_ENST00000560016.1_Nonsense_Mutation_p.W238*	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	238					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.W238*(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			ACGCGGGCCCCCATTTGAACC	0.562000													42	17					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34066550	34066550	+	Silent	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:34066550T>C	ENST00000382499.2	-	6	893	c.894A>G	c.(892-894)caA>caG	p.Q298Q	SYNJ1_ENST00000382491.3_Silent_p.Q259Q|SYNJ1_ENST00000357345.3_Silent_p.Q259Q|SYNJ1_ENST00000322229.7_Silent_p.Q259Q|SYNJ1_ENST00000433931.2_Silent_p.Q298Q	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	259	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCAACCCTGGTTGCTCCCAGA	0.303000													8	9					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87969757	87969757	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:87969757C>T	ENST00000369577.3	+	8	6453	c.6410C>T	c.(6409-6411)gCt>gTt	p.A2137V	ZNF292_ENST00000339907.4_Missense_Mutation_p.A2132V	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATTACCAGGCTGTACACAAA	0.403000													28	3					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30128324	30128324	+	Splice_Site	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:30128324G>A	ENST00000484663.1	-	6	1699	c.565_splice	c.e6-1	p.A189_splice	MAPK3_ENST00000395200.1_Splice_Site_p.A235_splice|MAPK3_ENST00000263025.4_Splice_Site_p.A303_splice|MAPK3_ENST00000395199.3_Splice_Site_p.A303_splice|MAPK3_ENST00000322266.5_Splice_Site_p.A259_splice|MAPK3_ENST00000395202.1_Splice_Site_p.A259_splice|MAPK3_ENST00000403394.1_Splice_Site_p.A303_splice			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	303	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CAGGTCAAGGGCTATGGAAGG	0.582000													39	98					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167895974	167895974	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:167895974C>T	ENST00000265293.4	+	23	3796	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F	WWC1_ENST00000521089.1_Silent_p.F1104F	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1098	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.F1098F(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGGCATTTTTCACCCGGCCTC	0.478000													13	5					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11187687	11187687	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:11187687C>T	ENST00000337414.4	-	9	2619	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.E380K|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.E583K|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.E615K|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.E408K|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.E392K|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.E380K	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	583	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCCGTGCTCTCCTCAGCCCGG	0.483000													26	11					0	0	1	0	0
SSB	6741	broad.mit.edu	37	2	170662013	170662013	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:170662013G>A	ENST00000409333.1	+	3	343	c.96G>A	c.(94-96)cgG>cgA	p.R32R	SSB_ENST00000260956.4_Silent_p.R32R			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	32	HTH La-type RNA-binding.				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ATTTGCCACGGGACAAGTTTC	0.338000													10	23					0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108366510	108366510	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:108366510G>A	ENST00000223528.2	+	5	508	c.384G>A	c.(382-384)cgG>cgA	p.R128R	FKTN_ENST00000602661.1_Silent_p.R128R|FKTN_ENST00000448551.2_Silent_p.R128R|FKTN_ENST00000540160.1_Silent_p.R128R|FKTN_ENST00000357998.5_Silent_p.R128R	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	128					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity	p.R128R(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GCTGGTTTCGGATAGCTGAGA	0.408000													16	37					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197395	26197395	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:26197395C>T	ENST00000377831.5	-	2	537	c.84G>A	c.(82-84)aaG>aaA	p.K28K	HIST1H3D_ENST00000356476.2_Silent_p.K28K	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	28					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CTGGAGCGCTCTTTCGAGCAG	0.652000													33	29					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324318	24324318	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:24324318C>T	ENST00000175238.6	+	6	479	c.396C>T	c.(394-396)ttC>ttT	p.F132F	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Silent_p.F132F|ADAM7_ENST00000380789.1_Silent_p.F132F|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	132					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACAGGGGATTCTTCAGAATAA	0.373000													19	31					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53957769	53957769	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:53957769C>T	ENST00000396328.1	-	14	2201	c.1962_splice	c.e14+1	p.K654_splice	WDR72_ENST00000559418.1_Splice_Site_p.K664_splice|WDR72_ENST00000557913.1_Splice_Site_p.K651_splice|WDR72_ENST00000360509.5_Splice_Site_p.K654_splice	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	654										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTGAACTTACCTTACATGAAG	0.408000													11	29					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120622640	120622640	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:120622640G>A	ENST00000300648.6	-	3	184	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	58					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATCGATGCAGAGTCAAGCAG	0.478000													16	27					0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222512	27222512	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:27222512C>T	ENST00000230582.3	+	10	1206	c.1191C>T	c.(1189-1191)ctC>ctT	p.L397L	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Silent_p.L140L	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	397					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTCCCAGCTCCCAGCACTGC	0.547000													35	58					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036942	177036942	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:177036942C>T	ENST00000468418.3	+	4	3329	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	HOXD3_ENST00000249440.3_Silent_p.L413L|HOXD3_ENST00000410016.1_Silent_p.L413L			P31249	HXD3_HUMAN	homeobox D3	413					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L413L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ACACAGATCTCTCGGCCCACC	0.642000													17	20					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21329711	21329711	+	Splice_Site	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:21329711T>C	ENST00000256958.2	+	5	457	c.359_splice	c.e5-1	p.Y121_splice		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	121					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTCTTACAGTTACAGGTATTC	0.284000													12	19					0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73238462	73238462	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:73238462C>T	ENST00000541685.1	-	2	184	c.172G>A	c.(172-174)Gag>Aag	p.E58K	DPF3_ENST00000556509.1_Missense_Mutation_p.E58K|DPF3_ENST00000546183.1_Missense_Mutation_p.E68K	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	58					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGCCTCTTCTCCATCCAGATG	0.627000													20	10					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88924452	88924452	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:88924452C>T	ENST00000263321.5	+	2	1404	c.902C>T	c.(901-903)cCt>cTt	p.P301L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	301					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CGGCGTAATCCTGGAAACCAT	0.468000													30	21					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100888951	100888951	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:100888951G>A	ENST00000343933.5	-	11	1583	c.1326C>T	c.(1324-1326)tcC>tcT	p.S442S	CORO2A_ENST00000375077.4_Silent_p.S442S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	442					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCAACAGGGAGGAAGACCTCC	0.547000													43	75					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090102	9090102	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:9090102G>A	ENST00000397910.4	-	1	1916	c.1713C>T	c.(1711-1713)acC>acT	p.T571T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	571	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			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						TGGTCTTCAGGGTGGTGAAGC	0.527000													48	7					0	0	1	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070903	141070903	+	RNA	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:141070903G>A	ENST00000503395.1	+	0	1678																											CCTCGCCCAAGGTGTCAGACA	0.552000													11	22					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234113176	234113176	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:234113176C>T	ENST00000359570.5	+	28	3344	c.3344C>T	c.(3343-3345)tCg>tTg	p.1115_1115insL	INPP5D_ENST00000455936.2_Missense_Mutation_p.879_879insL|INPP5D_ENST00000450745.1_Missense_Mutation_p.879_879insL			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCTTCCAGATCGGAAATCAAC	0.721000													3	2					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082264	140082264	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:140082264G>A	ENST00000323927.2	-	2	413	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AAGCCCAGGCGAGTCCATTTC	0.582000													19	48					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447094	138447094	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:138447094C>T	ENST00000310018.2	-	7	785	c.503G>A	c.(502-504)gGa>gAa	p.G168E	ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.G168E|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.G168E	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	168					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCCAACTTTCCGGTCATATA	0.458000													17	27					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119252906	119252906	+	Silent	SNP	G	G	A	rs12505679		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:119252906G>A	ENST00000296498.3	-	4	1218	c.936C>T	c.(934-936)gcC>gcT	p.A312A		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	312	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CTTCTGCATCGGCATCATCCC	0.493000													18	20					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720556	95720556	+	RNA	SNP	T	T	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:95720556T>A	ENST00000480546.1	-	0	741					NR_002319.2																						ATATGCATTTTTACCGATCTT	0.453000													20	12					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544235	154544235	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:154544235C>T	ENST00000368476.3	+	5	1200	c.936C>T	c.(934-936)atC>atT	p.I312I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	312					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CCTTCTCCATCGTCACCAGCG	0.632000													40	10					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27938590	27938590	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:27938590G>A	ENST00000299340.4	-	2	514	c.171C>T	c.(169-171)atC>atT	p.I57I	AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000400043.3_Silent_p.I57I|CYYR1_ENST00000435845.2_Silent_p.I165I	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	57						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						CTCACGAGAGGATATTCCCAA	0.428000													9	17					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126176341	126176341	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:126176341T>G	ENST00000368357.3	+	4	578	c.226T>G	c.(226-228)Tta>Gta	p.L76V	NCOA7_ENST00000487635.1_3'UTR|NCOA7_ENST00000392477.2_Missense_Mutation_p.L76V|NCOA7_ENST00000229634.9_Intron	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	76					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AAGTAATCAGTTAAAGGAGAT	0.318000													44	18					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75886364	75886364	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:75886364G>A	ENST00000274364.6	+	8	1069	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	258					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATATCAGAAAGAACTCTGGGA	0.363000													17	10					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215843107	215843107	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:215843107G>A	ENST00000272895.7	-	33	5280	c.5061C>T	c.(5059-5061)tcC>tcT	p.S1687S	ABCA12_ENST00000389661.4_Silent_p.S1369S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1687					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATTGGCATTGGAATTCCCAA	0.378000													9	18					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70643723	70643723	+	Silent	SNP	C	C	T	rs145968132		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:70643723C>T	ENST00000542342.2	-	10	1117	c.1029G>A	c.(1027-1029)taG>taA	p.*343*	SLC39A11_ENST00000255559.3_Silent_p.*336*|SLC39A11_ENST00000579988.1_5'UTR	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	0					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGTCTCAGCCCTAGCCCAGGC	0.502000													5	7					0	0	1	0	0
DHDDS	79947	broad.mit.edu	37	1	26795609	26795609	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:26795609C>A	ENST00000360009.2	+	9	1069	c.992C>A	c.(991-993)aCt>aAt	p.T331N	DHDDS_ENST00000525682.2_Missense_Mutation_p.T296N|DHDDS_ENST00000236342.7_Missense_Mutation_p.T330N|DHDDS_ENST00000526219.1_Missense_Mutation_p.T291N	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	330							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)		CGTCTGGGCACTGCATCAGCC	0.607000													49	11					6.3237e-29	6.49791e-29	1	1	0
RLBP1	6017	broad.mit.edu	37	15	89762196	89762196	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:89762196C>T	ENST00000268125.5	-	3	450	c.12_splice	c.e3+1	p.G4_splice		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	4					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	GGTACTTACCCCTTCTGACAT	0.547000													8	13					0	0	1	0	0
GDNF	2668	broad.mit.edu	37	5	37815977	37815977	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:37815977C>T	ENST00000326524.2	-	3	611	c.412G>A	c.(412-414)Gag>Aag	p.E138K	GDNF_ENST00000515058.1_Missense_Mutation_p.E112K|GDNF_ENST00000344622.4_Missense_Mutation_p.E112K|GDNF_ENST00000381826.4_Missense_Mutation_p.E129K|GDNF_ENST00000427982.1_Missense_Mutation_p.E155K	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	138					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					ATCAGTTCCTCCTTGGTTTCA	0.458000													27	15					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123202732	123202732	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:123202732C>T	ENST00000264501.4	+	52	9213	c.8840C>T	c.(8839-8841)tCt>tTt	p.S2947F	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2947F|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2947F			Q2LD37	K1109_HUMAN	KIAA1109	2947					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCACTACCTTCTGAAAAAACC	0.343000													15	24					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22902734	22902734	+	Missense_Mutation	SNP	G	G	A	rs142067038		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:22902734G>A	ENST00000166244.3	+	3	256	c.184G>A	c.(184-186)Gag>Aag	p.E62K	EPHA8_ENST00000374644.4_Missense_Mutation_p.E62K|EPHA8_ENST00000538803.1_Missense_Mutation_p.E62K	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	62						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGAGGTGGACGAGTCCTTCCA	0.602000													78	25					0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9453517	9453517	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:9453517C>T	ENST00000393883.2	+	6	2038	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.P464S|ZNF559_ENST00000587557.1_Missense_Mutation_p.P528S|ZNF559_ENST00000538743.1_Missense_Mutation_p.P384S|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000317221.7_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						AGGGGAGAGGCCATATAAATG	0.448000													37	4					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158591	34158591	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:34158591G>A	ENST00000373381.4	-	25	4167	c.3991C>T	c.(3991-3993)Ccc>Tcc	p.P1331S	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P204S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1291	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTTCATAGGGAGCTGGATAC	0.547000													108	21					0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40343132	40343132	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:40343132G>A	ENST00000344138.4	+	2	285	c.22G>A	c.(22-24)Gat>Aat	p.D8N	GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000478445.1_Intron|GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000543252.1_Missense_Mutation_p.D8N|GRAP2_ENST00000407075.3_Missense_Mutation_p.D8N	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	8	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGCCAAGTTTGATTTCACTGC	0.522000													25	43					0	0	1	0	0
DOK6	220164	broad.mit.edu	37	18	67231792	67231792	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:67231792C>T	ENST00000382713.5	+	2	326	c.136C>T	c.(136-138)Cca>Tca	p.P46S	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	46	PH.						insulin receptor binding	p.P46S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGAAAAATTTCCAGATGAAAA	0.418000													14	19					0	0	1	0	0
SERINC1	57515	broad.mit.edu	37	6	122768396	122768396	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:122768396G>A	ENST00000368454.1	-	10	1194	c.865C>T	c.(865-867)Cca>Tca	p.P289S	SERINC1_ENST00000339697.3_Missense_Mutation_p.P289S			Q9NRX5	SERC1_HUMAN	serine incorporator 1	289					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		AGTAGACTTGGGTTGCAATTT	0.333000													31	19					0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14650601	14650601	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:14650601C>T	ENST00000544627.1	+	15	3751	c.3431C>T	c.(3430-3432)cCc>cTc	p.P1144L	ATF7IP_ENST00000536444.1_Missense_Mutation_p.P1135L|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P1136L|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P1136L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1136					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CCCCCACGCCCCGTGCACCCA	0.483000													15	34					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47512160	47512160	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:47512160G>A	ENST00000371901.3	+	9	1345	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	CYP4X1_ENST00000538609.1_Silent_p.S364S	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	365						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.S365S(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GTGAGATGTCGTACACCACAA	0.483000													31	6					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348079	140348079	+	Silent	SNP	C	C	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:140348079C>A	ENST00000289269.5	+	1	2260	c.1728C>A	c.(1726-1728)gcC>gcA	p.A576A	PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		576	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACCATGCCCCTCACATTC	0.552000													18	20					5.35267e-07	5.39607e-07	1	1	0
ASS1	445	broad.mit.edu	37	9	133370305	133370305	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:133370305C>T	ENST00000372394.1	+	14	1503	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	ASS1_ENST00000372393.3_Missense_Mutation_p.S341F|ASS1_ENST00000352480.5_Missense_Mutation_p.S341F			P00966	ASSY_HUMAN	argininosuccinate synthase 1	341			S -> F (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	ATCGCCAAGTCCCAGGAGCGA	0.592000													12	19					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209179989	209179989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:209179989G>A	ENST00000264380.4	+	15	2057	c.1899G>A	c.(1897-1899)tgG>tgA	p.W633*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	633					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CATCATCTTGGAGGGACATCA	0.433000													16	20					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898849	130898849	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:130898849C>T	ENST00000261655.4	-	14	2636	c.2473G>A	c.(2473-2475)Gat>Aat	p.D825N		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	825						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGCCCGTAATCGTCTGCGAGC	0.572000													14	23					0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094412	150094412	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:150094412C>T	ENST00000329630.5	+	3	950	c.843C>T	c.(841-843)ttC>ttT	p.F281F		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		cgcgccAGTTCATCTGCAACG	0.731000													12	18					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157512925	157512925	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:157512925G>A	ENST00000361835.3	-	6	1004	c.847C>T	c.(847-849)Cct>Tct	p.P283S	FCRL5_ENST00000368189.3_Missense_Mutation_p.P283S|FCRL5_ENST00000356953.4_Missense_Mutation_p.P283S|FCRL5_ENST00000368191.3_Missense_Mutation_p.P198S|FCRL5_ENST00000368190.3_Missense_Mutation_p.P283S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	283						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGAGATGCAGGGACTGAGCAA	0.478000													14	3					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433022	55433022	+	Missense_Mutation	SNP	C	C	G	rs139660252		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:55433022C>G	ENST00000314259.3	+	1	409	c.380C>G	c.(379-381)cCc>cGc	p.P127R		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P127L(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATCTGTAAGCCCCTGCACTAC	0.547000													13	12					0	0	1	0	0
SYCP2L	221711	broad.mit.edu	37	6	10903145	10903145	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:10903145C>T	ENST00000283141.6	+	8	886	c.590C>T	c.(589-591)cCt>cTt	p.P197L	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_Missense_Mutation_p.P38L	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	197						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CACGCTGTCCCTCGAGAAGAG	0.388000													12	27					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757862	242757862	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:242757862G>A	ENST00000391969.2	+	5	1654	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K	NEU4_ENST00000407683.1_Missense_Mutation_p.E315K|NEU4_ENST00000405370.1_Missense_Mutation_p.E315K|NEU4_ENST00000325935.6_Missense_Mutation_p.E328K|NEU4_ENST00000404257.1_Missense_Mutation_p.E327K	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	315	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TGGAGTCCACGAACCCCCAGA	0.716000													4	11					0	0	1	0	0
ASF1B	55723	broad.mit.edu	37	19	14247206	14247206	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:14247206G>A	ENST00000263382.3	-	1	562	c.63C>T	c.(61-63)ccC>ccT	p.P21P	ASF1B_ENST00000474890.1_Silent_p.P21P|ASF1B_ENST00000592798.1_Silent_p.P21P	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	21	Interaction with CHAF1B.|Interaction with histone H3 (By similarity).				cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CGAACCGGAAGGGGCTGTGGA	0.726000													36	11					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10541402	10541402	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:10541402G>A	ENST00000583535.1	-	27	3774	c.3687C>T	c.(3685-3687)atC>atT	p.I1229I	MYH3_ENST00000226209.7_Silent_p.I1229I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1229					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AGAGGTCATCGATCTCCAGCT	0.567000													31	9					0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092777	30092777	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:30092777C>T	ENST00000567636.1	+	0	1152					NR_003558.1																						GAACTGACTCCTCTTCAAGCC	0.438000													9	32					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546766	9546766	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:9546766G>A	ENST00000378429.3	-	6	1802	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	PAK7_ENST00000353224.5_Missense_Mutation_p.S419F|PAK7_ENST00000378423.1_Missense_Mutation_p.S419F	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	419	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGGTCGGAGGAGGAGCCCCA	0.642000													22	41					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238296739	238296739	+	Silent	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:238296739T>C	ENST00000295550.4	-	4	1250	c.798A>G	c.(796-798)gtA>gtG	p.V266V	COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000346358.4_Silent_p.V266V|COL6A3_ENST00000353578.4_Silent_p.V60V|COL6A3_ENST00000392004.3_Silent_p.V60V|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000409809.1_Silent_p.V60V|COL6A3_ENST00000392003.2_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	266	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAAGGAGATTTACAAGGAAGT	0.443000													29	33					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769071	57769071	+	Silent	SNP	T	T	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:57769071T>G	ENST00000371030.2	+	1	2997	c.2997T>G	c.(2995-2997)ggT>ggG	p.G999G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	999						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCTCCCCAGGTGAGGCGGACA	0.637000													8	28					0	0	1	0	0
TRGV2	6974	broad.mit.edu	37	7	38402961	38402961	+	RNA	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:38402961G>A	ENST00000426402.2	-	0	158																											GAAGGAAAGGGACCAGATGAA	0.537000													9	17					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862996	10862996	+	RNA	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:10862996G>A	ENST00000559480.1	+	0	292																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						CATGAGCACAGCCTACATGGA	0.493000													55	267					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24253233	24253233	+	Splice_Site	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:24253233G>A	ENST00000538205.1	+	6	674	c.126_splice	c.e6-1	p.E43_splice	RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Splice_Site_p.E122_splice|ADAMDEC1_ENST00000522298.1_Splice_Site_p.E43_splice|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	122					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.E122K(1)		NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TCCACTCCAGGAACACTGTTA	0.358000													11	18					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225563	21225563	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:21225563G>A	ENST00000233242.1	-	29	12858	c.12731C>T	c.(12730-12732)tCc>tTc	p.S4244F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4244					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGGAAATAGGAAAACAGTAT	0.378000													25	39					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13423526	13423526	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:13423526G>A	ENST00000360228.5	-	12	1624	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T543M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	543					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T543M(3)|p.T542M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTAAGGCCGCGTCCCAAGCCC	0.438000													12	32					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40836130	40836130	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:40836130C>G	ENST00000264638.4	+	3	463	c.246C>G	c.(244-246)atC>atG	p.I82M	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	82	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		AGCACCGGATCCGGGCCGTGG	0.547000													52	41					0	0	1	0	0
SNAP25	6616	broad.mit.edu	37	20	10273826	10273826	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:10273826G>A	ENST00000254976.2	+	5	392	c.181G>A	c.(181-183)Gag>Aag	p.E61K	SNAP25-AS1_ENST00000453544.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000304886.2_Intron	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	61	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GGAACGCATTGAGGAAGGGAT	0.393000													23	45					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108603920	108603920	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:108603920G>A	ENST00000332082.4	+	5	1338	c.520G>A	c.(520-522)Gag>Aag	p.E174K	WSCD2_ENST00000549903.1_Missense_Mutation_p.E174K|WSCD2_ENST00000547525.1_Missense_Mutation_p.E174K|WSCD2_ENST00000261400.3_Missense_Mutation_p.E174K			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	174	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGGCGGGCTGGAGTTCGGCGC	0.647000													23	32					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122004029	122004029	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:122004029G>A	ENST00000498619.1	+	7	3696	c.3258G>A	c.(3256-3258)gtG>gtA	p.V1086V	CASR_ENST00000296154.5_Silent_p.V1076V|CASR_ENST00000490131.1_Silent_p.V1076V	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	1076					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AAAACGTAGTGAATTCATAAA	0.512000													23	35					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79393421	79393421	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:79393421C>T	ENST00000264895.6	+	52	7899	c.7459C>T	c.(7459-7461)Cct>Tct	p.P2487S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2486					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						AACGACGGGCCCTAAGCATGG	0.537000													7	11					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78163600	78163600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:78163600C>T	ENST00000573882.1	+	8	1428	c.892C>T	c.(892-894)Cga>Tga	p.R298*	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Nonsense_Mutation_p.R298*|CARD14_ENST00000344227.2_Nonsense_Mutation_p.R298*|CARD14_ENST00000392434.2_Nonsense_Mutation_p.R61*			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	298					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)			GCGGGGGAGCCGACAGGAGCT	0.697000													13	29					0	0	1	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184302	26184302	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:26184302G>A	ENST00000356530.3	+	1	345	c.279G>A	c.(277-279)agG>agA	p.R93R		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	93					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						TCACCTCCAGGGAGATCCAGA	0.612000													35	72					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47460867	47460867	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:47460867G>A	ENST00000265565.5	-	13	2303	c.1891C>T	c.(1891-1893)Cgc>Tgc	p.R631C	SCAP_ENST00000441517.2_Missense_Mutation_p.R376C|SCAP_ENST00000545718.1_Missense_Mutation_p.R239C	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	631					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGCCAGTGGCGGAAGGACAAT	0.582000													3	47					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12315147	12315147	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:12315147G>A	ENST00000261349.4	-	10	2335	c.2259C>T	c.(2257-2259)ctC>ctT	p.L753L	LRP6_ENST00000543091.1_Silent_p.L753L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	753	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTCCAACGCGAGAGCTCTGG	0.478000													39	47					0	0	1	0	0
FBXO43	286151	broad.mit.edu	37	8	101152946	101152946	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:101152946C>T	ENST00000428847.2	-	2	1852	c.1536G>A	c.(1534-1536)atG>atA	p.M512I		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	512	F-box.				meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACTCTAAAACCATAGCAAGAA	0.328000													26	28					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38519889	38519889	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:38519889C>T	ENST00000352511.3	+	5	1018	c.546C>T	c.(544-546)tcC>tcT	p.S182S		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	182					activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		CACCACCATCCCCTCTGGTGG	0.617000													12	20					0	0	1	0	0
ANKRD2	26287	broad.mit.edu	37	10	99340640	99340640	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:99340640C>T	ENST00000307518.5	+	5	833	c.566C>T	c.(565-567)tCc>tTc	p.S189F	ANKRD2_ENST00000298808.5_Missense_Mutation_p.S189F|ANKRD2_ENST00000455090.1_Missense_Mutation_p.S162F|ANKRD2_ENST00000370655.1_Missense_Mutation_p.S162F			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	189					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CACCGAGCTTCCCTGGAAGGC	0.602000													3	2					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27695224	27695224	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:27695224G>A	ENST00000260570.3	-	15	1520	c.1417C>T	c.(1417-1419)Ctg>Ttg	p.L473L	IFT172_ENST00000416524.2_Silent_p.L452L|IFT172_ENST00000359466.6_Silent_p.L473L	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	473					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCACCAATCAGATCCACTATA	0.463000													28	28					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7503379	7503379	+	Silent	SNP	C	C	T	rs150784421	by1000genomes	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:7503379C>T	ENST00000486284.1	+	7	1759	c.1485C>T	c.(1483-1485)atC>atT	p.I495I	GRM7_ENST00000402647.2_Silent_p.I495I|GRM7_ENST00000357716.4_Silent_p.I495I|GRM7_ENST00000403881.1_Silent_p.I495I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.I495I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	495			I -> V (in dbSNP:rs7634846).		negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ACCGTCTGATCGGGCAGTGGA	0.468000													25	46					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43814680	43814680	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:43814680C>T	ENST00000382031.1	+	5	1754	c.1723C>T	c.(1723-1725)Cgg>Tgg	p.R575W	MAP1A_ENST00000399453.1_Missense_Mutation_p.R337W|MAP1A_ENST00000300231.5_Missense_Mutation_p.R337W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	337						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.R337W(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTTGGCCAAACGGGAGGAGGT	0.547000													6	10					0	0	1	0	0
AIP	9049	broad.mit.edu	37	11	67256877	67256877	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:67256877C>T	ENST00000279146.3	+	3	537	c.419C>T	c.(418-420)gCc>gTc	p.A140V	AIP_ENST00000525341.1_3'UTR	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	140					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						GACCTGGACGCCCTGCAGCAG	0.667000									Familial Isolated Pituitary Adenoma				34	12					0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103949903	103949903	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:103949903C>T	ENST00000394785.3	-	11	2024		c.e11+1		SLC9B2_ENST00000503230.1_Splice_Site|SLC9B2_ENST00000362026.3_Splice_Site|SLC9B2_ENST00000339611.4_Intron|SLC9B2_ENST00000503103.1_Intron	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2						sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										ATCCATCATACCTGAACTGTG	0.323000													11	25					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34383841	34383841	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:34383841G>A	ENST00000373381.4	-	5	950	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	218	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACTCCGAGGGGAAGTGGGGGC	0.582000													10	20					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43319386	43319386	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:43319386G>A	ENST00000380486.3	-	13	1887	c.1646C>T	c.(1645-1647)tCc>tTc	p.S549F	C2CD2_ENST00000329623.7_Missense_Mutation_p.S394F	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	549						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CTCCGGATGGGATGGGGCGTC	0.672000													14	23					0	0	1	0	0
ACTR5	79913	broad.mit.edu	37	20	37380858	37380858	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:37380858C>T	ENST00000243903.4	+	3	727	c.690C>T	c.(688-690)taC>taT	p.Y230Y		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	230					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				AGCTGAAGTACCCTGGGCACC	0.517000													10	22					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35793992	35793992	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:35793992G>A	ENST00000342694.2	+	2	1020	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	255					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTTTTACCTGGATGTCTTTG	0.587000													24	18					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77542409	77542409	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:77542409C>T	ENST00000461745.1	+	5	1582	c.682C>T	c.(682-684)Ctc>Ttc	p.L228F	ROBO2_ENST00000332191.8_Missense_Mutation_p.L228F|ROBO2_ENST00000487694.3_Missense_Mutation_p.L244F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	228	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACCCACATTTCTCAGGAGGCC	0.378000													22	38					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135042377	135042377	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:135042377G>A	ENST00000393229.3	+	2	935	c.159G>A	c.(157-159)aaG>aaA	p.K53K	NTNG2_ENST00000372179.3_Silent_p.K53K|NTNG2_ENST00000393228.4_Silent_p.K53K|NTNG2_ENST00000360670.3_Silent_p.K53K	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	53	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TCAAGGTGAAGGTGGAGCCCT	0.577000													17	32					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867051	6867051	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:6867051C>T	ENST00000299454.4	+	1	169	c.138C>T	c.(136-138)atC>atT	p.I46I	OR10A5_ENST00000379831.2_Silent_p.I50I			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGCCTCATCATTCTGGTTA	0.443000													63	93					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188211	152188211	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:152188211C>T	ENST00000368801.2	-	3	5969	c.5894G>A	c.(5893-5895)gGc>gAc	p.G1965D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1965					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCATATGGGCCGTAGCTGGA	0.612000													134	1056					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760569	92760569	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:92760569G>A	ENST00000318238.4	-	5	5932	c.4716C>T	c.(4714-4716)tcC>tcT	p.S1572S	SAMD9L_ENST00000437805.1_Silent_p.S1572S|SAMD9L_ENST00000411955.1_Silent_p.S1572S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1572										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCCTTCAATGGAAAATCCTA	0.323000													12	17					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166223779	166223779	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:166223779G>A	ENST00000357398.3	+	19	3863	c.3573G>A	c.(3571-3573)ggG>ggA	p.G1191G	SCN2A_ENST00000375437.2_Silent_p.G1191G|SCN2A_ENST00000283256.6_Silent_p.G1191G|SCN2A_ENST00000375427.2_Silent_p.G1191G			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1191					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAGGCAAAGGGAAACTCTGGT	0.383000													9	36					0	0	1	0	0
MPRIP	23164	broad.mit.edu	37	17	17053473	17053473	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:17053473G>A	ENST00000395811.5	+	12	1380	c.1291G>A	c.(1291-1293)Gga>Aga	p.G431R	MPRIP_ENST00000444976.1_Missense_Mutation_p.G393R|MPRIP_ENST00000395804.3_Missense_Mutation_p.G431R|MPRIP_ENST00000341712.4_Missense_Mutation_p.G431R	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	431	PH 2.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CGACTTGGATGGAGAAATTGA	0.463000													55	31					0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311607	6311607	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:6311607C>T	ENST00000400104.3	-	3	218	c.18G>A	c.(16-18)agG>agA	p.R6R	L3MBTL4_ENST00000284898.6_Silent_p.R6R|L3MBTL4_ENST00000317931.7_Silent_p.R6R|L3MBTL4_ENST00000400105.2_Silent_p.R6R			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	6					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCTTCCTTTTCCTGTTGGGCT	0.507000													72	118					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17706476	17706476	+	RNA	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:17706476G>A	ENST00000434762.2	+	0	479							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTGACAAACAGGCTAAGGTGA	0.527000													21	9					0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114695129	114695129	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:114695129A>G	ENST00000374279.3	+	9	1487	c.1037A>G	c.(1036-1038)aAa>aGa	p.K346R		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	346					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGTTTTTCAAAACTTGATTAT	0.363000													32	61					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784108	151784108	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:151784108G>A	ENST00000255262.3	-	1	732	c.567C>T	c.(565-567)ttC>ttT	p.F189F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	189					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGAAGTAGTGGAACTTGATGC	0.597000													27	22					0	0	1	0	0
WDR74	54663	broad.mit.edu	37	11	62602941	62602941	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:62602941C>T	ENST00000525239.1	-	7	1117	c.580G>A	c.(580-582)Gga>Aga	p.G194R	WDR74_ENST00000311713.7_Missense_Mutation_p.G194R|WDR74_ENST00000525752.1_Missense_Mutation_p.G137R|WDR74_ENST00000278856.4_Missense_Mutation_p.G194R|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000529106.1_Missense_Mutation_p.G194R			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	194						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TTCTGTGATCCTGGGAGAAAC	0.587000													14	7					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179489212	179489212	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179489212G>A	ENST00000589042.1	-	242	45019	c.44795C>T	c.(44794-44796)tCc>tTc	p.S14932F	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S12364F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S13291F|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S5867F|TTN_ENST00000342175.6_Missense_Mutation_p.S6059F|TTN_ENST00000359218.5_Missense_Mutation_p.S5992F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13291	Fibronectin type-III 8.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTTACAGGAAGTCTTAAA	0.353000													27	32					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000356142.4_Missense_Mutation_p.P29S|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													14	35					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158064458	158064458	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:158064458G>T	ENST00000368172.1	+	11	1276	c.1264G>T	c.(1264-1266)Gtg>Ttg	p.V422L	KIRREL_ENST00000368173.3_Missense_Mutation_p.V624L|KIRREL_ENST00000392272.2_Missense_Mutation_p.V505L|KIRREL_ENST00000360089.4_Missense_Mutation_p.V444L|KIRREL_ENST00000359209.6_Missense_Mutation_p.V608L|KIRREL_ENST00000416935.2_Missense_Mutation_p.V508L			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	608	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CTACTACAACGTGCGTGCCCA	0.622000													51	13					1.39843e-22	1.433e-22	1	1	0
IL1RN	3557	broad.mit.edu	37	2	113885249	113885249	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:113885249C>T	ENST00000409930.3	+	1	112	c.48C>T	c.(46-48)ctC>ctT	p.L16L	IL1RN_ENST00000409052.1_Intron|IL1RN_ENST00000361779.3_Intron|IL1RN_ENST00000259206.5_Intron|IL1RN_ENST00000354115.2_Intron	NM_173842.2	NP_776214.1	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist	16					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	CTCTCCTCCTCTTCCTGTTCC	0.552000									Lichen Sclerosis et Atrophicus, Familial Clustering of				20	17					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130485459	130485459	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:130485459C>T	ENST00000373289.3	+	7	799	c.719C>T	c.(718-720)gCc>gTc	p.A240V	TTC16_ENST00000393748.4_Missense_Mutation_p.A64V|PTRH1_ENST00000429848.1_Intron|TTC16_ENST00000489226.1_3'UTR|PTRH1_ENST00000419060.1_Intron	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	240							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CACCCGCAGGCCAGGATGCTG	0.667000													23	29					0	0	1	0	0
MPP3	4356	broad.mit.edu	37	17	41903159	41903159	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:41903159G>A	ENST00000398393.1	-	7	909	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	MPP3_ENST00000398389.4_Silent_p.L192L			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	192					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CGCTTGTGCAGGACTGCGATC	0.597000													15	19					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38936095	38936095	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:38936095C>T	ENST00000450244.1	-	15	2962	c.2764G>A	c.(2764-2766)Gag>Aag	p.E922K	SCN11A_ENST00000444237.2_Missense_Mutation_p.E922K|SCN11A_ENST00000456224.3_Missense_Mutation_p.E922K|SCN11A_ENST00000302328.3_Missense_Mutation_p.E922K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	922					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCATCTTCCTCCTCCGCAAGT	0.498000													45	73					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483659	19483659	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:19483659T>C	ENST00000507958.1	-	14	2623	c.1633A>G	c.(1633-1635)Aac>Gac	p.N545D	CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.N545D|CDH18_ENST00000274170.4_Missense_Mutation_p.N545D|CDH18_ENST00000502796.1_Intron			Q13634	CAD18_HUMAN	cadherin 18, type 2	545	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGGCTGTGTTATCTATGATA	0.398000													13	1					0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895003	17895003	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:17895003C>T	ENST00000594202.1	+	25	2464	c.2185C>T	c.(2185-2187)Ccc>Tcc	p.P729S	FCHO1_ENST00000539407.1_Missense_Mutation_p.P729S|FCHO1_ENST00000597512.1_Missense_Mutation_p.P736S|FCHO1_ENST00000595033.1_Missense_Mutation_p.P679S|FCHO1_ENST00000252771.7_Missense_Mutation_p.P729S|FCHO1_ENST00000600676.1_Missense_Mutation_p.P729S|FCHO1_ENST00000596951.1_Missense_Mutation_p.P729S|FCHO1_ENST00000596536.1_Missense_Mutation_p.P729S|FCHO1_ENST00000389133.4_Missense_Mutation_p.P729S	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	729										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						AGAGCAGAACCCCACTGCCTC	0.647000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	6					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21513888	21513888	+	Missense_Mutation	SNP	C	C	T	rs61752346	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr18:21513888C>T	ENST00000313654.9	+	67	9092	c.8851C>T	c.(8851-8853)Cgt>Tgt	p.R2951C	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.R1286C|LAMA3_ENST00000399516.3_Missense_Mutation_p.R2895C|LAMA3_ENST00000269217.6_Missense_Mutation_p.R1342C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2951					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAGACTTTTCGTATCAACCA	0.483000													30	38					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101597712	101597712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:101597712G>A	ENST00000310954.6	-	5	1211	c.925C>T	c.(925-927)Cga>Tga	p.R309*		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	309					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCCAACCATCGCGGATCATCC	0.358000													15	6					0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429471	48429471	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:48429471G>A	ENST00000224605.2	-	2	680	c.415C>T	c.(415-417)Ccg>Tcg	p.P139S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	139					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CACCGAGGCGGCTCTGAGTAG	0.617000													16	27					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789652	130789652	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:130789652G>A	ENST00000276708.4	-	2	1063	c.182C>T	c.(181-183)tCc>tTc	p.S61F		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	61						mitochondrion		p.S61F(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTCATTGAGGGAGAATTCAAC	0.428000													16	23					0	0	1	0	0
C8orf58	541565	broad.mit.edu	37	8	22458639	22458639	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:22458639C>T	ENST00000409586.3	+	2	405	c.285C>T	c.(283-285)tcC>tcT	p.S95S	C8orf58_ENST00000289989.5_Silent_p.S95S|C8orf58_ENST00000453427.2_3'UTR	NM_001013842.2|NM_001198827.1|NM_173686.2	NP_001013864.1|NP_001185756.1|NP_775957.2	Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	95										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		ACTTTGAATCCTCAGGGAGTT	0.662000													9	9					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454977	84454977	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:84454977G>A	ENST00000377084.2	-	1	1551	c.666C>T	c.(664-666)tcC>tcT	p.S222S		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	222	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATTCTTTCAGGGAGAGCAGAT	0.532000													29	29					0	0	1	0	0
NTPCR	84284	broad.mit.edu	37	1	233091382	233091382	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:233091382C>T	ENST00000366627.4	+	2	185	c.114C>T	c.(112-114)acC>acT	p.T38T	NTPCR_ENST00000366628.4_Silent_p.T38T			Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	38							ATP binding|nucleoside-triphosphatase activity|nucleotide phosphatase activity|transferase activity			large_intestine(2)|lung(1)|ovary(1)	4						GATTTTATACCGAAGAAGTCA	0.408000													22	1					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50051941	50051941	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:50051941G>A	ENST00000376042.1	+	6	1070	c.772G>A	c.(772-774)Gag>Aag	p.E258K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E258K			Q8WWL7	CCNB3_HUMAN	cyclin B3	258					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAATATGGAAGAGGATTCCTT	0.418000													12	5					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691442	49691442	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:49691442C>T	ENST00000296452.4	+	5	4567	c.4453C>T	c.(4453-4455)Ccc>Tcc	p.P1485S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1485					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCGTCTTCCCCCTCAGAGAG	0.612000													31	48					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20940083	20940083	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:20940083C>T	ENST00000263205.7	+	17	2269	c.2200C>T	c.(2200-2202)Ccg>Tcg	p.P734S	MED15_ENST00000382974.2_Missense_Mutation_p.P623S|MED15_ENST00000292733.7_Missense_Mutation_p.P694S|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000425759.2_Missense_Mutation_p.P583S|MED15_ENST00000541476.1_Missense_Mutation_p.P668S|MED15_ENST00000406969.1_Missense_Mutation_p.P668S	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	734					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TGCCCAAAGCCCGCTGTGGAT	0.592000													15	25					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	41015864	41015864	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:41015864G>A	ENST00000295974.8	-	6	1200	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	APBB2_ENST00000513140.1_Nonsense_Mutation_p.Q191*|APBB2_ENST00000508593.1_Nonsense_Mutation_p.Q191*|APBB2_ENST00000506352.1_Nonsense_Mutation_p.Q191*	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	191					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TGGACTGGCTGGGATTTCTCT	0.532000													76	123					0	0	1	0	0
IGHV3-43	28426	broad.mit.edu	37	14	106926373	106926373	+	RNA	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:106926373G>A	ENST00000434710.1	-	0	248																											GGAGCTTGACGGACCCAGTGC	0.557000													44	64					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41148137	41148137	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:41148137C>T	ENST00000344051.4	+	9	1447	c.1213C>T	c.(1213-1215)Ccg>Tcg	p.P405S	SPINT1_ENST00000562057.1_Missense_Mutation_p.P389S|SPINT1_ENST00000431806.1_Missense_Mutation_p.P389S			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	405	BPTI/Kunitz inhibitor 2.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAGAGCATCCCGCGCTGGTA	0.592000													44	57					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31748868	31748868	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:31748868G>A	ENST00000375663.3	-	22	3017	c.2577C>T	c.(2575-2577)caC>caT	p.H859H	VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	859					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCTTCCGGCCGTGAGCATCTC	0.617000													16	20					0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485525	52485525	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:52485525G>A	ENST00000232975.3	-	5	390	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	112	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CATCCAGGTCGATGTAGCCAT	0.602000													21	39					0	0	1	0	0
PITPNA	5306	broad.mit.edu	37	17	1451683	1451683	+	Splice_Site	SNP	T	T	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:1451683T>A	ENST00000313486.7	-	4	453		c.e4-2		PITPNA_ENST00000539476.1_Splice_Site	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha						axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		GGTACTTTGCTATAGCGGGGA	0.488000													18	10					0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3687883	3687883	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:3687883C>T	ENST00000403096.3	+	4	703	c.212C>T	c.(211-213)tCc>tTc	p.S71F	COLEC11_ENST00000382062.2_Missense_Mutation_p.S73F|COLEC11_ENST00000349077.4_Missense_Mutation_p.S97F|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.S111F|COLEC11_ENST00000404205.1_Missense_Mutation_p.S23F|COLEC11_ENST00000236693.7_Missense_Mutation_p.S94F|COLEC11_ENST00000402794.1_Missense_Mutation_p.S47F|COLEC11_ENST00000402922.1_Missense_Mutation_p.S47F	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	97	Collagen-like.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		AAAGGAGATTCCGGTGACATA	0.378000													10	22					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8492909	8492909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:8492909C>T	ENST00000381196.4	-	24	2963	c.2420G>A	c.(2419-2421)gGa>gAa	p.G807E	PTPRD_ENST00000540109.1_Missense_Mutation_p.G807E|PTPRD_ENST00000360074.4_Missense_Mutation_p.G794E|PTPRD_ENST00000358503.5_Missense_Mutation_p.G785E|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.G807E|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	807	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCACCATCTCCTTTGGTTGT	0.458000										TSP Lung(15;0.13)			26	13					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37533707	37533707	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:37533707C>T	ENST00000216223.5	-	6	655	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	153	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGGGAGATTTCCCAGCTTATG	0.597000													24	30					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41076933	41076933	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:41076933C>T	ENST00000373198.3	-	9	1722	c.1487G>A	c.(1486-1488)gGg>gAg	p.G496E	PTPRT_ENST00000373187.1_Missense_Mutation_p.G496E|PTPRT_ENST00000373193.3_Missense_Mutation_p.G496E|PTPRT_ENST00000373201.1_Missense_Mutation_p.G496E|PTPRT_ENST00000356100.2_Missense_Mutation_p.G496E|PTPRT_ENST00000373184.1_Missense_Mutation_p.G496E|PTPRT_ENST00000373190.1_Missense_Mutation_p.G496E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	496	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCAAAGGGCCCCCCTTGGAT	0.507000													47	58					0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76827314	76827314	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:76827314G>A	ENST00000278559.3	+	7	1125	c.936G>A	c.(934-936)aaG>aaA	p.K312K	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Silent_p.K312K|CAPN5_ENST00000456580.2_Silent_p.K352K	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	312	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						AGCGGGAGAAGATGGGTGTGA	0.652000													3	1					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52031437	52031437	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:52031437G>A	ENST00000346477.3	-	5	1103	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	SIGLEC6_ENST00000425629.3_Silent_p.F361F|SIGLEC6_ENST00000436458.1_Silent_p.F309F|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000391797.3_Intron|SIGLEC6_ENST00000359982.4_Silent_p.F372F|SIGLEC6_ENST00000343300.4_Intron	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	361					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AAACACAGAGGAAAACCAGGG	0.507000													24	7					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21747413	21747413	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:21747413G>A	ENST00000328843.6	+	41	6695	c.6664G>A	c.(6664-6666)Ggt>Agt	p.G2222S	DNAH11_ENST00000409508.3_Missense_Mutation_p.G2215S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2222	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAACTCTTTGGTTTCATACA	0.378000									Kartagener syndrome				6	13					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288700	125288700	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:125288700C>T	ENST00000304880.2	-	1	872	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTCCTTGTTCCTTAGGCTAT	0.463000													11	19					0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36545094	36545094	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:36545094C>T	ENST00000397293.2	-	2	357	c.10_splice	c.e2+1	p.E4_splice	APOL3_ENST00000397287.2_Intron|APOL3_ENST00000487423.1_Intron|APOL3_ENST00000424878.2_Intron|APOL3_ENST00000361710.2_Intron|APOL3_ENST00000349314.2_Intron			O95236	APOL3_HUMAN	apolipoprotein L, 3	75					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						GCAAGCCTACCTGAGTCCATG	0.547000													19	37					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25423900	25423900	+	RNA	SNP	A	A	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:25423900A>C	ENST00000441592.2	+	0	399				SNORD115-5_ENST00000363633.1_RNA																							GATGATGAGAACCTTATATTG	0.532000													74	149					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125772784	125772784	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:125772784C>T	ENST00000373647.4	+	11	1660	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	509					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATACCTTCTCCTCCAGAAGAT	0.438000													14	28					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79256034	79256034	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:79256034G>A	ENST00000374759.3	-	5	839	c.456C>T	c.(454-456)tcC>tcT	p.S152S	SLC38A10_ENST00000288439.5_Silent_p.S152S	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	152					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGCGCTGAAGGACTGGATGG	0.627000													24	43					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1395287	1395287	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:1395287C>T	ENST00000324385.5	+	22	2241	c.2083C>T	c.(2083-2085)Ccc>Tcc	p.P695S	BAIAP3_ENST00000562208.1_Missense_Mutation_p.P637S|BAIAP3_ENST00000397489.1_Missense_Mutation_p.P677S|BAIAP3_ENST00000397488.2_Missense_Mutation_p.P677S|BAIAP3_ENST00000421665.2_Missense_Mutation_p.P624S|BAIAP3_ENST00000568887.1_Missense_Mutation_p.P632S|BAIAP3_ENST00000426824.3_Missense_Mutation_p.P660S	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	695	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)				CATCCACGCCCCCTTCCTGCC	0.642000													38	32					0	0	1	0	0
C3orf56	285311	broad.mit.edu	37	3	126916150	126916150	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:126916150C>T	ENST00000398112.1	+	2	862	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C		NM_001007534.2	NP_001007535.1			chromosome 3 open reading frame 56											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		TTCAGAGCTCCGCCCTCTGCC	0.637000													11	17					0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650906	90650906	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:90650906C>T	ENST00000282146.4	+	2	1227	c.786C>T	c.(784-786)ttC>ttT	p.F262F		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	262						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGCCAACTTCGTCTTCATCC	0.493000													29	6					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143913059	143913059	+	Translation_Start_Site	SNP	T	T	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:143913059T>A	ENST00000409869.1	+	0	177				ARHGAP15_ENST00000295095.6_De_novo_Start_InFrame			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15						regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AGCACTATAATATGCAGAAAT	0.358000													5	10					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205130	61205130	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:61205130C>T	ENST00000301761.2	+	2	144	c.70C>T	c.(70-72)Cct>Tct	p.P24S	SDHAF2_ENST00000537782.1_Missense_Mutation_p.P24S|RP11-286N22.8_ENST00000544880.1_3'UTR|SDHAF2_ENST00000543265.1_Missense_Mutation_p.P24S|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.P12S|SDHAF2_ENST00000534878.1_Missense_Mutation_p.P24S|SDHAF2_ENST00000542074.1_Intron	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	24					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CCTATTGTCTCCTTTGCTCAG	0.433000													31	22					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902182	247902182	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:247902182C>T	ENST00000283225.2	+	1	266	c.266C>T	c.(265-267)tCc>tTc	p.S89F	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						TCCACTGACTCCATCTCCTTC	0.507000													48	18					0	0	1	0	0
IFT27	11020	broad.mit.edu	37	22	37154424	37154424	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:37154424G>T	ENST00000340630.5	-	7	934	c.489C>A	c.(487-489)ttC>ttA	p.F163L	IFT27_ENST00000433985.2_Missense_Mutation_p.F164L|IFT27_ENST00000453009.2_Missense_Mutation_p.F123L	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	164					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CAAGGCAGTGGAAAGGGGCTT	0.532000											OREG0026524	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	29					1.33834e-09	1.35837e-09	1	1	0
APOB	338	broad.mit.edu	37	2	21237341	21237341	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:21237341G>A	ENST00000233242.1	-	24	3948	c.3821C>T	c.(3820-3822)cCa>cTa	p.P1274L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1274					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGGTTTTCTGGGATGTGGAA	0.408000													15	25					0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118165806	118165806	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:118165806C>T	ENST00000369448.3	+	2	563	c.316C>T	c.(316-318)Cag>Tag	p.Q106*		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	106										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGCAGAATTTCAGCTGGTTAG	0.502000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)			25	14					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73677048	73677048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:73677048C>T	ENST00000264448.6	+	8	3502	c.3391C>T	c.(3391-3393)Cag>Tag	p.Q1131*	ALMS1_ENST00000377715.1_Nonsense_Mutation_p.Q1131*|ALMS1_ENST00000409009.1_Nonsense_Mutation_p.Q1089*	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1131	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTAGCAGACCAGAAGACTGG	0.473000													55	87					0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111935495	111935495	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:111935495C>T	ENST00000375741.2	+	17	2048	c.1798C>T	c.(1798-1800)Cac>Tac	p.H600Y	ARHGEF7_ENST00000218789.5_Missense_Mutation_p.H422Y|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.H497Y|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.H579Y|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.H422Y|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.H422Y|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.H507Y|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.H550Y|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.H344Y|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.H422Y	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	600					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTCCCCTCCCACCCGGTCAC	0.667000													4	3					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6424892	6424892	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:6424892G>A	ENST00000389906.2	-	3	981	c.882C>T	c.(880-882)ccC>ccT	p.P294P	APBB1_ENST00000311051.3_Silent_p.P294P|APBB1_ENST00000299402.6_Silent_p.P294P|APBB1_ENST00000533407.1_Silent_p.P35P|APBB1_ENST00000530885.1_Silent_p.P74P	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	294					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACTCCTCTTGGGGGCTGCTCC	0.632000													28	37					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10188710	10188710	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:10188710G>A	ENST00000380833.4	+	12	2376	c.1985G>A	c.(1984-1986)aGa>aAa	p.R662K	CLCN4_ENST00000380829.1_Missense_Mutation_p.R631K|CLCN4_ENST00000421085.2_Missense_Mutation_p.R568K	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	662	CBS 1.					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGAACGCCAGACAGAGGCAG	0.572000													39	10					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139911699	139911699	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:139911699G>A	ENST00000265662.5	-	18	2649	c.2502C>T	c.(2500-2502)atC>atT	p.I834I	ABCA2_ENST00000341511.6_Silent_p.I834I|ABCA2_ENST00000371605.3_Silent_p.I833I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	833					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCCTCTCGGATCGCCACGT	0.647000													26	30					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34080639	34080639	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:34080639C>T	ENST00000389232.4	+	67	9880	c.9810C>T	c.(9808-9810)atC>atT	p.I3270I	RYR3_ENST00000415757.3_Silent_p.I3270I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3270					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGCTGATCCGCTACGTGG	0.547000													17	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430961	179430961	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179430961A>C	ENST00000589042.1	-	326	80122	c.79898T>G	c.(79897-79899)tTc>tGc	p.F26633C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F24065C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F24992C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F17568C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F17760C|TTN_ENST00000359218.5_Missense_Mutation_p.F17693C|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24992	Fibronectin type-III 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTATCTGTGAATTCACCTTC	0.393000													38	55					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	39087408	39087408	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr21:39087408C>T	ENST00000400482.3	-	3	641	c.52G>A	c.(52-54)Gat>Aat	p.D18N	KCNJ6_ENST00000288309.6_Missense_Mutation_p.D18N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	18					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	ACGTCCTGATCCATGGAGTCG	0.527000													16	22					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141217	143141217	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:143141217G>A	ENST00000332690.1	+	1	672	c.672G>A	c.(670-672)agG>agA	p.R224R	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	224					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GAAGACACAGGAAGAAGGCTC	0.458000													26	53					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72961876	72961876	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:72961876G>A	ENST00000553530.1	+	13	1078	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	RGS6_ENST00000355512.6_Missense_Mutation_p.E291K|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000553525.1_Missense_Mutation_p.E291K|RGS6_ENST00000404301.2_Missense_Mutation_p.E291K|RGS6_ENST00000406236.4_Missense_Mutation_p.E291K|RGS6_ENST00000555571.1_Missense_Mutation_p.E291K|RGS6_ENST00000556437.1_Missense_Mutation_p.E291K|RGS6_ENST00000434263.2_Missense_Mutation_p.E222K|RGS6_ENST00000554782.1_Missense_Mutation_p.E152K|RGS6_ENST00000407322.4_Missense_Mutation_p.E291K|RGS6_ENST00000402788.2_Missense_Mutation_p.E291K	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	291	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGCCTACACGGAACAATATGT	0.428000													25	13					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956562	42956562	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:42956562G>A	ENST00000541208.1	+	5	1366	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	ZNF662_ENST00000328199.6_Missense_Mutation_p.E359K|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.E333K|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GAAGCCTTACGAATGTAAGGA	0.493000													10	22					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094815	143094815	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:143094815G>A	ENST00000367603.2	-	5	1803	c.1061C>T	c.(1060-1062)tCt>tTt	p.S354F	HIVEP2_ENST00000367604.1_Missense_Mutation_p.S354F|HIVEP2_ENST00000012134.2_Missense_Mutation_p.S354F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AGTATTTAAAGATGGATTTGG	0.418000													53	31					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109937506	109937506	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:109937506T>A	ENST00000342494.3	+	12	1604	c.1009T>A	c.(1009-1011)Ttg>Atg	p.L337M	UBE3B_ENST00000434735.2_Missense_Mutation_p.L337M|UBE3B_ENST00000280774.5_Missense_Mutation_p.L337M	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	337					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GTTCGTGAGTTTGCTCACCCA	0.552000													9	11					0	0	1	0	0
IGLV3-12	28802	broad.mit.edu	37	22	23114864	23114864	+	RNA	SNP	A	A	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:23114864A>T	ENST00000390313.2	+	0	145																											GGGAAACAACATTGGAAGTAA	0.562000													13	20					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94128992	94128992	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:94128992C>T	ENST00000553484.1	+	42	6905	c.6751C>T	c.(6751-6753)Cag>Tag	p.Q2251*	UNC79_ENST00000256339.4_Nonsense_Mutation_p.Q2052*|UNC79_ENST00000555664.1_Nonsense_Mutation_p.Q2190*|UNC79_ENST00000393151.2_Nonsense_Mutation_p.Q2229*			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2229						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTTTGTAATTCAGAATGCCGT	0.418000													10	3					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102902	22102902	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:22102902G>A	ENST00000542433.1	-	1	194	c.97C>T	c.(97-99)Ctg>Ttg	p.L33L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AAGAAGACCAGGAAGAGGAGG	0.507000													22	11					0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	994111	994111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:994111G>T	ENST00000448903.2	+	14	1963	c.1822G>T	c.(1822-1824)Gag>Tag	p.E608*	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000332231.5_Nonsense_Mutation_p.E609*	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	608					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCGGAGCGGGAGTCCTCCAT	0.627000													24	46					4.7796e-09	4.84454e-09	1	1	0
KRT72	140807	broad.mit.edu	37	12	52981550	52981550	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:52981550A>C	ENST00000293745.2	-	7	1260	c.1175T>G	c.(1174-1176)cTg>cGg	p.L392R	KRT72_ENST00000398066.3_Missense_Mutation_p.L204R|KRT72_ENST00000537672.2_Missense_Mutation_p.L392R|KRT72_ENST00000354310.4_Missense_Mutation_p.L350R	NM_080747.2	NP_542785.1	Q14CN4	K2C72_HUMAN	keratin 72	392	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GGCGCCCTCCAGCTCATCCAG	0.657000													23	46					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109629475	109629475	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:109629475G>A	ENST00000338432.7	+	14	2321	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	ACACB_ENST00000377848.3_Silent_p.V734V|ACACB_ENST00000377854.5_Silent_p.V734V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	734	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGACTACCGTGGAATACCTCA	0.498000													11	47					0	0	1	0	0
OR11H1	81061	broad.mit.edu	37	22	16449110	16449110	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:16449110G>A	ENST00000252835.4	-	1	695	c.695C>T	c.(694-696)tCc>tTc	p.S232F		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AAGAGTATAGGATCCAATAAT	0.423000													30	72					0	0	1	0	0
FAM189B	10712	broad.mit.edu	37	1	155217952	155217952	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:155217952G>A	ENST00000361361.2	-	11	2231	c.1722C>T	c.(1720-1722)tcC>tcT	p.S574S	FAM189B_ENST00000350210.2_Silent_p.S478S|FAM189B_ENST00000368368.3_Silent_p.S556S	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	574						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTCCCCCAGGGAGTGGGCAG	0.647000													17	6					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21092985	21092985	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:21092985C>T	ENST00000261383.3	-	20	2940	c.2941G>A	c.(2941-2943)Gaa>Aaa	p.E981K	DNAH3_ENST00000415178.1_Missense_Mutation_p.E981K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	981	Stem (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)		AATCCAAATTCGAGCATATTT	0.428000													88	90					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215812267	215812267	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:215812267A>T	ENST00000272895.7	-	48	7337	c.7118T>A	c.(7117-7119)cTc>cAc	p.L2373H	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.L2055H	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2373	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTCCTAAGGAGTTTATGAAC	0.423000													15	13					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171240255	171240255	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:171240255C>T	ENST00000334231.6	+	12	1248	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	MYO3B_ENST00000409044.3_Silent_p.S407S|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Silent_p.S407S			Q8WXR4	MYO3B_HUMAN	myosin IIIB	407	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AACGCGCCTCCAATCCCCCCC	0.468000													20	31					0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135053636	135053636	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:135053636C>T	ENST00000325980.9	+	3	1114	c.603C>T	c.(601-603)tcC>tcT	p.S201S		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	201					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCCCTGGCTCCTTCTGGGGTC	0.677000													14	6					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28378660	28378660	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:28378660C>T	ENST00000337532.5	-	13	1339	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	MPP7_ENST00000445954.2_Missense_Mutation_p.E230K|MPP7_ENST00000375719.3_Missense_Mutation_p.E355K|MPP7_ENST00000540098.1_Missense_Mutation_p.E355K|MPP7_ENST00000375732.1_Missense_Mutation_p.E355K	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	355					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCACTTCTTCGTATGTGGGT	0.378000													41	71					0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179172	3179172	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:3179172G>T	ENST00000246115.3	+	1	437	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	128					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GCTCTTCACCGCCCTGGCCGC	0.721000													23	18					3.28513e-13	3.33883e-13	1	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92826826	92826826	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:92826826G>A	ENST00000394468.2	-	5	1187	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	HEPACAM2_ENST00000453812.2_Silent_p.F393F|HEPACAM2_ENST00000440868.1_Silent_p.F358F|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000341723.4_Silent_p.F358F	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	370						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TTTTCCATAGGAAGAGAAGAC	0.303000													6	19					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2052650	2052650	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:2052650G>A	ENST00000563630.1	-	4	626	c.384C>T	c.(382-384)caC>caT	p.H128H	ZNF598_ENST00000431526.1_Silent_p.H183H|ZNF598_ENST00000562103.1_Silent_p.H128H			Q86UK7	ZN598_HUMAN	zinc finger protein 598	183						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGTGCCCACGGTGCGACGTGT	0.602000													17	19					0	0	1	0	0
PRPF18	8559	broad.mit.edu	37	10	13652101	13652101	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:13652101C>T	ENST00000378572.3	+	5	586	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	142					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TCAATGAAATCGTCGGCGGTC	0.413000													27	43					0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76118725	76118725	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:76118725G>A	ENST00000590602.1	-	10	1347	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	TMC6_ENST00000322933.4_Silent_p.A35A|TMC6_ENST00000392467.3_Silent_p.A396A|TMC6_ENST00000322914.3_Silent_p.A396A|TMC6_ENST00000306591.7_Silent_p.A396A|TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000589553.1_Silent_p.A169A|TMC6_ENST00000591436.1_Silent_p.A35A			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	396						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGAGGCGGGAGGCCCGCTTCT	0.662000													10	13					0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139802543	139802543	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:139802543C>T	ENST00000359662.3	+	5	589	c.544C>T	c.(544-546)Ccg>Tcg	p.P182S	TRAF2_ENST00000536468.1_Missense_Mutation_p.P130S|TRAF2_ENST00000482854.1_3'UTR|TRAF2_ENST00000247668.2_Missense_Mutation_p.P130S			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	136					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		AGGCCGCTGCCCGCTCATGCT	0.627000													23	49					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401503	11401503	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:11401503C>T	ENST00000002596.5	-	2	1301	c.127G>A	c.(127-129)Gat>Aat	p.D43N		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	43						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCCACGCCATCGCGGACGTCA	0.692000													14	21					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196718129	196718129	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:196718129C>T	ENST00000312428.6	-	46	8819	c.8719G>A	c.(8719-8721)Gat>Aat	p.D2907N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2907					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGAGGATATCCCCAGTCAAG	0.517000													7	20					0	0	1	0	0
IFT27	11020	broad.mit.edu	37	22	37154423	37154423	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:37154423G>A	ENST00000340630.5	-	7	935	c.490C>T	c.(490-492)Cac>Tac	p.H164Y	IFT27_ENST00000433985.2_Missense_Mutation_p.H165Y|IFT27_ENST00000453009.2_Missense_Mutation_p.H124Y	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	165					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GCAAGGCAGTGGAAAGGGGCT	0.532000											OREG0026524	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	29					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28345419	28345419	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:28345419T>C	ENST00000337532.5	-	17	1817	c.1541A>G	c.(1540-1542)aAa>aGa	p.K514R	MPP7_ENST00000375719.3_Missense_Mutation_p.K514R|MPP7_ENST00000540098.1_Missense_Mutation_p.K514R|MPP7_ENST00000375732.1_Missense_Mutation_p.K514R	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	514	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TGTGAAGGGTTTTGCAGCACC	0.453000													47	74					0	0	1	0	0
C8orf46	254778	broad.mit.edu	37	8	67428287	67428287	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:67428287C>T	ENST00000305454.3	+	6	1041	c.600C>T	c.(598-600)acC>acT	p.T200T	C8orf46_ENST00000522977.1_3'UTR	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	200										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGGGAGCCACCAACAGCGCCT	0.547000													5	11					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50467960	50467960	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:50467960G>A	ENST00000331340.3	+	8	1350	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	IKZF1_ENST00000357364.4_Missense_Mutation_p.D312N|IKZF1_ENST00000359197.5_Missense_Mutation_p.D357N|IKZF1_ENST00000343574.5_Missense_Mutation_p.D312N|IKZF1_ENST00000438033.1_Missense_Mutation_p.D312N|IKZF1_ENST00000346667.4_Missense_Mutation_p.D169N|IKZF1_ENST00000439701.1_Missense_Mutation_p.D357N|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.D256N	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	399					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGACTCCACGGACACCGAGAG	0.657000			"""D,T"""	BCL6	"""ALL, DLBCL"""								6	7					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18668108	18668108	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:18668108G>A	ENST00000308799.4	+	7	1793	c.1574G>A	c.(1573-1575)gGg>gAg	p.G525E	FBXW10_ENST00000301938.4_Missense_Mutation_p.G496E|FBXW10_ENST00000395665.4_Missense_Mutation_p.G496E|FBXW10_ENST00000395667.1_Missense_Mutation_p.G496E			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	496										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GGTCACCAGGGGACTATCACT	0.468000													22	7					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74347548	74347548	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:74347548C>T	ENST00000226355.3	+	1	149	c.56C>T	c.(55-57)tCc>tTc	p.S19F		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	19					vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGACTGAATCCCTAACCCTG	0.308000													17	26					0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121771	73121771	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:73121771G>A	ENST00000373189.5	+	6	886	c.834G>A	c.(832-834)caG>caA	p.Q278Q	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	278					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AGCTTCCCCAGGACTCCCTCA	0.592000													21	13					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130416992	130416992	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:130416992C>T	ENST00000370904.1	-	12	1797	c.887G>A	c.(886-888)gGt>gAt	p.G296D	IGSF1_ENST00000370910.1_Missense_Mutation_p.G296D|IGSF1_ENST00000361420.3_Missense_Mutation_p.G305D|IGSF1_ENST00000370903.3_Missense_Mutation_p.G305D			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	305	Ig-like C2-type 3.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAGGAGTGAACCTCTATATGA	0.393000													16	6					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056369	26056369	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:26056369C>T	ENST00000343677.2	-	1	330	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	96	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGTGCCTTTCGTTTGCACCA	0.532000													47	86					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814384	137814384	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:137814384G>A	ENST00000409968.1	+	3	712	c.534G>A	c.(532-534)cgG>cgA	p.R178R	THSD7B_ENST00000413152.2_Silent_p.R147R|THSD7B_ENST00000543459.1_Silent_p.R37R|THSD7B_ENST00000272643.3_Silent_p.R178R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTGTCCCCGGGATTGTGTAG	0.498000													56	114					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38951638	38951638	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:38951638C>T	ENST00000450244.1	-	8	1218	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	SCN11A_ENST00000444237.2_Silent_p.T340T|SCN11A_ENST00000456224.3_Silent_p.T340T|SCN11A_ENST00000302328.3_Silent_p.T340T			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T340T(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTCAAAATTCGTATAATTAT	0.368000													14	34					0	0	1	0	0
C15orf41	84529	broad.mit.edu	37	15	37100621	37100621	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr15:37100621G>A	ENST00000563167.1	+	2	259	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	C15orf41_ENST00000569302.1_Silent_p.T277T|C15orf41_ENST00000562489.1_Silent_p.T95T|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000566621.1_Silent_p.T271T|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562877.1_Silent_p.T173T|C15orf41_ENST00000338183.4_Silent_p.T173T|C15orf41_ENST00000437989.2_Silent_p.T271T|C15orf41_ENST00000567389.1_Silent_p.T173T			Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	0							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GTTTCCCCACGAACATTGTCA	0.493000													7	18					0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35689733	35689733	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:35689733C>T	ENST00000378292.3	-	1	1284	c.82G>A	c.(82-84)Gac>Aac	p.D28N	TPM2_ENST00000360958.2_Missense_Mutation_p.D28N|TPM2_ENST00000378300.5_Missense_Mutation_p.D28N|TPM2_ENST00000329305.2_Missense_Mutation_p.D28N	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	28					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGCTTCTTGTCGGCTTCGGCC	0.662000													74	37					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727944	181727944	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:181727944C>T	ENST00000526775.1	+	31	4653	c.4488C>T	c.(4486-4488)atC>atT	p.I1496I	CACNA1E_ENST00000357570.5_Silent_p.I1466I|CACNA1E_ENST00000367573.2_Silent_p.I1515I|CACNA1E_ENST00000360108.3_Silent_p.I1496I|CACNA1E_ENST00000367570.1_Silent_p.I1515I|CACNA1E_ENST00000367567.4_Silent_p.I1122I|CACNA1E_ENST00000358338.5_Silent_p.I1447I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1515					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCTGAATATCGCCTTCACCA	0.458000													45	11					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204408122	204408122	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:204408122C>T	ENST00000367187.3	-	24	4013	c.3457G>A	c.(3457-3459)Gac>Aac	p.D1153N	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.D1125N	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1153	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGGGGCCGGTCCTTGAACGAG	0.597000													16	8					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718687	25718687	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:25718687C>T	ENST00000520164.1	-	13	1757	c.1220G>A	c.(1219-1221)aGg>aAg	p.R407K	EBF2_ENST00000408929.3_Missense_Mutation_p.R259K|EBF2_ENST00000535548.1_Missense_Mutation_p.R138K	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	407					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GCTGGGATTCCTGGGGACGCT	0.522000													35	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179599569	179599569	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:179599569C>T	ENST00000589042.1	-	51	15306	c.15082G>A	c.(15082-15084)Gtc>Atc	p.V5028I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V3784I|TTN_ENST00000591111.1_Missense_Mutation_p.V4711I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4711	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACATTCGGACTGTGTTACTT	0.423000													20	23					0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2218111	2218111	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:2218111G>A	ENST00000326181.6	+	4	305	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	58					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CAGCACTGCAGGACACCCTCC	0.672000													15	15					0	0	1	0	0
GYPB	2994	broad.mit.edu	37	4	144918732	144918732	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:144918732C>T	ENST00000283126.7	-	4	286	c.231G>A	c.(229-231)acG>acA	p.T77T	GYPB_ENST00000510196.2_5'UTR|GYPB_ENST00000429670.2_Intron|GYPB_ENST00000502664.1_Silent_p.T77T|GYPB_ENST00000513128.1_Silent_p.T44T|RP11-673E1.4_ENST00000506982.1_RNA					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TTAAGAGGATCGTTCCAATAA	0.358000													7	22					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17897484	17897484	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:17897484T>C	ENST00000448223.2	-	15	1663	c.1394A>G	c.(1393-1395)cAa>cGa	p.Q465R	SMC6_ENST00000351948.4_Missense_Mutation_p.Q465R|SMC6_ENST00000381272.4_Missense_Mutation_p.Q491R|SMC6_ENST00000402989.1_Missense_Mutation_p.Q465R	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	465	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTTTCAGTTGCCTCTGATT	0.358000													28	56					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914883	39914883	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:39914883C>T	ENST00000425673.1	+	17	3348	c.3023C>T	c.(3022-3024)cCt>cTt	p.P1008L	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.P978L|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.P1037L			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1037					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	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCACCACCCCTGTGCCCAAG	0.542000													70	17					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8689338	8689338	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:8689338G>A	ENST00000378641.3	+	12	1664	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E397K|PLCB1_ENST00000338037.6_Missense_Mutation_p.E397K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	397	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCAATTGCGGAGTGTGCATT	0.343000													10	26					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016144	38016144	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:38016144C>T	ENST00000261439.4	+	3	787	c.432C>T	c.(430-432)atC>atT	p.I144I	TBC1D1_ENST00000508802.1_Silent_p.I144I	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	144						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CTGAGATCATCAGCTCCATCC	0.577000													38	40					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4941617	4941617	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:4941617C>T	ENST00000592666.1	+	0	1439							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		GAAGGGAGCCCCATGGTTGAC	0.602000													9	3					0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15383878	15383878	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:15383878C>A	ENST00000263377.2	-	2	254	c.33G>T	c.(31-33)ttG>ttT	p.L11F	BRD4_ENST00000371835.4_Missense_Mutation_p.L11F|BRD4_ENST00000360016.5_Missense_Mutation_p.L11F	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	11					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCAGATTTCTCAATCTCGTCC	0.552000			T	C15orf55	lethal midline carcinoma of young people								28	45					8.88839e-20	9.09567e-20	1	1	0
MUC17	140453	broad.mit.edu	37	7	100694941	100694941	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:100694941G>A	ENST00000306151.4	+	8	12986	c.12922G>A	c.(12922-12924)Gtg>Atg	p.V4308M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4308						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)					AAACATTACGGTGACCCAGTA	0.542000													16	13					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38122014	38122014	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:38122014A>G	ENST00000301659.4	+	2	192	c.74A>G	c.(73-75)gAc>gGc	p.D25G		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	25					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ACACCACTTGACAGCCTCATC	0.592000													6	2					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316715	40316715	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:40316715G>A	ENST00000593685.1	-	11	1998	c.1530C>T	c.(1528-1530)tcC>tcT	p.S510S	DYRK1B_ENST00000348817.3_Silent_p.S482S|DYRK1B_ENST00000430012.2_Silent_p.S470S|DYRK1B_ENST00000323039.5_Silent_p.S510S|DYRK1B_ENST00000597639.1_Silent_p.S482S			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	510	Interaction with RANBP9.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GCAGCGGCTGGGAGGGTGGGA	0.652000													21	7					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831617	7831617	+	Missense_Mutation	SNP	G	G	A	rs138729831	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:7831617G>A	ENST00000327325.5	+	5	978	c.860G>A	c.(859-861)cGg>cAg	p.R287Q	CLEC4M_ENST00000334806.5_Missense_Mutation_p.R236Q|CLEC4M_ENST00000359059.5_Missense_Mutation_p.R220Q|CLEC4M_ENST00000357361.2_Missense_Mutation_p.R287Q|CLEC4M_ENST00000597522.1_Missense_Mutation_p.R195Q|CLEC4M_ENST00000596707.1_Missense_Mutation_p.R220Q|CLEC4M_ENST00000596363.1_Missense_Mutation_p.R259Q|CLEC4M_ENST00000595496.1_Missense_Mutation_p.R151Q|CLEC4M_ENST00000248228.4_Missense_Mutation_p.R265Q|CLEC4M_ENST00000394122.2_Missense_Mutation_p.R275Q	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	287	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AACTCCCAGCGGAACTGGCAC	0.592000													108	16					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974046	49974046	+	Silent	SNP	C	C	T	rs146933611	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:49974046C>T	ENST00000555099.1	+	1	104	c.72C>T	c.(70-72)atC>atT	p.I24I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCAGAAAATCATATTTGTTG	0.388000													35	58					0	0	1	0	0
TFAM	7019	broad.mit.edu	37	10	60150558	60150558	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:60150558C>T	ENST00000487519.1	+	5	1001	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	TFAM_ENST00000373895.3_Intron|TFAM_ENST00000373899.3_3'UTR	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	159					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAAAAGACCTCGTTCAGCTTA	0.328000													14	12					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10116265	10116265	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:10116265C>T	ENST00000264828.3	-	4	648	c.563G>A	c.(562-564)gGg>gAg	p.G188E		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	188	TSP N-terminal.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GTCCTGGGTCCCCAGCACAGT	0.562000													19	7					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242757947	242757947	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:242757947G>A	ENST00000391969.2	+	5	1739	c.1028G>A	c.(1027-1029)gGc>gAc	p.G343D	NEU4_ENST00000407683.1_Missense_Mutation_p.G343D|NEU4_ENST00000405370.1_Missense_Mutation_p.G343D|NEU4_ENST00000325935.6_Missense_Mutation_p.G356D|NEU4_ENST00000404257.1_Missense_Mutation_p.G355D	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	343	Pro-rich.					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		CGGGGGGATGGCCCCAGGCAG	0.721000													5	8					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17085323	17085323	+	RNA	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:17085323G>A	ENST00000455405.2	-	0	44																											CACAGTAGTCGAATGGGGTCC	0.602000													3	43					0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897274	153897274	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:153897274C>T	ENST00000511601.1	+	12	3019	c.2831C>T	c.(2830-2832)tCc>tTc	p.S944F	FHDC1_ENST00000260008.3_Missense_Mutation_p.S944F			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	944					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGCCAGAACTCCGTGCGGAGG	0.711000													13	19					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124265679	124265679	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:124265679G>A	ENST00000409039.3	+	6	516	c.491G>A	c.(490-492)gGa>gAa	p.G164E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	164	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G164E(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACAACCGTGGGAGTCACATCT	0.423000													40	57					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15519684	15519684	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:15519684C>T	ENST00000382020.4	+	5	795	c.587C>T	c.(586-588)cCc>cTc	p.P196L	TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Missense_Mutation_p.P196L|TUSC3_ENST00000503731.1_Missense_Mutation_p.P196L|TUSC3_ENST00000506802.1_Missense_Mutation_p.P196L	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	196					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCAGACCACCCAACTACTCT	0.343000													35	48					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41176619	41176619	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:41176619C>T	ENST00000263413.3	-	8	1390	c.1126G>A	c.(1126-1128)Gac>Aac	p.D376N	C6_ENST00000337836.5_Missense_Mutation_p.D376N|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	376	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAGAGAAGGTCATACACGCCT	0.418000													14	6					0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123527023	123527023	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:123527023C>T	ENST00000373926.3	-	8	1366	c.1179G>A	c.(1177-1179)cgG>cgA	p.R393R	FBXW2_ENST00000493559.1_Intron|FBXW2_ENST00000340778.5_Silent_p.R328R	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	393					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GGCTCTCTGTCCGCAAGTCCA	0.517000													26	50					0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242265483	242265483	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:242265483C>T	ENST00000391973.2	+	3	613	c.85C>T	c.(85-87)Cga>Tga	p.R29*	SEPT2_ENST00000407971.1_5'UTR|SEPT2_ENST00000360051.3_Nonsense_Mutation_p.R29*|SEPT2_ENST00000391971.2_Nonsense_Mutation_p.R29*|SEPT2_ENST00000402092.2_Nonsense_Mutation_p.R29*|SEPT2_ENST00000401990.1_Nonsense_Mutation_p.R29*	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	29					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TCAAGTTCACCGAAAATCAGT	0.353000													16	20					0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117078713	117078713	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:117078713G>A	ENST00000457047.2	-	3	555	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	CD58_ENST00000369489.5_Missense_Mutation_p.R168C|CD58_ENST00000369487.3_Missense_Mutation_p.R168C	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	168	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTTGAGTTACGTTTACATTGC	0.343000													18	9					0	0	1	0	0
AK1	203	broad.mit.edu	37	9	130630752	130630752	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:130630752G>A	ENST00000373176.1	-	6	516	c.364C>T	c.(364-366)Cct>Tct	p.P122S	AK1_ENST00000223836.10_Missense_Mutation_p.P138S|RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Missense_Mutation_p.P122S	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN	adenylate kinase 1	122					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding			endometrium(1)|prostate(1)	2						ATGGTCTCAGGGCCTGCGTCC	0.602000													4	4					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58118610	58118610	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:58118610G>A	ENST00000357272.4	+	26	4631	c.4466G>A	c.(4465-4467)gGa>gAa	p.G1489E	FLNB_ENST00000295956.4_Missense_Mutation_p.G1489E|FLNB_ENST00000490882.1_Missense_Mutation_p.G1520E|FLNB_ENST00000419752.2_Missense_Mutation_p.G1320E|FLNB_ENST00000493452.1_Missense_Mutation_p.G1320E|FLNB_ENST00000358537.3_Missense_Mutation_p.G1489E|FLNB_ENST00000348383.5_Missense_Mutation_p.G1489E|FLNB_ENST00000429972.2_Missense_Mutation_p.G1489E			O75369	FLNB_HUMAN	filamin B, beta	1489	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCTCAGGAGGGACCTTACATG	0.502000													9	15					0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99773899	99773899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:99773899G>A	ENST00000292377.2	-	2	423	c.256C>T	c.(256-258)Cga>Tga	p.R86*		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	86						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCAGGCCTCGGAAGGTGGCC	0.597000													7	17					0	0	1	0	0
GNLY	10578	broad.mit.edu	37	2	85923104	85923104	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:85923104G>A	ENST00000409696.3	+	4	417	c.135G>A	c.(133-135)caG>caA	p.Q45Q	GNLY_ENST00000263863.4_Silent_p.Q60Q|GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000524600.1_Silent_p.Q87Q	NM_012483.2	NP_036615.2	P22749	GNLY_HUMAN	granulysin	60					cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CCAAAACACAGGAGCTGGGCC	0.552000													8	9					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106155139	106155139	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:106155139C>T	ENST00000513237.1	+	3	900	c.103C>T	c.(103-105)Cta>Tta	p.L35L	TET2_ENST00000380013.4_Silent_p.L14L|TET2_ENST00000305737.2_Silent_p.L14L|TET2_ENST00000540549.1_Silent_p.L14L|TET2_ENST00000394764.1_Silent_p.L14L|TET2_ENST00000545826.1_Silent_p.L14L|TET2_ENST00000413648.2_Silent_p.L14L			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	14					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGGCAACAGACTAAGTCCATT	0.507000			"""Mis N, F"""		MDS								5	9					0	0	1	0	0
ZG16B	124220	broad.mit.edu	37	16	2881908	2881908	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:2881908C>T	ENST00000382280.3	+	4	454	c.375C>T	c.(373-375)gcC>gcT	p.A125A	ZG16B_ENST00000572863.1_Silent_p.A95A	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	125						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TCTTTGTCGCCTTCCAAGCTT	0.532000													18	19					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48153021	48153021	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:48153021C>T	ENST00000320031.8	+	12	1926	c.1596C>T	c.(1594-1596)gcC>gcT	p.A532A	ITGA3_ENST00000544892.1_3'UTR|ITGA3_ENST00000007722.7_Silent_p.A532A	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	532					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						TCCGCTTTGCCGGCAGTGAGT	0.657000													27	45					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012589	29012589	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr6:29012589G>A	ENST00000377175.1	-	1	428	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122G(1)|p.R122S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCTGTAAAACGATCATAGGAC	0.398000													10	24					0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574866	28574866	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:28574866C>T	ENST00000220562.4	+	3	2192	c.1290C>T	c.(1288-1290)ttC>ttT	p.F430F	EXTL3_ENST00000523149.1_Silent_p.F46F|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	430						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCTCCACCTTCGCCCTCATCA	0.602000													27	29					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578414	58578414	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:58578414C>T	ENST00000506786.1	+	5	990	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	ZNF135_ENST00000359978.6_Missense_Mutation_p.H200Y|ZNF135_ENST00000439855.2_Missense_Mutation_p.H188Y|ZNF135_ENST00000313434.5_Missense_Mutation_p.H188Y|ZNF135_ENST00000401053.4_Missense_Mutation_p.H212Y|ZNF135_ENST00000511556.1_Missense_Mutation_p.H200Y			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	200					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACAAAGCCCCCACACATGGGG	0.468000													37	8					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11234012	11234012	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:11234012C>T	ENST00000558518.1	+	15	2490	c.2303C>T	c.(2302-2304)tCt>tTt	p.S768F	LDLR_ENST00000545707.1_Missense_Mutation_p.S590F|LDLR_ENST00000455727.2_Missense_Mutation_p.S600F|LDLR_ENST00000535915.1_Missense_Mutation_p.S727F|LDLR_ENST00000557933.1_Missense_Mutation_p.S768F|LDLR_ENST00000558013.1_Missense_Mutation_p.S768F	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	768	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GTGACAATGTCTCACCAAGGT	0.612000													27	15					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70901909	70901909	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:70901909C>T	ENST00000264436.3	-	14	2086	c.1642G>A	c.(1642-1644)Gat>Aat	p.D548N	ADD2_ENST00000355733.3_Missense_Mutation_p.D548N|ADD2_ENST00000407644.2_Missense_Mutation_p.D548N	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	548					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCCTCTGAATCGTCTTTGGTA	0.527000													26	36					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627173	187627173	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:187627173G>A	ENST00000304698.5	+	8	2307	c.2104G>A	c.(2104-2106)Gac>Aac	p.D702N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	702						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCAGAGCAATGACACCAGTCT	0.483000													16	13					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50899620	50899620	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr22:50899620C>T	ENST00000380817.2	-	23	3118	c.2935G>A	c.(2935-2937)Gac>Aac	p.D979N	SBF1_ENST00000348911.6_Missense_Mutation_p.D980N|SBF1_ENST00000390679.3_Missense_Mutation_p.D979N	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	979					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGGAGCCCGTCCTGCAGGAGC	0.667000													9	16					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164901	139164901	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:139164901G>A	ENST00000395297.1	-	13	1987	c.1817C>T	c.(1816-1818)tCt>tTt	p.S606F		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	606										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTTGTCTGAAGAGATGGCATT	0.453000										HNSCC(54;0.14)			49	62					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24535366	24535366	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:24535366C>T	ENST00000264463.4	-	5	1176	c.669G>A	c.(667-669)ccG>ccA	p.P223P		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	223	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P223P(1)		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)		TGTTCATGTTCGGTAAAGCAG	0.403000										HNSCC(23;0.051)			19	11					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138030160	138030160	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:138030160G>A	ENST00000409968.1	+	11	2502	c.2324G>A	c.(2323-2325)gGa>gAa	p.G775E	THSD7B_ENST00000413152.2_Missense_Mutation_p.G744E|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.G775E					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCAGCCAATGGAGGCCAGGAA	0.388000													8	11					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31477723	31477723	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:31477723T>G	ENST00000408912.3	+	8	2923	c.2606T>G	c.(2605-2607)tTc>tGc	p.F869C	ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000412665.2_Missense_Mutation_p.F418C|ARMC5_ENST00000538189.1_Missense_Mutation_p.F806C|ARMC5_ENST00000563544.1_Missense_Mutation_p.F774C|ARMC5_ENST00000268314.4_Missense_Mutation_p.F774C			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	774							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCCCCTTTCTTCCGGGCCCTG	0.677000													10	10					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411327	126411327	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:126411327C>T	ENST00000394329.3	+	17	13363	c.13350C>T	c.(13348-13350)acC>acT	p.T4450T	FAT4_ENST00000335110.5_Silent_p.T2691T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4450	EGF-like 6.				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						CCGGCTTCACCTGTAGCTGCC	0.617000													36	37					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155232632	155232632	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:155232632C>T	ENST00000460012.1	-	12	1779	c.1422G>A	c.(1420-1422)agG>agA	p.R474R	PLCH1_ENST00000414191.1_Silent_p.R474R|PLCH1_ENST00000494598.1_Silent_p.R492R|PLCH1_ENST00000447496.2_Silent_p.R492R|PLCH1_ENST00000334686.6_Silent_p.R474R|PLCH1_ENST00000340059.7_Silent_p.R492R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	492					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCAGTTTTTTCCTTATGAAAG	0.388000													14	10					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324469	24324469	+	Missense_Mutation	SNP	G	G	A	rs139013320		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:24324469G>A	ENST00000175238.6	+	6	630	c.547G>A	c.(547-549)Gat>Aat	p.D183N	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.D183N|ADAM7_ENST00000380789.1_Missense_Mutation_p.D183N|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	183					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGTTCCAGGGGATAATGAATC	0.358000													26	49					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187309	27187309	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr7:27187309G>A	ENST00000222728.3	-	1	84	c.60C>T	c.(58-60)tcC>tcT	p.S20S	HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA6_ENST00000521478.1_Intron	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	20						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GGCCCAAGAAGGAGTCCTGGC	0.602000													13	28					0	0	1	0	0
CTNNBIP1	56998	broad.mit.edu	37	1	9910679	9910679	+	Splice_Site	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr1:9910679G>A	ENST00000537447.1	-	3	370		c.e3+1		CTNNBIP1_ENST00000377258.1_3'UTR|CTNNBIP1_ENST00000377263.1_3'UTR|CTNNBIP1_ENST00000400904.3_3'UTR			Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1						anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ggaagggggaggtggggcaag	0.627000													28	8					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9746673	9746673	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:9746673C>T	ENST00000383832.3	+	4	445	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CPNE9_ENST00000383831.3_Silent_p.F85F	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	85	C2 1.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					ATCTGCGCTTCGATGTGTGAG	0.607000													6	8					0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50863200	50863200	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:50863200G>A	ENST00000395562.2	+	13	1917	c.1448G>A	c.(1447-1449)gGa>gAa	p.G483E	CHAT_ENST00000339797.1_Missense_Mutation_p.G447E|CHAT_ENST00000337653.2_Missense_Mutation_p.G565E|CHAT_ENST00000351556.3_Missense_Mutation_p.G447E|CHAT_ENST00000455728.2_Missense_Mutation_p.G447E|CHAT_ENST00000395559.2_Missense_Mutation_p.G447E	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	565					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TTCCAGGAGGGACGCGTGGAC	0.587000													27	35					0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1395288	1395288	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr16:1395288C>T	ENST00000324385.5	+	22	2242	c.2084C>T	c.(2083-2085)cCc>cTc	p.P695L	BAIAP3_ENST00000562208.1_Missense_Mutation_p.P637L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.P677L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.P677L|BAIAP3_ENST00000421665.2_Missense_Mutation_p.P624L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.P632L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.P660L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	695	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)				ATCCACGCCCCCTTCCTGCCT	0.642000													38	32					0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1399994	1399994	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:1399994G>A	ENST00000406424.4	-	11	1699	c.839C>T	c.(838-840)cCc>cTc	p.P280L	INPP5K_ENST00000542125.1_Missense_Mutation_p.P260L|INPP5K_ENST00000421807.2_Missense_Mutation_p.P356L|INPP5K_ENST00000397335.3_Missense_Mutation_p.P264L|INPP5K_ENST00000320345.6_Missense_Mutation_p.P280L	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	356	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CGGGCTGCTGGGGAAGTCCGA	0.582000													12	6					0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108575937	108575937	+	Missense_Mutation	SNP	G	G	A	rs148756122		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:108575937G>A	ENST00000265174.4	-	8	1287	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	339					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TCTGGATTGCGAAGAATGGCC	0.498000													40	59					0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134256013	134256013	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:134256013C>T	ENST00000337090.3	+	6	631	c.458C>T	c.(457-459)tCg>tTg	p.S153L	CEP63_ENST00000513612.2_Missense_Mutation_p.S153L|CEP63_ENST00000383229.3_Missense_Mutation_p.S153L|CEP63_ENST00000606977.1_Missense_Mutation_p.S153L|CEP63_ENST00000332047.5_Missense_Mutation_p.S153L|CEP63_ENST00000354446.3_Missense_Mutation_p.S153L			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	153					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.S153L(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CGTCAGAAATCGCTGGACTGG	0.438000													24	38					0	0	1	0	0
ABCD1	215	broad.mit.edu	37	X	152991508	152991508	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chrX:152991508C>T	ENST00000218104.3	+	1	1186	c.787C>T	c.(787-789)Ccc>Tcc	p.P263S	ABCD1_ENST00000370129.4_Missense_Mutation_p.P78S	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	263	ABC transmembrane type-1.		P -> L (in X-ALD; CALD, AMN and AD- types).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTTCTCGCCCAAGTTCGG	0.706000													3	8					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110434413	110434413	+	Silent	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr13:110434413A>G	ENST00000375856.3	-	1	4502	c.3988T>C	c.(3988-3990)Ttg>Ctg	p.L1330L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1330				LPPANTYASIDFLSHHLKEATIVKE -> PAPCPTTYAQH (in Ref. 1; BAA24500).	fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GCCTCCTTCAAGTGGTGGGAC	0.687000													7	24					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39760948	39760948	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:39760948A>C	ENST00000395670.3	-	5	1038	c.619T>G	c.(619-621)Ttg>Gtg	p.L207V	KIF21A_ENST00000361961.3_Missense_Mutation_p.L207V|KIF21A_ENST00000541463.2_Missense_Mutation_p.L207V|KIF21A_ENST00000361418.5_Missense_Mutation_p.L207V|KIF21A_ENST00000544797.2_Missense_Mutation_p.L207V			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	207	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAAGCACCCAACTTCAAACAC	0.408000													14	19					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185012432	185012432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:185012432C>T	ENST00000296741.2	-	8	1362	c.1221G>A	c.(1219-1221)tgG>tgA	p.W407*		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	407					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TCACCCTGGACCAGGATCCGT	0.587000													28	59					0	0	1	0	0
NDUFA9	4704	broad.mit.edu	37	12	4791444	4791444	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:4791444C>T	ENST00000266544.5	+	9	894	c.874C>T	c.(874-876)Ccc>Tcc	p.P292S	RP11-234B24.6_ENST00000544741.2_Missense_Mutation_p.P51S	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	292					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CCTCCCATTCCCCTTGCCGCT	0.458000													30	58					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111317014	111317014	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr3:111317014C>T	ENST00000352690.4	+	6	1095	c.855C>T	c.(853-855)atC>atT	p.I285I	CD96_ENST00000283285.5_Silent_p.I301I|CD96_ENST00000438817.2_Silent_p.I285I	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	301	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AAGCAAATATCACATGGTTTA	0.318000									Opitz Trigonocephaly syndrome				30	47					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365972	88365972	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr8:88365972A>T	ENST00000518476.1	+	10	1312	c.1261A>T	c.(1261-1263)Aaa>Taa	p.K421*		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	421										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						CATTACCAAAAAAGAAGTTGA	0.333000													16	10					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32354689	32354689	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:32354689C>T	ENST00000375200.1	+	9	1620	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	ZNF341_ENST00000342427.2_Missense_Mutation_p.P412S			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						TGCGCCACAGCCCCAGGCCTT	0.632000													75	101					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131375668	131375668	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:131375668C>T	ENST00000372739.3	+	40	5162	c.5052C>T	c.(5050-5052)gcC>gcT	p.A1684A	SPTAN1_ENST00000358161.5_Silent_p.A1684A|SPTAN1_ENST00000372731.4_Silent_p.A1679A	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1679					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGTGGAGGCCCTGCTGGCAT	0.478000													14	17					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36276361	36276361	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:36276361C>T	ENST00000007510.4	+	19	2062	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	ARHGAP33_ENST00000378944.5_Silent_p.L504L|ARHGAP33_ENST00000314737.5_Silent_p.L640L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	640					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGAGGAGTCTCTGTCATCGCA	0.657000													64	16					0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318164	176318164	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr5:176318164C>T	ENST00000292432.5	-	4	379	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	96	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGGCCCCCAGCTCCAGCA	0.592000													11	12					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064760	7064760	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:7064760G>A	ENST00000299481.4	+	4	1849	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	501					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGGAAGCTGGGAACCCTTCCT	0.428000													19	40					0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1950370	1950370	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:1950370G>A	ENST00000278317.6	+	7	322	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	TNNT3_ENST00000397301.1_Missense_Mutation_p.E46K|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000381548.3_Missense_Mutation_p.E37K|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381579.3_Intron	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	46					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GGAGGACGCGGAAGGTAAGGG	0.662000													54	65					0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40091939	40091939	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:40091939C>T	ENST00000591658.1	+	0	402							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CAAGCTGAGGCCTGATCGGGA	0.507000													5	2					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100209921	100209921	+	Silent	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:100209921G>A	ENST00000317233.4	-	14	2437	c.2202C>T	c.(2200-2202)atC>atT	p.I734I	AFF3_ENST00000356421.2_Silent_p.I759I|AFF3_ENST00000409236.1_Silent_p.I734I|AFF3_ENST00000409579.1_Silent_p.I759I	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	734					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCTCCTTGGCGATGTCACTGG	0.602000													29	44					0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14720310	14720310	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:14720310A>C	ENST00000380911.3	-	2	626	c.582T>G	c.(580-582)caT>caG	p.H194Q		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	194	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CTCCAGGAAAATGAACAGACC	0.473000													12	6					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146071774	146071774	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:146071774G>A	ENST00000454497.2	-	13	1092	c.955C>T	c.(955-957)Cct>Tct	p.P319S	OTUD4_ENST00000447906.2_Missense_Mutation_p.P384S|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	383							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTCCTGAAGGATGCTGCAGT	0.463000													15	38					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3494592	3494592	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:3494592C>T	ENST00000174621.6	-	3	553	c.264G>A	c.(262-264)atG>atA	p.M88I	TRPV1_ENST00000425167.2_Missense_Mutation_p.D114N|SHPK_ENST00000572705.1_Missense_Mutation_p.D114N|TRPV1_ENST00000310522.5_Missense_Mutation_p.D114N|TRPV1_ENST00000399759.3_Missense_Mutation_p.D114N|TRPV1_ENST00000576351.1_Missense_Mutation_p.D114N|TRPV1_ENST00000571088.1_Missense_Mutation_p.D114N|TRPV1_ENST00000399756.4_Missense_Mutation_p.D114N			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	787					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CTCCTGCGATCATAGAGCCTG	0.572000													12	8					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161740	8161740	+	Splice_Site	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:8161740C>T	ENST00000343202.4	-	2	190	c.124_splice	c.e2-1	p.G42_splice	RIC3_ENST00000425599.2_Splice_Site_p.G42_splice|RIC3_ENST00000309737.6_Splice_Site_p.G42_splice|RIC3_ENST00000539720.1_5'UTR|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000419822.2_Splice_Site_p.G42_splice	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	42						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GCCCAATTTTCCTGAGAAAAT	0.428000													8	7					0	0	1	0	0
RAB22A	57403	broad.mit.edu	37	20	56934720	56934720	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr20:56934720C>T	ENST00000244040.3	+	7	827	c.546C>T	c.(544-546)ctC>ctT	p.L182L		NM_020673.2	NP_065724.1	Q9UL26	RB22A_HUMAN	RAB22A, member RAS oncogene family	182					endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|pancreas(1)	6	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)			GCTTCAAACTCCGAAGACAGC	0.512000													13	15					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49422858	49422858	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:49422858C>T	ENST00000301067.7	-	44	14236	c.14237G>A	c.(14236-14238)cGg>cAg	p.R4746Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GATGCTGGCCCGAGGAATGAG	0.627000													26	16					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39760939	39760939	+	Silent	SNP	A	A	G			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr12:39760939A>G	ENST00000395670.3	-	5	1047	c.628T>C	c.(628-630)Tta>Cta	p.L210L	KIF21A_ENST00000361961.3_Silent_p.L210L|KIF21A_ENST00000541463.2_Silent_p.L210L|KIF21A_ENST00000361418.5_Silent_p.L210L|KIF21A_ENST00000544797.2_Silent_p.L210L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	210	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				GTCCGGGATAAAGCACCCAAC	0.413000													16	22					0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045296	40045296	+	RNA	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr4:40045296C>T	ENST00000381811.2	-	0	853					NR_027277.1																						TGCGCTCCAGCTTCTGGGTTT	0.587000													7	16					0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040854	103040854	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:103040854C>T	ENST00000264260.2	+	5	1148	c.559C>T	c.(559-561)Cca>Tca	p.P187S	IL18RAP_ENST00000409369.1_Missense_Mutation_p.P45S	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	187	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCACAAAGTCCAGCGGTAAC	0.423000													20	49					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41782115	41782115	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr19:41782115C>T	ENST00000392006.3	+	5	871	c.698C>T	c.(697-699)cCg>cTg	p.P233L	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P144L|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P133L|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P133L|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P133L|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P190L|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.P233L	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	233	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGTGGCTATCCGCTCACAATT	0.517000													90	21					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50953396	50953396	+	Silent	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr10:50953396C>T	ENST00000374103.4	-	12	1708	c.1623G>A	c.(1621-1623)gaG>gaA	p.E541E	OGDHL_ENST00000419399.1_Silent_p.E484E|OGDHL_ENST00000432695.1_Silent_p.E332E	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	541					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCACCTCAAACTCCTGCAGGG	0.592000													14	19					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219290485	219290485	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr2:219290485C>T	ENST00000248444.5	+	4	386	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	VIL1_ENST00000440053.1_Nonsense_Mutation_p.Q100*|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	100	Core.|Necessary for homodimerization.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCGAGGTCCAGGGCAACGA	0.622000													20	41					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971092	21971096	+	Frame_Shift_Del	DEL	CCCTC	CCCTC	-	rs137854599		TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr9:21971092_21971096delCCCTC	ENST00000579755.1	-	2	597_601	c.305_309delGAGGG	c.(304-309)gfs	p.GG102fs	CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.EG88fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.EG37fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.EG37fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.EG37fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.GG102fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.EG88fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.EG37fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.EG88fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.EG37fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.EG88fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.GG143fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010).		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.?(44)|p.E88*(15)|p.E88E(6)|p.G89S(4)|p.E88K(3)|p.E88D(2)|p.H83fs*2(2)|p.V82_G89>G(1)|p.G143V(1)|p.E88A(1)|p.E88G(1)|p.A68fs*3(1)|p.E88V(1)|p.V82_E88del(1)|p.0(1)|p.D84_F90del(1)|p.R137fs*48(1)|p.G89fs*57(1)|p.E87K(1)|p.G89V(1)|p.E61_L94del(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)		GTCCAGGAAGCCCTCCCGGGCAGCG	0.761	E88*(CAL33_UPPER_AERODIGESTIVE_TRACT)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			8	7	---	---	---	---					
CHST1	8534	broad.mit.edu	37	11	45672090	45672116	+	In_Frame_Del	DEL	GTAGAGGCTCCGCAGGAGGTCGCGGCT	GTAGAGGCTCCGCAGGAGGTCGCGGCT	-	rs143571003	byFrequency	TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr11:45672090_45672116delGTAGAGGCTCCGCAGGAGGTCGCGGCT	ENST00000308064.2	-	4	1028_1054	c.358_384delAGCCGCGACCTCCTGCGGAGCCTCTAC	c.(358-384)del	p.SRDLLRSLY120del		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	120					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.R121C(1)|p.Y128Y(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGTCGCAGTCGTAGAGGCTCCGCAGGAGGTCGCGGCTGGCGCCTAGC	0.661													9	85	---	---	---	---					
PRPF39	55015	broad.mit.edu	37	14	45579967	45579967	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr14:45579967delA	ENST00000355765.6	+	10	1689	c.1519delA	c.(1519-1521)aafs	p.K507fs		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	507					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CAAAATACAGAAAAACCTTCC	0.333													2	4	---	---	---	---					
NLGN2	57555	broad.mit.edu	37	17	7320248	7320248	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EB-A44O-01A-11D-A25O-08	TCGA-EB-A44O-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25C27B9B-943F-4F09-A60B-FF0ED41918EB	C723584A-C404-4C88-BFEA-E40F5DBBA542	g.chr17:7320248delC	ENST00000302926.2	+	7	1711	c.1638delC	c.(1636-1638)gafs	p.D546fs	NLGN2_ENST00000575301.1_Frame_Shift_Del_p.D546fs	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	546					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CCCACAGGGACCCCAACCAGC	0.592													2	4	---	---	---	---